 |
|
References of Mitochondrial Interest (A-L)
|
This page is part of Mitomap. Date of last update: 5 January 2023. If you would like to submit published articles to be included in Mitomap, please send the citation & a pdf file (or link) to mitomap@email.chop.edu . Thanks. |
| Go to Complete Listing (ALL) A B C D E F G H I J K L Go to Author Listing (M-Z) |
Aanen, D. K. and Maas, M. F. (2012). "Recruitment of healthy mitochondria fuels transmissible cancers". Trends in Genetics 28(28):1-6.
Abad, M. M., Cotter, P. D., Fodor, F. H., Larson, S., Ginsberg-Fellner, F., Desnick, R. J. and Abdenur, J. E. (1997). "Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus." Metabolism 46(4):445-449.
Abe, K., Fujimura, H., Nishikawa, Y., Yorifuji, S., Mezaki, T., Hirono, N., Nishitani, N. and Kameyama, M. (1991). "Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)." Acta Neurologica Scandinavica 83(6):356-359.
Abe, S., Usami, S., Shinkawa, H., Weston, M. D., Overbeck, L. D., Hoover, D. M., Kenyon, J. B., Horai, S. and Kimberling, W. J. (1998). "Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation." European Journal of Human Genetics 6(6):563-569.
Abedi, S., Yung, G., Atilano, S. R., Thaker, K., Chang, S., Chwa, M., Schneider, K., Udar, N., Bota, D. and Kenney, M. C. (2020). "Differential effects of cisplatin on cybrid cells with varying mitochondrial DNA haplogroups." PeerJ 8:e9908.
Abou-Sleiman, P. M., Muqit, M. M. and Wood, N. W. (2006). "Expanding insights of mitochondrial dysfunction in Parkinson's disease." Nature Reviews. Neuroscience 7(3):207-219.
Abou Tayoun, A. N., Pesaran, T., DiStefano, M. T., Oza, A., Rehm, H. L., Biesecker, L. G., Harrison, S. M. and ClinGen Sequence Variant Interpretation Working Group (2018). "Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion." Human Mutation 39(11):1517-1524.
Abrahams, J. P., Leslie, A. G., Lutter, R. and Walker, J. E. (1994). "Structure at 2.8 A resolution of F1-ATPase from bovine heart mitochondria [see comments]." Nature 370(6491):621-628.
Abreu-Silva, R. S., Batissoco, A. C., Lezirovitz, K., Romanos, J., Rincon, D., Auricchio, M. T., Otto, P. A. and Mingroni-Netto, R. C. (2006). "Correspondence regarding Ballana et al.[BBRC 341(4):950-957], "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment"; [author reply BBRC 343(3):619-620]." Biochemical and Biophysical Research Communications 343(3):675-676.
Abu-Amero, K. K. and Bosley, T. M. (2005). "Detection of mitochondrial respiratory dysfunction in circulating lymphocytes using resazurin." Archives of Pathology and Laboratory Medicine 129(10):1295-1298.
Abu-Amero, K. K. and Bosley, T. M. (2006). "Prothrombotic and atherosclerotic risk factors lack significance in NAION patients harbouring mitochondrial DNA mutations." British Journal of Ophthalmology 90(1):119-120.
Abu-Amero, K. K. and Bosley, T. M. (2006). "Increased relative mitochondrial DNA content in leucocytes of patients with NAION." British Journal of Ophthalmology 90(7):823-825.
Abu-Amero, K. K. and Bosley, T. M. (2006). "Mitochondrial abnormalities in patients with LHON-like optic neuropathies." Investigative Ophthalmology and Visual Science 47(10):4211-4220.
Abu-Amero, K. K. and Bosley, T. M. (2007). "Reassessment of the pathologic significance of the 9438 mitochondrial DNA mutation associated with LHON." Ophthalmic Genetics 28(4):229-230.
Abu-Amero, K. K., Alzahrani, A. S., Zou, M. and Shi, Y. (2005). "High frequency of somatic mitochondrial DNA mutations in human thyroid carcinomas and complex I respiratory defect in thyroid cancer cell lines." Oncogene 24(8):1455-1460.
Abu-Amero, K. K., Alzahrani, A. S., Zou, M. and Shi, Y. (2006). "Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/multiple endocrine neoplasia type 2 syndrome." Oncogene 25(5):677-684.
Abu-Amero, K. K., Azad, T. A., Sultan, T., Kalantan, H., Kondkar, A. A. and Al-Muammar, A. M. (2014). "Association of mitochondrial haplogroups H and R with keratoconus in Saudi Arabian patients." Investigative Ophthalmology and Visual Science 55(5):2827-2831.
Abu-Amero, K. K., Bosley, T. M. and Morales, J. (2008). "Analysis of nuclear and mitochondrial genes in patients with pseudoexfoliation glaucoma." Molecular Vision 14:29-36.
Abu-Amero, K. K., Bosley, T. M., Bohlega, S. and Hansen, E. (2005). "Mitochondrial T9957C mutation in association with NAION and seizures but not MELAS". Ophthalmic Genetics 26(1):31-36.
Abu-Amero, K. K., Bosley, T. M., Bohlega, S. and McLean, D. (2005). "Complex I respiratory defect in LHON plus dystonia with no mitochondrial DNA mutation." British Journal of Ophthalmology 89(10):1380-1381.
Abu-Amero, K. K., Cabrera, V. M., Larruga, J. M., Osman, E. A., Gonzalez, A. M. and Al-Obeidan, S. A. (2011). "Eurasian and Sub-Saharan African mitochondrial DNA haplogroup influences pseudoexfoliation glaucoma development in Saudi patients." Molecular Vision 17:543-547.
Abu-Amero, K. K., Gonzalez, A. M., Larruga, J. M., Bosley, T. M. and Cabrera, V. M. (2007). "Eurasian and African mitochondrial DNA influences in the Saudi Arabian population." BMC Evolutionary Biology 7:32.
Abu-Amero, K. K., Gonzalez, A. M., Osman, E. A., Larruga, J. M., Cabrera, V. M. and Al-Obeidan, S. A. (2011). "Mitochondrial DNA lineages of African origin confer susceptibility to primary open-angle glaucoma in Saudi patients." Molecular Vision 17:1468-1472.
Abu-Amero, K. K., Gonzalez, A. M., Osman, E. A., Larruga, J. M., Cabrera, V. M. and Al-Obeidan, S. A. (2011). "Susceptibility to primary angle closure glaucoma in Saudi Arabia: the possible role of mitochondrial DNA ancestry informative haplogroups." Molecular Vision 17:2171-2176.
Abu-Amero, K. K., Hauser, M. A., Mohamed, G., Liu, Y., Gibson, J., Gonzalez, A. M., Akafo, S. and Allingham, R. R. (2012). "Mitochondrial genetic background in Ghanaian patients with primary open-angle glaucoma." Molecular Vision 18:1955-1959.
Abu-Amero, K. K., Jaber, M., Hellani, A. and Bosley, T. M. (2010). "Genome-wide expression profile of LHON patients with the 11778 mutation." British Journal of Ophthalmology 94(2):256-259.
Abu-Amero, K. K., Larruga, J. M., Cabrera, V. M. and Gonzalez, A. M. (2008). "Mitochondrial DNA structure in the Arabian Peninsula." BMC Evolutionary Biology 8(1):45.
Abu-Amero, K. K., Morales, J. and Bosley, T. M. (2006). "Mitochondrial abnormalities in patients with primary open-angle glaucoma." Investigative Ophthalmology and Visual Science 47(6):2533-2541.
Abu-Amero, K. K., Ozand, P. T. and Al-Dhalaan, H. (2006). "Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2 (CUN) in a patient with the clinical features of MELAS." Journal of Child Neurology 21(11):971-972.
Abu-Amero, K., Zou, M. and Shi, Y. (2004). "Mitochondrial A13514G mutation without MELAS but in association with papillary thyroid carcinoma." Clinical Genetics 66(6):569-570.
Abu-Erreish, G. M. and Sanadi, D. R. (1978). "Age-related changes in cytochrome concentration of myocardial mitochondria." Mechanisms of Ageing and Development 7(6):425-432.
Acaroglu, G., Kansu, T. and Dogulu, C. F. (2001). "Visual recovery patterns in children with Leber's hereditary optic neuropathy." International Ophthalmology 24(6):349-355.
Accetturo, M., Santamaria, M., Lascaro, D., Rubino, F., Achilli, A., Torroni, A., Tommaseo-Ponzetta, M. and Attimonelli, M. (2006). "Human mtDNA site-specific variability values can act as haplogroup markers." Hum Mutat 27(9):965-974.
Achilli, A., Iommarini, L., Olivieri, A., Pala, M., Kashani, B. H., et al. (2012). "Rare primary mitochondrial DNA mutations and synergistic variants in Leber's hereditary optic neuropathy". PLoS ONE 7(8):e42242.
Achilli, A., Olivieri, A., Pala, M., Hooshiar Kashani, B., Carossa, V., et al. (2011). "Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole". PLoS ONE 6(6):e21029.
Achilli, A., Olivieri, A., Pala, M., Metspalu, E., Fornarino, S., et al. (2007). "Mitochondrial DNA variation of modern Tuscans supports the near eastern origin of Etruscans". American Journal of Human Genetics 80(4):759-768.
Achilli, A., Perego, U. A., Bravi, C. M., Coble, M. D., Kong, Q. P., Woodward, S. R., Salas, A., Torroni, A. and Bandelt, H. J. (2008). "The phylogeny of the four pan-American MtDNA haplogroups: implications for evolutionary and disease studies." PLoS ONE 3(3):e1764.
Achilli, A., Rengo, C., Battaglia, V., Pala, M., Olivieri, A., Fornarino, S., Magri, C., Scozzari, R., Babudri, N., Santachiara-Benerecetti, A. S., Bandelt, H. J., Semino, O. and Torroni, A. (2005). "Saami and Berbers--an unexpected mitochondrial DNA link." American Journal of Human Genetics 76(5):883-886.
Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., et al. (2004). "The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool." American Journal of Human Genetics 75(5):910-918.
Acin-Perez, R., Bayona-Bafaluy, M. P., Fernandez-Silva, P., Moreno-Loshuertos, R., Perez-Martos, A., Bruno, C., Moraes, C. T. and Enriquez, J. A. (2004). "Respiratory complex III is required to maintain complex I in mammalian mitochondria." Molecular Cell 13(6):805-815.
Adachi, K., Fujiura, Y., Mayumi, F., Nozuhara, A., Sugiu, Y., Sakanashi, T., Hidaka, T. and Toshima, H. (1993). "A deletion of mitochondrial DNA in murine doxorubicin-induced cardiotoxicity." Biochemical and Biophysical Research Communications 195(2):945-951.
Adams, J. H., Blackwood, W. and Wilson, J. (1966). "Further clinical and pathological observations on Leber's optic atrophy." Brain 89(1):15-26.
Adams, K. L. and Palmer, J. D. (2003). "Evolution of mitochondrial gene content: gene loss and transfer to the nucleus." Molecular Phylogenetics and Evolution 29(3):380-395.
Adams, V., Griffin, L., Towbin, J., Gelb, B., Worley, K. and McCabe, E. R. (1991). "Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane." Biochemical Medicine and Metabolic Biology 45(3):271-291.
Adamson, G. M. and Billings, R. E. (1992). "Tumor necrosis factor induced oxidative stress in isolated mouse hepatocytes." Archives of Biochemistry and Biophysics 294(1):223-229.
Adhihetty, P. J., Irrcher, I., Joseph, A. M., Ljubicic, V. and Hood, D. A. (2003). "Plasticity of skeletal muscle mitochondria in response to contractile activity." Experimental Physiology 88(1):99-107.
Adhihetty, P. J., Taivassalo, T., Haller, R. G., Walkinshaw, D. R. and Hood, D. A. (2007). "The effect of training on the expression of mitochondrial biogenesis- and apoptosis-related proteins in skeletal muscle of patients with mtDNA defects." American Journal of Physiology. Endocrinology and Metabolism. 293(3):E672-E680.
Afifi, A. K., Ibrahim, M. Z., Bergman, R. A., Haydar, N. A., Mire, J., Bahuth, N. and Kaylani, F. (1972). "Morphologic features of hypermetabolic mitochondrial disease. A light microscopic, histochemical and electron microscopic study." Journal of the Neurological Sciences 15(3):271-290.
Agarwal, R. P. and Olivero, O. A. (1997). "Genotoxicity and mitochondrial damage in human lymphocytic cells chronically exposed to 3'-azido-2',3'-dideoxythymidine." Mutation Research 390(3):223-231.
Agostino, A., Valletta, L., Chinnery, P. F., Ferrari, G., Carrara, F., Taylor, R. W., Schaefer, A. M., Turnbull, D. M., Tiranti, V. and Zeviani, M. (2003). "Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)." Neurology 60(8):1354-1356.
Agris, P. F. (1996). "The importance of being modified: roles of modified nucleosides and Mg2+ in RNA structure and function." Progress in Nucleic Acid Research and Molecular biology 53:79-129.
Aguilera, I., Garcia-Lozano, J. R., Bautista, J., Campos, Y., Arenas, J. and Nunez-Roldan, A. (1999). "A novel missense mutation 15747 T>C in the mitochondrial cytochrome b gene." Human Mutation (Online) 14(6):545.
Ahadi, A. M., Sadeghizadeh, M., Houshmand, M., Gharagoozli, K., Banoei, M. M. and Panahai, M. S. (2008). "An A8296G mutation in the MT-TK gene of a patient with epilepsy - a disease-causing mutation or rare polymorphism?" Neurologia i Neurochirurgia Polska 42(3):263-266.
Ahadi, A. M., Sadeghizadeh, M., Houshmand, M., Gharagoozli, K., Banoei, M. M. and Panahai, M. S. (2008). "An A8296G mutation in the MT-TK gene of a patient with epilepsy - a disease-causing mutation or rare polymorphism?" Neurologia i Neurochirurgia Polska 42(3):263-266.
Ahmed, I. and Krishnamoorthy, G. (1992). "The non-equivalence of binding sites of coenzyme quinone and rotenone in mitochondrial NADH-CoQ reductase." FEBS Letters 300:275-278.
Aimar-Beurton, M., Korzeniewski, B., Letellier, T., Ludinard, S., Mazat, J. P. and Nazaret, C. (2002). "Virtual mitochondria: metabolic modelling and control." Molecular Biology Reports 29(1-2):227-232.
Aitken, R. J., Baker, M. A. and Sawyer, D. (2003). "Oxidative stress in the male germ line and its role in the aetiology of male infertility and genetic disease." Reproductive Biomedicine Online 7(1):65-70.
Aitullina, A., Baumane, K., Zalite, S., Ranka, R., Zole, E., Pole, I., Sepetiene, S., Laganovska, G., Baumanis, V. and Pliss, L. (2013). "Point mutations associated with Leber hereditary optic neuropathy in a Latvian population." Molecular Vision 19:2343-2351.
Akabane, S., Ueda, T., Nierhaus, K. H. and Takeuchi, N. (2014). "Ribosome rescue and translation termination at non-standard stop codons by ICT1 in mammalian mitochondria." PLoS Genetics 10(9):e1004616.
Akagi, M., Inui, K., Tsukamoto, H., Sakai, N., Muramatsu, T., Yamada, M., Matsuzaki, K., Goto, Y., Nonaka, I. and Okada, S. (2002). "A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome." Neuromuscular Disorders 12(1):53-55.
Akita, Y., Koga, Y., Iwanaga, R., Wada, N., Tsubone, J., Fukuda, S., Nakamura, Y. and Kato, H. (2000). "Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene." Human Mutation 15(4):382.
Akiyama, S., Endo, H., Inohara, N., Ohta, S. and Kagawa, Y. (1994). "Gene structure and cell type-specific expression of the human ATP synthase alpha subunit." Biochimica et Biophysica Acta 1219(1):129-140.
Al-Abri, A., Podgorna, E., Rose, J. I., Pereira, L., Mulligan, C. J., Silva, N. M., Bayoumi, R., Soares, P. and Cerny, V. (2012). "Pleistocene-Holocene boundary in Southern Arabia from the perspective of human mtDNA variation". American Journal of Physical Anthropology 149(2):291-298.
Al-Dosary, M., Whittaker, R. G., Haughton, J., McFarland, R., Goodship, J., Turnbull, D. M. and Taylor, R. W. (2009). "Neuromuscular disease presentation with three genetic defects involving two genomes." Neuromuscular Disorders 19(12):841-844.
Al-Kafaji, G., Alharbi, M. A., Alkandari, H., Salem, A. H. and Bakhiet, M. (2022). "Analysis of the entire mitochondrial genome reveals Leber's hereditary optic neuropathy mitochondrial DNA mutations in an Arab cohort with multiple sclerosis." Scientific Reports 12(1):11099.
Al-Kafaji, G., Bakheit, H. F., AlAli, F., Fattah, M., Alhajeri, S., Alharbi, M. A., Daif, A., Alsabbagh, M. M., Alwehaidah, M. S. and Bakhiet, M. (2022). "Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis." PLoS ONE 17:e0263606.
Aldosary, M., Al-Bakheet, A., Al-Dhalaan, H., Almass, R., Alsagob, M., et al. (2020). "Rett Syndrome, a neurodevelopmental disorder, whole-transcriptome, and mitochondrial genome multiomics analyses identify novel variations and disease pathways." OMICS 24(3):160-171.
Alharbi, M. A., Al-Kafaji, G., Khalaf, N. B., Messaoudi, S. A., Taha, S., Daif, A. and Bakhiet, M. (2019). "Four novel mutations in the mitochondrial ND4 gene of complex I in patients with multiple sclerosis." Biomedical Reports 11(6):257-268.
Alkhaldi, H. A., Phan, D. H. and Vik, S. B. (2022). "Analysis of human clinical mutations of mitochondrial ND1 in a bacterial model system for complex I." Life 12(11):1934.
Al Zoubi, M. S., Al-Batayneh, K., Alsmadi, M., Rashed, M., Al-Trad, B., Al Khateeb, W., Aljabali, A., Otoum, O., Al-Talib, M. and Batiha, O. (2020). "4,977-bp human mitochondrial DNA deletion is associated with asthenozoospermic infertility in Jordan." Andrologia 52(1):e13379.
Alavi, M. V., Bette, S., Schimpf, S., Schuettauf, F., Schraermeyer, U., Wehrl, H. F., Ruttiger, L., Beck, S. C., Tonagel, F., Pichler, B. J., Knipper, M., Peters, T., Laufs, J. and Wissinger, B. (2007). "A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy." Brain 130(Pt 4):1029-1042.
Albin, R. L. (1998). "Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations." Journal of Medical Genetics 35(3):258-259.
Albring, M., Griffith, J. and Attardi, G. (1977). "Association of a protein structure of probable membrane derivation with HeLa cell mitochondrial DNA near its origin of replication." Proceedings of the National Academy of Sciences of the United States of America 74(4):1348-1352.
Alcolado, J. C. and Thomas, A. W. (1995). "Maternally inherited diabetes mellitus: the role of mitochondrial DNA defects." Diabetic Medicine 12(2):102-108.
Alcolado, J. C., Clark, P. M., Rees, A. and Hales, C. N. (1994). "Insulin resistance and impaired glucose tolerance [letter; comment]." Lancet 344(8932):1293-1294.
Alcolado, J. C., Laji, K. and Gill-Randall, R. (2002). "Maternal transmission of diabetes." Diabetic Medicine 19(2):89-98.
Alcolado, J. C., Majid, A., Brockington, M., Sweeney, M. G., Morgan, R., Rees, A., Harding, A. E. and Barnett, A. H. (1994). "Mitochondrial gene defects in patients with NIDDM." Diabetologia 37(4):372-376.
Alexe, G., Fuku, N., Bilal, E., Ueno, H., Nishigaki, Y., Fujita, Y., Ito, M., Arai, Y., Hirose, N., Bhanot, G. and Tanaka, M. (2007). "Enrichment of longevity phenotype in mtDNA haplogroups D4b2b, D4a, and D5 in the Japanese population." Human Genetics 121(3-4):347-356.
Alexeyev, M. (2020). "Mitochondrial DNA: the common confusions." Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis 31(2):45-47.
Alexeyev, M. F., Venediktova, N., Pastukh, V., Shokolenko, I., Bonilla, G. and Wilson, G. L. (2008). "Selective elimination of mutant mitochondrial genomes as therapeutic strategy for the treatment of NARP and MILS syndromes." Gene Therapy 15(7):516-523.
Ali, S. T., Duncan, A. M., Schappert, K., Heng, H. H., Tsui, L. C., Chow, W. and Robinson, B. H. (1993). "Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13." Genomics 18(2):435-439.
Aliev, G., Li, Y., Palacios, H. H. and Obrenovich, M. E. (2011). "Oxidative stress induced mitochondrial DNA deletion as a hallmark for the drug development in the context of the cerebrovascular diseases." Recent Patents on Cardiovascular Drug Discovery 6(3):222-241.
Aliev, G., Seyidova, D., Lamb, B. T., Obrenovich, M. E., Siedlak, S. L., Vinters, H. V., Friedland, R. P., LaManna, J. C., Smith, M. A. and Perry, G. (2003). "Mitochondria and vascular lesions as a central target for the development of Alzheimer's disease and Alzheimer disease-like pathology in transgenic mice." Neurological Research 25(6):665-674.
Alikani, M., Fauser, B. C. J., Garcia-Valesco, J. A., Simpson, J. L. and Johnson, M. H. (2017). "First birth following spindle transfer for mitochondrial replacement therapy: hope and trepidation." Reproductive Biomedicine Online 34(4):333-336.
Alila-Fersi, O., Tabebi, M., Maalej, M., Belguith, N., Keskes, L., Mkaouar-Rebai, E. and Fakhfakh, F. (2018). "First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy." Biochemical and Biophysical Research Communications 497(4):1049-1054.
Aliyev, A., Chen, S. G., Seyidova, D., Smith, M. A., Perry, G., de la Torre, J. and Aliev, G. (2005). "Mitochondria DNA deletions in atherosclerotic hypoperfused brain microvessels as a primary target for the development of Alzheimer's disease". Journal of the Neurological Sciences 229-230:285-292.
Alizadeh, A. A., Eisen, M. B., Davis, R. E., Ma, C., Lossos, I. S., et al. (2000). "Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling [see comments]." Nature 403(6769):503-511.
Allan, C. J., Argyropoulos, G., Bowker, M., Zhu, J., Lin, P. M., Stiver, K., Golichowski, A. and Garvey, W. T. (1997). "Gestational diabetes mellitus and gene mutations which affect insulin secretion." Diabetes Research & Clinical Practice 36(3):135-141.
Allard, M. W., Miller, K., Wilson, M., Monson, K. and Budowle, B. (2002). "Characterization of the Caucasian haplogroups present in the SWGDAM forensic mtDNA dataset for 1771 human control region sequences. Scientific Working Group on DNA Analysis Methods." Journal of Forensic Sciences 47(6):1215-1223.
Alonso, A., Martin, P., Albarran, C., Aquilera, B., Garcia, O., Guzman, A., Oliva, H. and Sancho, M. (1997). "Detection of somatic mutations in the mitochondrial DNA control region of colorectal and gastric tumors by heteroduplex and single-strand conformation analysis." Electrophoresis 18(5):682-685.
Alonso, A., Salas, A., Albarran, C., Arroyo, E., Castro, A., et al. (2002). "Results of the 1999-2000 collaborative exercise and proficiency testing program on mitochondrial DNA of the GEP-ISFG: an inter-laboratory study of the observed variability in the heteroplasmy level of hair from the same donor." Forensic Science International 125(1):1-7.
Alston, C. L., Bender, A., Hargreaves, I. P., Mundy, H., Deshpande, C., Klopstock, T., McFarland, R., Horvath, R. and Taylor, R. W. (2010). "The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype." Neuromuscular Disorders 20(6):403-406.
Alston, C. L., He, L., Morris, A. A., Hughes, I., de Goede, C., Turnbull, D. M., McFarland, R. and Taylor, R. W. (2011). "Maternally inherited mitochondrial DNA disease in consanguineous families". European Journal of Human Genetics 19(12):1226-1229.
Alston, C. L., Lowe, J., Turnbull, D. M., Maddison, P. and Taylor, R. W. (2010). "A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle." Journal of the Neurological Sciences 298(1-2):140-144.
Alston, C. L., Morak, M., Reid, C., Hargreaves, I. P., Pope, S. A., Land, J. M., Heales, S. J., Horvath, R., Mundy, H. and Taylor, R. W. (2010). "A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy." Neuromuscular Disorders 20(2):131-135.
Altmann, J., Buchner, B., Nadaj-Pakleza, A., Schafer, J., Jackson, S., Lehmann, D., Deschauer, M., Kopajtich, R., Lautenschlager, R., Kuhn, K. A., Karle, K., Schols, L., Schulz, J. B., Weis, J., Prokisch, H., Kornblum, C., Claeys, K. G. and Klopstock, T. (2016). "Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry." Journal of Neurology 263(5):961-972.
Altunbasak, S., Bingol, G., Ozbarlas, N., Akcoren, Z. and Herguner, O. (1998). "Kearns-Sayre syndrome. A case report." Turkish Journal of Pediatrics 40(2):255-259.
Alvarez, V., Corao, A. I., Sanchez-Ferrero, E., De Mena, L., Alonso-Montes, C., Huerta, C., Blazquez, M., Ribacoba, R., Guisasola, L. M., Salvador, C., Garcia-Castro, M. and Coto, E. (2008). "Mitochondrial transcription factor A (TFAM) gene variation in Parkinson's disease." Neuroscience Letters 432(1):79-82.
Alvarez-Iglesias, V., Barros, F., Carracedo, A. and Salas, A. (2008). "Minisequencing mitochondrial DNA pathogenic mutations." BMC Medical Genetics 9:26.
Alvarez-Iglesias, V., Mosquera-Miguel, A., Cerezo, M., Quintans, B., Zarrabeitia, M. T., Cusco, I., Lareu, M. V., Garcia, O., Perez-Jurado, L., Carracedo, A. and Salas, A. (2009). "New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0". PLoS ONE 4(4):e5112.
Alves-Silva, J., da Silva Santos, M., Guimaraes, P. E., Ferreira, A. C., Bandelt, H. J., Pena, S. D. and Prado, V. F. (2000). "The ancestry of Brazilian mtDNA lineages." American Journal of Human Genetics 67(2):444-461.
Alves-Silva, J., Guimaraes, P. E., Rocha, J., Pena, S. D. and Prado, V. F. (1999). "Identification in Portugal and Brazil of a mtDNA lineage containing a 9-bp triplication of the intergenic COII/tRNALys region." Human Heredity 49(1):56-58.
Alves-Silva, J., Santos, M. S., Pena, S. D. and Prado, V. F. (1999). "Multiple geographic sources of region V 9-bp deletion haplotypes in Brazilians." Human Biology 71(2):245-259.
Alves, R. M., da Silva Costa, S. M., do Amor Divino Miranda, P. M., Ramos, P. Z., Marconi, T. G., Santos Oliveira, G., Castilho, A. M. and Sartorato, E. L. (2016). "Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry." BMC Medical Genetics 17(1):41.
Alwehaidah, M. S., Bakhiet, M. and AlFadhli, S. (2021). "Mitochondrial haplogroup reveals the genetic basis of diabetes mellitus type 2 comorbidity in psoriasis." Medical Principles and Practice 30(1):62-68.
Amar, S., Shamir, A., Ovadia, O., Blanaru, M., Reshef, A., Kremer, I., Rietschel, M., Schulze, T. G., Maier, W., Belmaker, R. H., Ebstein, R. P., Agam, G. and Mishmar, D. (2007). "Mitochondrial DNA HV lineage increases the susceptibility to schizophrenia among Israeli Arabs." Schizophrenia Research 94(1-3):354-358.
Amara, C. E., Shankland, E. G., Jubrias, S. A., Marcinek, D. J., Kushmerick, M. J. and Conley, K. E. (2007). "Mild mitochondrial uncoupling impacts cellular aging in human muscles in vivo." Proceedings of the National Academy of Sciences of the United States of America 104(3):1057-1062.
Amaral-Fernandes, M. S., Marcondes, A. M., Miranda, P. M., Maciel-Guerra, A. T. and Sartorato, E. L. (2011). "Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy". Molecular Vision 17:3175-3179.
Amati-Bonneau, P., Valentino, M. L., Reynier, P., Gallardo, M. E., Bornstein, B., et al. (2008). "OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes." Brain 131(Pt 2):338-351.
Amemiya, S., Hamamoto, M., Goto, Y., Komaki, H., Nishino, I., Nonaka, I. and Katayama, Y. (2000). "Psychosis and progressing dementia: presenting features of a mitochondriopathy." Neurology 55(4):600-601.
Amerik, A., Petukhova, G. V., Grigorenko, V. G., Lykov, I. P., Yarovoi, S. V., Lipkin, V. M. and Gorbalenya, A. E. (1994). "Cloning and sequence analysis of cDNA for a human homolog of eubacterial ATP-dependent Lon proteases." FEBS Letters 340(1-2):25-28.
Ames, B. N., Shigenaga, M. K. and Hagen, T. M. (1993). "Oxidants, antioxidants, and the degenerative diseases of aging." Proceedings of the National Academy of Sciences of the United States of America 90(17):7915-7922.
Ames, B. N., Shigenaga, M. K. and Hagen, T. M. (1995). "Mitochondrial decay in aging." Biochimica et Biophysica Acta 1271(1):165-170.
Ammar, M., Tabebi, M., Sfaihi, L., Alila-Fersi, O., Maalej, M., Felhi, R., Chabchoub, I., Keskes, L., Hachicha, M., Fakhfakh, F. and Mkaouar-Rebai, E. (2016). "Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene." Biochemical and Biophysical Research Communications 474(4):702-708.
Amo, T. and Brand, M. D. (2007). "Were inefficient mitochondrial haplogroups selected during migrations of modern humans? A test using modular kinetic analysis of coupling in mitochondria from cybrid cell lines." The Biochemical Journal 404(2):345-351.
Amo, T., Yadava, N., Oh, R., Nicholls, D. G. and Brand, M. D. (2008). "Experimental assessment of bioenergetic differences caused by the common European mitochondrial DNA haplogroups H and T." Gene 411(1-2):69-76.
Amore, G., Romagnoli, M., Carbonelli, M., Barboni, P., Carelli, V. and La Morgia, C. (2021). "Therapeutic options in hereditary optic neuropathies." Drugs 81(1):57-86.
Amritkumar, P. and Srisailapathy, C. R. S. (2021). "Screening for mitochondrial A1555G mutation among aassortative mating hearing impaired families in South India: some vital insights " New Frontiers in Medicine and Medical Research 1:17-27; https://doi.org/10.9734/bpi/nfmmr/v9731/3292F
Amunts, A., Brown, A., Toots, J., Scheres, S. H. and Ramakrishnan, V. (2015). "Ribosome. The structure of the human mitochondrial ribosome." Science 348(6230):95-98.
Anan, R., Nakagawa, M., Miyata, M., Higuchi, I., Nakao, S., Suehara, M., Osame, M. and Tanaka, H. (1995). "Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defect [see Comment: Circulation 15:91(4):1266-1268]." Circulation 91(4):955-961.
Andalib, S., Talebi, M., Sakhinia, E., Farhoudi, M., Sadeghi-Bazargani, H., Emamhadi, M. R., Masoodian, N., Balaghi-Inalou, M., Vafaee, M. S. and Gjedde, A. (2017). "Mitochondrial DNA G13708A variation and multiple sclerosis: Is there an association?" Revue Neurologique (Paris) 173(3):164-168.
Anderson, C., T. and Friedberg, E. C. (1980). "The presence of nuclear and mitochondrial uracil-DNA glycosylase in extracts of human KB cells." Nucleic Acids Research 8(4):875-888.
Anderson, E. C. and Novembre, J. (2003). "Finding haplotype block boundaries by using the minimum-description-length principle." American Journal of Human Genetics 73(2):336-354.
Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J., Staden, R. and Young, I. G. (1981). "Sequence and organization of the human mitochondrial genome." Nature 290(5806):457-465.
Anderson, S., deBruijn, M. H. L., Coulson, A. R., Eperon, I. C., Sanger, F. and Young, I. G. (1982). "Complete sequence of bovine mitochondrial DNA. Conserved features of the mammalian mitochondrial genome." Journal of Molecular Biology 156(4):683-717.
Andersson, S. G., Zomorodipour, A., Andersson, J. O., Sicheritz-Ponten, T., Alsmark, U. C., Podowski, R. M., Naslund, A. K., Eriksson, A. S., Winkler, H. H. and Kurland, C. G. (1998). "The genome sequence of Rickettsia prowazekii and the origin of mitochondria [see comments]." Nature 396(6707):133-140.
Andre, P., Kim, A., Khrapko, K. and Thilly, W. G. (1997). "Fidelity and mutational spectrum of Pfu DNA polymerase on a human mitochondrial DNA sequence." Genome Research 7(8):843-852.
Andreassi, M. G. (2003). "Coronary atherosclerosis and somatic mutations: an overview of the contributive factors for oxidative DNA damage." Mutation Research 543(1):67-86.
Andres, M. P., Cardena, M., Fridman, C. and Podgaec, S. (2018). "Polymorphisms of mitochondrial DNA control region are associated to endometriosis." Journal of Assisted Reproduction and Genetics 35(3):533-538.
Andreu, A. L. and DiMauro, S. (2003). "Current classification of mitochondrial disorders." Journal of Neurology 250(12):1403-1406.
Andreu, A. L., Bruno, C., Dunne, T. C., Tanji, K., Shanske, S., Sue, C. M., Krishna, S., Hadjigeorgiou, G. M., Shtilbans, A., Bonilla, E. and DiMauro, S. (1999). "A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria." Annals of Neurology 45(1):127-130.
Andreu, A. L., Bruno, C., Hadjigeorgiou, G. M., Shanske, S. and DiMauro, S. (1999). "Polymorphic variants in the human mitochondrial cytochrome b gene." Molecular Genetics and Metabolism 67(1):49-52.
Andreu, A. L., Bruno, C., Shanske, S., Shtilbans, A., Hirano, M., Krishna, S., Hayward, L., Systrom, D. S., Brown, R. H., Jr. and DiMauro, S. (1998). "Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy." Neurology 51(5):1444-1447.
Andreu, A. L., Checcarelli, N., Iwata, S., Shanske, S. and DiMauro, S. (2000). "A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy." Pediatric Research 48(3):311-314.
Andreu, A. L., Hanna, M. G., Reichmann, H., Bruno, C., Penn, A. S., Tanji, K., Pallotti, F., Iwata, S., Bonilla, E., Lach, B., Morgan-Hughes, J. and DiMauro, S. (1999). "Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA [see comments]." New England Journal of Medicine 341(14):1037-1044.
Andreu, A. L., Marti, R. and Hirano, M. (2003). "Analysis of human mitochondrial DNA mutations." Methods in Molecular Biology 217:185-197.
Andreu, A. L., Tanji, K., Bruno, C., Hadjigeorgiou, G. M., Sue, C. M., Jay, C., Ohnishi, T., Shanske, S., Bonilla, E. and DiMauro, S. (1999). "Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene." Annals of Neurology 45(6):820-823.
Andrews, R. G., Takahashi, M., Segal, G. M., Powell, J. S., Bernstein, I. D. and Singer, J. W. (1986). "The L4F3 antigen is expressed by unipotent and multipotent colony-forming cells but not by their precursors." Blood 68(5):1030-1035.
Andrews, R. M., Kubacka, I., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M. and Howell, N. (1999). "Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA [letter]." Nature Genetics 23(2):147.
Andrews, R. M., McNeela, B. J., Reading, P., Griffiths, P. G., Chinnery, P. F. and Turnbull, D. M. (1999). "Mitochondrial DNA disease masquerading as age-related mascular degeneration." Eye 13(Pt 4):595-596.
Angeli, S. I., Liu, X. Z., Yan, D., Balkany, T. and Telischi, F. (2005). "Coenzyme Q-10 treatment of patients with a 7445A--->G mitochondrial DNA mutation stops the progression of hearing loss." Acta Oto-Laryngologica 125(5):510-512.
Angural, A., Sharma, I., Pandoh, P., Sharma, V., Spolia, A., Rai, E., Singh, V., Razdan, S., Pandita, K. K. and Sharma, S. (2019). "A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications." Mitochondrion 46:209-213.
Anholt, R. R. H. (1986). "Mitochondrial benzodiazepine receptors as potential modulators of intermediary metabolism." Trends in Pharmacology 7:506-511.
Anholt, R. R. H., Pedersen, P. L., De Souza, E. B. and Snyder, S. H. (1986). "The peripheral-type benzodiazepine receptor. Localization to the mitochondrial outer membrane." Journal of Biological Chemistry 261(2):576-583.
Anitori, R., Manning, K., Quan, F., Weleber, R. G., Buist, N. R., Shoubridge, E. A. and Kennaway, N. G. (2005). "Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes." Molecular Genetics and Metabolism 84(2):176-188.
Annunen-Rasila, J., Finnila, S., Mykkanen, K., Moilanen, J. S., Veijola, J., Poyhonen, M., Viitanen, M., Kalimo, H. and Majamaa, K. (2006). "Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL." Neurogenetics 7(3):185-194.
Ankel-Simons, F. and Cummins, J. M. (1996). "Misconceptions about mitochondria and mammalian fertilization: implications for theories on human evolution." Proceedings of the National Academy of Sciences of the United States of America 93(24):13859-13863.
Anonymous (1993). "The fifth report of the Joint National Committee on Detection, Evaluation, and Treatment of High Blood Pressure." Archives of Internal Medicine 153(2):154-183.
Anonymous (1996). "Simple minds and complex traits." Nature Genetics 13(2):131-132.
Anonymous (1996). "To affinity ... and beyond!" Nature Genetics 14(4):367-370.
Anonymous (1997). "Mitochondrial encephalomyopathies: gene mutation." Neuromuscular Disorders 7(6-7):XIII-XIX.
Anonymous (1997). "Molecular medicine: a primer for clinicians Part. XI: Clinical implications of the new genetics-II." South Dakota Journal of Medicine 50(12):445-448.
Anonymous (1998). "52nd ENMC International Workshop: International Consortium on Nucleo-mitochondrial Interactions. 4-6 July 1997, Naarden, The Netherlands." Neuromuscular Disorders 8(1):57-58.
Anonymous (1998). "Mitochondrial encephalomyopathies: gene mutation." Neuromuscular Disorders 8(1):XIII-XIX.
Anonymous (1998). "Mitochondrial encephalomyopathies: gene mutation." Neuromuscular Disorders 8(7):VIII-XI.
Anonymous (2003). "Mitochondrial encephalomyopathies: gene mutation." Neuromuscular Disorders 13(3):277-282.
Anselm, I. A. and Darras, B. T. (2006). "Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial." Neurology 67(7):1313; author reply 1313.
Anson, R. M., Croteau, D. L., Stierum, R. H., Filburn, C., Parsell, R. and Bohr, V. A. (1998). "Homogenous repair of singlet oxygen-induced DNA damage in differentially transcribed regions and strands of human mitochondrial DNA." Nucleic Acids Research 26(2):662-668.
Anthony, G., Reimann, A. and Kadenbach, B. (1993). "Tissue-specific regulation of bovine heart cytochrome-c oxidase activity by ADP via interaction with subunit VIa." Proceedings of the National Academy of Sciences of the United States of America 90(5):1652-1656.
Antonenkov, V. D. and Panchenko, L. F. (1988). "Effect of chronic ethanol treatment under partial catalase inhibition on the activity of enzymes related to peroxide metabolism in rat liver and heart." International Journal of Biochemistry 20(8):823-828.
Antonenkov, V. D., Pirozhkov, S. V., Popova, S. V. and Panchenko, L. F. (1989). "Effect of chronic ethanol, catalase inhibitor 3-amino-1,2,4-triazole and clofibrate treatment on lipid peroxidation in rat myocardium." International Journal of Biochemistry 21(12):1313-1318.
Antonicka, H., Mattman, A., Carlson, C. G., Glerum, D. M., Hoffbuhr, K. C., Leary, S. C., Kennaway, N. G. and Shoubridge, E. A. (2003). "Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy." American Journal of Human Genetics 72(1):101-114.
Antonicka, H., Ogilvie, I., Taivassalo, T., Anitori, R. P., Haller, R. G., Vissing, J., Kennaway, N. G. and Shoubridge, E. A. (2003). "Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency." Journal of Biological Chemistry 278(44):43081-43088.
Antonsson, B., Conti, F., Ciavatta, A., Montessuit, S., Lewis, S., Martinou, I., Bernasconi, L., Bernard, A., Mermod, J. J., Mazzei, G., Maundrell, K., Gambale, F., Sadoul, R. and Martinou, J. C. (1997). "Inhibition of Bax channel-forming activity by Bcl-2." Science 277(5324):370-372.
Antozzi, C. and Zeviani, M. (1997). "Cardiomyopathies in disorders of oxidative metabolism." Cardiovascular Research 35(2):184-199.
Apte, S. S., Mattei, M. G. and Olsen, B. R. (1995). "Mapping of the human BAX gene to chromosome 19q13.3-q13.4 and isolation of a novel alternatively spliced transcript, BAX delta." Genomics 26(3):592-594.
Aquadro, C. F. and Greenberg, B. D. (1983). "Human mitochondrial DNA variation and evolution: analysis of nucleotide sequences from seven individuals." Genetics 103(2):287-312.
Araghi-Niknam, M., Ardestani, S. K., Molitor, M., Inserra, P., Eskelson, C. D. and Watson, R. R. (1998). "Dehydroepiandrosterone (DHEA) sulfate prevents reduction in tissue vitamin E and increased lipid peroxidation due to murine retrovirus infection of aged mice." Proceedings of the Society for Experimental Biology and Medicine 218(3):210-217.
Arai, M. and Ohshima, S. (1997). "Maternally inherited diabetes and deafness with cerebellar ataxia: a new clinical phenotype associated with the mitochondrial DNA 3243 mutation [letter]." Journal of Neurology 244(7):468-469.
Arai, T., Nakahara, K., Matsuoka, H., Sawabe, M., Chida, K., Matsushita, S., Takubo, K., Honma, N., Nakamura, K., Izumiyama, N. and Esaki, Y. (2003). "Age-related mitochondrial DNA deletion in human heart: its relationship with cardiovascular diseases." Aging-Clinical and Experimental Research 15(1):1-5.
Aral, C., Akkiprik, M., Caglayan, S., Atabey, Z., Ozisik, G., Bekiroglu, N. and Ozer, A. (2011). "Investigation of relationship of the mitochondrial DNA 16189 T>C polymorphism with metabolic syndrome and its associated clinical parameters in Turkish patients". Hormones (Athens) 10(4):298-303.
Aral, C., Kaya, H., Ataizi-Celikel, C., Akkiprik, M., Sonmez, O., Gulluoglu, B. M. and Ozer, A. (2006). "A novel approach for rapid screening of mitochondrial D310 polymorphism." BMC Cancer 6:21.
Aras, S., Purandare, N., Gladyck, S., Somayajulu-Nitu, M., Zhang, K., Wallace, D. C. and Grossman, L. I. (2020). "Mitochondrial Nuclear Retrograde Regulator 1 (MNRR1) rescues the cellular phenotype of MELAS by inducing homeostatic mechanisms." Proceedings of the National Academy of Sciences of the United States of America 117(50):32056-32065.
Arbustini, E., Diegoli, M., Fasani, R., Grasso, M., Morbini, P., Banchieri, N., Bellini, O., Dal Bello, B., Pilotto, A., Magrini, G., Campana, C., Fortina, P., Gavazzi, A., Narula, J. and Vigano, M. (1998). "Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy." American Journal of Pathology 153(5):1501-1510.
Arbustini, E., Fasani, R., Morbini, P., Diegoli, M., Grasso, M., Dal Bello, B., Marangoni, E., Banfi, P., Banchieri, N., Bellini, O., Comi, G., Narula, J., Campana, C., Gavazzi, A., Danesino, C. and Vigano, M. (1998). "Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure [published erratum appears in Heart 1999 Mar;81(3):330]." Heart 80(6):548-558.
Ardissino, D., Merlini, P. A., Savonitto, S., Demicheli, G., Zanini, P., Bertocchi, F., Falcone, C., Ghio, S., Marinoni, G., Montemartini, C. and Mussini, A. (1997). "Effect of transdermal nitroglycerin or N-acetylcysteine, or both, in the long-term treatment of unstable angina pectoris." Journal of the American College of Cardiology 29(5):941-947.
Arenas, J., Campos, Y., Bornstein, B., Ribacoba, R., Martin, M. A., Rubio, J. C., Santorelli, F. M., Zeviani, M., DiMauro, S. and Garesse, R. (1999). "A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers." Neurology 52(2):377-382.
Arenas, J., Campos, Y., Ribacoba, R., Martin, M. A., Rubio, J. C., Ablanedo, P. and Cabello, A. (1998). "Complex I defect in muscle from patients with Huntington's disease." Annals of Neurology 43(3):397-400.
Argov, Z., Bank, W. J., Maris, J., Eleff, S., Kennaway, N. G., Olson, R. E. and Chance, B. (1986). "Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P-NMR follow-up study." Annals of Neurology 19(6):598-602.
Arizmendi, J. M., Skehel, J. M., Runswick, M. J., Fearnley, I. M. and Walker, J. E. (1992). "Complementary DNA sequences of two 14.5 kDa subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Complementation of the primary structure of the complex?" FEBS Letters 313:80-84.
Armand, R., Channon, J. Y., Kintner, J., White, K. A., Miselis, K. A., Perez, R. P. and Lewis, L. D. (2004). "The effects of ethidium bromide induced loss of mitochondrial DNA on mitochondrial phenotype and ultrastructure in a human leukemia T-cell line (MOLT-4 cells)." Toxicology and Applied Pharmacology 196(1):68-79.
Armstrong, M., Daly, A. K., Cholerton, S., Bateman, D. N. and Idle, J. R. (1992). "Mutant debrisoquine hydroxylation genes in Parkinson's disease." Lancet 339(8800):1017-1018.
Arnason, E. (2003). "Genetic heterogeneity of Icelanders." Annals of Human Genetics 67(Pt 1):5-16.
Arnason, E., Sigurgislason, H. and Benedikz, E. (2000). "Genetic homogeneity of Icelanders: fact or fiction?" Nature Genetics 25(4):373-374.
Arnason, U. and Johnsson, E. (1992). "The complete mitochondrial DNA sequence of the harbor seal, Phoca vitulina." Journal of Molecular Evolution 34(6):493-505.
Arnason, U., Xu, X. and Gullberg, A. (1996). "Comparison between the complete mitochondrial DNA sequences of Homo and the common chimpanzee based on nonchimeric sequences." Journal of Molecular Evolution 42(2):145-152.
Arnaudo, E., Hirano, M., Seelan, R. S., Milatovich, A., Hsieh, C. L., Fabrizi, G. M., Grossman, L. I., Francke, U. and Schon, E. A. (1992). "Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase." Gene 119(2):299-305.
Arnestad, M., Opdal, S. H., Musse, M. A., Vege, A. and Rognum, T. O. (2002). "Are substitutions in the first hypervariable region of the mitochondrial DNA displacement-loop in sudden infant death syndrome due to maternal inheritance?" Acta Paediatrica 91(10):1060-1064.
Arnheim, N. and Cortopassi, G. (1992). "Deleterious mitochondrial DNA mutations accumulate in aging human tissues." Mutation Research 275(3-6):157-167.
Arning, L., Haghikia, A., Taherzadeh-Fard, E., Saft, C., Andrich, J., Pula, B., Hoxtermann, S., Wieczorek, S., Akkad, D. A., Perrech, M., Gold, R., Epplen, J. T. and Chan, A. (2010). "Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease". Journal of Molecular Medicine 88(4):431-436.
Arnold, R. S., Sun, C. Q., Richards, J. C., Grigoriev, G., Coleman, I. M., Nelson, P. S., Hsieh, C. L., Lee, J. K., Xu, Z., Rogatko, A., Osunkoya, A. O., Zayzafoon, M., Chung, L. and Petros, J. A. (2009). "Mitochondrial DNA mutation stimulates prostate cancer growth in bone stromal environment." Prostate 69(1):1-11.
Arnold, S. and Kadenbach, B. (1997). "Cell respiration is controlled by ATP, an allosteric inhibitor of cytochrome-c oxidase." European Journal of Biochemistry 249(1):350-354.
Arnold, S. and Kadenbach, B. (1999). "The intramitochondrial ATP/ADP-ratio controls cytochrome c oxidase activity allosterically." FEBS Letters 443(2):105-108.
Aronsen, G. P., Fehren-Schmitz, L., Krigbaum, J., Kamenov, G. D., Conlogue, G. J., Warinner, C., Ozga, A. T., Sankaranarayanan, K., Griego, A., DeLuca, D. W., Eckels, H. T., Byczkiewicz, R. K., Grgurich, T., Pelletier, N. A., Brownlee, S. A., Marichal, A., Williamson, K., Tonoike, Y. and Bellantoni, N. F. (2019). ""The dead shall be raised": Multidisciplinary analysis of human skeletons reveals complexity in 19th century immigrant socioeconomic history and identity in New Haven, Connecticut." PLoS ONE 14(9):e0219279.
Arpa, J., Campos, Y., Gutierrez-Molina, M., Martin-Casanueva, M. A., Cruz-Martinez, A., Perez-Conde, M. C., Lopez-Pajares, R., Morales, M. C., Tatay, J., Lacasa, T., Barreiro, P. and Arenas, J. (1997). "Gene dosage effect in one family with myoclonic epilepsy and ragged-red fibers (MERRF)." Acta Neurologica Scandinavica 96(2):65-71.
Arpa, J., Cruz-Martinez, A., Campos, Y., Gutierrez-Molina, M., Garcia-Rio, F., Perez-Conde, C., Martin, M. A., Rubio, J. C., Del Hoyo, P., Arpa-Fernandez, A. and Arenas, J. (2003). "Prevalence and progression of mitochondrial diseases: a study of 50 patients." Muscle and Nerve 28(6):690-695.
Arts, W. F., Scholte, H. R., Bogaard, J. M., Kerrebijn, K. F. and Luyt-Houwen, I. E. (1983). "NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin [letter]." Lancet 2(8349):581-582.
Artuch, R., Pavia, C., Playan, A., Vilaseca, M. A., Colomer, J., Valls, C., Rissech, M., Gonzalez, M. A., Pou, A., Briones, P., Montoya, J. and Pineda, M. (1998). "Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome." Hormone Research 50(2):99-104.
Aryaman, J., Johnston, I. G. and Jones, N. S. (2017). "Mitochondrial DNA density homeostasis accounts for a threshold effect in a cybrid model of a human mitochondrial disease." Biochemical Journal 474(23):4019-4034.
Asanad, S., Meer, E., Tian, J. J., Fantini, M., Nassisi, M. and Sadun, A. A. (2019). "Leber's hereditary optic neuropathy: Severe vascular pathology in a severe primary mutation." Intractable and Rare Diseasea Research 8(1):52-55.
Asano, K., Suzuki, T., Saito, A., Wei, F. Y., Ikeuchi, Y., Numata, T., Tanaka, R., Yamane, Y., Yamamoto, T., Goto, T., Kishita, Y., Murayama, K., Ohtake, A., Okazaki, Y., Tomizawa, K., Sakaguchi, Y. and Suzuki, T. (2018). "Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease." Nucleic Acids Research 46(4):1565-1583.
Ashley, N., O'Rourke, A., Smith, C., Adams, S., Gowda, V., Zeviani, M., Brown, G. K., Fratter, C. and Poulton, J. (2008). "Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations." Human Molecular Genetics 17(16):2496-2506.
Asin-Cayuela, J. and Gustafsson, C. M. (2007). "Mitochondrial transcription and its regulation in mammalian cells." Trends in Biochemical Sciences 32(3):111-117.
Astrand, I., Astrand, P. O., Hallback, I. and Kilbom, A. (1973). "Reduction in maximal oxygen uptake with age." Journal of Applied Physiology 35(5):649-654.
Astrinidis, A. and Kouvatsi, A. (1994). "Mitochondrial DNA polymorphism in northern Greece." Human Biology 66(4):601-611.
Atamna, H. (2004). "Heme, iron, and the mitochondrial decay of ageing." Ageing Research Reviews 3(3):303-318.
Atilano, S. R., Chwa, M., Kim, D. W., Jordan, N., Udar, N., Coskun, P., Jester, J. V., Wallace, D. C. and Kenney, M. C. (2009). "Hydrogen peroxide causes mitochondrial DNA damage in corneal epithelial cells." Cornea 28(4):426-433.
Atilano, S. R., Coskun, P., Chwa, M., Jordan, N., Reddy, V., Le, K., Wallace, D. C. and Kenney, M. C. (2005). "Accumulation of mitochondrial DNA damage in keratoconus corneas." Investigative Ophthalmology and Visual Science 46(4):1256-1263.
Attardi, G. (1985). "Animal mitochondrial DNA: an extreme example of genetic economy." International Review of Cytology 93:93-145.
Attardi, G. (2002). "Role of mitochondrial DNA in human aging." Mitochondrion 2(1-2):27-37.
Attardi, G. and Montoya, J. (1983). "Analysis of human mitochondrial RNA." Methods in Enzymology 97(0):435-469.
Attardi, G. and Schatz, G. (1988). "Biogenesis of mitochondria." Annual Review of Cell Biology 4:289-333.
Attardi, G., Chomyn, A., Doolittle, R. F., Mariottini, P. and Ragan, C. I. (1986). "Seven unidentified reading frames of human mitochondrial DNA encode subunits of the respiratory chain NADH dehydrogenase." Cold Spring Harb Symp Quant Biol 1:103-114.
Attardi, G., Chomyn, A., Montoya, J. and Ojala, D. (1982). "Identification and mapping of human mitochondrial genes." Cytogenetics and Cell Genetics 32(1-4):85-98.
Attardi, G., Enriquez, J. A. and Cabezas-Herrera, J. (2002). "Inter-mitochondrial complementation of mtDNA mutations and nuclear context." Nature Genetics 30(4):360; author reply 361.
Attardi, G., Yoneda, M. and Chomyn, A. (1995). "Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems." Biochimica et Biophysica Acta 1271(1):241-248.
Attimonelli, M., Accetturo, M., Santamaria, M., Lascaro, D., Scioscia, G., Pappada, G., Russo, L., Zanchetta, L. and Tommaseo-Ponzetta, M. (2005). "HmtDB, a human mitochondrial genomic resource based on variability studies supporting population genetics and biomedical research." BMC Bioinformatics 6 Suppl 4:S4.
Attimonelli, M., Altamura, N., Benne, R., Boyen, C., Brennicke, A., et al. (1999). "MitBASE: a comprehensive and integrated mitochondrial DNA database." Nucleic Acids Research 27(1):128-133.
Attimonelli, M., Cooper, J. M., D'Elia, D., de Montalvo, A., De Robertis, M., Lehvaslaiho, H., Malladi, S. B., Memeo, F., Stevens, K., Schapira, A. H. and Saccone, C. (1999). "Update of the Human MitBASE database." Nucleic Acids Research 27(1):143-146.
Au, H. C., Ream-Robinson, D., Bellew, L. A., Broomfield, P. L., Saghbini, M. and Scheffler, I. E. (1995). "Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase." Gene 159(2):249-253.
Auch-Schwelk, W., Katusic, Z. S. and Vanhoutte, P. M. (1990). "Thromboxane A2 receptor antagonists inhibit endothelium-dependent contractions." Hypertension 15(6 Pt 2):699-703.
Audebert, M., Charbonnier, J. B., Boiteux, S. and Radicella, J. P. (2002). "Mitochondrial targeting of human 8-oxoguanine DNA glycosylase hOGG1 is impaired by a somatic mutation found in kidney cancer." DNA Repair 1(7):497-505.
Aure, K., Dubourg, O., Jardel, C., Clarysse, L., Sternberg, D., Fournier, E., Laforet, P., Streichenberger, N., Petiot, P., Gervais-Bernard, H., Vial, C., Bedat-Millet, A. L., Drouin-Garraud, V., Bouillaud, F., Vandier, C., Fontaine, B. and Lombes, A. (2013). "Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations". Neurology 81(21):1810-1818.
Aure, K., Fayet, G., Chicherin, I., Rucheton, B., Filaut, S., Heckel, A. M., Eichler, J., Caillon, F., Pereon, Y., Entelis, N., Tarassov, I. and Lombes, A. (2020). "Homoplasmic mitochondrial tRNA(Pro) mutation causing exercise-induced muscle swelling and fatigue." Neurology. Genetics 6(4):e480.
Aure, K., Ogier de Baulny, H., Laforet, P., Jardel, C., Eymard, B. and Lombes, A. (2007). "Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?" Brain 130(Pt 6):1516-1524.
Austin, S. A., Vriesendorp, F. J., Thandroyen, F. T., Hecht, J. T., Jones, O. T. and Johns, D. R. (1998). "Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation." Neurology 51(5):1447-1450.
Autere, J., Moilanen, J. S., Finnila, S., Soininen, H., Mannermaa, A., Hartikainen, P., Hallikainen, M. and Majamaa, K. (2004). "Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia." Human Genetics 115(1):29-35.
Avise, J. C., Giblin-Davidson, C., Laerm, J., Patton, J. C. and Lansman, R. A. (1979). "Mitochondrial DNA clones and matriarchal phylogeny within and among geographic populations of the pocket gopher, Geomys pinetis." Proceedings of the National Academy of Sciences of the United States of America 76(12):6694-6698.
Awad, M. and Gavish, M. (1987). "Binding of [3H]Ro 5-4864 and [3H]PK 11195 to cerebral cortex and peripheral tissues of various species: species differences and heterogeneity in peripheral benzodiazepine binding sites." Journal of Neurochemistry 49(5):1407-1414.
Awadalla, P., Eyre-Walker, A. and Smith, J. M. (1999). "Linkage disequilibrium and recombination in hominid mitochondrial DNA. [Comments in: Science. 2000 Jun 16; 288(5473):1931.]." Science 286(5449):2524-2525.
Awadalla, P., Eyre-Walker, A. and Smith, J. M. (2000). "Questioning evidence for recombination in human mitochondrial DNA [Response to Technical Comments re: Awadalla et al 1999]." Science 288(5473):1931.
Awata, T., Matsumoto, T., Iwamoto, Y., Matsuda, A., Kuzuya, T. and Saito, T. (1993). "Japanese case of diabetes mellitus and deafness with mutation in mitochondrial tRNALeu(UUR) gene [letter]." Lancet 341(8855):1291-1292.
Azadi, A., Seo, D. J., Jafari Sasansara, H. and Van Haute, M. (2018). "Mitochondrial DNA variations are associated with recurrent pregnancy loss." Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis 29(5):674-678.
Azevedo, O., Vilarinho, L., Almeida, F., Ferreira, F., Guardado, J., Ferreira, M., Lourenco, A., Medeiros, R. and Almeida, J. (2010). "Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA." Cardiology 115(1):71-74.
Aziz, D. C., Hanna, Z. and Jolicoeur, P. (1989). "Severe immunodeficiency disease induced by a defective murine leukaemia virus." Nature 338(6215):505-508.
Azzi, A. and Chance, B. (1969). "The "energized state" of mitochondria: lifetime and ATP equivalence." Biochimica et Biophysica Acta 189(2):141-151.
Azzi, A., Montecucco, C. and Richter, C. (1975). "The use of acetylated ferricytochrome c for the detection of superoxide radicals produced in biological membranes." Biochemical & Biophysical Research Communications 65(2):597-603.
Baasner, A., Schafer, C., Junge, A. and Madea, B. (1998). "Polymorphic sites in human mitochondrial DNA control region sequences: population data and maternal inheritance." Forensic Science International 98(3):169-178.
Babalini, C., Martinez-Labarga, C., Tolk, H. V., Kivisild, T., Giampaolo, R., Tarsi, T., Contini, I., Barac, L., Janicijevic, B., Martinovic Klaric, I., Pericic, M., Sujoldzic, A., Villems, R., Biondi, G., Rudan, P. and Rickards, O. (2005). "The population history of the Croatian linguistic minority of Molise (southern Italy): a maternal view." European Journal of Human Genetics 13(8):902-912.
Bacalhau, M., Simoes, M., Rocha, M. C., Hardy, S. A., Vincent, A. E., Duraes, J., Macario, M. C., Santos, M. J., Rebelo, O., Lopes, C., Pratas, J., Mendes, C., Zuzarte, M., Rego, A. C., Girao, H., Wong, L. C., Taylor, R. W. and Grazina, M. (2018). "Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant." Neuromuscular Disorders 28(4):350-360.
Bacalhau, M., Pratas, J., Simoes, M., Mendes, C., Ribeiro, C., Santos, M. J., Diogo, L., Macario, M. C. and Grazina, M. (2017). "In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes." European Journal of Medical Genetics 60(3):172-177.
Bacchetta, M. D. and Richter, G. (1996). "Response to "Germ-line therapy to cure mitochondrial disease: protocol and ethics of in vitro ovum nuclear transplantation" by Donald S. Rubenstein, David C. Thomasma, Eric A. Schon, and Michael J. Zinaman (CQ Vol 4, No 3)." Cambridge Quarterly of Healthcare Ethics 5(3):450-457.
Bachinski, L. L. and Roberts, R. (1996). "Familial hypertrophic cardiomyopathy: diagnostic and therapeutic implications of recent genetic studies." Molecular Medicine Today 2(9):387-393.
Bachman, N. J., Riggs, P. K., Siddiqui, N., Makris, G. J., Womack, J. E. and Lomax, M. I. (1997). "Structure of the human gene (COX6A2) for the heart/muscle isoform of cytochrome c oxidase subunit VIa and its chromosomal location in humans, mice, and cattle." Genomics 42(1):146-151.
Bacman, S. R., Williams, S. L., Pinto, M., Peralta, S. and Moraes, C. T. (2013). "Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs." Nature Medicine 19(9):1111-1113.
Bachynski, B. N., Flynn, J. T., Rodrigues, M. M., Rosenthal, S., Cullen, R. and Curless, R. G. (1986). "Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome." Ophthalmology 93(3):391-396.
Bacino, C., Prezant, T. R., Bu, X., Fournier, P. and Fischel-Ghodsian, N. (1995). "Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness." Pharmacogenetics 5(3):165-172.
Backer, J. M. and Weinstein, I. B. (1980). "Mitochondrial DNA is a major cellular target for a dihydrodiol-epoxide derivative of benzo[a]pyrene." Science 209(4453):297-299.
Bacman, S. R., Atencio, D. P. and Moraes, C. T. (2003). "Decreased mitochondrial tRNALys steady-state levels and aminoacylation are associated with the pathogenic G8313A mitochondrial DNA mutation." Biochemical Journal 374(Pt 1):131-136.
Bacman, S. R., Williams, S. L., Hernandez, D. and Moraes, C. T. (2007). "Modulating mtDNA heteroplasmy by mitochondria-targeted restriction endonucleases in a 'differential multiple cleavage-site' model." Gene Therapy 14(18):1309-1318.
Bacman, S. R., Williams, S. L., Pinto, M., Peralta, S. and Moraes, C. T. (2013). "Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs". Nature Medicine 19(9):1111-1113.
Badley, A. D., Roumier, T., Lum, J. J. and Kroemer, G. (2003). "Mitochondrion-mediated apoptosis in HIV-1 infection." Trends in Pharmacological Sciences 24(6):298-305.
Baek, K., Thiel, B. A., Lucas, S. and Stuehr, D. J. (1993). "Macrophage nitric oxide synthase subunits. Purification, characterization, and role of prosthetic groups and substrate in regulating their association into a dimeric enzyme." Journal of Biological Chemistry 268(28):21120-21129.
Baens, M., Chaffanet, M., Cassiman, J. J., van den Berghe, H. and Marynen, P. (1993). "Construction and evaluation of a hncDNA library of human 12p transcribed sequences derived from a somatic cell hybrid." Genomics 16(1):214-218.
Baertling, F., Rodenburg, R. J., Schaper, J., Smeitink, J. A., Koopman, W. J., Mayatepek, E., Morava, E. and Distelmaier, F. (2014). "A guide to diagnosis and treatment of Leigh syndrome." Journal of Neurology, Neurosurgery and Psychiatry 85(3):257-265.
Bagasra, O., Kajdacsy-Balla, A. and Lischner, H. W. (1989). "Effects of alcohol ingestion on in vitro susceptibility of peripheral blood mononuclear cells to infection with HIV and of selected T-cell functions." Alcoholism: Clinical and Experimental Research 13(5):636-643.
Bagnara, G. P., Zauli, G., Vitale, L., Rosito, P., Vecchi, V., Paolucci, G., Avanzi, G. C., Ramenghi, U., Timeus, F. and Gabutti, V. (1991). "In vitro growth and regulation of bone marrow enriched CD34+ hematopoietic progenitors in Diamond-Blackfan anemia." Blood 78(9):2203-2210.
Bahr, T., Welburn, K., Donnelly, J. and Bai, Y. (2020). "Emerging model systems and treatment approaches for Leber's hereditary optic neuropathy: Challenges and opportunities." Biochimica et Biophysica Acta. Molecular Basis of Disease 1866(6):165743.
Bai, R. K. and Wong, L. J. (2004). "Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach." Clinical Chemistry 50(6):996-1001.
Bai, R. K., Perng, C. L., Hsu, C. H. and Wong, L. J. (2004). "Quantitative PCR analysis of mitochondrial DNA content in patients with mitochondrial disease." Annals of the New York Academy of Sciences:304-309.
Bai, U. and Seidman, M. D. (2001). "A specific mitochondrial DNA deletion (mtDNA4977) is identified in a pedigree of a family with hearing loss." Hearing Research 154(1-2):73-80.
Bai, U., Seidman, M. D., Hinojosa, R. and Quirk, W. S. (1997). "Mitochondrial DNA deletions associated with aging and possibly presbycusis: a human archival temporal bone study." American Journal of Otology 18(4):449-453.
Bai, Y., Hajek, P., Chomyn, A., Chan, E., Seo, B. B., Matsuno-Yagi, A., Yagi, T. and Attardi, G. (2001). "Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDI1) gene." Journal of Biological Chemistry 276(42):38808-38813.
Bai, Y., Hu, P., Park, J. S., Deng, J. H., Song, X., Chomyn, A., Yagi, T. and Attardi, G. (2004). "Genetic and functional analysis of mitochondrial DNA-encoded complex I genes." Annals of the New York Academy of Sciences:272-283.
Bai, Y. H., Ren, C. C., Gong, X. R. and Meng, L. P. (2008). "A maternal hereditary deafness pedigree of the A1555G mitochondrial mutation, causing aminoglycoside ototoxicity predisposition." The Journal of Laryngology and Otology 122(10):1037-1041.
Bailliet, G., Rothhammer, F., Carnese, F. R., Bravi, C. M. and Bianchi, N. O. (1994). "Founder mitochondrial haplotypes in Amerindian populations." American Journal of Human Genetics 55(1):27-33.
Bakare, A. B., Daniel, J., Stabach, J., Rojas, A., Bell, A., Henry, B. and Iyer, S. (2021). "Quantifying mitochondrial dynamics in patient fibroblasts with multiple developmental defects and mitochondrial disorders." International Journal of Molecular Sciences 22(12):6263.
Bakhoum, M. F., Wu, W. P., White, E. C., Sengillo, J. D., Sanfilippo, C., Morcos, M. M., Freund, K. B., Perry, H. D., Sarraf, D. and Tsang, S. H. (2018). "Mitochondrial A3243G mutation results in corneal endothelial polymegathism." Graefe's Archive for Clinical and Experimental Ophthalmology 256(3):583-588.
Bakker, A., Barthelemy, C., Frachon, P., Chateau, D., Sternberg, D., Mazat, J. P. and Lombes, A. (2000). "Functional mitochondrial heterogeneity in heteroplasmic cells carrying the mitochondrial DNA mutation associated with the MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes)." Pediatric Research 48(2):143-150.
Bakker, H. D., Scholte, H. R., Dingemans, K. P., Spelbrink, J. N., Wijburg, F. A. and Van den Bogert, C. (1996). "Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease [see comments]." Journal of Pediatrics 128(5 Pt 1):683-687.
Bakker, H. D., Scholte, H. R., Van den Bogert, C., Jeneson, J. A., Ruitenbeek, W., Wanders, R. J., Abeling, N. G. and van Gennip, A. H. (1993). "Adenine nucleotide translocator deficiency in muscle: potential therapeutic value of vitamin E." Journal of Inherited Metabolic Disease 16(3):548-552.
Bakker, H. D., Scholte, H. R., Van den Bogert, C., Ruitenbeek, W., Jeneson, J. A., Wanders, R. J., Abeling, N. G., Dorland, B., Sengers, R. C. and Van Gennip, A. H. (1993). "Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect." Pediatric Research 33(4 Pt 1):412-417.
Baklouti-Gargouri, S., Ghorbel, M., Ben Mahmoud, A., Mkaouar-Rebai, E., Chakroun, N., Sellami, A., Fakhfakh, F. and Ammar-Keskes, L. (2014). "Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men." Biochemical and Biophysical Research Communications 450(1):610-615.
Baklouti-Gargouri, S., Ghorbel, M., Ben Mahmoud, A., Mkaouar-Rebai, E., Cherif, M., Chakroun, N., Sellami, A., Fakhfakh, F. and Ammar-Keskes, L. (2013). "Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men." Molecular Biology Reports 40(8):4705-4712.
Baklouti-Gargouri, S., Ghorbel, M., Ben Mahmoud, A., Mkaouar-Rebai, E., Cherif, M., Chakroun, N., Sellami, A., Fakhfakh, F. and Ammar-Keskes, L. (2013). "A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men." Molecular Reproduction and Development 80(7):581-587.
Balaban, R. S., Nemoto, S. and Finkel, T. (2005). "Mitochondria, oxidants, and aging." Cell 120(4):483-495.
Balasubramaniam, S., Lewis, B., Mock, D. M., Said, H. M., Tarailo-Graovac, M., Mattman, A., van Karnebeek, C. D., Thorburn, D. R., Rodenburg, R. J. and Christodoulou, J. (2017). "Leigh-Like syndrome due to homoplasmic m.8993T>G variant with hypocitrullinemia and unusual biochemical features suggestive of multiple carboxylase deficiency (MCD)." JIMD Reports 33:99-107.
Ballana, E., Govea, N., de Cid, R., Garcia, C., Arribas, C., Rosell, J. and Estivill, X. (2008). "Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations." Human Mutation 29(2):248-257.
Ballana, E., Mercader, J. M., Fischel-Ghodsian, N. and Estivill, X. (2007). "MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene." BMC Medical Genetics 8:81.
Ballana, E., Morales, E. and Estivill, X. (2006). "Reply to correspondence by Abreu-Silva et al. [BBRC 343(3):675-676] regarding Ballana et al.[BBRC 341(4):950-957]: Mutation T1291C in the mitochondrial 12S rRNA gene involved in deafness in a Cuban family belongs to the macrohaplogroup L1 of African origin." Biochemical and Biophysical Research Communications 346(3):619-620.
Ballana, E., Morales, E., Rabionet, R., Montserrat, B., Ventayol, M., Bravo, O., Gasparini, P. and Estivill, X. (2006). "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment." Biochemical and Biophysical Research Communications 341(4):950-957.
Ballinger, S. W., Schurr, T. G., Torroni, A., Gan, Y. Y., Hodge, J. A., Hassan, K., Chen, K. H. and Wallace, D. C. (1992). "Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations [published erratum appears in Genetics 1992 Apr;130(4):957]." Genetics 130(1):139-152.
Ballinger, S. W., Shoffner, J. M., Gebhart, S., Koontz, D. A. and Wallace, D. C. (1994). "Mitochondrial diabetes revisited [letter]." Nature Genetics 7(4):458-459.
Ballinger, S. W., Shoffner, J. M., Hedaya, E. V., Trounce, I., Polak, M. A., Koontz, D. A. and Wallace, D. C. (1992). "Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion." Nature Genetics 1:11-15.
Balloux, F. (2010). "The worm in the fruit of the mitochondrial DNA tree." Heredity 104(5):419-420.
Balloux, F., Handley, L. J., Jombart, T., Liu, H. and Manica, A. (2009). "Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation". Proceedings of the Royal Society of London. Series B: Biological Sciences 276(1672):3447-3455.
Baloh, R. H., Salavaggione, E., Milbrandt, J. and Pestronk, A. (2007). "Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle." Archives of Neurology 64(7):998-1000.
Balter, M. (2011). "Was North Africa the launch pad for modern human migrations?" Science 331(6013):20-23.
Bamne, M. N., Talkowski, M. E., Moraes, C. T., Manuck, S. B., Ferrell, R. E., Chowdari, K. V. and Nimgaonkar, V. L. (2008). "Systematic association studies of mitochondrial DNA variations in schizophrenia: focus on the ND5 gene." Schizophrenia Bulletin 34(3):458-465.
Ban, M., Elson, J., Walton, A., Turnbull, D., Compston, A., Chinnery, P. and Sawcer, S. (2008). "Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility." PLoS ONE 3(8):e2891.
Bandeira, A. O. (2019). "Leigh Syndrome: a case report with a mitochondrial DNA mutation." Revista Paulista de Pediatria 37(1):136.
Bandelt, H. J. (2004). "Etruscan artifacts." American Journal of Human Genetics 75(5):919-920; author reply 923-927.
Bandelt, H. J. and Forster, P. (1997). "The myth of bumpy hunter-gatherer mismatch distributions [letter; comment]." American Journal of Human Genetics 61(4):980-983.
Bandelt, H. J. and Parson, W. (2008). "Consistent treatment of length variants in the human mtDNA control region: a reappraisal." International Journal of Legal Medicine 122(1):11-21.
Bandelt, H. J. and Salas, A. (2009). "Contamination and sample mix-up can best explain some patterns of mtDNA instabilities in buccal cells and oral squamous cell carcinoma". BMC Cancer 9:113.
Bandelt, H. J. and Salas, A. (2012). "Current next generation sequencing technology may not meet forensic standards". Forensic Science International. Genetics 6(1):143-145.
Bandelt, H. J., Achilli, A., Kong, Q. P., Salas, A., Lutz-Bonengel, S., Sun, C., Zhang, Y. P., Torroni, A. and Yao, Y. G. (2005). "Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies." Biochemical and Biophysical Research Communications 333(1):122-130.
Bandelt, H. J., Alves-Silva, J., Guimaraes, P. E., Santos, M. S., Brehm, A., Pereira, L., Coppa, A., Larruga, J. M., Rengo, C., Scozzari, R., Torroni, A., Prata, M. J., Amorim, A., Prado, V. F. and Pena, S. D. (2001). "Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade." Annals of Human Genetics 65(Pt 6):549-563.
Bandelt, H. J., Forster, P., Sykes, B. C. and Richards, M. B. (1995). "Mitochondrial portraits of human populations using median networks." Genetics 141(2):743-753.
Bandelt, H. J., Kloss-Brandstatter, A., Richards, M. B., Yao, Y.-G. and Logan, I. (2013). "The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies". Journal of Human Genetics 58(12):1-12.
Bandelt, H. J., Kong, Q. P., Parson, W. and Salas, A. (2005). "More evidence for non-maternal inheritance of mitochondrial DNA?" Journal of Medical Genetics 42(12):957-960.
Bandelt, H. J., Lahermo, P., Richards, M. and Macaulay, V. (2001). "Detecting errors in mtDNA data by phylogenetic analysis." International Journal of Legal Medicine 115(2):64-69.
Bandelt, H. J., Olivieri, A., Bravi, C., Yao, Y. G., Torroni, A. and Salas, A. (2007). "'Distorted' mitochondrial DNA sequences in schizophrenic patients." European Journal of Human Genetics 15(4):400-402; author reply 402-404.
Bandelt, H. J., Quintana-Murci, L., Salas, A. and Macaulay, V. (2002). "The fingerprint of phantom mutations in mitochondrial DNA data." American Journal of Human Genetics 71(5):1150-1160.
Bandelt, H. J., Quintana-Murci, L., Salas, A. and Macaulay, V. (2002). "The fingerprint of phantom mutations in mitochondrial DNA data." American Journal of Human Genetics 71(5):1150-1160.
Bandelt, H. J., Salas, A. and Bravi, C. (2004). "Problems in FBI mtDNA database." Science 305(5689):1402-1404.
Bandelt, H. J., Salas, A. and Lutz-Bonengel, S. (2004). "Artificial recombination in forensic mtDNA population databases." International Journal of Legal Medicine 118(5):267-273.
Bandelt, H. J., Salas, A., Taylor, R. W. and Yao, Y. G. (2009). "Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches." Human Mutation 30(2):191-196.
Bandelt, H. J., Yao, Y. G., Bravi, C. M., Salas, A. and Kivisild, T. (2009). "Median network analysis of defectively sequenced entire mitochondrial genomes from early and contemporary disease studies". Journal of Human Genetics 54(3):174-181.
Bandelt, H. J., Yao, Y. G. and Salas, A. (2008). "The search of 'novel' mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor". International Journal of Cardiology 126(3):439-442.
Bandelt, H. J., Yao, Y. G., Salas, A., Kivisild, T. and Bravi, C. M. (2007). "High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients." Biochemical and Biophysical Research Communications 352(2):283-291.
Bandiera, S., Ruberg, S., Girard, M., Cagnard, N., Hanein, S., Chretien, D., Munnich, A., Lyonnet, S. and Henrion-Caude, A. (2011). "Nuclear outsourcing of RNA interference components to human mitochondria." PLoS ONE 6(6):e20746.
Bandmann, O., Sweeney, M. G., Daniel, S. E., Marsden, C. D. and Wood, N. W. (1997). "Mitochondrial DNA polymorphisms in pathologically proven Parkinson's disease." Journal of Neurology 244(4):262-265.
Bandy, B. and Davison, A. J. (1990). "Mitochondrial mutations may increase oxidative stress: implications for carcinogenesis and aging?" Free Radical Biology and Medicine 8(6):523-539.
Bank, W. and Chance, B. (1997). "Diagnosis of defects in oxidative muscle metabolism by non-invasive tissue oximetry." Molecular & Cellular Biochemistry 174(1-2):7-10.
Bannwarth, S., Procaccio, V. and Paquis-Flucklinger, V. (2005). "Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects." Human Mutation 25(6):575-582.
Bannwarth, S., Procaccio, V. and Paquis-Flucklinger, V. (2006). "Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease." Nat Protoc 1(4):2037-2047.
Bannwarth, S., Procaccio, V. and Paquis-Flucklinger, V. (2009). "Rapid identification of unknown heteroplasmic mitochondrial DNA mutations with mismatch-specific surveyor nuclease." Methods in Molecular Biology 554:301-313.
Bannwarth, S., Procaccio, V., Rouzier, C., Fragaki, K., Poole, J., et al. (2008). "Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy". Mitochondrion 8(2):136-145.
Bar, W., Brinkmann, B., Budowle, B., Carracedo, A., Gill, P., Holland, M., Lincoln, P. J., Mayr, W., Morling, N., Olaisen, B., Schneider, P. M., Tully, G. and Wilson, M. (2000). "Guidelines for mitochondrial DNA typing. DNA Commission of the International Society for Forensic Genetics." Vox Sanguinis 79(2):121-125.
Bar-Yaacov, D., Avital, G., Levin, L., Richards, A. L., Hachen, N., Rebolledo Jaramillo, B., Nekrutenko, A., Zarivach, R. and Mishmar, D. (2013). "RNA-DNA differences in human mitochondria restore ancestral form of 16S ribosomal RNA". Genome Research 23(11):1789-1796.
Baracca, A., Barogi, S., Carelli, V., Lenaz, G. and Solaini, G. (2000). "Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a." Journal of Biological Chemistry 275(6):4177-4182.
Baracca, A., Sgarbi, G., Mattiazzi, M., Casalena, G., Pagnotta, E., Valentino, M. L., Moggio, M., Lenaz, G., Carelli, V. and Solaini, G. (2007). "Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993." Biochimica et Biophysica Acta 1767(7):913-919.
Baracca, A., Solaini, G., Sgarbi, G., Lenaz, G., Baruzzi, A., Schapira, A. H., Martinuzzi, A. and Carelli, V. (2005). "Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids." Archives of Neurology 62(5):730-736.
Barbaro, G., Di Lorenzo, G., Asti, A., Ribersani, M., Belloni, G., Grisorio, B., Filice, G. and Barbarini, G. (1999). "Hepatocellular mitochondrial alterations in patients with chronic hepatitis C: ultrastructural and biochemical findings [see comments]." American Journal of Gastroenterology 94(8):2198-2205.
Barbaro, G., Di Lorenzo, G., Grisorio, B. and Barbarini, G. (1998). "Cardiac involvement in the acquired immunodeficiency syndrome: a multicenter clinical-pathological study. Gruppo Italiano per lo Studio Cardiologico dei pazienti affetti da AIDS Investigators." AIDS Research and Human Retroviruses 14(12):1071-1077.
Barbaro, G., Di Lorenzo, G., Grisorio, B. and Barbarini, G. (1998). "Incidence of dilated cardiomyopathy and detection of HIV in myocardial cells of HIV-positive patients. Gruppo Italiano per lo Studio Cardiologico dei Pazienti Affetti da AIDS [see comments]." New England Journal of Medicine 339(16):1093-1099.
Barbieri, C., Guldemann, T., Naumann, C., Gerlach, L., Berthold, F., Nakagawa, H., Mpoloka, S. W., Stoneking, M. and Pakendorf, B. (2014). "Unraveling the complex maternal history of Southern African Khoisan populations". American Journal of Physical Anthropology 153(3):435-448.
Barbieri, C., Sandoval, J. R., Valqui, J., Shimelman, A., Ziemendorff, S., Schroder, R., Geppert, M., Roewer, L., Gray, R., Stoneking, M., Fujita, R. and Heggarty, P. (2017). "Enclaves of genetic diversity resisted Inca impacts on population history." Scientific Reports 7(1):17411.
Barbieri, C., Vicente, M., Rocha, J., Mpoloka, S. W., Stoneking, M. and Pakendorf, B. (2013). "Ancient substructure in early mtDNA lineages of southern Africa". American Journal of Human Genetics 92(2):285-292.
Barbieri, C., Whitten, M., Beyer, K., Schreiber, H., Li, M. and Pakendorf, B. (2012). "Contrasting maternal and paternal histories in the linguistic context of Burkina Faso". Molecular Biology and Evolution 29(4):1213-1223.
Barbiroli, B., Montagna, P., Cortelli, P., Iotti, S., Lodi, R., Barboni, P., Monari, L., Lugaresi, E., Frassineti, C. and Zaniol, P. (1995). "Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation." Neurology 45(7):1364-1369.
Barboni, P., Savini, G., Valentino, M. L., La Morgia, C., Bellusci, C., De Negri, A. M., Sadun, F., Carta, A., Carbonelli, M., Sadun, A. A. and Carelli, V. (2006). "Leber's hereditary optic neuropathy with childhood onset." Investigative Ophthalmology and Visual Science 47(12):5303-5309.
Barbosa, A. B., da Silva, L. A., Azevedo, D. A., Balbino, V. Q. and Mauricio-da-Silva, L. (2008). "Mitochondrial DNA control region polymorphism in the population of Alagoas state, north-eastern Brazil." Journal of Forensic Sciences 53(1):142-146.
Barbujani, G. and Goldstein, D. B. (2004). "Africans and Asians abroad: genetic diversity in Europe." Annual Review of Genomics and Human Genetics 5:119-150.
Barbujani, G., Stenico, M., Excoffier, L. and Nigro, L. (1996). "Mitochondrial DNA sequence variation across linguistic and geographic boundaries in Italy." Human Biology 68(2):201-215.
Barbujani, G., Vernesi, C., Caramelli, D., Castri, L., Lalueza-Fox, C. and Bertorelle, G. (2004). "Etruscan artifacts: much ado about nothing." American Journal of Human Genetics 75(5):923-927.
Bardakjian, T. and Scherer, S. S. (2019). "A MT-ATP6 mutation causes a slowly progressive myeloneuropathy." Journal of Neuromuscular Diseases 6(3):385-387.
Bardien, S., Human, H., Harris, T., Hefke, G., Veikondis, R., Schaaf, H. S., van der Merwe, L., Greinwald, J. H., Fagan, J. and de Jong, G. (2009). "A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness." BMC Medical Genetics 10:2.
Bardosi, A., Creutzfeldt, W., DiMauro, S., Felgenhauer, K., Friede, R. L., Goebel, H. H., Kohlschutter, A., Mayer, G., Rahlf, G., Servidei, S. and et al. (1987). "Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder." Acta Neuropathologica (Berlin) 74(3):248-258.
Bargagli, M., Primiano, G., Primiano, A., Gervasoni, J., Naticchia, A., Servidei, S., Gambaro, G. and Ferraro, P. M. (2019). "Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation." Urolithiasis 47(5):489-492.
Barger, S. W., Smith-Swintosky, V. L., Rydel, R. E. and Mattson, M. P. (1993). "Beta-Amyloid precursor protein mismetabolism and loss of calcium homeostasis in Alzheimer's disease." Annals of the New York Academy of Sciences 695:158-164.
Baric, I., Fumic, K., Petkovic Ramadza, D., Sperl, W., Zimmermann, F. A., Muacevic-Katanec, D., Mitrovic, Z., Pazanin, L., Cvitanovic Sojat, L., Kekez, T., Reiner, Z. and Mayr, J. A. (2013). "Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene." European Journal of Human Genetics 21(8):871-875.
Barik, S. S., Sahani, R., Prasad, B. V., Endicott, P., Metspalu, M., Sarkar, B. N., Bhattacharya, S., Annapoorna, P. C., Sreenath, J., Sun, D., Sanchez, J. J., Ho, S. Y., Chandrasekar, A. and Rao, V. R. (2008). "Detailed mtDNA genotypes permit a reassessment of the settlement and population structure of the Andaman Islands." American Journal of Physical Anthropology 136(1):19-27.
Barinaga, M. (1996). "An intriguing new lead on Huntington's disease." Science 271(5253):1233-1234.
Barkworth, M. F., Dyde, C. J., Johnson, K. I. and Schnelle, K. (1985). "An early phase I study to determine the tolerance, safety and pharmacokinetics of idebenone following multiple oral doses." Arzneimittelforschung 35(11):1704-1707.
Barnils, N., Mesa, E., Munoz, S., Ferrer-Artola, A. and Arruga, J. (2007). "[Response to idebenone and multivitamin therapy in Leber's hereditary optic neuropathy]." Archivos de la Sociedad Española de Oftalmología 82(6):377-380.
Barrell, B. G., Anderson, S., Bankier, A. T., de Bruijn, M. H., Chen, E., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J., Staden, R. and Young, I. G. (1980). "Different pattern of codon recognition by mammalian mitochondrial tRNAs." Proceedings of the National Academy of Sciences of the United States of America 77(6):3164-3166.
Barrell, B. G., Bankier, A. T. and Drouin, J. (1979). "A different genetic code in human mitochondria." Nature 282:189-194.
Barreto, G., Vago, A. R., Ginther, C., Simpson, A. J. and Pena, S. D. (1996). "Mitochondrial D-loop "signatures" produced by low-stringency single specific primer PCR constitute a simple comparative human identity test." American Journal of Human Genetics 58(3):609-616.
Barrientos, A. (2003). "Yeast models of human mitochondrial diseases." IUBMB Life 55(2):83-95.
Barrientos, A. and Moraes, C. T. (1998). "Simultaneous transfer of mitochondrial DNA and single chromosomes in somatic cells: a novel approach for the study of defects in nuclear- mitochondrial communication." Human Molecular Genetics 7(11):1801-1808.
Barrientos, A. and Moraes, C. T. (1999). "Titrating the effects of mitochondrial complex I impairment in the cell physiology." Journal of Biological Chemistry 274(23):16188-16197.
Barrientos, A., Casademont, J., Genis, D., Cardellach, F., Fernandez-Real, J. M., Grau, J. M., Urbano-Marquez, A., Estivill, X. and Nunes, V. (1997). "Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency." Human Mutation 10(3):212-216.
Barrientos, A., Casademont, J., Saiz, A., Cardellach, F., Volpini, V., Solans, A., Tolosa, E., Urbano-Marquez, A., Estivill, X. and Nunes, V. (1996). "Autosomal recessive Wolfram Syndrome associated with an 8.5-kb mtDNA single deletion." American Journal of Human Genetics 58(5):963-970.
Barrientos, A., Casademont, J., Solans, A., Moral, P., Cardellach, F., Urbano-Marquez, A., Estivill, X. and Nunes, V. (1995). "The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence." Human Genetics 96(2):225-228.
Barrientos, A., Muller, S., Dey, R., Wienberg, J. and Moraes, C. T. (2000). "Cytochrome c oxidase assembly in primates is sensitive to small evolutionary variations in amino acid sequence." Molecular Biology and Evolution 17(10):1508-1519.
Barritt, J. A., Kokot, M., Cohen, J., Steuerwald, N. and Brenner, C. A. (2002). "Quantification of human ooplasmic mitochondria." Reproductive Biomedicine Online 4(3):243-247.
Barritt, J., Willadsen, S., Brenner, C. and Cohen, J. (2001). "Cytoplasmic transfer in assisted reproduction." Human Reproduction Update 7(4):428-435.
Barritt, J. A., Brenner, C. A., Malter, H. E. and Cohen, J. (2001). "Mitochondria in human offspring derived from ooplasmic transplantation." Human Reproduction 16(3):513-516.
Barritt, J. A., Brenner, C. A., Willadsen, S. and Cohen, J. (2000). "Spontaneous and artificial changes in human ooplasmic mitochondria." Human Reproduction 15 Suppl 2:207-217.
Barritt, J. A., Cohen, J. and Brenner, C. A. (2000). "Mitochondrial DNA point mutation in human oocytes is associated with maternal age." Reproductive Biomedicine Online 1(3):96-100.
Barron, M. J., Chinnery, P. F., Howel, D., Blakely, E. L., Schaefer, A. M., Taylor, R. W. and Turnbull, D. M. (2005). "Cytochrome c oxidase deficient muscle fibres: substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy." Neuromuscular Disorders 15(11):768-774.
Barros, F., Lareu, M. V., Salas, A. and Carracedo, A. (1997). "Rapid and enhanced detection of mitochondrial DNA variation using single-strand conformation analysis of superposed restriction enzyme fragments from polymerase chain reaction-amplified products." Electrophoresis 18(1):52-54.
Barroso Lima, N. C. and Prosdocimi, F. (2018). "The heavy strand dilemma of vertebrate mitochondria on genome sequencing age: number of encoded genes or G + T content?" Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis 29(2):300-302.
Barshop, B. A., Naviaux, R. K., McGowan, K. A., Levine, F., Nyhan, W. L., Loupis-Geller, A. and Haas, R. H. (2004). "Chronic treatment of mitochondrial disease patients with dichloroacetate." Molecular Genetics and Metabolism 83(1-2):138-149.
Barthelemy, C., de Baulny, H. O. and Lombes, A. (2002). "D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion?" Human Genetics 110(5):479-487.
Baserga, S. J., Linnenbach, A. J., Malcolm, S., Ghosh, P., Malcolm, A. D., Takeshita, K., Forget, B. G. and Benz, E. J., Jr. (1985). "Polyadenylation of a human mitochondrial ribosomal RNA transcript detected by molecular cloning." Gene 35(3):305-312.
Basile, A. S., Bolger, G. T., Lueddens, H. W. and Skolnick, P. (1989). "Electrophysiological actions of Ro5-4864 on cerebellar Purkinje neurons: evidence for "peripheral" benzodiazepine receptor-mediated depression." Journal of Pharmacology and Experimental Therapeutics 248(1):463-469.
Basu, A. and Avadhani, N. G. (1991). "Structural organization of nuclear gene for subunit Vb of mouse mitochondrial cytochrome c oxidase." Journal of Biological Chemistry 266(23):15450-15456.
Bataillard, M., Chatzoglou, E., Rumbach, L., Sternberg, D., Tournade, A., Laforet, P., Jardel, C., Maisonobe, T. and Lombes, A. (2001). "Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation." Neurology 56(3):405-407.
Batandier, C., Picard, A., Tessier, N. and Lunardi, J. (2000). "Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms." Human Mutation 16(6):532.
Bates, M. G., Bourke, J. P., Giordano, C., d'Amati, G., Turnbull, D. M. and Taylor, R. W. (2012). "Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management." European Heart Journal 33(24):3023-3033.
Batista dos Santos, S. E., Rodrigues, J. D., Ribeiro-dos-Santos, A. K. and Zago, M. A. (1999). "Differential contribution of indigenous men and women to the formation of an urban population in the Amazon region as revealed by mtDNA and Y-DNA." American Journal of Physical Anthropology 109(2):175-180.
Batini, C., Lopes, J., Behar, D. M., Calafell, F., Jorde, L. B., van der Veen, L., Quintana-Murci, L., Spedini, G., Destro-Bisol, G. and Comas, D. (2011). "Insights into the demographic history of African Pygmies from complete mitochondrial genomes". Molecular Biology and Evolution 28(2):1099-1110.
Batista, O., Kolman, C. J. and Bermingham, E. (1995). "Mitochondrial DNA diversity in the Kuna Amerinds of Panama." Human Molecular Genetics 4(5):921-929.
Battersby, B. J., Loredo-Osti, J. C. and Shoubridge, E. A. (2003). "Nuclear genetic control of mitochondrial DNA segregation." Nature Genetics 33(2):183-186.
Battini, R., Ferrari, S., Kaczmarek, L., Calabretta, B., Chen, S. T. and Baserga, R. (1987). "Molecular cloning of a cDNA for a human ADP/ATP carrier which is growth-regulated." Journal of Biological Chemistry 262(9):4355-4359.
Battisti, C., Formichi, P., Cardaioli, E., Bianchi, S., Mangiavacchi, P., Tripodi, S. A., Tosi, P. and Federico, A. (2004). "Cell response to oxidative stress induced apoptosis in patients with Leber's hereditary optic neuropathy." Journal of Neurology, Neurosurgery, and Psychiatry 75(12):1731-1736.
Baty, K., Farrugia, M. E., Hopton, S., Falkous, G., Schaefer, A. M., Stewart, W., Willison, H. J., Reilly, M. M., Blakely, E. L., Taylor, R. W. and Ng, Y. S. (2021). "A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity." Neuromuscular Disorders 31(11):1186-1193.
Baudouin, S. V., Saunders, D., Tiangyou, W., Elson, J. L., Poynter, J., Pyle, A., Keers, S., Turnbull, D. M., Howell, N. and Chinnery, P. F. (2005). "Mitochondrial DNA and survival after sepsis: a prospective study." Lancet 366(9503):2118-2121.
Baumer, A., Zhang, C., Linnane, A. W. and Nagley, P. (1994). "Age-related human mtDNA deletions: a heterogeneous set of deletions arising at a single pair of directly repeated sequences." American Journal of Human Genetics 54(4):618-630.
Bayona-Bafaluy, M. P., Blits, B., Battersby, B. J., Shoubridge, E. A. and Moraes, C. T. (2005). "Rapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease." Proceedings of the National Academy of Sciences of the United States of America 102(40):14392-14397.
Bayrakci, U. S., Baskin, E., Ozcay, F., Ozdemir, B. H., Karakayali, H. and Haberal, M. (2008). "Renal Fanconi syndrome and myopathy after liver transplantation: drug-related mitochondrial cytopathy?" Pediatric Transplantation 12(1):109-112.
Baysal, E., Bayazit, Y. A., Ceylaner, S., Alatas, N., Donmez, B., Ceylaner, G., San, I., Korkmaz, B., Yilmaz, A., Menevse, A., Altunyay, S., Gunduz, B., Goksu, N., Arslan, A. and Ekmekci, A. (2008). "GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals." Journal of Genetics 87(1):53-57.
Beal, M. F. (1994). "Neurochemistry and toxin models in Huntington's disease." Current Opinion in Neurology 7(6):542-547.
Beal, M. F. (1995). "Aging, energy, and oxidative stress in neurodegenerative diseases." Annals of Neurology 38(3):357-366.
Beard, S. E., Spector, E. B., Seltzer, W. K., Frerman, F. E. and Goodman, S. I. (1993). "Mutations in electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) in glutaric acidemia type II (GA2)." Clinical Research 41:271a.
Becher, M. W., Wills, M. L., Noll, W. W., Hurko, O. and Price, D. L. (1999). "Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion." Human Pathology 30(5):577-581.
Beck, M. A., Esworthy, R. S., Ho, Y. S. and Chu, F. F. (1998). "Glutathione peroxidase protects mice from viral-induced myocarditis." FASEB Journal 12(12):1143-1149.
Beck, Y., Oren, R., Amit, B., Levanon, A., Gorecki, M. and Hartman, J. R. (1987). "Human Mn superoxide dismutase cDNA sequence." Nucleic Acids Research 15(21):9076.
Becker-Wegerich, P., Steuber, M., Olbrisch, R., Ruzicka, T., Auburger, G. and Hofhaus, G. (1998). "Defects of mitochondrial respiratory chain in multiple symmetric lipomatosis." Archives of Dermatological Research 290(12):652-655.
Beckman, J. S., Beckman, T. W., Chen, J., Marshall, P. A. and Freeman, B. A. (1990). "Apparent hydroxyl radical production by peroxynitrite: implications for endothelial injury from nitric oxide and superoxide." Proceedings of the National Academy of Sciences of the United States of America 87(4):1620-1624.
Beckman, K. B. and Ames, B. N. (1998). "Mitochondrial aging: open questions." Annals of the New York Academy of Sciences 854:118-127.
Bedford, F. L. (2012). "Sephardic signature in haplogroup T mitochondrial DNA". European Journal of Human Genetics 20(4):441-448.
Bedford, F. L., Yacobi, D., Felix, G. and Garza, F. M. (2013). "Clarifying Mitochondrial DNA Subclades of T2e from Mideast to Mexico." Phylogenetics & Evolutionary Biology 1:121.
Behan, A., Doyle, S. and Farrell, M. (2005). "Adaptive responses to mitochondrial dysfunction in the rho0 Namalwa cell." Mitochondrion 5(3):173-193.
Behar, D. M., Blue-Smith, J., Soria-Hernanz, D. F., Tzur, S., Hadid, Y., Bormans, C., Moen, A., Tyler-Smith, C., Quintana-Murci, L. and Wells, R. S. (2008). "A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals." Human Mutation (Online) 29(12):1387-1391.
Behar, D. M., Hammer, M. F., Garrigan, D., Villems, R., Bonne-Tamir, B., Richards, M., Gurwitz, D., Rosengarten, D., Kaplan, M., Della Pergola, S., Quintana-Murci, L. and Skorecki, K. (2004). "MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population." European Journal of Human Genetics 12(5):355-364.
Behar, D. M., Metspalu, E., Kivisild, T., Achilli, A., Hadid, Y., et al. (2006). "The matrilineal ancestry of ashkenazi jewry: portrait of a recent founder event." American Journal of Human Genetics 78(3):487-497.
Behar, D. M., Metspalu, E., Kivisild, T., Rosset, S., Tzur, S., Hadid, Y., Yudkovsky, G., Rosengarten, D., Pereira, L., Amorim, A., Kutuev, I., Gurwitz, D., Bonne-Tamir, B., Villems, R. and Skorecki, K. (2008). "Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora". PLoS ONE 3(4):e2062.
Behar, D. M., Rosset, S., Blue-Smith, J., Balanovsky, O., Tzur, S., Comas, D., Mitchell, R. J., Quintana-Murci, L., Tyler-Smith, C. and Wells, R. S. (2007). "The Genographic Project public participation mitochondrial DNA database." PLoS Genetics 3(6):e104.
Behar, D. M., van Oven, M., Rosset, S., Metspalu, M., Loogväli, E.-L., Silva, N. M., Kivisild, T., Torroni, A. and Villems, R. (2012). "A "Copernican" reassessment of the human mitochondrial DNA tree from its root". American Journal of Human Genetics 90(4):675-684.
Behar, D. M., Villems, R., Soodyall, H., Blue-Smith, J., Pereira, L., Metspalu, E., Scozzari, R., Makkan, H., Tzur, S., Comas, D., Bertranpetit, J., Quintana-Murci, L., Tyler-Smith, C., Wells, R. S. and Rosset, S. (2008). "The dawn of human matrilineal diversity". American Journal of Human Genetics 82(5):1130-1140.
Behbehani, R., Melhem, M., Alghanim, G., Behbehani, K. and Alsmadi, O. (2014). "ND4L gene concurrent 10609T>C and 10663T>C mutations are associated with Leber's hereditary optic neuropathy in a large pedigree from Kuwait." British Journal of Ophthalmology 98(6):826-831.
Behringer, R. (1998). "Supersonic congenics? [letter; comment]." Nat Genet 18(2):108.
Beleza, S., Gusmao, L., Amorim, A., Carracedo, A. and Salas, A. (2005). "The genetic legacy of western Bantu migrations." Human Genetics 117(4):366-375.
Bellizzi, D., Cavalcante, P., Taverna, D., Rose, G., Passarino, G., Salvioli, S., Franceschi, C. and De Benedictis, G. (2006). "Gene expression of cytokines and cytokine receptors is modulated by the common variability of the mitochondrial DNA in cybrid cell lines". Genes to Cells 11(8):883-891.
Bellmann, C., Neveu, M. M., Scholl, H. P., Hogg, C. R., Rath, P. P., Jenkins, S., Bird, A. C. and Holder, G. E. (2004). "Localized retinal electrophysiological and fundus autofluorescence imaging abnormalities in maternal inherited diabetes and deafness." Investigative Ophthalmology and Visual Science 45(7):2355-2360.
Belmont, J. W., MacGregor, G. R., Wager-Smith, K., Fletcher, F. A., Moore, K. A., Hawkins, D., Villalon, D., Chang, S. M. and Caskey, C. T. (1988). "Expression of human adenosine deaminase in murine hematopoietic cells." Molecular and Cellular Biology 8(12):5116-5125.
Belogrudov, G. and Hatefi, Y. (1994). "Catalytic sector of complex I (NADH:ubiquinone oxidoreductase): subunit stoichiometry and substrate-induced conformation changes." Biochemistry 33(15):4571-4576.
Belogrudov, G. I., Tomich, J. M. and Hatefi, Y. (1995). "ATP synthase complex. Proximities of subunits in bovine submitochondrial particles." Journal of Biological Chemistry 270(5):2053-2060.
Bendahan, D., Desnuelle, C., Vanuxem, D., Confort-Gouny, S., Figarella-Branger, D., Pellissier, J. F., Kozak-Ribbens, G., Pouget, J., Serratrice, G. and Cozzone, P. J. (1992). "31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies [see comments]." Neurology 42(6):1203-1208.
Bendall, K. E. and Sykes, B. C. (1995). "Length heteroplasmy in the first hypervariable segment of the human mtDNA control region." American Journal of Human Genetics 57(2):248-256.
Bendall, K. E., Macaulay, V. A. and Sykes, B. C. (1997). "Variable levels of a heteroplasmic point mutation in individual hair roots." American Journal of Human Genetics 61(6):1303-1308.
Bendall, K.E., Macaulay, V.A., Baker, J.R. and Sykes, B.C. (1996). "Heteroplasmic point mutations in the human mtDNA control region." American Journal of Human Genetics 59(6):1276-1287.
Bene, J., Nadasi, E., Kosztolanyi, G., Mehes, K. and Melegh, B. (2003). "Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion." European Journal of Human Genetics 11(5):375-379.
Benecke, R., Strumper, P. and Weiss, H. (1992). "Electron transfer complex I defect in idiopathic dystonia." Annals of Neurology 32(5):683-686.
Benecke, R., Strumper, P. and Weiss, H. (1993). "Electron transfer complexes I and IV of platelets are abnormal in Parkinson's disease but normal in Parkinson-plus syndromes." Brain 116(Pt 6):1451-1463.
Benn, M., Schwartz, M., Nordestgaard, B. G. and Tybjaerg-Hansen, A. (2008). "Mitochondrial haplogroups: ischemic cardiovascular disease, other diseases, mortality, and longevity in the general population." Circulation 117(19):2492-2501.
Bennett, C. H., Li, M. and Ma, B. (2003). "Chain letters & evolutionary histories." Scientific American 288(6):76-81.
Bennett, M. C., Diamond, D. M., Stryker, S. L., Parks, J. K. and Parker, W. D., Jr., (1992). "Cytochrome oxidase inhibition: a novel animal model of Alzheimer's disease." Journal of Geriatric Psychiatry and Neurology 5(2):93-101.
Bensasson, D., Feldman, M. W. and Petrov, D. A. (2003). "Rates of DNA duplication and mitochondrial DNA insertion in the human genome." Journal of Molecular Evolution 57(3):343-354.
Bensch, K. G., Degraaf, W., Hansen, P. A., Zassenhaus, H. P. and Corbett, J. A. (2007). "A transgenic model to study the pathogenesis of somatic mtDNA mutation accumulation in beta-cells." Diabetes, Obesity and Metabolism 9 Suppl 2:74-80.
Bensimon, G., Lacomblez, L., Meininger, V. and The ALS/Riluzole Study Group (1994). "A controlled trial of riluzole in amyotrophic lateralsclerosis." New England Journal of Medicine 330(9):585-591.
Benson, D. A., Karsch-Mizrachi, I., Lipman, D. J., Ostell, J. and Wheeler, D. L. (2005). "GenBank." Nucleic Acids Research 33(Database issue):D34-D38.
Bentlage, H. A., Janssen, A. J., Chomyn, A., Attardi, G., Walker, J. E., Schagger, H., Sengers, R. C. and Trijbels, F. J. (1995). "Multiple deficiencies of mitochondrial DNA- and nuclear-encoded subunits of respiratory NADH dehydrogenase detected with peptide- and subunit-specific antibodies in mitochondrial myopathies." Biochimica et Biophysica Acta 1234(1):63-73.
Bentlage, H., de Coo, R., ter Laak, H., Sengers, R., Trijbels, F., Ruitenbeek, W., Schlote, W., Pfeiffer, K., Gencic, S., von Jagow, G. and Schagger, H. (1995). "Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies." European Journal of Biochemistry 227(3):909-915.
Benzi, G. and Moretti, A. (1995). "Are reactive oxygen species involved in Alzheimer's disease?" Neurobiology of Aging 16(4):661-674.
Berardo, A., Coku, J., Kurt, B., DiMauro, S. and Hirano, M. (2010). "A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO)." Neuromuscular Disorders 20(3):204-206.
Berardo, A., Emmanuele, V., Vargas, W., Tanji, K., Naini, A. and Hirano, M. (2020). "Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6." Journal of Neurology 267(3):823-829.
Beregi, E. and Regius, O. (1983). "Relationship of mitochondrial damage in human lymphocytes and age." Aktuelle Gerontologie 13(6):226-228.
Berenson, R. J., Andrews, R. G., Bensinger, W. I., Kalamasz, D., Knitter, G., Buckner, C. D. and Bernstein, I. D. (1988). "Antigen CD34+ marrow cells engraft lethally irradiated baboons." Journal of Clinical Investigation 81(3):951-955.
Beretta, S., Mattavelli, L., Sala, G., Tremolizzo, L., Schapira, A. H., Martinuzzi, A., Carelli, V. and Ferrarese, C. (2004). "Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines." Brain 127(Pt 10):2183-2192.
Berg, O. G. and Kurland, C. G. (2000). "Why mitochondrial genes are most often found in nuclei." Molecular Biology and Evolution 17(6):951-961.
Bergs, P. M. J., Maas, D. M., Janssen, M. C. H. and Groothuis, J. T. (2022). "Feasible and clinical relevant outcome measures for adults with mitochondrial disease." Molecular and Cellular Biochemistry 135(1):102-108.
Bergamin, C. S., Rolim, L. C., Dib, S. A. and Moises, R. S. (2008). "Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10." Arquivos Brasileiros de Endocrinologia and Metabologia 52(8):1345-1349.
Berkovic, S. F., Carpenter, S., Evans, A., Karpati, G., Shoubridge, E. A., Andermann, F., Meyer, E., Tyler, J. L., Diksic, M., Arnold, D., Wolfe, L. S., Andermann, E. and Hakim, A. M. (1989). "Myoclonus epilepsy and ragged-red fibres (MERRF). I. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study." Brain 112:1231-1260.
Berkovic, S. F., Shoubridge, E. A., Andermann, F., Andermann, E., Carpenter, S. and Karpati, G. (1991). "Clinical spectrum of mitochondrial DNA mutation at base pair 8344 [letter; comment]." Lancet 338(8764):457.
Berkowitz, K., Monteagudo, A., Marks, F., Jackson, U. and Baxi, L. (1990). "Mitochondrial myopathy and preeclampsia associated with pregnancy." American Journal of Obstetrics and Gynecology 162(1):146-147.
Bernardino Gomes, T. M., Ng, Y. S., Pickett, S. J., Turnbull, D. M. and Vincent, A. E. (2021). "Mitochondrial DNA disorders: from pathogenic variants to preventing transmission." Human Molecular Genetics 30(R2):R245–R253.
Berneburg, M., Gattermann, N., Stege, H., Grewe, M., Vogelsang, K., Ruzicka, T. and Krutmann, J. (1997). "Chronically ultraviolet-exposed human skin shows a higher mutation frequency of mitochondrial DNA as compared to unexposed skin and the hematopoietic system." Photochemistry & Photobiology 66(2):271-275.
Berneburg, M., Kamenisch, Y. and Krutmann, J. (2006). "Repair of mitochondrial DNA in aging and carcinogenesis." Photochemical and Photobiological Sciences 5(2):190-198.
Berneburg, M., Plettenberg, H., Medve-Konig, K., Pfahlberg, A., Gers-Barlag, H., Gefeller, O. and Krutmann, J. (2004). "Induction of the photoaging-associated mitochondrial common deletion in vivo in normal human skin." Journal of Investigative Dermatology 122(5):1277-1283.
Bernes, S. M., Bacino, C., Prezant, T. R., Pearson, M. A., Wood, T. S., Fournier, P. and Fischel-Ghodsian, N. (1993). "Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome." Journal of Pediatrics 123(4):598-602.
Berniell-Lee, G., Plaza, S., Bosch, E., Calafell, F., Jourdan, E., Cesari, M., Lefranc, G. and Comas, D. (2008). "Admixture and sexual bias in the population settlement of La Reunion Island (Indian Ocean)." American Journal of Physical Anthropology 136(1):100-107.
Bernier, F. P., Boneh, A., Dennett, X., Chow, C. W., Cleary, M. A. and Thorburn, D. R. (2002). "Diagnostic criteria for respiratory chain disorders in adults and children." Neurology 59(9):1406-1411.
Berrettini, S., Forli, F., Passetti, S., Rocchi, A., Pollina, L., Cecchetti, D., Mancuso, M. and Siciliano, G. (2008). "Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature." Bioscience Reports 28(1):49-59.
Berrettini, S., Forli, F., Siciliano, G. and Mancuso, M. (2001). "Sudden bilateral hearing loss and sporadic mitochondrial DNA deletion." Journal of Laryngology and Otology 115(2):128-131.
Berry-Kravis, E., Mao, R., Ciurlionis, R. and Adams, A. (1994). "New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry." American Journal of Medical Genetics 53(1):94-96.
Bert, F., Corella, A., Gene, M., Perez-Perez, A. and Turbon, D. (2004). "Mitochondrial DNA diversity in the Llanos de Moxos: Moxo, Movima and Yuracare Amerindian populations from Bolivia lowlands." Annals of Human Biology 31(1):9-28.
Bertranpetit, J., Sala, J., Calafell, F., Underhill, P. A., Moral, P. and Comas, D. (1995). "Human mitochondrial DNA variation and the origin of Basques." Annals of Human Genetics 59(Pt 1):63-81.
Besch, D., Leo-Kottler, B., Zrenner, E. and Wissinger, B. (1999). "Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene." Graefes Archive for Clincial and Experimental Ophthalmology 237(9):745-752.
Besch, D., Wissinger, B., Zrenner, E. and Leo-Kotter, B. (2000). "[A case of Leber optic neuropathy with a new point mutation in the cytochrome b gene]." Ophthalmologe 97(1):22-26.
Bestwick, M. L. and Shadel, G. S. (2013). "Accessorizing the human mitochondrial transcription machinery." Trends in Biochemical Sciences 38(6):283-291.
Bet, L., Bresolin, N., Moggio, M., Meola, G., Prelle, A., Schapira, A. H., Binzoni, T., Chomyn, A., Fortunato, F., Cerretelli, P. and et al. (1990). "A case of mitochondrial myopathy, lactic acidosis and complex I deficiency." Journal of Neurology 237(7):399-404.
Bet, L., Moggio, M., Comi, G. P., Mariani, C., Prelle, A., Checcarelli, N., Bordoni, A., Bresolin, N., Scarpini, E. and Scarlato, G. (1994). "Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases." Journal of Neurology 241(8):511-516.
Betts, J., Barron, M. J., Needham, S. J., Schaefer, A. M., Taylor, R. W. and Turnbull, D. M. (2008). "Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation." Neurology 70(15):1290-1292.
Betts, J., Lightowlers, R. N. and Turnbull, D. M. (2004). "Neuropathological aspects of mitochondrial DNA disease." Neurochemical Research 29(3):505-511.
Betty, D. J., Chin-Atkins, A. N., Croft, L., Sraml, M. and Easteal, S. (1996). "Multiple independent origins of the COII/tRNALys intergenic 9-bp mtDNA deletion in aboriginal Australians." American Journal of Human Genetics 58(2):428-433.
Beyrath, J., Pellegrini, M., Renkema, H., Houben, L., Pecheritsyna, S., van Zandvoort, P., van den Broek, P., Bekel, A., Eftekhari, P. and Smeitink, J. A. M. (2018). "KH176 safeguards mitochondrial diseased cells from redox stress-induced cell death by interacting with the thioredoxin system/peroxiredoxin enzyme machinery." Scientific Reports 8(1):6577.
Bhat, A., Koul, A., Rai, E., Sharma, S., Dhar, M. K. and Bamezai, R. N. (2007). "PGC-1alpha Thr394Thr and Gly482Ser variants are significantly associated with T2DM in two North Indian populations: a replicate case-control study." Human Genetics 121(5):609-614.
Bhat, A., Koul, A., Sharma, S., Rai, E., Bukhari, S. I., Dhar, M. K. and Bamezai, R. N. (2007). "The possible role of 10398A and 16189C mtDNA variants in providing susceptibility to T2DM in two North Indian populations: a replicative study." Human Genetics 120(6):821-826.
Bhat, H. K., Hiatt, W. R., Hoppel, C. L. and Brass, E. P. (1999). "Skeletal muscle mitochondrial DNA injury in patients with unilateral peripheral arterial disease." Circulation 99(6):807-812.
Bhattacharyya, T., Karnezis, A. N., Murphy, S. P., Hoang, T., Freeman, B. C., Phillips, B. and Morimoto, R. I. (1995). "Cloning and subcellular localization of human mitochondrial hsp70." Journal of Biological Chemistry 270(4):1705-1710.
Bhatti, S., Aslam Khan, M., Abbas, S., Attimonelli, M., Gonzalez, G. R., Aydin, H. H. and de Souza, E. M. S. (2018). "Problems in mitochondrial DNA forensics: while interpreting length heteroplasmy conundrum of various Sindhi and Baluchi ethnic groups of Pakistan." Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis 29(4):501-510.
Bi, R., Li, W. L., Chen, M. Q., Zhu, Z. and Yao, Y. G. (2011). "Rapid identification of mtDNA somatic mutations in gastric cancer tissues based on the mtDNA phylogeny". Mutation Research 709-710:15-20.
Bi, R., Logan, I. and Yao, Y. G. (2017). "Leber hereditary optic neuropathy: a mitochondrial disease unique in many ways." Handbook of Experimental Pharmacology 240:309-336.
Bi, R., Zhang, A. M. and Yao, Y. G. (2011). "Leber's hereditary optic neuropathy". Ophthalmology 118(7):1489-1489 e1481.
Bi, R., Zhang, A. M., Jia, X., Zhang, Q. and Yao, Y. G. (2012). "Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy." Molecular Vision 18:3087-3094.
Bi, R., Zhang, A. M., Yu, D., Chen, D. and Yao, Y. G. (2010). "Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR." Clinica Chimica Acta 411(21-22):1671-1674.
Bi, R., Zhang, A. M., Zhang, W., Kong, Q. P., Wu, B. L., Yang, X. H., Wang, D., Zou, Y., Zhang, Y. P. and Yao, Y. G. (2010). "The acquisition of an inheritable 50-bp deletion in the human mtDNA control region does not affect the mtDNA copy number in peripheral blood cells." Human Mutation 31(5):538-543.
Biagini, G., Pallotti, F., Carraro, S., Sgarbi, G., Pich, M. M., Lenaz, G., Anzivino, F., Gualandi, G. and Xin, D. (1998). "Mitochondrial DNA in platelets from aged subjects." Mechanisms of Ageing & Development 101(3):269-275.
Biancheri, R., Rossi, D., Cassandrini, D., Rossi, A., Bruno, C. and Santorelli, F. M. (2010). "Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation." AJNR. American Journal of Neuroradiology 31(9):E78-79.
Bianchi, M. S., Bianchi, N. O. and Bailliet, G. (1995). "Mitochondrial DNA mutations in normal and tumor tissues from breast cancer patients." Cytogenetics and Cell Genetics 71(1):99-103.
Bianchi, N. O., Bianchi, M. S. and Richard, S. M. (2001). "Mitochondrial genome instability in human cancers." Mutation Research 488(1):9-23.
Bianco, A., Bisceglia, L., De Caro, M. F., Galeandro, V., De Bonis, P., Tullo, A., Zoccolella, S., Guerriero, S. and Petruzzella, V. (2018). "Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report." BMC Medical Genetics 19(1):129.
Bianco, A., Valletti, A., Longo, G., Bisceglia, L., Montoya, J., Emperador, S., Guerriero, S. and Petruzzella, V. (2018). "Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers." BMC Research Notes 11(1):911; data tables at https://figshare.com/articles/Data_Set_911_xlsx/7093559, https://figshare.com/articles/Data_Set_7093552_xlsx/7093619, and https://figshare.com/articles/Data_Set_7093553_xlsx/7093643.
Bibb, M. J., Van Etten, R. A., Wright, C. T., Walberg, M. W. and Clayton, D. A. (1981). "Sequence and gene organization of mouse mitochondrial DNA." Cell 26(2 Pt 2):167-180.
Bidooki, S. K., Johnson, M. A., Chrzanowska-Lightowlers, Z., Bindoff, L. A. and Lightowlers, R. N. (1997). "Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes." American Journal of Human Genetics 60(6):1430-1438.
Bidooki, S., Jackson, M. J., Johnson, M. A., Chrzanowska-Lightowlers, Z. M., Taylor, R. W., Venables, G., Lightowlers, R. N., Turnbull, D. M. and Bindoff, L. A. (2004). "Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene." Neuromuscular Disorders 14(7):417-420.
Bigger, B. W., Liao, A. Y., Sergijenko, A. and Coutelle, C. (2011). "Trial and error: how the unclonable human mitochondrial genome was cloned in yeast". Pharmaceutical Research 28(11):2863-2870.
Bilal, E., Rabadan, R., Alexe, G., Fuku, N., Ueno, H., Nishigaki, Y., Fujita, Y., Ito, M., Arai, Y., Hirose, N., Ruckenstein, A., Bhanot, G. and Tanaka, M. (2008). "Mitochondrial DNA haplogroup D4a is a marker for extreme longevity in Japan." PLoS ONE 3(6):e2421.
Binder, D. R., Dunn, W. H., Jr. and Swerdlow, R. H. (2005). "Molecular characterization of mtDNA depleted and repleted NT2 cell lines." Mitochondrion 5(4):255-265.
Bindoff, L. A., Birch-Machin, M., Cartlidge, N. E. F., Parker, W. D., Jr. and Turnbull, D. M. (1989). "Mitochondrial function in Parkinson's disease [letter; comment]." Lancet 2(8653):49.
Bindoff, L. A., Howell, N., Poulton, J., McCullough, D. A., Morten, K. J., Lightowlers, R. N., Turnbull, D. M. and Weber, K. (1993). "Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism." Journal of Biological Chemistry 268(26):19559-19564.
Bini, C., Ceccardi, S., Luiselli, D., Ferri, G., Pelotti, S., Colalongo, C., Falconi, M. and Pappalardo, G. (2003). "Different informativeness of the three hypervariable mitochondrial DNA regions in the population of Bologna (Italy)". Forensic Science International 135(1):48-52.
Biousse, V. and Newman, N. J. (2001). "Neuro-ophthalmology of mitochondrial diseases." Seminars in Neurology 21(3):275-291.
Biousse, V. and Newman, N. J. (2003). "Neuro-ophthalmology of mitochondrial diseases." Current Opinion in Neurology 16(1):35-43.
Biousse, V., Brown, M. D., Newman, N. J., Allen, J. C., Rosenfeld, J., Meola, G. and Wallace, D. C. (1997). "De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy." Neurology 49(4):1136-1138.
Birch-Machin, M. A., Taylor, R. W., Cochran, B., Ackrell, B. A. and Turnbull, D. M. (2000). "Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene." Annals of Neurology 48(3):330-335.
Birch-Machin, M. A., Tindall, M., Turner, R., Haldane, F. and Rees, J. L. (1998). "Mitochondrial DNA deletions in human skin reflect photo- rather than chronologic aging." Journal of Investigative Dermatology 110(2):149-152.
Birket, M. J., Passos, J. F., von Zglinicki, T. and Birch-Machin, M. A. (2009). "The relationship between the aging- and photo-dependent T414G mitochondrial DNA mutation with cellular senescence and reactive oxygen species production in cultured skin fibroblasts." Journal of Investigative Dermatology 129(6):1361-1366.
Birnbaum, F. A. and Gospe, S. M., 3rd (2021). "Severe Leber hereditary optic neuropathy plus disease in a middle-aged man." Journal of Neuro-Ophthalmology 41(4):e715-e717.
Blachly-Dyson, E., Baldini, A., Litt, M., McCabe, E. R. and Forte, M. (1994). "Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: mapping and identification of two new isoforms." Genomics 20(1):62-67.
Blachly-Dyson, E., Zambronicz, E. B., Yu, W. H., Adams, V., McCabe, E. R., Adelman, J., Colombini, M. and Forte, M. (1993). "Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel." Journal of Biological Chemistry 268(3):1835-1841.
Blahos, J., 2nd, Whalin, M. E. and Krueger, K. E. (1995). "Identification and purification of a 10-kilodalton protein associated with mitochondrial benzodiazepine receptors." Journal of Biological Chemistry 270(35):20285-20291.
Blake, J. C., Taanman, J. W., Morris, A. M., Gray, R. G., Cooper, J. M., McKiernan, P. J., Leonard, J. V. and Schapira, A. H. (1999). "Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures." American Journal of Pathology 155(1):67-70.
Blakely, E. L., de Silva, R., King, A., Schwarzer, V., Harrower, T., Dawidek, G., Turnbull, D. M. and Taylor, R. W. (2005). "LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation." European Journal of Human Genetics 13(5):623-627.
Blakely, E. L., He, L., Taylor, R. W., Chinnery, P. F., Lightowlers, R. N., Schaefer, A. M. and Turnbull, D. M. (2004). "Mitochondrial DNA deletion in "identical" twin brothers." Journal of Medical Genetics 41(2):e19.
Blakely, E. L., Mitchell, A. L., Fisher, N., Meunier, B., Nijtmans, L. G., Schaefer, A. M., Jackson, M. J., Turnbull, D. M. and Taylor, R. W. (2005). "A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast." The Febs Journal 272(14):3583-3592.
Blakely, E. L., Poulton, J., Pike, M., Wojnarowska, F., Turnbull, D. M., McFarland, R. and Taylor, R. W. (2004). "Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation." Journal of the Neurological Sciences 225(1-2):99-103.
Blakely, E. L., Swalwell, H., Petty, R. K., McFarland, R., Turnbull, D. M. and Taylor, R. W. (2007). "Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation." Journal of Neurology 254(9):1283-1285.
Blakely, E. L., Trip, S. A., Swalwell, H., He, L., Wren, D. R., Rich, P., Turnbull, D. M., Omer, S. E. and Taylor, R. W. (2009). "A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features." Archives of Neurology 66(3):399-402.
Blakely, E. L., Yarham, J. W., Alston, C. L., Craig, K., Poulton, J., Brierley, C., Park, S.-M., Dean, A., Xuereb, J. H., Anderson, K. N., Compston, A., Allen, C., Sharif, S., Enevoldson, P., Wilson, M., Hammans, S. R., Turnbull, D. M., McFarland, R. and Taylor, R. W. (2013). "Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease". Human Mutation 34(9):1260-1268.
Blanc, H., Adams, C. W. and Wallace, D. C. (1981). "Different nucleotide changes in the large rRNA gene of the mitochondrial DNA confer chloramphenicol resistance on two human cell lines." Nucleic Acids Research 9(21):5785-5795.
Blanc, H., Chen, K. H., D'Amore, M. A. and Wallace, D. C. (1983). "Amino acid change associated with the major polymorphic Hinc II site of Oriental and Caucasian mitochondrial DNAs." American Journal of Human Genetics 35(2):167-176.
Blanc, H., Wright, C. T., Bibb, M. J., Wallace, D. C. and Clayton, D. A. (1981). "Mitochondrial DNA of chloramphenicol-resistant mouse cells contains a single nucleotide change in the region encoding the 3' end of the large ribosomal RNA." Proceedings of the National Academy of Sciences of the United States of America 78(6):3789-3793.
Blanchard, B. J., Park, T., Fripp, W. J., Lerman, L. S. and Ingram, V. M. (1993). "A mitochondrial DNA deletion in normally aging and in Alzheimer brain tissue." Neuroreport 4(6):799-802.
Blanco-Grau, A., Bonaventura-Ibars, I., Coll-Canti, J., Melia, M. J., Martinez, R., Martinez-Gallo, M., Andreu, A. L., Pinos, T. and Garcia-Arumi, E. (2013). "Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome." Genes, Brain, and Behavior 12(8):812-820.
Blanco, R., Mayordomo, E., Montoya, J. and Ruiz-Pesini, E. (2011). "Rebooting the human mitochondrial phylogeny: an automated and scalable methodology with expert knowledge". BMC Bioinformatics 12:174.
Blasiak, J. and Szaflik, J. P. (2011). "DNA damage and repair in age-related macular degeneration." Frontiers in Bioscience: A Journal and Virtual Library 16:1291-1301.
Blass, J. P., Baker, A. C., Ko, L. and Black, R. S. (1990). "Induction of Alzheimer antigens by an uncoupler of oxidative phosphorylation." Archives of Neurology 47(8):864-869.
Blaw, M. E. and Mize, C. E. (1990). "Juvenile Pearson syndrome." Journal of Child Neurology 5(3):187-190.
Blazej, R. G., Paegel, B. M. and Mathies, R. A. (2003). "Polymorphism ratio sequencing: a new approach for single nucleotide polymorphism discovery and genotyping." Genome Research 13(2):287-293.
Blier, P. U., Dufresne, F. and Burton, R. S. (2001). "Natural selection and the evolution of mtDNA-encoded peptides: evidence for intergenomic co-adaptation." Trends in Genetics 17(7):400-406.
Blin, O., Desnuelle, C., Rascol, O., Borg, M., Peyro Saint Paul, H., Azulay, J. P., Bille, F., Figarella, D., Coulom, F., Pellissier, J. F., Montastruc, J. L., Chatel, M. and Serratrice, G. (1994). "Mitochondrial respiratory failure in skeletal muscle from patients with Parkinson's disease and multiple system atrophy." Journal of the Neurological Sciences 125(1):95-101.
Blochlinger, K. and Diggelmann, H. (1984). "Hygromycin B phosphotransferase as a selectable marker for DNA transfer experiments with higher eucaryotic cells." Molecular & Cellular Biology 4(12):2929-2931.
Blok, M. J., Spruijt, L., de Coo, I. F., Schoonderwoerd, K., Hendrickx, A. and Smeets, H. J. (2007). "Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease." Journal of Medical Genetics 44(4):e74.
Blok, R. B., Gook, D. A., Thorburn, D. R. and Dahl, H. H. (1997). "Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes." American Journal of Human Genetics 60(6):1495-1501.
Blok, R. B., Thorburn, D. R., Thompson, G. N. and Dahl, H. H. (1995). "A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion." Human Genetics 95(1):75-81.
Blume, G., Pestronk, A., Frank, B. and Johns, D. R. (1997). "Polymyositis with cytochrome oxidase negative muscle fibres. Early quadriceps weakness and poor response to immunosuppressive therapy." Brain 120(Pt 1):39-45.
Blumenthal, D. T., Shanske, S., Schochet, S. S., Santorelli, F. M., DiMauro, S., Jaynesm, M. and Bodensteiner, J. (1998). "Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions." Neurology 50(2):524-525.
Boattini, A., Castri, L., Sarno, S., Useli, A., Cioffi, M., Sazzini, M., Garagnani, P., De Fanti, S., Pettener, D. and Luiselli, D. (2013). "mtDNA variation in East Africa unravels the history of Afro-Asiatic groups." American Journal of Physical Anthropology 150(3):375-385.
Boattini, A., Sarno, S., Pedrini, P., Medoro, C., Carta, M., Tucci, S., Ferri, G., Alu, M., Luiselli, D. and Pettener, D. (2015). "Traces of medieval migrations in a socially stratified population from Northern Italy. Evidence from uniparental markers and deep-rooted pedigrees." Heredity 114(2):155-162.
Boczonadi, V., Bansagi, B. and Horvath, R. (2015). "Reversible infantile mitochondrial diseases." Journal of Inherited Metabolic Disease 38(3):427-435.
Boczonadi, V., Smith, P. M., Pyle, A., Gomez-Duran, A., Schara, U., Tulinius, M., Chinnery, P. F. and Horvath, R. (2013). "Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency." Human Molecular Genetics 22(22):4602-4615.
Bodamer Research Lab (2017). "National Center for Biotechnology Information. ClinVar; [VCV000440835.1], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000440835.1 (accessed Oct. 10, 2019). ." ClinVar NC_012920.1:m.7965T>C.
Bodemer, C., Rotig, A., Rustin, P., Cormier, V., Niaudet, P., Saudubray, J. M., Rabier, D., Munnich, A. and de Prost, Y. (1999). "Hair and skin disorders as signs of mitochondrial disease." Pediatrics 103(2):428-433.
Bodenteich, A., Mitchell, L. G. and Merril, C. R. (1991). "A lifetime of retinal light exposure does not appear to increase mitochondrial mutations." Gene 108(2):305-310.
Bodenteich, A., Mitchell, L. G., Polymeropoulos, M. H. and Merril, C. R. (1992). "Dinucleotide repeat in the human mitochondrial D-loop." Human Molecular Genetics 1(2):140.
Bodis-Wollner, I., Chung, E., Ghilardi, M. F., Glover, A., Onofrj, M., Pasik, P. and Samson, Y. (1991). "Acetyl-levo-carnitine protects against MPTP-induced parkinsonism in primates." Journal of Neural Transmission - Parkinsons Disease & Dementia Section 3(1):63-72.
Bodnar, A. G., Cooper, J. M., Holt, I. J., Leonard, J. V. and Schapira, A. H. (1993). "Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion." American Journal of Human Genetics 53(3):663-669.
Bodnar, A. G., Cooper, J. M., Leonard, J. V. and Schapira, A. H. (1995). "Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication." Biochemical Journal 305(Pt 3):817-822.
Bodner, M., Perego, U. A., Huber, G., Fendt, L., Rock, A. W., Zimmermann, B., Olivieri, A., Gomez-Carballa, A., Lancioni, H., Angerhofer, N., Bobillo, M. C., Corach, D., Woodward, S. R., Salas, A., Achilli, A., Torroni, A., Bandelt, H. J. and Parson, W. (2012). "Rapid coastal spread of First Americans: novel insights from South America's Southern Cone mitochondrial genomes." Genome Research 22(5):811-820.
Bodyak, N. D., Nekhaeva, E., Wei, J. Y. and Khrapko, K. (2001). "Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues." Human Molecular Genetics 10(1):17-24.
Boffoli, D., Scacco, S. C., Vergari, R., Solarino, G., Santacroce, G. and Papa, S. (1994). "Decline with age of the respiratory chain activity in human skeletal muscle." Biochimica et Biophysica Acta 1226(1):73-82.
Bogenhagen, D. F. (2012). "Mitochondrial DNA nucleoid structure". Biochimica et Biophysica Acta 1819(9-10):914-920.
Bogenhagen, D. and Clayton, D. A. (1974). "The number of mitochondrial deoxyribonucleic acid genomes in mouse L and human HeLa cells. Quantitative isolation of mitochondrial deoxyribonucleic acid." The Journal of Biological Chemistry 249(24):7991-7995.
Bogenhagen, D. F. and Clayton, D. A. (2003). "The mitochondrial DNA replication bubble has not burst." Trends in Biochemical Sciences 28(7):357-360.
Bogenhagen, D. F., Applegate, E. F. and Yoza, B. K. (1984). "Identification of a promoter for transcription of the heavy strand of human mtDNA: in vitro transcription and deletion mutagenesis." Cell 36(4):1105-1113.
Bohm, M., Pronicka, E., Karczmarewicz, E., Pronicki, M., Piekutowska-Abramczuk, D., Sykut-Cegielska, J., Mierzewska, H., Hansikova, H., Vesela, K., Tesarova, M., Houstkova, H., Houstek, J. and Zeman, J. (2006). "Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency." Pediatric Research 59(1):21-26.
Bohr, V. A. (1991). "Gene specific DNA repair." Carcinogenesis 12(11):1983-1992.
Bohr, V. A. (2002). "DNA damage and its processing. relation to human disease." Journal of Inherited Metabolic Disease 25(3):215-222.
Bohr, V., Anson, R. M., Mazur, S. and Dianov, G. (1998). "Oxidative DNA damage processing and changes with aging." Toxicology Letters 102-103:47-52.
Boise, L. H., Gonzalez-Garcia, M., Postema, C. E., Ding, L., Lindsten, T., Turka, L. A., Mao, X., Nunez, G. and Thompson, C. B. (1993). "Bcl-x, a bcl-2-related gene that functions as a dominant regulator of apoptotic cell death." Cell 74(4):597-608.
Boles, R. G., Adams, K., Ito, M. and Li, B. U. (2003). "Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease." American Journal of Medical Genetics 120A(4):474-482.
Boles, R. G., Baldwin, E. E. and Prezant, T. R. (2007). "Combined cyclic vomiting and Kearns-Sayre syndromes." Pediatric Neurology 36(2):135-136.
Boles, R. G., Chun, N., Senadheera, D. and Wong, L. J. (1997). "Cyclic vomiting syndrome and mitochondrial DNA mutations." Lancet 350(9087):1299-1300.
Boles, R. G., Luna, C. and Ito, M. (2003). "Severe reversible cardiomyopathy in four unrelated infants associated with mitochondrial DNA D-loop heteroplasmy." Pediatric Cardiology 24(5):484-487.
Boles, R. G., Roe, T., Senadheera, D., Mahnovski, V. and Wong, L. J. (1998). "Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease." European Journal of Pediatrics 157(8):643-647.
Boles, R. G., Zaki, E. A., Lavenbarg, T., Hejazi, R., Foran, P., Freeborn, J., Trilokekar, S. and McCallum, R. (2009). "Are pediatric and adult-onset cyclic vomiting syndrome (CVS) biologically different conditions? Relationship of adult-onset CVS with the migraine and pediatric CVS-associated common mtDNA polymorphisms 16519T and 3010A". Neurogastroenterology and Motility 21(9):936-e972.
Boles, T. C., Snow, C. C. and Stover, E. (1995). "Forensic DNA testing on skeletal remains from mass graves: a pilot project in Guatemala." Journal of Forensic Sciences 40(3):349-355.
Bolhuis, P. A., Bleeker-Wagemakers, E. M., Ponne, N. J., Van Schooneveld, M. J., Westerveld, A., Van den Bogert, C. and Tabak, H. F. (1990). "Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy." Biochemical and Biophysical Research Communications 170(3):994-997.
Bollongino, R., Nehlich, O., Richards, M. P., Orschiedt, J., Thomas, M. G., Sell, C., Fajkosova, Z., Powell, A. and Burger, J. (2013). "2000 years of parallel societies in stone age central Europe". Science 342(6157):479-481.
Bolnick, D. A. and Smith, D. G. (2003). "Unexpected patterns of mitochondrial DNA variation among Native Americans from the southeastern United States." American Journal of Physical Anthropology 122(4):336-354.
Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Rashkin, M., Bowes, J., Cirulli, E. T., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020). "Selective constraints and pathogenicity of mitochondrial DNA variants inferred from a novel database of 196,554 unrelated individuals." bioRxiv:798264.
Bonatto, S. L. and Salzano, F. M. (1997). "Diversity and age of the four major mtDNA haplogroups, and their implications for the peopling of the New World." American Journal of Human Genetics 61(6):1413-1423.
Bonawitz, N. D., Clayton, D. A. and Shadel, G. S. (2006). "Initiation and beyond: multiple functions of the human mitochondrial transcription machinery." Molecular Cell 24(6):813-825.
Bonekamp, N. A., Jiang, M., Motori, E., Garcia Villegas, R., Koolmeister, C., Atanassov, I., Mesaros, A., Park, C. B. and Larsson, N. G. (2021). "High levels of TFAM repress mammalian mitochondrial DNA transcription in vivo." Life Science Alliance 4(11):e202101034.
Bonham, J. R., Guthrie, P., Downing, M., Allen, J. C., Tanner, M. S., Sharrard, M., Rittey, C., Land, J. M., Fensom, A., O'Neill, D., Duley, J. A. and Fairbanks, L. D. (1999). "The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease." Journal of Inherited Metabolic Disease 22(2):174-184.
Bonilla, E., Tanji, K., Hirano, M., Vu, T. H., DiMauro, S. and Schon, E. A. (1999). "Mitochondrial involvement in Alzheimer's disease." Biochimica et Biophysica Acta 1410(2):171-182.
Bonne-Tamir, B., Johnson, M. J., Natali, A., Wallace, D. C. and Cavalli-Sforza, L. L. (1986). "Human mitochondrial DNA types in two Israeli populations--a comparative study at the DNA level." American Journal of Human Genetics 38(3):341-351.
Bonne-Tamir, B., Korostishevsky, M., Redd, A. J., Pel-Or, Y., Kaplan, M. E. and Hammer, M. F. (2003). "Maternal and paternal lineages of the Samaritan isolate: mutation rates and time to most recent common male ancestor." Annals of Human Genetics 67(2):153-164.
Bonnet, C., Augustin, S., Ellouze, S., Benit, P., Bouaita, A., Rustin, P., Sahel, J. A. and Corral-Debrinski, M. (2008). "The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes." Biochimica et Biophysica Acta 1783(10):1707-1717.
Bonnet, C., Kaltimbacher, V., Ellouze, S., Augustin, S., Benit, P., Forster, V., Rustin, P., Sahel, J. A. and Corral-Debrinski, M. (2007). "Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits." Rejuvenation Research 10(2):127-144.
Bono, F., Lamarche, I., Prabonnaud, V., Le Fur, G. and Herbert, J. M. (1999). "Peripheral benzodiazepine receptor agonists exhibit potent antiapoptotic activities." Biochemical & Biophysical Research Communications 265(2):457-461.
Bonod-Bidaud, C., Giraud, S., Mandon, G., Mousson, B. and Stepien, G. (1999). "Quantification of OXPHOS gene transcripts during muscle cell differentiation in patients with mitochondrial myopathies." Experimental Cell Research 246(1):91-97.
Bonte, C. A., Matthijs, G. L., Cassiman, J. J. and Leys, A. M. (1997). "Macular pattern dystrophy in patients with deafness and diabetes." Retina 17(3):216-221.
Booker, L. M., Habermacher, G. M., Jessie, B. C., Sun, Q. C., Baumann, A. K., Amin, M., Lim, S. D., Fernandez-Golarz, C., Lyles, R. H., Brown, M. D., Marshall, F. F. and Petros, J. A. (2006). "North American white mitochondrial haplogroups in prostate and renal cancer." Journal of Urology 175(2):468-472; discussion 472-473.
Boon, K., Osorio, E. C., Greenhut, S. F., Schaefer, C. F., Shoemaker, J., Polyak, K., Morin, P. J., Buetow, K. H., Strausberg, R. L., De Souza, S. J. and Riggins, G. J. (2002). "An anatomy of normal and malignant gene expression." Proceedings of the National Academy of Sciences of the United States of America 99(17):11287-11292.
Boore, J. L. (1997). "Transmission of mitochondrial DNA--playing favorites?" Bioessays 19(9):751-753.
Boos, F., Wollin, M. and Herrmann, J. M. (2016). "Methionine on the rise: how mitochondria changed their codon usage." EMBO Journal 35(19):2066-2067.
Borchert, A., Wolf, N. I. and Wilichowski, E. (2002). "Current concepts of mitochondrial disorders in childhood." Seminars in Pediatric Neurology 9(2):151-159.
Borisov, V. B. (2004). "Mutations in respiratory chain complexes and human diseases." Italian Journal of Biochemistry 53(1):34-40.
Borner, G. V., Zeviani, M., Tiranti, V., Carrara, F., Hoffmann, S., Gerbitz, K. D., Lochmuller, H., Pongratz, D., Klopstock, T., Melberg, A., Holme, E. and Paabo, S. (2000). "Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients." Human Molecular Genetics 9(4):467-475.
Bornstein, B., Mas, J. A., Fernandez-Moreno, M. A., Campos, Y., Martin, M. A., del Hoyo, P., Rubio, J. C., Arenas, J. and Garesse, R. (2002). "The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines." Human Mutation 19(3):234-239.
Bornstein, B., Mas, J. A., Patrono, C., Fernandez-Moreno, M. A., Gonzalez-Vioque, E., Campos, Y., Carrozzo, R., Martin, M. A., del Hoyo, P., Santorelli, F. M., Arenas, J. and Garesse, R. (2005). "Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene." Biochemical Journal 387(Pt 3):773-778.
Borthwick, G. M., Taylor, R. W., Walls, T. J., Tonska, K., Taylor, G. A., Shaw, P. J., Ince, P. G. and Turnbull, D. M. (2006). "Motor neuron disease in a patient with a mitochondrial tRNA(Ile) mutation". Annals of Neurology 59(3):570-574.
Bortolini, M. C., Da Silva, W. A., Zago, M. A., Elion, J., Krishnamoorthy, R., Goncalves, V. F. and Pena, S. D. (2004). "The phylogeography of mitochondrial DNA haplogroup L3G in Africa and the Atlantic slave trade." American Journal of Human Genetics 75(3):522-524; author reply 524-526.
Bortolini, M. C., Salzano, F. M., Bau, C. H., Layrisse, Z., Petzl-Erler, M. L., Tsuneto, L. T., Hill, K., Hurtado, A. M., Castro-De-Guerra, D., Bedoya, G. and Ruiz-Linares, A. (2002). "Y-chromosome biallelic polymorphisms and Native American population structure." Annals of Human Genetics 66(Pt 4):255-259.
Bortolini, M. C., Salzano, F. M., Zago, M. A., Da Silva, W. A., Jr. and Weimer, T. d. A. (1997). "Genetic variability in two Brazilian ethnic groups: a comparison of mitochondrial and protein data." American Journal of Physical Anthropology 103(2):147-156.
Bortot, B., Barbi, E., Biffi, S., Angelini, C., Faleschini, E., Severini, G. M. and Carrozzi, M. (2009). "Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy." Mitochondrion 9(2):123-129.
Bosetti, F., Brizzi, F., Barogi, S., Mancuso, M., Siciliano, G., Tendi, E. A., Murri, L., Rapoport, S. I. and Solaini, G. (2002). "Cytochrome c oxidase and mitochondrial F1F0-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer's disease." Neurobiology of Aging 23(3):371-376.
Bosley, T. M. and Abu-Amero, K. K. (2010). "Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies." Ophthalmic Genetics 31(4):163-172.
Bosley, T. M., Abu-Amero, K. K. and Ozand, P. T. (2004). "Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy." Neurology 63(7):1305-1308.
Bosley, T. M., Brodsky, M., Glasier, C. M. and Abu-Amero, K. K. (2008). "Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities." Investigative Ophthalmology and Visual Science 49(12):5250-5256.
Bosley, T. M., Constantinescu, C. S., Tench, C. R. and Abu-Amero, K. (2007). "Mitochondrial changes in leukocytes of patients with optic neuritis." Molecular Vision 13:1516-1528.
Boss, O., Samec, S., Paoloni-Giacobino, A., Rossier, C., Dulloo, A., Seydoux, J., Muzzin, P. and Giacobino, J. P. (1997). "Uncoupling protein-3: a new member of the mitochondrial carrier family with tissue-specific expression." FEBS Letters 408(1):39-42.
Botelho, G. I. S., Salomao, S. R., Tengan, C. H., Karanjia, R., Moura, F. V., Rocha, D. M., da Silva, P. B. E., Fernandes, A. G., Watanabe, S. E. S., Sacai, P. Y., Belfort, R., Jr., Carelli, V., Sadun, A. A. and Berezovsky, A. (2020). "Impaired ganglion cell function objectively assessed by the photopic negative response in affected and asymptomatic members from Brazilian families with Leber's hereditary optic neuropathy." Frontiers in Neurology 11:628014.
Botto, N., Berti, S., Manfredi, S., Al-Jabri, A., Federici, C., Clerico, A., Ciofini, E., Biagini, A. and Andreassi, M. G. (2005). "Detection of mtDNA with 4977 bp deletion in blood cells and atherosclerotic lesions of patients with coronary artery disease." Mutation Research 570(1):81-88.
Botstein, D., Chervitz, S. A. and Cherry, J. M. (1997). "Yeast as a model organism [comment]." Science 277(5330):1259-1260.
Bouillot, S., Martin-Negrier, M. L., Vital, A., Ferrer, X., Lagueny, A., Vincent, D., Coquet, M., Orgogozo, J. M., Bloch, B. and Vita, C. (2002). "Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature." Journal of the Peripheral Nervous System 7(4):213-220.
Boulet, L., Karpati, G. and Shoubridge, E. A. (1992). "Distribution and threshold expression of the tRNALys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)." American Journal of Human Genetics 51(6):1187-1200.
Bourgeron, T., Chretien, D., Rotig, A., Munnich, A. and Rustin, P. (1993). "Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures." Journal of Biological Chemistry 268(26):19369-19376.
Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Pequignot, E., Munnich, A. and Rotig, A. (1995). "Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency." Nature Genetics 11:144-149.
Boursot, P., Yonekawa, H. and Bonhomme, F. (1987). "Heteroplasmy in mice with deletion of a large coding region of mitochondrial DNA." Molecular Biology and Evolution 4(1):46-55.
Boustany, R. N., Aprille, J. R., Halperin, J., Levy, H. and DeLong, G. R. (1983). "Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin." Annals of Neurology 14(4):462-470.
Bouzidi, A., Aboussair, N., Charif, M., Amalou, G., Goudenege, D., Desquiret-Dumas, V., Bris, C., Sifeddine, N., Nahili, H., Elqabli, M., Dafir, K., Kandil, M., Amati-Bonneau, P., Procaccio, V., Barakat, A. and Lenaers, G. (2020). "First characterization of LHON pedigrees in North Africa." Eye (London, England) 34(11):2138-2139.
Bouzidi, M. F., Carrier, H. and Godinot, C. (1996). "Antimycin resistance and ubiquinol cytochrome c reductase instability associated with a human cytochrome b mutation." Biochimica et Biophysica Acta 1317(3):199-209.
Bouzidi, M. F., Poyau, A. and Godinot, C. (1998). "Co-existence of high levels of a cytochrome b mutation and of a tandem 200 bp duplication in the D-loop of muscle human mitochondrial DNA." Human Molecular Genetics 7(3):385-391.
Boveris, A. (1984). "Determination of the production of superoxide radicals and hydrogen peroxide in mitochondria." Methods in Enzymology 105:429-435.
Boveris, A. and Turrens, J. F. (1980). "Production of superoxide anion by the NADH-dehydrogenase of mamalian mitochondria." In Chemical and Biochemical Aspects of Superoxide and Superoxide Dismutase. Developments in Biochemistry. 11A: 84-91; New York, Elsevier-North Holland. Bannister, J. V. and Hill, H. A. O., Eds.
Boveris, A., Oshino, N. and Chance, B. (1972). "The cellular production of hydrogen peroxide." Biochemical Journal 128(3):617-630.
Bowles, N. E. and Towbin, J. A. (1998). "Molecular aspects of myocarditis." Current Opinion in Cardiology 13(3):179-184.
Bowling, A. C., Mutisya, E. M., Walker, L. C., Price, D. L., Cork, L. C. and Beal, M. F. (1993). "Age-dependent impairment of mitochondrial function in primate brain." Journal of Neurochemistry 60(5):1964-1967.
Bowmaker, M., Yang, M. Y., Yasukawa, T., Reyes, A., Jacobs, H. T., Huberman, J. A. and Holt, I. J. (2003). "Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone." Journal of Biological Chemistry 278(51):50961-50969.
Boyer, P. D. (1993). "The binding change mechanism for ATP synthase--some probabilities and possibilities." Biochimica et Biophysica Acta 1140(3):215-250.
Boyson, S. J. (1991). "Parkinson's disease and the electron transport chain [editorial]." Ann Neurol 30(3):330-331.
Brackmann, F., Abicht, A., Ahting, U., Schroder, R. and Trollmann, R. (2012). "Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation". European Journal of Pediatrics 171(5):859-862.
Brady, L., Sadikovic, B., Rupar, C. A. and Tarnopolsky, M. A. (2019). "Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation." Mitochondrion 45:18-21.
Bragoszewski, P., Kupryjanczyk, J., Bartnik, E., Rachinger, A. and Ostrowski, J. (2008). "Limited clinical relevance of mitochondrial DNA mutation and gene expression analyses in ovarian cancer." BMC Cancer 8:292.
Brahimi, N., Jambou, M., Sarzi, E., Serre, V., Boddaert, N., Romano, S., de Lonlay, P., Slama, A., Munnich, A., Rotig, A., Bonnefont, J. P. and Lebre, A. S. (2009). "The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome." Molecular Genetics and Metabolism 97(3):221-226.
Brand, M. D. (2000). "Uncoupling to survive? The role of mitochondrial inefficiency in ageing". Experimental Gerontology 35(6-7):811-820.
Brandon, M. C., Lott, M. T., Nguyen, K. C., Spolim, S., Navathe, S. B., Baldi, P. and Wallace, D. C. (2005). "MITOMAP: a human mitochondrial genome database--2004 update." Nucleic Acids Research 33 Database Issue:D611-613.
Brandon, M., Baldi, P. and Wallace, D. C. (2006). "Mitochondrial mutations in cancer." Oncogene 25(34):4647-4662.
Brandstatter, A., Niederstatter, H. and Parson, W. (2004). "Monitoring the inheritance of heteroplasmy by computer-assisted detection of mixed basecalls in the entire human mitochondrial DNA control region." International Journal of Legal Medicine 118(1):47-54.
Brandstatter, A., Parsons, T. J. and Parson, W. (2003). "Rapid screening of mtDNA coding region SNPs for the identification of west European Caucasian haplogroups." International Journal of Legal Medicine 117(5):291-298.
Brandstatter, A., Peterson, C. T., Irwin, J. A., Mpoke, S., Koech, D. K., Parson, W. and Parsons, T. J. (2004). "Mitochondrial DNA control region sequences from Nairobi (Kenya): inferring phylogenetic parameters for the establishment of a forensic database." International Journal of Legal Medicine 118(5):294-306.
Brandstatter, A., Salas, A., Niederstatter, H., Gassner, C., Carracedo, A. and Parson, W. (2006). "Dissection of mitochondrial superhaplogroup H using coding region SNPs." Electrophoresis 27(13):2541-2550.
Brandstatter, A., Sanger, T., Lutz-Bonengel, S., Parson, W., Beraud-Colomb, E., Wen, B., Kong, Q. P., Bravi, C. M. and Bandelt, H. J. (2005). "Phantom mutation hotspots in human mitochondrial DNA." Electrophoresis 26(18):3414-3429.
Brandt, G., Haak, W., Adler, C. J., Roth, C., Szecsenyi-Nagy, A., Karimnia, S., Moller-Rieker, S., Meller, H., Ganslmeier, R., Friederich, S., Dresely, V., Nicklisch, N., Pickrell, J. K., Sirocko, F., Reich, D., Cooper, A. and Alt, K. W. (2013). "Ancient DNA reveals key stages in the formation of central European mitochondrial genetic diversity". Science 342(6155):257-261.
Brandt, G., Szecsenyi-Nagy, A., Roth, C., Alt, K. W. and Haak, W. (2015). "Human paleogenetics of Europe--the known knowns and the known unknowns." Journal of Human Evolution 79:73-92.
Branicki, W., Kalista, K., Kupiec, T., Wolanska-Nowak, P., Zoledziewska, M. and Lessig, R. (2005). "Distribution of mtDNA haplogroups in a population sample from Poland." Journal of Forensic Sciences 50(3):732-733.
Bratic, I. and Trifunovic, A. (2010). "Mitochondrial energy metabolism and ageing." Biochimica et Biophysica Acta 1797(6-7):961-967.
Brautbar, A., Wang, J., Abdenur, J. E., Chang, R. C., Thomas, J. A., Grebe, T. A., Lim, C., Weng, S. W., Graham, B. H. and Wong, L. J. (2008). "The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle." Molecular Genetics and Metabolism 94(4):485-490.
Braverman, I., Jaber, L., Levi, H., Adelman, C., Arons, K. S., Fischel-Ghodsian, N., Shohat, M. and Elidan, J. (1996). "Audiovestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides." Archives of Otolaryngology -- Head and Neck Surgery 122(9):1001-1004.
Bravi, D., Anderson, J. J., Dagani, F., Davis, T. L., Ferrari, R., Gillespie, M. and Chase, T. N. (1992). "Effect of aging and dopaminomimetic therapy on mitochondrial respiratory function in Parkinson's disease." Movement Disorders 7(3):228-231.
Bravo, O., Ballana, E. and Estivill, X. (2006). "Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene." Biochemical and Biophysical Research Communications 344(2):511-516.
Breen, G. A. (1988). "Bovine liver cDNA clones encoding a precursor of the alpha-subunit of the mitochondrial ATP synthase complex." Biochemical and Biophysical Research Communications 152(1):264-269.
Breen, G. A., Miller, D. L., Holmans, P. L. and Welch, G. (1986). "Mitochondrial DNA of two independent oligomycin-resistant Chinese hamster ovary cell lines contains a single nucleotide change in the ATPase 6 gene." Journal of Biological Chemistry 261(25):11680-11685.
Brega, A., Gardella, R., Semino, O., Morpurgo, G., Astaldi Ricotti, G. B., Wallace, D. C. and Santachiara Benerecetti, A. S. (1986). "Genetic studies on the Tharu population of Nepal: restriction endonuclease polymorphisms of mitochondrial DNA." American Journal of Human Genetics 39(4):502-512.
Brega, A., Scozzari, R., Maccioni, L., Iodice, C., Wallace, D. C., Bianco, I., Cao, A. and Santachiara Benerecetti, A. S. (1986). "Mitochondrial DNA polymorphisms in Italy. I. Population data from Sardinia and Rome." Annals of Human Genetics 50(Pt 4):327-338.
Brehm, A., Pereira, L., Bandelt, H. J., Prata, M. J. and Amorim, A. (2002). "Mitochondrial portrait of the Cabo Verde archipelago: the Senegambian outpost of Atlantic slave trade." Annals of Human Genetics 66(1):49-60.
Brennan, W. A., Jr., Bird, E. D. and Aprille, J. R. (1985). "Regional mitochondrial respiratory activity in Huntington's Disease brain." Journal of Neurochemistry 44(6):1948-1950.
Brenner, C. A., Barritt, J. A., Willadsen, S. and Cohen, J. (2000). "Mitochondrial DNA heteroplasmy after human ooplasmic transplantation." Fertility and Sterility 74(3):573-578.
Brenner, C. A., Wolny, Y. M., Barritt, J. A., Matt, D. W., Munne, S. and Cohen, J. (1998). "Mitochondrial DNA deletion in human oocytes and embryos." Molecular Human Reproduction 4(9):887-892.
Brenner, C. and Kroemer, G. (2000). "Apoptosis: Mitochondria--the death signal integrators." Science 289(5482):1150-1151.
Brewer, G. J., Jones, T. T., Wallimann, T. and Schlattner, U. (2004). "Higher respiratory rates and improved creatine stimulation in brain mitochondria isolated with anti-oxidants." Mitochondrion 4(1):49-57.
Brierley, E. J., Johnson, M. A., James, O. F. and Turnbull, D. M. (1997). "Mitochondrial involvement in the ageing process. Facts and controversies." Molecular & Cellular Biochemistry 174(1-2):325-328.
Brierley, E. J., Johnson, M. A., Lightowlers, R. N., James, O. F. and Turnbull, D. M. (1998). "Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle." Annals of Neurology 43(2):217-223.
Brini, M., Pinton, P., King, M. P., Davidson, M., Schon, E. A. and Rizzuto, R. (1999). "A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency." Nature Medicine 5(8):951-954.
Bris, C., Goudenege, D., Desquiret-Dumas, V., Charif, M., Colin, E., Bonneau, D., Amati-Bonneau, P., Lenaers, G., Reynier, P. and Procaccio, V. (2018). "Bioinformatics tools and databases to assess the pathogenicity of mitochondrial DNA variants in the field of next generation equencing." Frontiers in Genetics 9:632.
Brocard, J., Warot, X., Wendling, O., Messaddeq, N., Vonesch, J. L., Chambon, P. and Metzger, D. (1997). "Spatio-temporally controlled site-specific somatic mutagenesis in the mouse." Proceedings of the National Academy of Sciences of the United States of America 94(26):14559-14563.
Brockington, M., Alsanjari, N., Sweeney, M. G., Morgan-Hughes, J. A., Scaravilli, F. and Harding, A. E. (1995). "Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study." Journal of the Neurological Sciences 131(1):78-87.
Brockington, M., Sweeney, M. G., Hammans, S. R., Morgan-Hughes, J. A. and Harding, A. E. (1993). "A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies." Nature Genetics 4(1):67-71.
Broker, S., Meunier, B., Rich, P., Gattermann, N. and Hofhaus, G. (1998). "MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase." European Journal of Biochemistry 258(1):132-138.
Brookes, P. S. (2004). "Mitochondrial nitric oxide synthase." Mitochondrion 3(4):187-204.
Brosius, J. and Gould, S. J. (1992). "On "genomenclature": a comprehensive (and respectful) taxonomy for pseudogenes and other "junk DNA"." Proceedings of the National Academy of Sciences of the United States of America 89(22):10706-10710.
Brotherton, P., Haak, W., Templeton, J., Brandt, G., Soubrier, J., et al. (2013). "Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans". Nature Communications 4:1764.
Brown, D. T., Herbert, M., Lamb, V. K., Chinnery, P. F., Taylor, R. W., Lightowlers, R. N., Craven, L., Cree, L., Gardner, J. L. and Turnbull, D. M. (2006). "Transmission of mitochondrial DNA disorders: possibilities for the future." Lancet 368(9529):87-89.
Brown, D. T., Samuels, D. C., Michael, E. M., Turnbull, D. M. and Chinnery, P. F. (2001). "Random genetic drift determines the level of mutant mtDNA in human primary oocytes." American Journal of Human Genetics 68(2):533-536.
Brown, G. K. (1997). "Bottlenecks and beyond: mitochondrial DNA segregation in health and disease." Journal of Inherited Metabolic Disease 20(1):2-8.
Brown, M. D. (1999). "The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy." Journal of the Neurological Sciences 165(1):1-5.
Brown, M. D. and Wallace, D. C. (1994). "Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy." Clinical Neuroscience 2(3-4):138-145.
Brown, M. D. and Wallace, D. C. (1994). "Molecular basis of mitochondrial DNA disease." Journal of Bioenergetics and Biomembranes 26(3):273-289.
Brown, M. D., Allen, J. C., Van Stavern, G. P., Newman, N. J. and Wallace, D. C. (2001). "Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations." American Journal of Medical Genetics 104(4):331-338.
Brown, M. D., Hosseini, S. H., Torroni, A., Bandelt, H. J., Allen, J. C., Schurr, T. G., Scozzari, R., Cruciani, F. and Wallace, D. C. (1998). "mtDNA Haplogroup X: an ancient link between Europe/Western Asia and North America?" American Journal of Human Genetics 63(6):1852-1861.
Brown, M. D., Hosseini, S., Steiner, I., Wallace, D. C. and Korn-Lubetzki, I. (2004). "Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy." Movement Disorders 19(2):235-237.
Brown, M. D., Lott, M. T., Voljavec, A. S., Torroni, A. and Wallace, D. C. (1991). "Mitochondrial DNA cytochrome b mutations associated with Leber's hereditary optic neuropathy and evidence for deleterious interactions between mutations." American Journal of Human Genetics 49 (Suppl):973.
Brown, M. D., Shoffner, J. M., Kim, Y. L., Jun, A. S., Graham, B. H., Cabell, M. F., Gurley, D. S. and Wallace, D. C. (1996). "Mitochondrial DNA sequence analysis of four Alzheimer's and Parkingson's disease patients." American Journal of Human Genetics 61(3):283-289.
Brown, M. D., Starikovskaya, Y.B., Derbeneva, O., Hosseini, S., Allen, J.C., Mikhailovskaya, I.E., Sukernik, R.I. and Wallace, D.C. (2002). "The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup J." Human Genetics 110(2):130-138.
Brown, M. D., Sun, F. and Wallace, D. C. (1997). "Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage." American Journal of Human Genetics 60(2):381-387.
Brown, M. D., Torroni, A., Huoponen, K., Chen, Y. S., Lott, M. T. and Wallace, D. C. (1994). "Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy [letter]." American Journal of Human Genetics 55(2):410-412.
Brown, M. D., Torroni, A., Reckord, C. L. and Wallace, D. C. (1995). "Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations." Human Mutation 6(4):311-325.
Brown, M. D., Torroni, A., Shoffner, J. M. and Wallace, D. C. (1992). "Mitochondrial tRNAThr mutations and lethal infantile mitochondrial myopathy [letter]." American Journal of Human Genetics 51(2):446-447.
Brown, M. D., Voljavec, A. S., Lott, M. T., MacDonald, I. and Wallace, D. C. (1992). "Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases." FASEB Journal 6(10):2791-2799.
Brown, M. D., Voljavec, A. S., Lott, M. T., Torroni, A., Yang, C.-C. and Wallace, D. C. (1992). "Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy." Genetics 130(1):163-173.
Brown, M. D., Yang, C.-C., Trounce, I., Torroni, A., Lott, M. T. and Wallace, D. C. (1992). "A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I." American Journal of Human Genetics 51(2):378-385.
Brown, M. D., Zhadanov, S., Allen, J. C., Hosseini, S., Newman, N. J., Atamonov, V. V., Mikhailovskaya, I. E., Sukernik, R. I. and Wallace, D. C. (2001). "Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russion LHON families." Human Genetics 109(1):33-39.
Brown, R. H., Jr. (1995). "Amyotrophic lateral sclerosis: recent insights from genetics and transgenic mice." Cell 80(5):687-692.
Brown, T. A. and Clayton, D. A. (2002). "Release of replication termination controls mitochondrial DNA copy number after depletion with 2',3'-dideoxycytidine." Nucleic Acids Research 30(9):2004-2010.
Brown, T. A., Cecconi, C., Tkachuk, A. N., Bustamante, C. and Clayton, D. A. (2005). "Replication of mitochondrial DNA occurs by strand displacement with alternative light-strand origins, not via a strand-coupled mechanism." Genes and Development 19(20):2466-2476.
Brown, W. M. (1980). "Polymorphism in mitochondrial DNA of humans as revealed by restriction endonuclease analysis." Proceedings of the National Academy of Sciences of the United States of America 77:3605-3609.
Brown, W. M. and Goodman, H. M. (1979). "Quantitation of intrapopulation variation by restriction endonuclease analysis of human mitochondrial DNA." In Extrachromosomal DNA: 485-499; N.Y., Academic Press. Cummings, D. J., Borst, P., Dawid, I. B., Weissman, S. M. and Fox, C. F., Eds.
Brown, W. M., George, M. and Wilson, A. C. (1979). "Rapid evolution of animal mitochondrial DNA." Proceedings of the National Academy of Sciences of the United States of America 76:1967-1971.
Brown, W. M., Prager, E. M., Wan, A. and Wilson, A. C. (1982). "Mitochondrial DNA sequences in primates: tempo and mode of evolution." Journal of Molecular Evolution 18:225-239.
Brown, W. M., Shine, J. and Goodman, H. M. (1978). "Human mitochondrial DNA: analysis of 7S DNA from the origin of replication." Proceedings of the National Academy of Sciences of the United States of America 75(2):735-739.
Brule, H., Holmes, W. M., Keith, G., Giege, R. and Florentz, C. (1998). "Effect of a mutation in the anticodon of human mitochondrial tRNAPro on its post-transcriptional modification pattern." Nucleic Acids Research 26(2):537-543.
Brum, M., Semedo, C., Guerreiro, R. and Pinto Marques, J. (2014). "Motor neuron syndrome as a new phenotypic manifestation of mutation 9185T>C in gene mtATP6." Case Reports in Neurological Medicine 2014:701761.
Bruno, C., Kirby, D. M., Koga, Y., Garavaglia, B., Duran, G., Santorelli, F. M., Shield, L. K., Xia, W., Shanske, S., Goldstein, J. D., Iwanaga, R., Akita, Y., Carrara, F., Davis, A., Zeviani, M., Thorburn, D. R. and DiMauro, S. (1999). "The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy." Journal of Pediatrics 135(2 Pt 1):197-202.
Bruno, C., Martinuzzi, A., Tang, Y., Andreu, A. L., Pallotti, F., Bonilla, E., Shanske, S., Fu, J., Sue, C. M., Angelini, C., DiMauro, S. and Manfredi, G. (1999). "A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV." American Journal of Human Genetics 65(3):611-620.
Bruno, C., Minetti, C., Tang, Y., Magalhaes, P. J., Santorelli, F. M., Shanske, S., Bado, M., Cordone, G., Gatti, R. and DiMauro, S. (1998). "Primary adrenal insufficiency in a child with a mitochondrial DNA deletion." Journal of Inherited Metabolic Disease 21(2):155-161.
Bruno, C., Sacco, O., Santorelli, F. M., Assereto, S., Tonoli, E., Bado, M., Rossi, G. A. and Minetti, C. (2003). "Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene." Journal of Child Neurology 18(4):300-303.
Bruno, C., Santorelli, F. M., Assereto, S., Tonoli, E., Tessa, A., Traverso, M., Scapolan, S., Bado, M., Tedeschi, S. and Minetti, C. (2003). "Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene." Muscle and Nerve 28(4):508-511.
Brustovetsky, N. and Klingenberg, M. (1996). "Mitochondrial ADP/ATP carrier can be reversibly converted into a large channel by Ca2+." Biochemistry 35(26):8483-8488.
Bryc, K., Velez, C., Karafet, T., Moreno-Estrada, A., Reynolds, A., Auton, A., Hammer, M., Bustamante, C. D. and Ostrer, H. (2010). "Colloquium paper: genome-wide patterns of population structure and admixture among Hispanic/Latino populations." Proceedings of the National Academy of Sciences of the United States of America 107 Suppl 2:8954-8961.
Bu, X., Shohat, M., Jaber, L. and Rotter, J. I. (1993). "A form of sensorineural deafness is determined by a mitochondrial and an autosomal locus: evidence from pedigree segregation analysis." Genetic Epidemiology 10(1):3-15.
Bua, E., Johnson, J., Herbst, A., Delong, B., McKenzie, D., Salamat, S. and Aiken, J. M. (2006). "Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers." American Journal of Human Genetics 79(3):469-480.
Buchwald, A., Till, H., Unterberg, C., Oberschmidt, R., Figulla, H. R. and Wiegand, V. (1990). "Alterations of the mitochondrial respiratory chain in human dilated cardiomyopathy." European Heart Journal 11(6):509-516.
Buck, C. R., Jurynec, M. J., Gupta, D. K., Law, A. K., Bilger, J., Wallace, D. C. and McKeon, R. J. (2003). "Adenine nucletide translocator 1 in reactive astrocytes facilitates glutamate transport." Experimental Neurology 181(2):149-158.
Budowle, B., Wilson, M. R., DiZinno, J. A., Stauffer, C., Fasano, M. A., Holland, M. M. and Monson, K. L. (1999). "Mitochondrial DNA regions HVI and HVII population data." Forensic Science International 103(1):23-35.
Buege, J. A. and Aust, S. D. (1978). "Microsomal lipid peroxidation." Methods in Enzymology 52:302-310.
Buemi, M., Allegra, A., Rotig, A., Gubler, M. C., Aloisi, C., Corica, F., Pettinato, G., Frisina, N. and Niaudet, P. (1997). "Renal failure from mitochondrial cytopathies." Nephron 76(3):249-253.
Buess, M., Moroni, C. and Hirsch, H. H. (1997). "Direct identification of differentially expressed genes by cycle sequencing and cycle labelling using the differential display PCR primers." Nucleic Acids Research 25(11):2233-2235.
Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M. A., Uziel, G. and Zeviani, M. (2004). "Clinical and molecular findings in children with complex I deficiency." Biochimica et Biophysica Acta 1659(2-3):136-147.
Bugiardini, E., Bottani, E., Marchet, S., Poole, O. V., Beninca, C., et al. (2020). "Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations." Neurology. Genetics 6(1):e381.
Buhl, R., Jaffe, H. A., Holroyd, K. J., Wells, F. B., Mastrangeli, A., Saltini, C., Cantin, A. M. and Crystal, R. G. (1989). "Systemic glutathione deficiency in symptom-free HIV-seropositive individuals [see comments]." Lancet 2(8675):1294-1298.
Buhmann, C., Gbadamosi, J. and Heesen, C. (2002). "Visual recovery in a man with the rare combination of mtDNA 11778 LHON mutation and a MS-like disease after mitoxantrone therapy." Acta Neurologica Scandinavica 106(4):236-239.
Bulayeva, K., Jorde, L. B., Ostler, C., Watkins, S., Bulayev, O. and Harpending, H. (2003). "Genetics and population history of Caucasus populations." Human Biology 75(6):837-853.
Bullough, D. A., Ceccarelli, E. A., Roise, D. and Allison, W. S. (1989). "Inhibition of the bovine-heart mitochondrial F1-ATPase by cationic dyes and amphipathic peptides." Biochimica et Biophysica Acta 975(3):377-383.
Bunn, C. L., Wallace, D. C. and Eisenstadt, J. M. (1974). "Cytoplasmic inheritance of chlormaphenicol resistance in mouse tissue culture cells." Proceedings of the National Academy of Sciences of the United States of America 71(5):1681-1685.
Bunn, C. L., Wallace, D. C. and Eisenstadt, J. M. (1977). "Mitotic segregation of cytoplasmic determinants for chloramphenicol resistance in mammalian cells. I: Fusions with mouse cell lines." Somatic Cell Genetics 3(1):71-92.
Burgart, L. J., Zheng, J., Shu, Q., Strickler, J. G. and Shibata, D. (1995). "Somatic mitochondrial mutation in gastric cancer". American Journal of Pathology 147(4):1105-1111.
Burger, G., Forget, L., Zhu, Y., Gray, M. W. and Lang, B. F. (2003). "Unique mitochondrial genome architecture in unicellular relatives of animals." Proceedings of the National Academy of Sciences of the United States of America 100(3):892-897.
Burk, A., Douzery, E. J. P. and Springer, M. S. (2002). "The secondary structure of mammalian mitochondrial 16S rRNA molecules: refinements based on a comparative phylogenetic approach." Journal of Mammalian Evolution 9(3):225-252.
Burke, J. R., Enghild, J. J., Martin, M. E., Jou, Y. S., Myers, R. M., Roses, A. D., Vance, J. M. and Strittmatter, W. J. (1996). "Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH." Nature Medicine 2(3):347-350.
Burrage, L. C., Tang, S., Wang, J., Donti, T. R., Walkiewicz, M., Luchak, J. M., Chen, L. C., Schmitt, E. S., Niu, Z., Erana, R., Hunter, J. V., Graham, B. H., Wong, L. J. and Scaglia, F. (2014). "Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene." Molecular Genetics and Metabolism 113(3):207-212.
Bursle, C., Riney, K., Stringer, J., Moore, D., Gole, G., Kearns, L. S., Mackey, D. A. and Coman, D. (2018). "Leber hereditary optic neuropathy and longitudinally extensive transverse myelitis." JIMD Reports 42:53-60.
Butterfield, D. A., Koppal, T., Howard, B., Subramaniam, R., Hall, N., Hensley, K., Yatin, S., Allen, K., Aksenov, M., Aksenova, M. and Carney, J. (1998). "Structural and functional changes in proteins induced by free radical-mediated oxidative stress and protective action of the antioxidants N-tert-butyl-alpha-phenylnitrone and vitamin E." Annals of the New York Academy of Sciences 854:448-462.
Bykhovskaya, Y., Casas, K., Mengesha, E., Inbal, A. and Fischel-Ghodsian, N. (2004). "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)." American Journal of Human Genetics 74(6):1303-1308.
Bykhovskaya, Y., Mengesha, E., Wang, D., Yang, H., Estivill, X., Shohat, M. and Fischel-Ghodsian, N. (2004). "Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation." Molecular Genetics and Metabolism 82(1):27-32.
Bykhovskaya, Y., Mengesha, E., Wang, D., Yang, H., Estivill, X., Shohat, M. and Fischel-Ghodsian, N. (2004). "Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3." Molecular Genetics and Metabolism 83(3):199-206.
Bykhovskaya, Y., Shohat, M., Ehrenman, K., Johnson, D., Hamon, M., Cantor, R. M., Aouizerat, B., Bu, X., Rotter, J. I., Jaber, L. and Fischel-Ghodsian, N. (1998). "Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation." American Journal of Medical Genetics 77(5):421-426.
Bykhovskaya, Y., Yang, H., Taylor, K., Hang, T., Tun, R. Y. M., Estivill, X., Casano, R. A. M. S., Majamaa, K., Shohat, M. and Fischel-Ghodsian, N. (2001). "Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness." Genetics in Medicine 3(3):177-180.
Byrnes, J. J., Miller, L. G., Perkins, K., Greenblatt, D. J. and Shader, R. I. (1993). "Chronic benzodiazepine administration. XI. Concurrent administration of PK11195 attenuates lorazepam discontinuation effects." Neuropsychopharmacology 8(3):267-273.
Byun, H. M., Colicino, E., Trevisi, L., Fan, T., Christiani, D. C. and Baccarelli, A. A. (2016). "Effects of air pollution and blood mitochondrial DNA methylation on markers of heart rate variability." Journal of the American Heart Association 5(4):e003218.
Cadenas, E. and Boveris, A. (1980). "Enhancement of hydrogen peroxide formation by protophores and ionophores in antimycin-supplemented mitochondria." Biochemical Journal 188(1):31-37.
Cagianut, B., Rhyner, K., Furrier, W. and Schnebli, H. P. (1981). "Thiosulphate-sulphur transferase (rhodanese) deficiency in Leber's hereditary optic atrophy." Lancet 2(8253):981-982.
Cahill, A., Baio, D. L., Ivester, P. and Cunningham, C. C. (1996). "Differential effects of chronic ethanol consumption on hepatic mitochondrial and cytoplasmic ribosomes." Alcoholism: Clinical and Experimental Research 20(8):1362-1367.
Cai, W., Fu, Q., Zhou, X., Qu, J., Tong, Y. and Guan, M. X. (2008). "Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation." Journal of Genetics and Genomics 35(11):649-655.
Cai, X. D., Golde, T. E. and Younkin, S. G. (1993). "Release of excess amyloid beta protein from a mutant amyloid beta protein precursor." Science 259(5094):514-516.
Calabrese, C., Simone, D., Diroma, M. A., Santorsola, M., Gutta, C., Gasparre, G., Picardi, E., Pesole, G. and Attimonelli, M. (2014). "MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing." Bioinformatics 30(21):3115-3117.
Calabresi, P. A., Silvestri, G., DiMauro, S. and Griggs, R. C. (1994). "Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF." Muscle and Nerve 17(8):943-945.
Callegari-Jacques, S. M., Grattapaglia, D., Salzano, F. M., Salamoni, S. P., Crossetti, S. G., Ferreira, M. E. and Hutz, M. H. (2003). "Historical genetics: spatiotemporal analysis of the formation of the Brazilian population." American Journal of Human Biology 15(6):824-834.
Calloway, C. D., Reynolds, R. L., Herrin, G. L., Jr. and Anderson, W. W. (2000). "The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age." American Journal of Human Genetics 66(4):1384-1397.
Calvaruso, M. A., Willemsen, M. A., Rodenburg, R. J., van den Brand, M., Smeitink, J. A. and Nijtmans, L. (2011). "New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS)." Mitochondrion 11(5):778-782.
Calvo, S. E., Compton, A. G., Hershman, S. G., Lim, S. C., Lieber, D. S., Tucker, E. J., Laskowski, A., Garone, C., Liu, S., Jaffe, D. B., Christodoulou, J., Fletcher, J. M., Bruno, D. L., Goldblatt, J., Dimauro, S., Thorburn, D. R. and Mootha, V. K. (2012). "Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing." Science Translational Medicine 4(118):118ra110.
Campbell, M. C. and Tishkoff, S. A. (2010). "The evolution of human genetic and phenotypic variation in Africa." Current Biology 20(4):R166-173.
Campbell, T., Lou, X., Slone, J., Brown, J., Bromwell, M., Liu, J., Bai, R., Haude, K., Balog, A., Cui, H., Zou, W., Yang, L., Al-Beshri, A. and Huang, T. (2021). "Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy." Human Mutation 42(2):177-188.
Campos, Y., Bautista, J., Gutierrez-Rivas, E., Chinchon, D., Cabello, A., Segura, D. and Arenas, J. (1995). "Clinical heterogeneity in two pedigrees with the 3243 bp tRNALeu(UUR) mutation of mitochondrial DNA." Acta Neurologica Scandinavica 91(1):62-65.
Campos, Y., Bautista, J., Gutierrez-Rivas, E., Llabres, J., Lorenzo, G. and Arenas, J. (1994). "Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA." Journal of Inherited Metabolic Disease 17(5):634-635.
Campos, Y., Esteban, J., Cabello, A. and Arenas, J. (1994). "Genetic analysis of one family with myoclonic epilepsy and ragged-red fibers (MERRF)." Muscle and Nerve 17(10):1229-1231.
Campos, Y., Garcia, A., del Hoyo, P., Jara, P., Martin, M. A., Rubio, J. C., Berbel, A., Barbera, J. R., Ribacoba, R., Astudillo, A., Cabello, A., Ricoy, J. R. and Arenas, J. (2003). "Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes." Neuromuscular Disorders 13(5):416-420.
Campos, Y., Garcia, A., Eiris, J., Fuster, M., Rubio, J. C., Martin, M. A., del Hoyo, P., Pintos, E., Castro-Gago, M. and Arenas, J. (2001). "Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation." Journal of Inherited Metabolic Disease 24(6):685-687.
Campos, Y., Lorenzo, G., Martin, M. A., Torregrosa, A., del Hoyo, P., Rubio, J. C., Garcia, A. and Arenas, J. (2000). "A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes." Neuromuscular Disorders 10(7):493-496.
Campos, Y., Martin, M. A., Lorenzo, G., Aparicio, M., Cabello, A. and Arenas, J. (1996). "Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA." Muscle and Nerve 19(2):187-190.
Campos, Y., Martin, M. A., Rubio, J. C., Gutierrez del Olmo, M. C., Cabello, A. and Arenas, J. (1997). "Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene." Biochemical & Biophysical Research Communications 238(2):323-325.
Campos, Y., Martin, M. A., Rubio, J. C., Solana, L. G., Garcia-Benayas, C., Terradas, J. L. and Arenas, J. (1997). "Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA." Neurology 49(2):595-597.
Campuzano, V., Montermini, L., Molto, M. D., Pianese, L., Cossee, M., et al. (1996). "Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion (see comments)." Science 271(5254):1423-1427.
Cann, R. L. and Wilson, A. C. (1983). "Length mutations in human mitochondrial DNA." Genetics 104(4):699-711.
Cann, R. L., Brown, W. M. and Wilson, A. C. (1984). "Polymorphic sites and the mechanism of evolution in human mitochondrial DNA." Genetics 106:479-499.
Cann, R. L., Stoneking, M. and Wilson, A. C. (1987). "Mitochondrial DNA and human evolution." Nature 325:31-36.
Canter, J. A., Eshaghian, A., Fessel, J., Summar, M. L., Roberts, L. J., Morrow, J. D., Sligh, J. E. and Haines, J. L. (2005). "Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation." Free Radical Biology and Medicine 38(5):678-683.
Canter, J. A., Haas, D. W., Kallianpur, A. R., Ritchie, M. D., Robbins, G. K., Shafer, R. W., Clifford, D. B., Murdock, D. G. and Hulgan, T. (2008). "The mitochondrial pharmacogenomics of haplogroup T: MTND2*LHON4917G and antiretroviral therapy-associated peripheral neuropathy." Pharmacogenomics Journal 8(1):71-77.
Canter, J. A., Kallianpur, A. R., Parl, F. F. and Millikan, R. C. (2005). "Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women." Cancer Research 65(17):8028-8033.
Canter, J. A., Olson, L. M., Spencer, K., Schnetz-Boutaud, N., Anderson, B., Hauser, M. A., Schmidt, S., Postel, E. A., Agarwal, A., Pericak-Vance, M. A., Sternberg, P., Jr. and Haines, J. L. (2008). "Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration." PLoS ONE 3(5):e2091.
Cao, X. and Phillis, J. W. (1994). "alpha-Phenyl-tert-butyl-nitrone reduces cortical infarct and edema in rats subjected to focal ischemia." Brain Research 644(2):267-272.
Cao, Y., Ma, Y., Zhang, Y., Li, Y., Fang, F., Wang, S., Bu, D., Xu, Y., Pei, P., Li, L., Xiao, Y., Wu, H., Yang, Y., Zou, L. and Qi, Y. (2010). "Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies." Mitochondrion 10(4):330-334.
Capaldi, R. A. (1990). "Structure and function of cytochrome c oxidase." Annual Review of Biochemistry 59:569-596.
Caporali, L., Iommarini, L., La Morgia, C., Olivieri, A., Achilli, A., et al. (2018). "Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy." PLoS Genetics 14(2):e1007210.
Caporali, L., Maresca, A., Capristo, M., Del Dotto, V., Tagliavini, F., Valentino, M. L., La Morgia, C. and Carelli, V. (2017). "Incomplete penetrance in mitochondrial optic neuropathies." Mitochondrion 36:130-137.
Capps, G. J., Samuels, D. C. and Chinnery, P. F. (2003). "A model of the nuclear control of mitochondrial DNA replication." Journal of Theoretical Biology 221(4):565-583.
Capristo, M., Del Dotto, V., Tropeano, C. V., Fiorini, C., Caporali, L., La Morgia, C., Valentino, M. L., Montopoli, M., Carelli, V. and Maresca, A. (2022). "Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys." Molecular Medicine 28(1):90.
Capt, C., Passamonti, M. and Breton, S. (2016). "The human mitochondrial genome may code for more than 13 proteins." Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis 27(5):3098-3101.
Caramelli, D., Lalueza-Fox, C., Vernesi, C., Lari, M., Casoli, A., Mallegni, F., Chiarelli, B., Dupanloup, I., Bertranpetit, J., Barbujani, G. and Bertorelle, G. (2003). "Evidence for a genetic discontinuity between Neandertals and 24,000- year-old anatomically modern Europeans." Proceedings of the National Academy of Sciences of the United States of America 100(11):6593-6597.
Cardaioli, E., Da Pozzo, P., Cerase, A., Sicurelli, F., Malandrini, A., De Stefano, N., Stromillo, M. L., Battisti, C., Dotti, M. T. and Federico, A. (2006). "Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene." Neuromuscular Disorders 16(1):26-31.
Cardaioli, E., Da Pozzo, P., Gallus, G. N., Franceschini, R., Rufa, A., Dotti, M. T., Caporossi, A. and Federico, A. (2007). "Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption." Journal of Neurology 254(2):255-256.
Cardaioli, E., Da Pozzo, P., Gallus, G. N., Malandrini, A., Gambelli, S., Gaudiano, C., Malfatti, E., Viscomi, C., Zicari, E., Berti, G., Serni, G., Dotti, M. T. and Federico, A. (2007). "A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss". Neuromuscular Disorders 17(9-10):681-683.
Cardaioli, E., Da Pozzo, P., Malfatti, E., Gallus, G. N., Rubegni, A., Malandrini, A., Gaudiano, C., Guidi, L., Serni, G., Berti, G., Dotti, M. T. and Federico, A. (2008). "Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA." Journal of the Neurological Sciences 272(1-2):106-109.
Cardaioli, E., Da Pozzo, P., Radi, E., Dotti, M. T. and Federico, A. (2005). "A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia." Biochemical and Biophysical Research Communications 327(3):675-678.
Cardaioli, E., Dotti, M. T., Hayek, G., Zappella, M. and Federico, A. (1999). "Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835 [letter]." Journal of Submicroscopic Cytology & Pathology 31(2):301-304.
Cardaioli, E., Malfatti, E., Battisti, C., Da Pozzo, P., Rubegni, A., Gallus, G. N., Malandrini, A. and Federico, A. (2012). "Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation." Journal of the Neurological Sciences 321(1-2):92-95.
Cardaioli, E., Malfatti, E., Da Pozzo, P., Gallus, G. N., Carluccio, M. A., Rufa, A., Volpi, N., Dotti, M. T. and Federico, A. (2011). "Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene". Journal of the Neurological Sciences 303(1-2):142-145.
Cardaioli, E., Mignarri, A., Cantisani, T. A., Malandrini, A., Nesti, C., Rubegni, A., Funel, N., Federico, A., Santorelli, F. M. and Dotti, M. T. (2018). "Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene." Biochemical and Biophysical Research Communications 500(2):158-162.
Cardellach, F., Marti, M. J., Fernandez-Sola, J., Marin, C., Hoek, J. B., Tolosa, E. and Urbano-Marquez, A. (1993). "Mitochondrial respiratory chain activity in skeletal muscle from patients with Parkinson's disease [see comments, 94050596]." Neurology 43(11):2258-2262.
Cardena, M. M., Mansur, A. J., Pereira Ada, C. and Fridman, C. (2013). "A new duplication in the mitochondrially encoded tRNA proline gene in a patient with dilated cardiomyopathy". Mitochondrial DNA 24(1):46-49.
Cardena, M. M., Ribeiro-Dos-Santos, A. K., Santos, S. E., Mansur, A. J., Bernardez-Pereira, S., Santos, P. C., Pereira, A. C. and Fridman, C. (2016). "Mitochondrial and genomic ancestry are associated with etiology of heart failure in Brazilian patients." Journal of Human Hypertension 30(2):120-123.
Cardoso, S. M., Santana, I., Swerdlow, R. H. and Oliveira, C. R. (2004). "Mitochondria dysfunction of Alzheimer's disease cybrids enhances Abeta toxicity." Journal of Neurochemistry 89(6):1417-1426.
Carducci, C., Leuzzi, V., Scuderi, M., DeNegri, A. M., Gabrieli, C. B., Antonozzi, I. and Pontecorvi, A. (1991). "Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy." Human Genetics 87(6):725-727.
Carelli, V. and Bellan, M. (2008). "Myelin, mitochondria, and autoimmunity: What's the connection?" Neurology 70(13 Pt 2):1075-1076.
Carelli, V., Achilli, A., Valentino, M. L., Rengo, C., Semino, O., et al. (2006). "Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees." American Journal of Human Genetics 78(4):564-574.
Carelli, V., Barboni, P., Zacchini, A., Mancini, R., Monari, L., Cevoli, S., Liguori, R., Sensi, M., Lugaresi, E. and Montagna, P. (1998). "Leber's hereditary optic neuropathy (LHON) with 14484/ND6 mutation in a North African patient." Journal of the Neurological Sciences 160(2):183-188.
Carelli, V., Baracca, A., Barogi, S., Pallotti, F., Valentino, M. L., Montagna, P., Zeviani, M., Pini, A., Lenaz, G., Baruzzi, A. and Solaini, G. (2002). "Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation." Archives of Neurology 59(2):264-270.
Carelli, V., Carbonelli, M., de Coo, I. F., Kawasaki, A., Klopstock, T., Lagreze, W. A., La Morgia, C., Newman, N. J., Orssaud, C., Pott, J. W. R., Sadun, A. A., van Everdingen, J., Vignal-Clermont, C., Votruba, M., Yu-Wai-Man, P. and Barboni, P. (2017). "International consensus statement on the clinical and therapeutic management of Leber hereditary optic neuropathy." Journal of Neuro-ophthalmology 37(4):371-381.
Carelli, V., Franceschini, F., Venturi, S., Barboni, P., Savini, G., Barbieri, G., Pirro, E., La Morgia, C., Valentino, M. L., Zanardi, F., Violante, F. S. and Mattioli, S. (2007). "Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?" Environmental Health Perspectives 115(1):113-115.
Carelli, V., Ghelli, A., Bucchi, L., Montagna, P., De Negri, A., Leuzzi, V., Carducci, C., Lenaz, G., Lugaresi, E. and Degli Esposti, M. (1999). "Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy." Annals of Neurology 45(3):320-328.
Carelli, V., Ghelli, A., Ratta, M., Bacchilega, E., Sangiorgi, S., Mancini, R., Leuzzi, V., Cortelli, P., Montagna, P., Lugaresi, E. and Degli Esposti, M. (1997). "Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype." Neurology 48(6):1623-1632.
Carelli, V., Giordano, C. and d'Amati, G. (2003). "Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction." Trends in Genetics 19(5):257-262.
Carelli, V., La Morgia, C., Iommarini, L., Carroccia, R., Mattiazzi, M., Sangiorgi, S., Farne, S., Maresca, A., Foscarini, B., Lanzi, L., Amadori, M., Bellan, M. and Valentino, M. L. (2007). "Mitochondrial optic neuropathies: how two genomes may kill the same cell type?" Bioscience Reports 27(1-3):173-184.
Carelli, V., La Morgia, C., Valentino, M. L., Barboni, P., Ross-Cisneros, F. N. and Sadun, A. A. (2009). "Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders." Biochimica et Biophysica Acta 1787(5):518-528.
Carelli, V., La Morgia, C., Valentino, M. L., Rizzo, G., Carbonelli, M., De Negri, A. M., Sadun, F., Carta, A., Guerriero, S., Simonelli, F., Sadun, A. A., Aggarwal, D., Liguori, R., Avoni, P., Baruzzi, A., Zeviani, M., Montagna, P. and Barboni, P. (2011). "Idebenone treatment In Leber's hereditary optic neuropathy". Brain 134(9):e188.
Carelli, V., Ross-Cisneros, F. N. and Sadun, A. A. (2002). "Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies." Neurochemistry International 40(6):573-584.
Carelli, V., Ross-Cisneros, F. N. and Sadun, A. A. (2004). "Mitochondrial dysfunction as a cause of optic neuropathies." Progress in Retinal and Eye Research 23(1):53-89.
Carelli, V., Rugolo, M., Sgarbi, G., Ghelli, A., Zanna, C., Baracca, A., Lenaz, G., Napoli, E., Martinuzzi, A. and Solaini, G. (2004). "Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration." Biochimica et Biophysica Acta 1658(1-2):172-179.
Carelli, V., Vergani, L., Bernazzi, B., Zampieron, C., Bucchi, L., Valentino, M., Rengo, C., Torroni, A. and Martinuzzi, A. (2002). "Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy." Biochimica et Biophysica Acta 1588(1):7-14.
Carew, J. S., Zhou, Y., Albitar, M., Carew, J. D., Keating, M. J. and Huang, P. (2003). "Mitochondrial DNA mutations in primary leukemia cells after chemotherapy: clinical significance and therapeutic implications." Leukemia 17(8):1437-1447.
Caria, H., Matos, T., Oliveira-Soares, R., Santos, A. R., Galhardo, I., Soares-Almeida, L., Dias, O., Andrea, M., Correia, C. and Fialho, G. (2005). "A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma." Journal of the European Academy of Dermatology and Venereology : JEADV 19(4):455-458.
Carling, P. J., Cree, L. M. and Chinnery, P. F. (2011). "The implications of mitochondrial DNA copy number regulation during embryogenesis." Mitochondrion 11(5):686-692.
Carlsson, L. M., Jonsson, J., Edlund, T. and Marklund, S. L. (1995). "Mice lacking extracellular superoxide dismutase are more sensitive to hyperoxia." Proceedings of the National Academy of Sciences of the United States of America 92(14):6264-6268.
Carossa, V., Ghelli, A., Tropeano, C. V., Valentino, M. L., Iommarini, L., et al. (2014). "A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance." Human Mutation 35(8):954-958.
Carracedo, A., Bar, W., Lincoln, P., Mayr, W., Morling, N., Olaisen, B., Schneider, P., Budowle, B., Brinkmann, B., Gill, P., Holland, M., Tully, G. and Wilson, M. (2000). "DNA commission of the international society for forensic genetics: guidelines for mitochondrial DNA typing". Forensic Science International 110(2):79-85.
Carrara, F., Chinnery, P. F., Man, P. Y. W., Zeviani, M. and Tiranti, V. (2004). "Pitfalls in restriction fragment length polymorphism analysis of Leber's hereditary optic neuropathy patients." Mitochondrion 4(1):37-39.
Carreno-Gago, L., Gamez, J., Camara, Y., Alvarez de la Campa, E., Aller-Alvarez, J. S., Moncho, D., Salvado, M., Galan, A., de la Cruz, X., Pinos, T. and Garcia-Arumi, E. (2017). "Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome." Biochimica et Biophysica Acta 1863(1):182-187.
Carrero-Valenzuela, R. D., Quan, F., Lightowlers, R., Kennaway, N. G., Litt, M. and Forte, M. (1991). "Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family." Gene 102(2):229-236.
Carrieri, G., Bonafe, M., De Luca, M., Rose, G., Varcasia, O., Bruni, A., Maletta, R., Nacmias, B., Sorbi, S., Corsonello, F., Feraco, E., Andreev, K. F., Yashin, A. I., Franceschi, C. and De Benedictis, G. (2001). "Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease." Human Genetics 108(3):194-198.
Carroll, M. B. (2007). "MELAS masquerading as a systemic vasculitis." Journal of Clinical Rheumatology 13(6):334-337.
Carroll, W. M. and Mastaglia, F. L. (1979). "Leber's optic neuropathy: a clinical and visual evoked potential study of affected and asymptomatic members of a six generation family." Brain 102(3):559-580.
Carrozzo, R., Bornstein, B., Lucioli, S., Campos, Y., de la Pena, P., Petit, N., Dionisi-Vici, C., Vilarinho, L., Rizza, T., Bertini, E., Garesse, R., Santorelli, F. M. and Arenas, J. (2003). "Mutation analysis in 16 patients with mtDNA depletion." Human Mutation 21(4):453-454.
Carrozzo, R., Hirano, M., Fromenty, B., Casali, C., Santorelli, F. M., Bonilla, E., DiMauro, S., Schon, E. A. and Miranda, A. F. (1998). "Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses." Neurology 50(1):99-106.
Carrozzo, R., Piemonte, F., Tessa, A., Lucioli, S., Rizza, T., Meschini, M. C., Fattori, F. and Santorelli, F. M. (2007). "Infantile mitochondrial disorders." Bioscience Reports 27(1-3):105-112.
Carrozzo, R., Rizza, T., Lucioli, S., Pierini, R., Bertini, E. and Santorelli, F. M. (2004). "A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli." Acta Paediatrica. Supplementum 93(445):65-67.
Carrozzo, R., Rizza, T., Stringaro, A., Pierini, R., Mormone, E., Santorelli, F. M., Malorni, W. and Matarrese, P. (2004). "Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis." Journal of Neurochemistry 90(2):490-501.
Carrozzo, R., Tessa, A., Vazquez-Memije, M. E., Piemonte, F., Patrono, C., Malandrini, A., Dionisi-Vici, C., Vilarinho, L., Villanova, M., Schagger, H., Federico, A., Bertini, E. and Santorelli, F. M. (2001). "The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome." Neurology 56(5):687-690.
Carvajal-Carmona, L. G., Ophoff, R., Service, S., Hartiala, J., Molina, J., Leon, P., Ospina, J., Bedoya, G., Freimer, N. and Ruiz-Linares, A. (2003). "Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica." Human Genetics 112(5-6):534-541.
Casademont, J., Barrientos, A., Cardellach, F., Rotig, A., Grau, J. M., Montoya, J., Beltran, B., Cervantes, F., Rozman, C., Estivill, X., Urbano-Marques, A. and Nunes (1994). "Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother." Human Molecular Genetics 3(11):1945-1949.
Casademont, J., Perea, M., Lopez, S., Beato, A., Miro, O. and Cardellach, F. (2004). "Enzymatic diagnosis of oxidative phosphorylation defects on muscle biopsy: better on tissue homogenate or on a mitochondria-enriched suspension?" Medical Science Monitor 10(9):CS49-53.
Casali, C., d'Amati, G., Bernucci, P., DeBiase, L., Autore, C., Santorelli, F. M., Coviello, D. and Gallo, P. (1999). "Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid". Journal of the American College of Cardiology 33(6):1584-1589.
Casali, C., Fabrizi, G. M., Santorelli, F. M., Colazza, G., Villanova, M., Dotti, M. T., Cavallaro, T., Cardaioli, E., Battisti, C., Manneschi, L., DiGennaro, G. C., Fortini, D., Spadaro, M., Morocutti, C. and Federico, A. (1999). "Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family." Neurology 52(5):1103-1104.
Casali, C., Santorelli, F. M., D'Amati, G., Bernucci, P., DeBiase, L. and DiMauro, S. (1995). "A novel mtDNA point mutation in maternally inherited cardiomyopathy." Biochemical and Biophysical Research Communications 213(2):588-593.
Casano, R. A., Bykhovskaya, Y., Johnson, D. F., Hamon, M., Torricelli, F., Bigozzi, M. and Fischel-Ghodsian, N. (1998). "Hearing loss due to the mitochondrial A1555G mutation in Italian families." American Journal of Medical Genetics 79(5):388-391.
Casano, R. A., Johnson, D. F., Bykhovskaya, Y., Torricelli, F., Bigozzi, M. and Fischel-Ghodsian, N. (1999). "Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications." American Journal of Otolaryngology 20(3):151-156.
Casari, G., De Fusco, M., Ciarmatori, S., Zeviani, M., Mora, M., Fernandez, P., De Michele, G., Filla, A., Cocozza, S., Marconi, R., Durr, A., Fontaine, B. and Ballabio, A. (1998). "Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease." Cell 93(6):973-983.
Casas, K., Bykhovskaya, Y., Mengesha, E., Wang, D., Yang, H., Taylor, K., Inbal, A. and Fischel-Ghodsian, N. (2004). "Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33." American Journal of Medical Genetics 127A(1):44-49.
Case, J. T. and Wallace, D. C. (1981). "Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts." Somatic Cell Genetics 7(1):103-108.
Cassandrini, D., Calevo, M. G., Tessa, A., Manfredi, G., Fattori, F., Meschini, M. C., Carrozzo, R., Tonoli, E., Pedemonte, M., Minetti, C., Zara, F., Santorelli, F. M. and Bruno, C. (2006). "A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy." Biochemical and Biophysical Research Communications 342(2):387-393.
Cassard, A. M., Bouillaud, F., Mattei, M. G., Hentz, E., Raimbault, S., Thomas, M. and Ricquier, D. (1990). "Human uncoupling protein gene: structure, comparison with rat gene, and assignment to the long arm of chromosome 4." Journal of Cellular Biochemistry 43(3):255-264.
Cassarino, D. S., Swerdlow, R. H., Parks, J. K., Parker, W. D., Jr. and Bennett, J. P., Jr. (1998). "Cyclosporin A increases resting mitochondrial membrane potential in SY5Y cells and reverses the depressed mitochondrial membrane potential of Alzheimer's disease cybrids." Biochemical & Biophysical Research Communications 248(1):168-173.
Castagna, A. E., Addis, J., McInnes, R. R., Clarke, J. T., Ashby, P., Blaser, S. and Robinson, B. H. (2007). "Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA." American Journal of Medical Genetics 143A(8):808-816.
Castellana, S., Biagini, T., Petrizzelli, F., Parca, L., Panzironi, N., Caputo, V., Vescovi, A. L., Carella, M. and Mazza, T. (2020). "MitImpact 3: modeling the residue interaction network of the respiratory chain subunits." Nucleic Acids Research 49(D1):D1282–D1288.
Castellana, S., Fusilli, C., Mazzoccoli, G., Biagini, T., Capocefalo, D., Carella, M., Vescovi, A. L. and Mazza, T. (2017). "High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE." PLoS Computational Biology 13(6):e1005628.
Castri, L., Madrigal, L., Melendez-Obando, M., Villegas-Palma, R., Barrantes, R., Raventos, H., Pereira, R., Luiselli, D. and Pettener, D. (2011). "Mitochondrial polymorphisms associated with differential longevity do not impact lifetime-reproductive success." American Journal of Human Biology 23(2):225-227.
Castro, M. G., Huerta, C., Reguero, J. R., Soto, M. I., Domenech, E., Alvarez, V., Gomez-Zaera, M., Nunes, V., Gonzalez, P., Corao, A. and Coto, E. (2006). "Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy." International Journal of Cardiology 112(2):202-206.
Castro, M. G., Terrados, N., Reguero, J. R., Alvarez, V. and Coto, E. (2007). "Mitochondrial haplogroup T is negatively associated with the status of elite endurance athlete." Mitochondrion 7(5):354-357.
Catarino, C. B., Ahting, U., Gusic, M., Iuso, A., Repp, B., Peters, K., Biskup, S., von Livonius, B., Prokisch, H. and Klopstock, T. (2017). "Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA." Mitochondrion 36:15-20.
Catarino, C. B., von Livonius, B., Priglinger, C., Banik, R., Matloob, S., et al. (2020). "Real-world clinical experience with idebenone in the treatment of Leber hereditary optic neuropathy." Journal of Neuro-Ophthalmology 40(4):558-565.
Catelli, M. L., Alvarez-Iglesias, V., Gomez-Carballa, A., Mosquera-Miguel, A., Romanini, C., Borosky, A., Amigo, J., Carracedo, A., Vullo, C. and Salas, A. (2011). "The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome". BMC Genetics 12:77.
Catteruccia, M., Sauchelli, D., Della Marca, G., Primiano, G., Cuccagna, C., Bernardo, D., Leo, M., Camporeale, A., Sanna, T., Cianfoni, A. and Servidei, S. (2015). ""Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation." Journal of Neurology 262(3):701-710.
Caudron-Herger, M. and Diederichs, S. (2018). "Mitochondrial mutations in human cancer: Curation of translation." RNA Biology 15(1):62-69.
Caux, C., Favre, C., Saeland, S., Duvert, V., Durand, I., Mannoni, P. and Banchereau, J. (1991). "Potentiation of early hematopoiesis by tumor necrosis factor-alpha is followed by inhibition of granulopoietic differentiation and proliferation." Blood 78(3):635-644.
Cavelier, L., Jazin, E. E., Eriksson, I., Prince, J., Bave, U., Oreland, L. and Gyllensten, U. (1995). "Decreased cytochrome-c oxidase activity and lack of age-related accumulation of mitochondrial DNA deletions in the brains of schizophrenics." Genomics 29(1):217-224.
Cavelier, L., Johannisson, A. and Gyllensten, U. (2000). "Analysis of mtDNA copy number and composition of single mitochondrial particles using flow cytometry and PCR." Experimental Cell Research 259(1):79-85.
Cavalier-Smith, T. (1997). "Cell and genome coevolution: facultative anaerobiosis, glycosomes and kinetoplastan RNA editing." Trends in Genetics 13(1):6-9.
Cavalli-Sforza, L. L. (1998). "The DNA revolution in population genetics." Trends in Genetics 14(2):60-65.
Cavelier, L., Gyllensten, U. and Dahl, N. (1993). "Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis." Clinical Genetics 43(2):69-72.
Caviani Pease, A., Solas, D., Sullivan, E. J., Cronin, M. T., Holmes, C. P. and Fodor, S. P. A. (1994). "Light-generated oligonucleotide arrays for rapid DNA sequence analysis." Proceedings of the National Academy of Sciences of the United States of America 91(11):5022-5026.
Celie, B. M., Mariman, A., Boone, J., Delesie, L., Tobback, E., Seneca, S., De Paepe, B., Vogelaers, D., Van Coster, R. N. and Bourgois, J. G. (2018). "Near-infrared spectroscopy screening to allow detection of pathogenic mitochondrial DNA variants in individuals with unexplained abnormal fatigue: a preliminary study." Applied Spectroscopy 72(5):715-724.
Ceranic, B. and Luxon, L. M. (2004). "Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy." Journal of Neurology, Neurosurgery and Psychiatry 75(4):626-630.
Cerny, V., Salas, A., Hajek, M., Zaloudkova, M. and Brdicka, R. (2007). "A bidirectional corridor in the sahel-Sudan belt and the distinctive features of the Chad Basin populations: a history revealed by the mitochondrial DNA genome." Annals of Human Genetics 71(Pt 4):433-452.
Cervera-Carles, L., Alcolea, D., Estanga, A., Ecay-Torres, M., Izagirre, A., Clerigue, M., Garcia-Sebastian, M., Villanua, J., Escalas, C., Blesa, R., Martinez-Lage, P., Lleo, A., Fortea, J. and Clarimon, J. (2017). "Cerebrospinal fluid mitochondrial DNA in the Alzheimer's disease continuum." Neurobiology of Aging 53:192 e191-192 e194.
Cesaroni, E., Scarpelli, M., Zamponi, N., Polonara, G. and Zeviani, M. (2009). "Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy." Pediatric Neurology 41(2):131-134.
Chabi, B., Adhihetty, P. J., Ljubicic, V. and Hood, D. A. (2005). "How is mitochondrial biogenesis affected in mitochondrial disease?" Medicine and Science in Sports and Exercise 37(12):2102-2910.
Chabi, B., Mousson de Camaret, B., Duborjal, H., Issartel, J. P. and Stepien, G. (2003). "Quantification of mitochondrial DNA deletion, depletion, and overreplication: application to diagnosis." Clinical Chemistry 49(8):1309-1317.
Chada, S., Le Beau, M. M., Casey, L. and Newburger, P. E. (1990). "Isolation and chromosomal localization of the human glutathione peroxidase gene." Genomics 6(2):268-271.
Chadderton, N., Palfi, A., Millington-Ward, S., Gobbo, O., Overlack, N., Carrigan, M., O'Reilly, M., Campbell, M., Ehrhardt, C., Wolfrum, U., Humphries, P., Kenna, P. F. and Farrar, G. J. (2013). "Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy." European Journal of Human Genetics 21(1):62-68.
Chae, J. H., Lee, J. S., Kim, K. J., Hwang, Y. S., Bonilla, E., Tanji, K. and Hirano, M. (2007). "A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency." Pediatric Research 61(5, Part 1):622-624.
Chagnon, P., Gee, M., Filion, M., Robitaille, Y., Belouchi, M. and Gauvreau, D. (1999). "Phylogenetic analysis of the mitochondrial genome indicates significant differences between patients with Alzheimer disease and controls in a French-Canadian founder population." American Journal of Medical Genetics 85(1):20-30.
Chaig, M. R., Zernotti, M. E., Soria, N. W., Romero, O. F., Romero, M. F. and Gerez, N. M. (2008). "A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment." Biochemical and Biophysical Research Communications 368(3):631-636.
Chakrapani, A., Heptinstall, L. and Walter, J. (1998). "A family with Leigh syndrome caused by the rarer T8993C mutation." Journal of Inherited Metabolic Disease 21(6):685-686.
Chalkia, D., Chang, Y. C., Derbeneva, O., Lvova, M., Wang, P., Mishmar, D., Liu, X. G., Singh, L. N., Chuang, L. M. and Wallace, D. C. (2018). "Mitochondrial DNA associations with East Asian metabolic syndrome." Biochimica et Biophysica Acta 1859(9):878-892.
Chalkia, D., Singh, L. N., Leipzig, J., Lvova, M., Derbeneva, O., Lakatos, A., Hadley, D., Hakonarson, H. and Wallace, D. C. (2017). "Association between mitochondrial DNA haplogroup variation and autism spectrum disorders." JAMA Psychiatry 74(11):1161-1168.
Chalmers, R. M. and Schapira, A. H. (1999). "Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy." Biochimica et Biophysica Acta 1410(2):147-158.
Chalmers, R. M., Brockington, M., Howard, R. S., Lecky, B. R., Morgan-Hughes, J. A. and Harding, A. E. (1996). "Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features". Journal of the Neurological Sciences 143(1-2):41-45.
Chalmers, R. M., Davis, M. B., Sweeney, M. G., Wood, N. W. and Harding, A. E. (1996). "Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy." American Journal of Human Genetics 59(1):103-108.
Chalmers, R. M., Lamont, P. J., Nelson, I., Ellison, D. W., Thomas, N. H., Harding, A. E. and Hammans, S. R. (1997). "A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome." Neurology 49(2):589-592.
Chalmers, R. M., Robertson, N., Kellar-Wood, H., Compston, D. A. and Harding, A. E. (1995). "Sequence of the human homologue of a mitochondrially encoded murine transplantation antigen in patients with multiple sclerosis." Journal of Neurology 242(5):332-334.
Chamkha, I., Mkaouar-Rebai, E., Aloulou, H., Chabchoub, I., Kifagi, C., Fendri-Kriaa, N., Kammoun, T., Hachicha, M. and Fakhfakh, F. (2011). "A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss." Biochemical and Biophysical Research Communications 404(1):504-510.
Chan, C. C., Liu, V. W., Lau, E. Y., Yeung, W. S., Ng, E. H. and Ho, P. C. (2005). "Mitochondrial DNA content and 4977 bp deletion in unfertilized oocytes." Molecular Human Reproduction 11(12):843-846.
Chan, C., Mackey, D. A. and Byrne, E. (1996). "Sporadic Leber hereditary optic neuropathy in Australia and New Zealand." Australian and New Zealand Journal of Ophthalmology 24(1):7-14.
Chan, E. K., Hardie, R. A., Petersen, D. C., Beeson, K., Bornman, R. M., Smith, A. B. and Hayes, V. M. (2015). "Revised timeline and distribution of the earliest diverged human maternal lineages in southern Africa." PLoS ONE 10(3):e0121223.
Chan, J. W., Sultan, W., Karanjia, R. and Sadun, A. A. (2021). "Altering neuronal circuitry with 4-aminopyridine for visual improvement in Leber's hereditary optic neuropathy (LHON)." Mitochondrion 62:181-186.
Chan, K. C. and Lo, Y. M. (2002). "Circulating nucleic acids as a tumor marker." Histology and Histopathology 17(3):937-943.
Chance, B. and Williams, G. R. (1955). "Respiratory enzymes in oxidative phosphorylation." Journal of Biological Chemistry 217(383):438.
Chance, B., Sies, H. and Boveris, A. (1979). "Hydroperoxide metabolism in mammalian organs." Physiological Reviews 59(3):527-605.
Chandler, J. M., Cohen, G. M. and MacFarlane, M. (1998). "Different subcellular distribution of caspase-3 and caspase-7 following Fas-induced apoptosis in mouse liver." Journal of Biological Chemistry 273(18):10815-10818.
Chandrasekar, A., Kumar, S., Sreenath, J., Sarkar, B. N., Urade, B. P., et al. (2009). "Updating phylogeny of mitochondrial DNA macrohaplogroup M in India: dispersal of modern human in South Asian corridor". PLoS ONE 4(10):e7447.
Chandrasekaran, K., Hatanpaa, K., Rapoport, S. I. and Brady, D. R. (1997). "Decreased expression of nuclear and mitochondrial DNA-encoded genes of oxidative phosphorylation in association neocortex in Alzheimer disease." Brain Research. Molecular Brain Research 44(1):99-104.
Chang, B., Bronson, R. T., Hawes, N. L., Roderick, T. H., Peng, C., Hageman, G. S. and Heckenlively, J. R. (1994). "Retinal degeneration in motor neuron degeneration: a mouse model for ceroid lipofuscinosis." Investigative Ophthalmology and Visual Science 35(3):1071-1076.
Chang, B., Heckenlively, J. R., Hawes, N. L. and Roderick, T. H. (1993). "New mouse primary rentinal degeneration (rd-3)." Genomics 16(1):45-49.
Chang, C. W., Chang, C. H. and Peng, M. L. (2003). "Leber's hereditary opric neuropathy: a case report." The Kaohsiung Journal of Medical Sciences 19(10):516-521.
Chang, D. D. and Clayton, D. A. (1984). "Precise identification of individual promoter for transcription of each strand of human mitochondrial DNA." Cell 36(3):635-643.
Chang, D. D. and Clayton, D. A. (1985). "Priming of human mitochondrial DNA replication occurs at the light-strand promoter." Proceedings of the National Academy of Sciences of the United States of America 82(2):351-355.
Chang, D. D. and Clayton, D. A. (1987). "A mammalian mitochondrial RNA processing activity contains nucleus-encoded RNA." Science 235(4793):1178-1184.
Chang, D. D. and Clayton, D. A. (1987). "A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication." EMBO Journal 6(2):409-417.
Chang, D. D. and Clayton, D. A. (1989). "Mouse RNAase MRP RNA is encoded by a nuclear gene and contains a decamer sequence complementary to a conserved region of mitochondrial RNA substrate." Cell 56(1):131-139.
Chang, D. D., Hixson, J. E. and Clayton, D. A. (1986). "Minor transcription initiation events indicate that both human mitochondrial promoters function bidirectionally." Molecular and Cellular Biology 6(1):294-301.
Chang, H.-W., Chuang, L.-Y., Cheng, Y.-H., Gu, D.-L., Huang, H.-W. and Yang, C.-H. (2010). "An introduction to mitochondrial informatics." Methods in Molecular Biology (Genetic Variation: Methods and Protocols) 628:259-274.
Chang, J. C., Chang, H. S., Wu, Y. C., Cheng, W. L., Lin, T. T., Chang, H. J., Kuo, S. J., Chen, S. T. and Liu, C. S. (2019). "Mitochondrial transplantation regulates antitumour activity, chemoresistance and mitochondrial dynamics in breast cancer." Journal of Experimental and Clinical Cancer Research 38(1):30.
Chang, J. H. and Tong, L. (2012). "Mitochondrial poly(A) polymerase and polyadenylation." Biochimica et Biophysica Acta 1819(9-10):992-997.
Chang, T. S., Johns, D. R., Walker, D., de la Cruz, Z., Maumence, I. H. and Green, W. R. (1993). "Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes." Archives of Ophthalmology 111(9):1254-1262.
Chanson, J. B., Mohr, M., Tranchant, C. and Echaniz-Laguna, A. (2009). "MELAS as a cause of stroke in the elderly." Revue Neurologique 165(11):990-992.
Chapiro, E., Feldmann, D., Denoyelle, F., Sternberg, D., Jardel, C., Eliot, M. M., Bouccara, D., Weil, D., Garabedian, E. N., Couderc, R., Petit, C. and Marlin, S. (2002). "Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor." European Journal of Human Genetics 10(12):851-856.
Charlmers, R. M. and Harding, A. E. (1996). "A case-control study of Leber's hereditary optic neuropathy." Brain 119(Pt 5):1481-1486.
Chartier-Harlin, M. C., Crawford, F., Houlden, H., Warren, A., Hughes, D., Fidani, L., Goate, A., Rossor, M., Roques, P., Hardy, J. and Mullan, M. (1991). "Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene." Nature 353(6347):844-846.
Chatre, L. and Ricchetti, M. (2013). "Prevalent coordination of mitochondrial DNA transcription and initiation of replication with the cell cycle." Nucleic Acids Research 41(5):3068-3078.
Chau, E. M. C., Ma, E. S. K., Chan, A. O. O., Tsoi, T. H. and Law, W. L. (2020). "Mitochondrial cardiomyopathy due to m.3243A>G mitochondrial DNA mutation presenting in late adulthood: a case report." Hong Kong Medical Journal 26(3):240-242.
Checcarelli, N., Prelle, A., Moggio, M., Comi, G., Bresolin, N., Papadimitriou, A., Fagiolari, G., Bordoni, A. and Scarlato, G. (1994). "Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy." Journal of the Neurological Sciences 123(1-2):74-79.
Checkoway, H., Farin, F. M., Costa-Mallen, P., Kirchner, S. C. and Costa, L. G. (1998). "Genetic polymorphisms in Parkinson's disease." Neurotoxicology 19(4-5):635-643.
Chee, M., Yang, R., Hubbell, E., Berno, A., Huang, X. C., Stern, D., Winkler, J., Lockhart, D. J., Morris, M. S. and Fodor, S. P. A. (1996). "Accessing genetic information with high-density DNA arrays." Science 274(5287):610-614.
Chen, B., Sun, D., Yang, L., Zhang, C., Yang, A., Zhu, Y., Zhao, J., Chen, Y., Guan, M., Wang, X., Li, R., Tang, X., Wang, J., Tao, Z., Lu, J. and Guan, M. X. (2008). "Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees." American Journal of Medical Genetics. Part A 146A(10):1248-1258.
Chen, D. Y., Zhu, W. D., Chai, Y. C., Chen, Y., Sun, L., Yang, T. and Wu, H. (2015). "Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss." International Journal of Pediatric Otorhinolaryngology 79(10):1654-1657.
Chen, D., Zhao, Q., Xiong, J., Lou, X., Han, Q., Wei, X., Xie, J., Li, X., Zhou, H., Shen, L., Yang, Y., Fang, H. and Lyu, J. (2020). "Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency." Molecular Genetics and Genomic Medicine 8(5):e1199.
Chen, F. J., Yu, H., Lin, H., Hu, C. H., Hu, Y. G. and Lv, J. X. (2009). "[Association study on the mitochondrial genome region np16181-16193 variation with type 2 diabetes mellitus]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26(3):340-344.
Chen, F. L., Liu, Y., Song, X. Y., Hu, H. Y., Xu, H. B., Zhang, X. M., Shi, J. H., Hu, J., Shen, Y., Lu, B., Wang, X. C. and Hu, R. M. (2006). "A novel mitochondrial DNA missense mutation at G3421A in a family with maternally inherited diabetes and deafness." Mutation Research 602(1-2):26-33.
Chen, G. J. and Watson, R. R. (1991). "Modulation of tumor necrosis factor and gamma interferon production by cocaine and morphine in aging mice infected with LP-BM5, a murine retrovirus." Journal of Leukocyte Biology 50(4):349-355.
Chen, G., Wilson, R., Cumming, G., Walker, J. J., Smith, W. E. and McKillop, J. H. (1993). "Prostacyclin, thromboxane and antioxidant levels in pregnancy-induced hypertension." European Journal of Obstetrics, Gynecology, & Reproductive Biology 50(3):243-250.
Chen, H., Morris, M. A., Rossier, C., Blouin, J. L. and Antonarakis, S. E. (1995). "Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2." Genomics 28(3):470-476.
Chen, H., Sun, M., Fan, Z., Tong, M., Chen, G., Li, D., Ye, J., Yang, Y., Zhu, Y. and Zhu, J. (2018). "Mitochondrial C4375T mutation might be a molecular risk factor in a maternal Chinese hypertensive family under haplotype C." Clinical and Experimental Hypertension 40(6):518-523.
Chen, J. and Hebert, P. D. (1998). "Directed termination PCR: a one-step approach to mutation detection." Nucleic Acids Research 26(6):1546-1547.
Chen, J. D. and Denton, M. J. (1991). "X-chromosomal gene in Leber hereditary optic neuroretinopathy." American Journal of Human Genetics 49(3):692-693.
Chen, J. J., McNealy, D. J., Dalal, S. and Androphy, E. J. (1994). "Isolation, sequence analysis and characterization of a cDNA encoding human chaperonin 10." Biochimica et Biophysica Acta 1219(1):189-190.
Chen, J. N., Ho, K. Y. and Juan, K. H. (1998). "Sensorineural hearing loss in MELAS syndrome--case report." Kao-Hsiung i Hsueh Ko Hsueh Tsa Chih [Kaohsiung Journal of Medical Sciences] 14(8):519-523.
Chen, J. Z., Gokden, N., Greene, G. F., Green, B. and Kadlubar, F. F. (2003). "Simultaneous generation of multiple mitochondrial DNA mutations in human prostate tumors suggests mitochondrial hyper-mutagenesis." Carcinogenesis 24(9):1481-1487.
Chen, J. Z., Gokden, N., Greene, G. F., Mukunyadzi, P. and Kadlubar, F. F. (2002). "Extensive somatic mitochondrial mutations in primary prostate cancer using laser capture microdissection." Cancer Research 62(22):6470-6474.
Chen, J., Hattori, Y., Nakajima, K., Eizawa, T., Ehara, T., Koyama, M., Hirai, T., Fukuda, Y., Kinoshita, M., Sugiyama, A., Hayashi, J., Onaya, T., Kobayashi, T. and Tawata, M. (2006). "Mitochondrial complex I activity is significantly decreased in a patient with maternally inherited type 2 diabetes mellitus and hypertrophic cardiomyopathy associated with mitochondrial DNA C3310T mutation: a cybrid study." Diabetes Research and Clinical Practice 74(2):148-153.
Chen, J., Yang, L., Yang, A., Zhu, Y., Zhao, J., et al. (2007). "Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees." Gene 401(1-2):4-11.
Chen, L. H., Huang, C. Y., Osio, Y., Fitzpatrick, E. A. and Cohen, D. A. (1993). "Effects of chronic alcohol feeding and murine AIDS virus infection on liver antioxidant defense systems in mice." Alcoholism: Clinical and Experimental Research 17(5):1022-1028.
Chen, J., Yuan, H., Lu, J., Liu, X., Wang, G., et al. (2008). "Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss." Mitochondrion 8(4):285-292.
Chen, L. H., Xi, S. and Cohen, D. A. (1996). "Liver endogenous antioxidant defenses in mice fed AIN-76A diet and infected with murine AIDS." Chemico-Biological Interactions 99(1-3):17-28.
Chen, R. S., Huang, C. C., Chu, N. S., Chu, C. C., Shih, K. D., Pang, C. Y. and Wei, Y. H. (1996). "Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome." Muscle and Nerve 19(4):519-521.
Chen, R. S., Huang, C. C., Lee, C. C., Wai, Y. Y., Hsi, M. S., Pang, C. Y. and Wei, Y. H. (1993). "Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies." Acta Neurologica Scandinavica 87:494-498.
Chen, S. and Guillory, R. J. (1981). "Studies on the interaction of arylazido-beta-alanyl NAD+ with the mitochondrial NADH dehydrogenase." Journal of Biological Chemistry 256:8318-8323.
Chen, S. S., Chang, L. S., Chen, H. W. and Wei, Y. H. (2002). "Polymorphisms of glutathione S-transferase M1 and male infertility in Taiwanese patients with varicocele." Human Reproduction 17(3):718-725.
Chen, S. T., Chang, C. D., Huebner, K., Ku, D. H., McFarland, M., DeRiel, J. K., Baserga, R. and Wurzel, J. (1990). "A human ADP/ATP translocase gene has seven pseudogenes and localizes to chromosome X." Somatic Cell and Molecular Genetics 16(2):143-149.
Chen, T. J., Boles, R. G. and Wong, L. J. (1999). "Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis [see comments]." Clinical Chemistry 45(8 Pt 1):1162-1167.
Chen, T. J., Boles, R. G. and Wong, L. J. (1999). "Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis [see comments]." Clinical Chemistry 45(8 Pt 1):1162-1167.
Chen, W. T., Lin, Y. S., Wang, Y. F. and Fuh, J. L. (2019). "Adult onset MELAS syndrome presenting as a mimic of herpes simplex encephalitis." Acta Neurologica Taiwanica 28(2):46-51.
Chen, X. J. (2002). "Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia." Human Molecular Genetics 11(16):1835-1843.
Chen, X., Bonilla, E., Sciacco, M. and Schon, E. A. (1995). "Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients." Biochimica et Biophysica Acta 1271(1):229-233.
Chen, X., Prosser, R., Simonetti, S., Sadlock, J., Jagiello, G. and Schon, E. A. (1995). "Rearranged mitochondrial genomes are present in human oocytes." American Journal of Human Genetics 57(2):239-247.
Chen, Y. F., Chen, W. J., Lin, X. Z., Zhang, Q. J., Cai, J. P., Liou, C. W. and Wang, N. (2015). "Mitochondrial DNA haplogroups and the Risk of sporadic Parkinson's Disease in Han Chinese." Chinese Medical Journal 128(13):1748-1754.
Chen, Y. N., Liou, C. W., Huang, C. C., Lin, T. K. and Wei, Y. H. (2004). "Maternally inherited diabetes and deafness (MIDD) syndrome: a clinical and molecular genetic study of a Taiwanese family." Chang Gung Medical Journal 27(1):66-73.
Chen, Y. S., Olckers, A., Schurr, T. G., Kogelnik, A. M., Huoponen, K. and Wallace, D. C. (2000). "mtDNA variation in the South African Kung and Khwe and their genetic relationships to other African populations." American Journal of Human Genetics 66(4):1362-1383.
Chen, Y. S., Torroni, A., Excoffier, L., Santachiara-Benerecetti, A. S. and Wallace, D. C. (1995). "Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups." American Journal of Human Genetics 57(1):133-149.
Chen, Y., Liao, W. X., Roy, A. C., Loganath, A. and Ng, S. C. (2000). "Mitochondrial gene mutations in gestational diabetes mellitus." Diabetes Research and Clinical Practice 48(1):29-35.
Cheney, K. E., Liu, R. K., Smith, G. S., Leung, R. E., Mickey, M. R. and Walford, R. L. (1980). "Survival and disease patterns in C57BL/6J mice subjected to undernutrition." Experimental Gerontology 15(4):237-258.
Cheng, K. C., Cahill, D. S., Kasai, H., Nishimura, S. and Loeb, L. A. (1992). "8-Hydroxyguanine, an abundant form of oxidative DNA damage, causes G----T and A----C substitutions." Journal of Biological Chemistry 267(1):166-172.
Cheng, L., Fu, J., Tsukamoto, A. and Hawley, R. G. (1996). "Use of green fluorescent protein variants to monitor gene transfer and expression in mammalian cells [see comments]." Nature Biotechnology 14(5):606-609.
Cheng, S., Higuchi, R. and Stoneking, M. (1994). "Complete mitochondrial genome amplification." Nature Genetics 7(3):350-351.
Cheong, H. I., Chae, J. H., Kim, J. S., Park, H. W., Ha, I. S., Hwang, Y. S., Lee, H. S. and Choi, Y. (1999). "Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation." Pediatric Nephrology 13(6):477-480.
Cheshier, J. E., Ardestani-Kaboudanian, S., Liang, B., Araghiniknam, M., Chung, S., Lane, L., Castro, A. and Watson, R. R. (1996). "Immunomodulation by pycnogenol in retrovirus-infected or ethanol-fed mice." Life Sciences 58(5):87-96.
Chichagova, V., Hallam, D., Collin, J., Buskin, A., Saretzki, G., Armstrong, L., Yu-Wai-Man, P., Lako, M. and Steel, D. H. (2017). "Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A > G mitochondrial DNA mutation." Scientific Reports 7(1):12320.
Childs, A. M., Hutchin, T., Pysden, K., Highet, L., Bamford, J., Livingston, J. and Crow, Y. J. (2007). "Variable phenotype including Leigh Syndrome with a 9185T>C mutation in the mtATP6 gene." Neuropediatrics 38(6):313-316.
Chin, R. M., Panavas, T., Brown, J. M. and Johnson, K. K. (2018). "Patient-derived lymphoblastoid cell lines harboring mitochondrial DNA mutations as tool for small molecule drug discovery." BMC Research Notes 11(1):205.
Chinault, A. C., Shaw, C. A., Brundage, E. K., Tang, L. Y. and Wong, L. J. (2009). "Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes." Genetics in Medicine 11(7):518-526.
Ching, E. and Attardi, G. (1982). "High-resolution electrophoretic fractionation and partial characterization of the mitochondrial translation products from HeLa cells." Biochemistry 21(13):3188-3195.
Chinnery, P. F. (2002). "Inheritance of mitochondrial disorders." Mitochondrion 2(1-2):149-155.
Chinnery, P. F. (2003). "Searching for nuclear-mitochondrial genes." Trends in Genetics 19(2):60-62.
Chinnery, P. F. (2003). "Mitochondrial disorders come full circle." Neurology 61(7):878-880.
Chinnery, P. F. (2004). "New approaches to the treatment of mitochondrial disorders." Reproductive Biomedicine Online 8(1):16-23.
Chinnery, P. F. (2004). "New approaches to the treatment of mitochondrial disorders." Reproductive Biomedicine Online 8(1):16-23.
Chinnery, P. F. and Gomez-Duran, A. (2018). "Oldies but goldies mtDNA population variants and neurodegenerative diseases." Frontiers in Neuroscience 12:682.
Chinnery, P. F. and Griffiths, P. G. (2005). "Optic mitochondriopathies." Neurology 64(6):940-941.
Chinnery, P. F. and Hudson, G. (2013). "Mitochondrial genetics." British Medical Bulletin 106:135-159.
Chinnery, P. F. and Schon, E. A. (2003). "Mitochondria." Journal of Neurology, Neurosurgery and Psychiatry 74(9):1188-1199.
Chinnery, P. F. and Turnbull, D. M. (1997). "Mitochondrial medicine [see comments]." Quarterly Journal of Medicine 90(11):657-667.
Chinnery, P. F. and Turnbull, D. M. (1998). "Vomiting, anorexia, and mitochondrial DNA disease." Lancet 351(9100):448.
Chinnery, P. F. and Turnbull, D. M. (1999). "Mitochondrial DNA and disease." Lancet 354(Suppl 1):SI17-21.
Chinnery, P. F. and Turnbull, D. M. (2001). "Epidemiology and treatment of mitochondrial disorders." American Journal of Medical Genetics 106(1):94-101.
Chinnery, P. F. and Vissing, J. (2006). "Treating MNGIE: Is reducing blood nucleosides the first cure for a mitochondrial disorder?" Neurology 67(8):1330-1332.
Chinnery, P. F., Andrews, R. M., Turnbull, D. M. and Howell, N. N. (2001). "Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?" American Journal of Medical Genetics 98(3):235-243.
Chinnery, P. F., Brown, D. T., Andrews, R. M., Singh-Kler, R., Riordan-Eva, P., Lindley, J., Applegarth, D. A., Turnbull, D. M. and Howell, N. (2001). "The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy." Brain 124(Pt 1):209-218.
Chinnery, P. F., DiMauro, S., Shanske, S., Schon, E. A., Zeviani, M., Mariotti, C., Carrara, F., Lombes, A., Laforet, P., Ogier, H., Jaksch, M., Lochmuller, H., Horvath, R., Deschauer, M., Thorburn, D. R., Bindoff, L. A., Poulton, J., Taylor, R. W., Matthews, J. N. and Turnbull, D. M. (2004). "Risk of developing a mitochondrial DNA deletion disorder." Lancet 364(9434):592-596.
Chinnery, P. F., Elliott, C., Green, G. R., Rees, A., Coulthard, A., Turnbull, D. M. and Griffiths, T. D. (2000). "The spectrum of hearing loss due to mitochondrial DNA defects." Brain 123 ( Pt 1):82-92.
Chinnery, P. F., Elliott, H. R., Hudson, G., Samuels, D. C. and Relton, C. L. (2012). "Epigenetics, epidemiology and mitochondrial DNA diseases". International Journal of Epidemiology 41(1):177-187.
Chinnery, P. F., Elliott, H. R., Patel, S., Lambert, C., Keers, S. M., Durham, S. E., McCarthy, M. I., Hitman, G. A., Hattersley, A. T. and Walker, M. (2005). "Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes." Lancet 366(9497):1650-1651.
Chinnery, P. F., Howel, D., Turnbull, D. M. and Johnson, M. A. (2003). "Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres." Journal of the Neurological Sciences 211(1-2):63-66.
Chinnery, P. F., Howell, N., Andrews, R. M. and Turnbull, D. M. (1999). "Clinical mitochondrial genetics." Journal of Medical Genetics 36(6):425-436.
Chinnery, P. F., Howell, N., Andrews, R. M. and Turnbull, D. M. (1999). "Mitochondrial DNA analysis: polymorphisms and pathogenicity." Journal of Medical Genetics 36(7):505-510.
Chinnery, P. F., Howell, N., Lightowlers, R. N. and Turnbull, D. M. (1997). "Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes." Brain 120(Pt 10):1713-1721.
Chinnery, P. F., Howell, N., Lightowlers, R. N. and Turnbull, D. M. (1998). "MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring." Brain 121(Pt 10):1889-1894.
Chinnery, P. F., Howell, N., Lightowlers, R. N. and Turnbull, D. M. (1998). "Genetic counseling and prenatal diagnosis for mtDNA disease [letter]." American Journal of Human Genetics 63(6):1908-1911.
Chinnery, P. F., Johnson, M. A., Taylor, R. W., Durward, W. F. and Turnbull, D. M. (1997). "A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia." Neurology 49(4):1166-1168.
Chinnery, P. F., Johnson, M. A., Taylor, R. W., Lightowlers, R. N. and Turnbull, D. M. (1997). "A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis." Annals of Neurology 41(3):408-410.
Chinnery, P. F., Johnson, M. A., Wardell, T. M., Singh-Kler, R., Hayes, C., Brown, D. T., Taylor, R. W., Bindoff, L. A. and Turnbull, D. M. (2000). "The epidemiology of pathogenic mitochondrial DNA mutations." Annals of Neurology 48(2):188-193.
Chinnery, P. F., Mowbray, C., Elliot, H., Elson, J. L., Nixon, H., Hartley, J. and Shaw, P. J. (2007). "Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis." Neurogenetics 8(1):65-67.
Chinnery, P. F., Mowbray, C., Patel, S. K., Elson, J. L., Sampson, M., Hitman, G. A., McCarthy, M. I., Hattersley, A. T. and Walker, M. (2007). "Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls." Journal of Medical Genetics 44(6):e80.
Chinnery, P. F., Samuels, D. C., Elson, J. and Turnbull, D. M. (2002). "Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?" Lancet 360(9342):1323-1325.
Chinnery, P. F., Taylor, D. J., Brown, D. T., Manners, D., Styles, P. and Lodi, R. (2000). "Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo." Annals of Neurology 47(3):381-384.
Chinnery, P. F., Taylor, G. A., Howell, N., Andrews, R. M., Morris, C. M., Taylor, R. W., McKeith, I. G., Perry, R. H., Edwardson, J. A. and Turnbull, D. M. (2000). "Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies." Neurology 55(2):302-304.
Chinnery, P. F., Taylor, G. A., Howell, N., Brown, D. T., Parsons, T. J. and Turnbull, D. M. (2001). "Point mutations of the mtDNA control region in normal and neurodegenerative human brains." American Journal of Human Genetics 68(2):529-532.
Chinnery, P. F., Taylor, R. W., Diekert, K., Lill, R., Turnbull, D. M. and Lightowlers, R. N. (1999). "Peptide nucleic acid delivery to human mitochondria." Gene Therapy 6(12):1919-1928.
Chinnery, P. F., Thorburn, D. R., Samuels, D. C., White, S. L., Dahl, H. M., Turnbull, D. M., Lightowlers, R. N. and Howell, N. (2000). "The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?" Trends in Genetics 16(11):500-505.
Chinnery, P. F., Turnbull, D. M., Howell, N. and Andrews, R. M. (1998). "Mitochondrial DNA mutations and pathogenicity." Journal of Medical Genetics 35(8):701-702.
Chinnery, P. F., Turnbull, D. M., Walls, T. J. and Reading, P. J. (1997)."Recurrent strokes in a 34-year-old man [see comments]." Lancet 350(9077):560.
Chinnery, P., Majamaa, K., Turnbull, D. and Thorburn, D. (2006). "Treatment for mitochondrial disorders." Cochrane Database of Systematic Reviews (Online) (1):CD004426.
Chiorini, J. A., Wendtner, C. M., Urcelay, E., Safer, B., Hallek, M. and Kotin, R. M. (1995). "High-efficiency transfer of the T cell co-stimulatory molecule B7-2 to lymphoid cells using high-titer recombinant adeno-associated virus vectors." Human Gene Therapy 6(12):1531-1541.
Chiu, P. M., Liu, V. W., Ngan, H. Y., Khoo, U. S. and Cheung, A. N. (2003). "Detection of mitochondrial DNA mutations in gestational trophoblastic disease." Human Mutation 22(2):177.
Chiu, R. W., Chan, L. Y., Lam, N. Y., Tsui, N. B., Ng, E. K., Rainer, T. H. and Lo, Y. M. (2003). "Quantitative analysis of circulating mitochondrial DNA in plasma." Clinical Chemistry 49(5):719-726.
Chol, M., Lebon, S., Benit, P., Chretien, D., de Lonlay, P., Goldenberg, A., Odent, S., Hertz-Pannier, L., Vincent-Delorme, C., Cormier-Daire, V., Rustin, P., Rotig, A. and Munnich, A. (2003). "The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency." Journal of Human Genetics 40(3):188-191.
Choi, B. O., Hwang, J. H., Kim, J., Cho, E. M., Cho, S. Y., Hwang, S. J., Lee, H. W., Kim, S. J. and Chung, K. W. (2008). "A MELAS syndrome family harboring two mutations in mitochondrial genome." Experimental and Molecular Medicine 40(3):354-360.
Chol, M., Lebon, S., Benit, P., Chretien, D., de Lonlay, P., Goldenberg, A., Odent, S., Hertz-Pannier, L., Vincent-Delorme, C., Cormier-Daire, V., Rustin, P., Rotig, A. and Munnich, A. (2003). "The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency." Journal of Human Genetics 40(3):188-191.
Chomyn, A. (1996). "In vivo labeling and analysis of human mitochondrial translation products." Methods in Enzymology 264:197-211.
Chomyn, A. (1998). "The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics." American Journal of Human Genetics 62(4):745-751.
Chomyn, A. and Attardi, G. (2003). "MtDNA mutations in aging and apoptosis." Biochemical and Biophysical Research Communications 304(3):519-529.
Chomyn, A., Cleeter, W. J., Ragan, C. I., Riley, M., Doolittle, R. F. and Attardi, G. (1986). "URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit." Science 234(4776):614-618.
Chomyn, A., Enriquez, J. A., Micol, V., Fernandez-Silva, P. and Attardi, G. (2000). "The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes." Journal of Biological Chemistry 275(25):19198-19209.
Chomyn, A., Lai, S. T., Shakeley, R., Bresolin, N., Scarlato, G. and Attardi, G. (1994). "Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers." American Journal of Human Genetics 54(6):966-974.
Chomyn, A., Mariottini, P., Cleeter, W. J., Ragan, C. I., Matsuno-Yagi, A., Hatefi, Y., Doolittle, R. F. and Attardi, G. (1985). "Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase." Nature 314(6012):592-597.
Chomyn, A., Mariottini, P., Gonzalez-Cadavid, N., Attardi, G., Strong, D. D., Trovato, D., Riley, M. and Doolittle, R. F. (1983). "Identification of the polypeptides encoded in the ATPase 6 gene and in the unassigned reading frames 1 and 3 of human mtDNA." Proceedings of the National Academy of Sciences of the United States of America 80(18):5535-5539.
Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D., Lai, S. T., Nonaka, I., Angelini, C. and Attardi, G. (1992). "MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts." Proceedings of the National Academy of Sciences of the United States of America 89(10):4221-4225.
Chomyn, A., Meola, G., Bresolin, N., Lai, S. T., Scarlato, G. and Attardi, G. (1991). "In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria." Molecular and Cellular BIology 11(4):2236-2244.
Chou, Y. J., Ou, C. Y., Hsu, T. Y., Liou, C. W., Lee, C. F., Tso, D. J. and Wei, Y. H. (2004). "Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome." Prenatal Diagnosis 24(5):367-370.
Chow, W., Ragan, I. and Robinson, B. H. (1991). "Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase." European Journal of Biochemistry 201(3):547-550.
Chowers, I., Lerman-Sagie, T., Elpeleg, O. N., Shaag, A. and Merin, S. (1999). "Cone and rod dysfunction in the NARP syndrome." British Journal of Ophthalmology 83(2):190-193.
Chretien, D. and Rustin, P. (2003). "Mitochondrial oxidative phosphorylation: pitfalls and tips in measuring and interpreting enzyme activities." Journal of Inherited Metabolic Disease 26(2-3):189-198.
Christianson, T. W. and Clayton, D. A. (1986). "In vitro transcription of human mitochondrial DNA: accurate termination requires a region of DNA sequence that can function bidirectionally." Proceedings of the National Academy of Sciences of the United States of America 83(17):6277-6281.
Christianson, T. W. and Clayton, D. A. (1988). "A tridecamer DNA sequence supports human mitochondrial RNA 3'-end formation in vitro." Molecular and Cellular Biology 8(10):4502-4509.
Chrzanowska-Lightowlers, Z. M., Temperley, R. J., Smith, P. M., Seneca, S. H. and Lightowlers, R. N. (2004). "Functional polypeptides can be synthesized from human mitochondrial transcripts lacking termination codons." Biochemical Journal 377(Pt 3):725-731.
Chrzanowska-Lightowlers, Z. M. and Lightowlers, R. N. (2015). "Response to "Ribosome Rescue and Translation Termination at Non-standard Stop Codons by ICT1 in Mammalian Mitochondria"." PLoS Genetics 11(6):e1005227.
Chu, C. C., Huang, C. C., Fang, W., Chu, N. S., Pang, C. Y. and Wei, Y. H. (1997). "Peripheral neuropathy in mitochondrial encephalomyopathies." European Neurology 37(2):110-115.
Chu, E. H., Sun, N. C. and Chang, C. C. (1972). "Induction of auxotrophic mutations by treatment of Chinese hamster cells with 5-bromodeoxyuridine and black light." Proceedings of the National Academy of Sciences of the United States of America 69(11):3459-3463.
Chu, F. F. (1994). "The human glutathione peroxidase genes GPX2, GPX3, and GPX4 map to chromosomes 14, 5, and 19, respectively." Cytogenetics and Cell Genetics 66(2):96-98.
Chu, F. F., Doroshow, J. H. and Esworthy, R. S. (1993). "Expression, characterization, and tissue distribution of a new cellular selenium-dependent glutathione peroxidase, GSHPx-GI." Journal of Biological Chemistry 268(4):2571-2576.
Chu, F. F., Rohan de Silva, H. A., Esworthy, R. S., Boteva, K. K., Walters, C. E., Roses, A., Rao, P. N. and Pettenati, M. J. (1996). "Polymorphism and chromosomal localization of the GI-form of human glutathione peroxidase (GPX2) on 14q24.1 by in situ hybridization." Genomics 32(2):272-276.
Chu, S. Y., Chiang, S. C., Chien, Y. H. and Hwu, W. L. (2002). "Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan." Acta Paediatrica Taiwanica 43(6):330-333.
Chuenkongkaew, W., Chinkulkitnivat, B., Lertrit, P., Chirapapaisan, N., Kaewsutthi, S., Suktitipat, B. and Mitrpant, C. (2022). "Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber's hereditary optic neuropathy: A case report." World Journal of Clinical Cases 10(20):6944-6953; .
Chuenkongkaew, W. L., Lertrit, P., Limwongse, C., Nilanont, Y., Boonyapisit, K., Sangruchi, T., Chirapapaisan, N. and Suphavilai, R. (2005). "An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy." European Journal of Neurology 12(5):388-391.
Chuenkongkaew, W. L., Lertrit, P., Poonyathalang, A., Sura, T., Ruangvaravate, N., Atchaneeyasakul, L. and Suphavilai, R. (2001). "Leber's hereditary optic neuropathy in Thailand." Japanese Journal of Ophthalmology 45(6):665-668.
Chuenkongkaew, W. L., Suphavilai, R., Vaeusorn, L., Phasukkijwatana, N., Lertrit, P. and Suktitipat, B. (2005). "Proportion of 11778 mutant mitochondrial DNA and clinical expression in a Thai population with Leber hereditary optic neuropathy." Journal of Neuro-ophthalmology 25(3):173-175.
Chuenkongkaew, W., Lertrit, P. and Suphavilai, R. (2004). "Case report: A Thai patient with Leber's hereditary optic neuropathy linked to mitochondrial DNA 14484 mutation." Southeast Asian J Trop Med Public Health 35(1):167-168.
Chun, K., Mackay, N., Willard, H. F. and Robinson, B. H. (1990). "Isolation, characterization and chromosomal localization of cDNA clones for the E1 beta subunit of the pyruvate dehydrogenase complex." European Journal of Biochemistry 194(2):587-592.
Chung, A. B., Stepien, G., Haraguchi, Y., Li, K. and Wallace, D. C. (1992). "Transcriptional control of nuclear genes for the mitochondrial muscle ADP/ATP translocator and the ATP synthase beta subunit. Multiple factors interact with the OXBOX/REBOX promoter sequences." Journal of Biological Chemistry 267(29):21154-21161.
Chung, C. Y., Singh, K., Kotiadis, V. N., Valdebenito, G. E., Ahn, J. H., Topley, E., Tan, J., Andrews, W. D., Bilanges, B., Pitceathly, R. D. S., Szabadkai, G., Yuneva, M. and Duchen, M. R. (2021). "Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation." Nature Communications 12(1):6409.
Chung, M. H., Kasai, H., Nishimura, S. and Yu, B. P. (1992). "Protection of DNA damage by dietary restriction." Free Radic Biol Med 12(6):523-525.
Chung, U., Lee, H. Y., Yoo, J. E., Park, M. J. and Shin, K. J. (2005). "Mitochondrial DNA CA dinucleotide repeats in Koreans: the presence of length heteroplasmy". International Journal of Legal Medicine 119(1):50-53.
Church, S. L. (1990). "Manganese superoxide dismutase: nucleotide and deduced amino acid sequence of a cDNA encoding a new human transcript [published erratum appears in Biochim Biophys Acta 1993 Jan 23;1171(3):341]." Biochimica et Biophysica Acta 1087(2):250-252.
Church, S. L., Grant, J. W., Meese, E. U. and Trent, J. M. (1992). "Sublocalization of the gene encoding manganese superoxide dismutase (MnSOD/SOD2) to 6q25 by fluorescence in situ hybridization and somatic cell hybrid mapping." Genomics 14(3):823-825.
Ciafaloni, E., Ricci, E., Servidei, S., Shanske, S., Silvestri, G., Manfredi, G., Schon, E. A. and DiMauro, S. (1991). "Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome." Neurology 41(10):1663-1665.
Ciafaloni, E., Ricci, E., Shanske, S., Moraes, C. T., Silvestri, G., Hirano, M., Simonetti, S., Angelini, C., Donati, M. A., Garcia, C., Martinuzzi, A., Moxewich, R., Servidei, S., Zammarchi, E., Bonilla, E., Rowland, L. P., Schon, E. A. and DiMauro, S. (1992). "MELAS: clinical features, biochemistry, and molecular genetics." Annals of Neurology 31(4):391-398.
Ciafaloni, E., Santorelli, F. M., Shanske, S., Deonna, T., Roulet, E., Janzer, C., Pescia, G. and DiMauro, S. (1993). "Maternally inherited Leigh syndrome." Journal of Pediatrics 122(3):419-422.
Ciafaloni, E., Shanske, S., Apostolski, S., Griggs, R. L., Bird, T. D., Sumi, M. and DiMauro, S. (1991). "Multiple deletions of mitochondrial DNA." Neurology 41(Supplement 1):207.
Cihlar, J. C., Strobl, C., Lagace, R., Muenzler, M., Parson, W. and Budowle, B. (2020). "Distinguishing mitochondrial DNA and NUMT sequences amplified with the precision ID mtDNA whole genome panel." Mitochondrion 55:122-133.
Citron, M., Oltersdorf, T., Haass, C., McConlogue, L., Hung, A. Y., Seubert, P., Vigo-Pelfrey, C., Lieberburg, I. and Selkoe, D. J. (1992). "Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production." Nature 360(6405):672-674.
Civin, C. I., Strauss, L. C., Brovall, C., Fackler, M. J., Schwartz, J. F. and Shaper, J. H. (1984). "Antigenic analysis of hematopoiesis. III. A hematopoietic progenitor cell surface antigen defined by a monoclonal antibody raised against KG-1a cells." Journal of Immunology 133(1):157-165.
Cizkova, A., Stranecky, V., Ivanek, R., Hartmannova, H., Noskova, L., Piherova, L., Tesarova, M., Hansikova, H., Honzik, T., Zeman, J., Divina, P., Potocka, A., Paul, J., Sperl, W., Mayr, J. A., Seneca, S., Houstek, J. and Kmoch, S. (2008). "Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency." BMC Genomics 9:38.
Cizkova, A., Stranecky, V., Mayr, J. A., Tesarova, M., Havlickova, V., et al. (2008). "TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy." Nature Genetics 40(11):1288-1290.
Clark, G. A. (1997). "Neandertal genetics [letter]." Science 277(5329):1024-1025.
Clark, K. M., Bindoff, L. A., Lightowlers, R. N., Andrews, R. M., Griffiths, P. G., Johnson, M. A., Brierley, E. J. and Turnbull, D. M. (1997). "Reversal of a mitochondrial DNA defect in human skeletal muscle [letter]." Nature Genetics 16(3):222-224.
Clark, K. M., Taylor, R. W., Johnson, M. A., Chinnery, P. F., Chrzanowska-Lightowlers, Z. M., Andrews, R. M., Nelson, I. P., Wood, N. W., Lamont, P. J., Hanna, M. G., Lightowlers, R. N. and Turnbull, D. M. (1999). "An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy." American Journal of Human Genetics 64(5):1330-1339.
Clark, K. M., Watt, D. J., Lightowlers, R. N., Johnson, M. A., Relvas, J. B., Taanman, J. W. and Turnbull, D. M. (1998). "SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects." Journal of Clinical Investigation 102(12):2090-2095.
Clark, M. and Post, R. M. (1990). "Lidocaine binds with high affinity to peripheral-type benzodiazepine receptors." European Journal of Pharmacology 179(3):473-475.
Clarke, G. D. and Ryan, P. J. (1980). "Tranquillizers can block mitogenesis in 3T3 cells and induce differentiation in Friend cells." Nature 287(5778):160-161.
Clarkson, G. H., Neagle, J. and Lindsay, J. G. (1991). "Topography of succinate dehydrogenase in the mitochondrial inner membrane. A study using limited proteolysis and immunoblotting." Biochemical Journal 273(Pt 3):719-724.
Claycamp, H. G. (1992). "Phenol sensitization of DNA to subsequent oxidative damage in 8-hydroxyguanine assays." Carcinogenesis 13(7):1289-1292.
Clayton, D. A. (1982). "Replication of animal mitochondrial DNA." Cell 28(4):693-705.
Clayton, D. A. (1984). "Transcription of the mammalian mitochondrial genome." Annual Review of Biochemistry 53:573-594.
Clayton, D. A. (1994). "A nuclear function for RNase MRP." Proceedings of the National Academy of Sciences of the United States of America 91(11):4615-4617.
Clayton, D. A. (1998). "Nuclear-mitochondrial intergenomic communication." Biofactors 7(3):203-205.
Clayton, D. A. (2003). "Mitochondrial DNA replication: what we know." IUBMB Life 55(4-5):213-217.
Clayton, D. A., Doda, J. N. and Friedberg, E. C. (1974). "The absence of a pyrimidine dimer repair mechanism in mammalian mitochondria." Proceedings of the National Academy of Sciences of the United States of America 71(7):2777-2781.
Cleary, M. L., Smith, S. D. and Sklar, J. (1986). "Cloning and structural analysis of cDNAs for bcl-2 and a hybrid bcl- 2/immunoglobulin transcript resulting from the t(14;18) translocation." Cell 47(1):19-28.
Cleaver, J., Morrison, H., Reynolds, G., James, R., Palace, J. and Chohan, G. (2021). "Late-onset Leber's hereditary optic neuropathy presenting with longitudinally extensive myelitis harbouring the m.14484T>C mutation: Extending the genotype-phenotype spectrum." Multiple Sclerosis and Related Disorders 48:102688.
Cleeter, M. W., Cooper, J. M. and Schapira, A. H. (1992). "Irreversible inhibition of mitochondrial complex I by 1-methyl-4-phenylpyridinium: evidence for free radical involvement." Journal of Neurochemistry 58(2):786-789.
Clements, A., Bursac, D., Gatsos, X., Perry, A. J., Civciristov, S., Celik, N., Likic, V. A., Poggio, S., Jacobs-Wagner, C., Strugnell, R. A. and Lithgow, T. (2009). "The reducible complexity of a mitochondrial molecular machine." Proceedings of the National Academy of Sciences of the United States of America 106(37):15791-15795.
Clift, R. A., Buckner, C. D., Thomas, E. D., Kopecky, K. J., Appelbaum, F. R., Tallman, M., Storb, R., Sanders, J., Sullivan, K., Banaji, M. and et al. (1987). "The treatment of acute non-lymphoblastic leukemia by allogeneic marrow transplantation." Bone Marrow Transplantation 2(3):243-258.
Clinicaltrials.gov (2017). "The KHENERGY Study.".
Coble, M. D. and Butler, J. M. (2005). "Characterization of new miniSTR loci to aid analysis of degraded DNA." Journal of Forensic Sciences 50(1):43-53.
Coble, M. D., Just, R. S., O'Callaghan, J. E., Letmanyi, I. H., Peterson, C. T., Irwin, J. A. and Parsons, T. J. (2004). "Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians." International Journal of Legal Medicine 118(3):137-146.
Cochran, B., Capaldi, R. A. and Ackrell, B. A. (1994). "The cDNA sequence of beef heart CII-3, a membrane-intrinsic subunit of succinate-ubiquinone oxidoreductase." Biochim Biophys Acta 1188(1-2):162-166.
Cock, H. and Schapira, A. H. (1999). "Mitochondrial DNA mutations and mitochondrial dysfunction in epilepsy." Epilepsia 40(Suppl 3):33-40.
Cock, H. R., Cooper, J. M. and Schapira, A. H. (1995). "The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity." American Journal of Human Genetics 57(6):1501-1502.
Cock, H. R., Cooper, J. M. and Schapira, A. H. (1999). "Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy [see comments]." Journal of the Neurological Sciences 165(1):10-17.
Cock, H. R., Tabrizi, S. J., Cooper, J. M. and Schapira, A. H. (1998). "The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy." Annals of Neurology 44(2):187-193.
Cock, H., Mandler, R., Ahmed, W. and Schapira, A. H. (1997). "Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy." Journal of Neurology, Neurosurgery & Psychiatry 62(1):85-87.
Coenen, M. J., Smeitink, J. A., Farhoud, M. H., Nijtmans, L. G., Rodenburg, R., Janssen, A., van Kaauwen, E. P., Trijbels, F. J. and van den Heuvel, L. P. (2006). "The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report." Journal of Inherited Metabolic Disease 29(1):212-213.
Coenen, M. J., Smeitink, J. A., Pots, J. M., van Kaauwen, E., Trijbels, F. J., Hol, F. A. and van den Heuvel, L. P. (2006). "Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations." Journal of Child Neurology 21(6):508-511.
Cohen, S., Regev, A. and Lavi, S. (1997). "Small polydispersed circular DNA (spcDNA) in human cells: association with genomic instability." Oncogene 14(8):977-985.
Colagar, A. H., Mosaieby, E., Seyedhassani, S. M., Mohajerani, M., Arasteh, A., Kamalidehghan, B. and Houshmand, M. (2013). "T4216C mutation in NADH dehydrogenase I gene is associated with recurrent pregnancy loss." Mitochondrial DNA 24(5):610-612.
Coleman, W. B. and Cunningham, C. C. (1990). "Effects of chronic ethanol consumption on the synthesis of polypeptides encoded by the hepatic mitochondrial genome." Biochimica et Biophysica Acta 1019(2):142-150.
Coleman, W. B. and Cunningham, C. C. (1991). "Effect of chronic ethanol consumption on hepatic mitochondrial transcription and translation." Biochimica et Biophysica Acta 1058(2):178-186.
Coling, D. E., Yu, K. C., Somand, D., Satar, B., Bai, U., Huang, T. T., Seidman, M. D., Epstein, C. J., Mhatre, A. N. and Lalwani, A. K. (2003). "Effect of SOD1 overexpression on age- and noise-related hearing loss." Free Radical Biology and Medicine 34(7):873-880.
Coller, H. A., Khrapko, K., Bodyak, N. D., Nekhaeva, E., Herrero-Jimenez, P. and Thilly, W. G. (2001). "High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection." Nature Genetics 28(2):147-150.
Coller, H. A., Khrapko, K., Torres, A., Frampton, M. W., Utell, M. J. and Thilly, W. G. (1998). "Mutational spectra of a 100-base pair mitochondrial DNA target sequence in bronchial epithelial cells: a comparison of smoking and nonsmoking twins." Cancer Research 58(6):1268-1277.
Collins, D. W., Gudiseva, H. V., Trachtman, B., Bowman, A. S., Sagaser, A., Sankar, P., Miller-Ellis, E., Lehman, A., Addis, V. and O'Brien, J. M. (2016). "Association of primary open-angle glaucoma with mitochondrial variants and haplogroups common in African Americans." Molecular Vision 22:454-471.
Collins, J. M. and Foster, K. A. (1983). "Differentiation of promyelocytic (HL-60) cells into mature granulocytes: mitochondrial-specific rhodamine 123 fluorescence." Journal of Cell Biology 96(1):94-99.
Collins, S., Dennett, X., Byrne, E. and Marzuki, S. (1991). "Chronic progressive external ophthalmoplegia in patients with large heteroplasmic mitochondrial DNA deletions: an immunocytochemical study." Acta Neuropathologica 82(3):185-192.
Collinson, I. R., Fearnley, I. M., Skehel, J. M., Runswick, M. J. and Walker, J. E. (1994). "ATP synthase from bovine heart mitochondria: identification by proteolysis of sites in F0 exposed by removal of F1 and the oligomycin-sensitivity conferral protein." Biochemical Journal 303(Pt 2):639-645.
Collinson, I. R., Runswick, M. J., Buchanan, S. K., Fearnley, I. M., Skehel, J. M., van Raaij, M. J., Griffiths, D. E. and Walker, J. E. (1994). "F0 membrane domain of ATP synthase from bovine heart mitochondria: purification, subunit composition, and reconstitution with F1-ATPase." Biochemistry 33(25):7971-7978.
Collinson, I. R., van Raaij, M. J., Runswick, M. J., Fearnley, I. M., Skehel, J. M., Orriss, G. L., Miroux, B. and Walker, J. E. (1994). "ATP synthase from bovine heart mitochondria. In vitro assembly of a stalk complex in the presence of F1-ATPase and in its absence." Journal of Molecular Biology 242(4):408-421.
Collombet, J. M., Faure-Vigny, H., Mandon, G., Dumoulin, R., Boissier, S., Bernard, A., Mousson, B. and Stepien, G. (1997). "Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies." Molecular & Cellular Biochemistry 168(1-2):73-85.
Colombo, I., Finocchiaro, G., Garavaglia, B., Garbuglio, N., Yamaguchi, S., Frerman, F. E., Berra, B. and DiDonato, S. (1994). "Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II." Human Molecular Genetics 3(3):429-435.
Colonna, V., Pistis, G., Bomba, L., Mona, S., Matullo, G., Boano, R., Sala, C., Vigano, F., Torroni, A., Achilli, A., Hooshiar Kashani, B., Malerba, G., Gambaro, G., Soranzo, N. and Toniolo, D. (2013). "Small effective population size and genetic homogeneity in the Val Borbera isolate." European Journal of Human Genetics 21(1):89-94.
Colson, I. B., Richards, M. B., Bailey, J. F., Sykes, B. and Hedges, R. E. M. (1997). "DNA analysis of seven human skeletons excavated from the Terp of Wijnaldum." Journal of Archaeological Science 24(10):911-917.
Comas, D., Calafell, F., Mateu, E., Perez-Lezaun, A., Bosch, E., Martinez-Arias, R., Clarimon, J., Facchini, F., Fiori, G., Luiselli, D., Pettener, D. and Bertranpetit, J. (1998). "Trading genes along the silk road: mtDNA sequences and the origin of central Asian populations." American Journal of Human Genetics 63(6):1824-1838.
Comi, G. P., Bordoni, A., Salani, S., Franceschina, L., Sciacco, M., Prelle, A., Fortunato, F., Zeviani, M., Napoli, L., Bresolin, N., Moggio, M., Ausenda, C. D., Taanman, J. W. and Scarlato, G. (1998). "Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease." Annals of Neurology 43(1):110-116.
Comi, G. P., Strazzer, S., Galbiati, S. and Bresolin, N. (2002). "Cytochrome c oxidase deficiency." International Review of Neurobiology 53:205-240.
Comte, C., Tonin, Y., Heckel-Mager, A. M., Boucheham, A., Smirnov, A., Aure, K., Lombes, A., Martin, R. P., Entelis, N. and Tarassov, I. (2013). "Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome". Nucleic Acids Research 41(1):418-433.
Conforto, A. B., Yamamoto, F. I., Oba-Shinjo, S. M., Pinto, J. G., Hoshino, M., Scaff, M. and Marie, S. K. (2007). "Screening for MELAS mutations in young patients with stroke of undetermined origin." Arquivos de Neuro-Psiquiatria 65(2B):371-376.
Conley, K. E., Jubrias, S. A., Amara, C. E. and Marcinek, D. J. (2007). "Mitochondrial dysfunction: impact on exercise performance and cellular aging." Exercise and Sport Sciences Reviews 35(2):43-49.
Conley, Y. P., Brockway, H., Beatty, M. and Kerr, M. E. (2003). "Qualitative and quantitative detection of mitochondrial heteroplasmy in cerebrospinal fluid using denaturing high-performance liquid chromatography." Brain Research. Brain Research Protocols 12(2):99-103.
Connell, J. R., Benton, M. C., Lea, R. A., Sutherland, H. G., Chaseling, J., Haupt, L. M., Wright, K. M. and Griffiths, L. R. (2022). "Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population." Scientific Reports 12(1):6827.
Connern, C. P. and Halestrap, A. P. (1992). "Purification and N-terminal sequencing of peptidyl-prolyl cis-trans- isomerase from rat liver mitochondrial matrix reveals the existence of a distinct mitochondrial cyclophilin." Biochemical Journal 284(Pt 2):381-385.
Connor, T. M., Hoer, S., Mallett, A., Gale, D. P., Gomez-Duran, A., Posse, V., Antrobus, R., Moreno, P., Sciacovelli, M., Frezza, C., Duff, J., Sheerin, N. S., Sayer, J. A., Ashcroft, M., Wiesener, M. S., Hudson, G., Gustafsson, C. M., Chinnery, P. F. and Maxwell, P. H. (2017). "Mutations in mitochondrial DNA causing tubulointerstitial kidney disease." PLoS Genetics 13(3):e1006620.
Coon, K. D., Valla, J., Szelinger, S., Schneider, L. E., Niedzielko, T. L., Brown, K. M., Pearson, J. V., Halperin, R., Dunckley, T., Papassotiropoulos, A., Caselli, R. J., Reiman, E. M. and Stephan, D. A. (2006). "Quantitation of heteroplasmy of mtDNA sequence variants identified in a population of AD patients and controls by array-based resequencing." Mitochondrion 6(4):194-210.
Cooper, A., Poinar, H. N., Paabo, S., Radovcic, J., Debenath, A., Caparros, M., Barroso-Ruiz, C., Bertranpetit, J., Nielsen-Marsh, C., Hedges, R. E. and Sykes, B. (1997). "Neandertal genetics [letter; comment]." Science 277(5329):1021-1024.
Cooper, J. M., Mann, V. M. and Schapira, A. H. V. (1992). "Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing." Journal of the Neurological Sciences 113(1):91-98.
Copeland, W. C. (2008). "Inherited mitochondrial diseases of DNA replication." Annual Review of Medicine 59:131-146.
Copeland, W. C. (2010). "The mitochondrial DNA polymerase in health and disease." Subcell Biochem 50:211-222.
Copeland, W. C., Ponamarev, M. V., Nguyen, D., Kunkel, T. A. and Longley, M. J. (2003). "Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders." Acta biochimica Polonica 50(1):155-167.
Copeland, W. C., Wachsman, J. T., Johnson, F. M. and Penta, J. S. (2002). "Mitochondrial DNA alterations in cancer." Cancer Investigation 20(4):557-569.
Coppel, R. L., McNeilage, L. J., Surh, C. D., Van de Water, J., Spithill, T. W., Whittingham, S. and Gershwin, M. E. (1988). "Primary structure of the human M2 mitochondrial autoantigen of primary biliary cirrhosis: dihydrolipoamide acetyltransferase." Proceedings of the National Academy of Sciences of the United States of America 85(19):7317-7321.
Corcoran, J. A., Saffran, H. A., Duguay, B. A. and Smiley, J. R. (2009). "Herpes simplex virus UL12.5 targets mitochondria through a mitochondrial localization sequence proximal to the N-terminus." Journal of Virology 83(6):2601-2610.
Corder, E. H., Saunders, A. M., Strittmatter, W. J., Schmechel, D. E., Gaskell, P. C., Small, G. W., Roses, A. D., Haines, J. L. and Pericak-Vance, M. A. (1993). "Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families." Science 261(5123):921-923.
Cordero, M. D., Alcocer-Gomez, E., Marin-Aguilar, F., Rybkina, T., Cotan, D., Perez-Pulido, A., Alvarez-Suarez, J. M., Battino, M., Sanchez-Alcazar, J. A., Carrion, A. M., Culic, O., Navarro-Pando, J. M. and Bullon, P. (2016). "Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation." Journal of Medical Genetics 53(2):113-122.
Cormier-Daire, V., Bonnefont, J. P., Rustin, P., Maurage, C., Ogler, H., Schmitz, J., Ricour, C., Saudubray, J. M., Munnich, A. and Rotig, A. (1994). "Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy." Journal of Pediatrics 124(1):63-70.
Cormier, V., Rotig, A., Bonnefont, J. P., Mechinand, F., Berthou, C., Goulet, O., Schmitz, J., Blanche, S., Vassaut, A. and Maier, M. (1991). "Pearson's syndrome. Pancytopenia with exocrine pancreatic insufficiency: new mitochondrial disease in the first year of childhood." Archives Francaises de Pediatrie 48(3):171-178.
Cormier, V., Rotig, A., Quartino, A. R., Forni, G. L., Cerone, R., Maier, M., Saudubray, J. M. and Munnich, A. (1990). "Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome." Journal of Pediatrics 117(4):599-602.
Cormier, V., Rotig, A., Tardieu, M., Colonna, M., Saudubray, J. M. and Munnich, A. (1991). "Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy." American Journal of Human Genetics 48(4):643-648.
Corona, P., Lamantea, E., Greco, M., Carrara, F., Agostino, A., Guidetti, D., Dotti, M. T., Mariotti, C. and Zeviani, M. (2002). "Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations." Annals of Neurology 51(1):118-122.
Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., Beal, M. F. and Wallace, D. C. (1992). "Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age." Nature Genetics 2(4):324-329.
Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., McKee, A. C., Beal, M. F., Graham, B. H. and Wallace, D. C. (1994). "Marked changes in mitochondrial DNA deletion levels in Alzheimer brains." Genomics 23(2):471-476.
Corral-Debrinski, M., Shoffner, J. M., Lott, M. T. and Wallace, D. C. (1992). "Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease." Mutation Research 275(3-6):169-180.
Corral-Debrinski, M., Stepien, G., Shoffner, J. M., Lott, M. T., Kanter, K. and Wallace, D. C. (1991). "Hypoxemia is associated with mitochondrial DNA damage and gene induction." JAMA 266(13):1812-1816.
Corte-Real, H. B., Macaulay, V. A., Richards, M. B., Hariti, G., Issad, M. S., Cambon-Thomsen, A., Papiha, S., Bertranpetit, J. and Sykes, B. C. (1996). "Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis." Annals of Human Genetics 60(Pt 4):331-350.
Cortelli, P., Montagna, P., Avoni, P., Sangiorgi, S., Bresolin, N., Moggio, M., Zaniol, P., Mantovani, V., Barboni, P., Barbiroli, B. and Lugaresi, E. (1991). "Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family." Neurology 41(8):1211-1215.
Cortelli, P., Montagna, P., Pierangeli, G., Lodi, R., Barboni, P., Liguori, R., Carelli, V., Iotti, S., Zaniol, P., Lugaresi, E. and Barbiroli, B. (1997). "Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study." Journal of the Neurological Sciences 148(1):25-31.
Cortopassi, G. A. (2002). "A neutral theory predicts multigenic aging and increased concentrations of deleterious mutations on the mitochondrial and Y chromosomes." Free Radical Biology and Medicine 33(5):605-610.
Cortopassi, G. A. and Arnheim, N. (1990). "Detection of a specific mitochondrial DNA deletion in tissues of older humans." Nucleic Acids Research 18(23):6927-6933.
Cortopassi, G. A. and Hutchin, T. P. (1994). "Germline inheritance of a rare mtDNA variant leads to greatly increased risk for Alzheimer's disease." American Journal of Human Genetics 55:A149 (abstract 857).
Cortopassi, G. A. and Wong, A. (1999). "Mitochondria in organismal aging and degeneration." Biochimica et Biophysica Acta 1410(2):183-193.
Cortopassi, G. A., Shibata, D., Soong, N. W. and Arnheim, N. (1992). "A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues." Proceedings of the National Academy of Sciences of the United States of America 89(16):7370-7374.
Cortopassi, G. and Arnheim, N. (1992). "Accumulation of mitochondrial DNA mutation in normal aging brain and muscle." In Mitochondrial DNA in Human Pathology: 125-136; N.Y., Raven Press. DiMauro, S. and Wallace, D. C., Eds.
Cortopassi, G. and Wang, E. (1995). "Modelling the effects of age-related mtDNA mutation accumulation; complex I deficiency, superoxide and cell death." Biochimica et Biophysica Acta 1271(1):171-176.
Coskun, P. E., Beal, M. F. and Wallace, D. C. (2004). "Somatic mitochondrial DNA control region mutations are prevalent in Alzheimer Disease brains." Proceedings of the National Academy of Sciences of the United States of America 101(29):10726-10731.
Coskun, P. E., Ruiz-Pesini, E. E. and Wallace, D. C. (2003). "Control region mtDNA variants: longevity, climatic adaptation and a forensic conundrum." Proceedings of the National Academy of Sciences of the United States of America 100(5):2174-2176.
Coskun, P. E., Wyrembak, J., Derbereva, O., Melkonian, G., Doran, E., Lott, I. T., Head, E., Cotman, C. W. and Wallace, D. C. (2010). "Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and down syndrome dementia." Journal of Alzheimer's Disease 20 Suppl 2:S293-S310.
Coskun, P., Wyrembak, J., Schriner, S. E., Chen, H. W., Marciniack, C., LaFerla, F. and Wallace, D. C. (2012). "A mitochondrial etiology of Alzheimer and Parkinson disease". Biochimica et Biophysica Acta 1820(5):553-564.
Cossarizza, A., Troiano, L. and Mussini, C. (2002). "Mitochondria and HIV infection: the first decade." Journal of Biological Regulators and Homeostatic Agents 16(1):18-24.
Cote, H. C., Day, A. G. and Heyland, D. K. (2007). "Longitudinal increases in mitochondrial DNA levels in blood cells are associated with survival in critically ill patients." Critical Care 11(4):R88.
Cotta, A., Carvalho, E., da-Cunha-Junior, A., Navarro, M. M., Paim, J. F., Valicek, J., Baptista-Junior, S., da Silveira, E. B., Lima, M. I., Carellos, E. V. M., de-La-Rocque-Ferreira, A., Takata, R. I. and Horvath, R. (2021). "Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency." Neuromuscular Disorders 31(6):551-557.
Cottrell, D. A., Borthwick, G. M., Johnson, M. A., Ince, P. G. and Turnbull, D. M. (2002). "The role of cytochrome c oxidase deficient hippocampal neurones in Alzheimer's disease." Neuropathology and Applied Neurobiology 28(5):390-396.
Coude, F. X., Ogier, H., Charpentier, C., Thomassin, G., Checoury, A., Amedee-Manesme, O., Saudubray, J. M. and Frezal, J. (1981). "Neonatal glutaric aciduria type II: an X-linked recessive inherited disorder." Human Genetics 59(3):263-265.
Coulter-Mackie, M. B., Applegarth, D. A., Toone, J. R. and Gagnier, L. (1998). "A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion." Clinical Biochemistry 31(8):627-632.
Courtenay, M. D., Gilbert, J. R., Jiang, L., Cummings, A. C., Gallins, P. J., Caywood, L., Reinhart-Mercer, L., Fuzzell, D., Knebusch, C., Laux, R., McCauley, J. L., Jackson, C. E., Pericak-Vance, M. A., Haines, J. L. and Scott, W. K. (2012). "Mitochondrial haplogroup X is associated with successful aging in the Amish". Human Genetics 131(2):201-208.
Coussa, R. G., Merat, P. and Levin, L. A. (2019). "Propagation and selectivity of axonal loss in Leber hereditary optic neuropathy." Scientific Reports 9(1):6720.
Covarrubias, D., Bai, R. K., Wong, L. J. and Leal, S. M. (2008). "Mitochondrial DNA variant interactions modify breast cancer risk." Journal of Human Genetics 53(10):924-928.
Cox, M. P., Nelson, M. G., Tumonggor, M. K., Ricaut, F. X. and Sudoyo, H. (2012). "A small cohort of Island Southeast Asian women founded Madagascar". Proceedings. Biological Sciences / The Royal Society 279(1739):2761-2768.
Cox, R., Platt, J., Chen, L. C., Tang, S., Wong, L. J. and Enns, G. M. (2012). "Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine". Mitochondrion 12(2):258-261.
Cozens, A. L., Runswick, M. J. and Walker, J. E. (1989). "DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase." Journal of Molecular Biology 206(2):261-280.
Craig, K., Elliott, H. R., Keers, S. M., Lambert, C., Pyle, A., Graves, T. D., Woodward, C., Sweeney, M. G., Davis, M. B., Hanna, M. G. and Chinnery, P. F. (2007). "Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation." Journal of Medical Genetics 44(12):797-799.
Craven, L., Tuppen, H. A., Greggains, G. D., Harbottle, S. J., Murphy, J. L., Cree, L. M., Murdoch, A. P., Chinnery, P. F., Taylor, R. W., Lightowlers, R. N., Herbert, M. and Turnbull, D. M. (2010). "Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease." Nature 465(7294):82-85.
Crawford, M. H., Rubicz, R. C. and Zlojutro, M. (2010). "Origins of Aleuts and the genetic structure of populations of the archipelago: molecular and archaeological perspectives". Human Biology 82(5-6):695-717.
Crameri, A., Whitehorn, E. A., Tate, E. and Stemmer, W. P. C. (1996). "Improved green fluorescent protein by molecular evolution using DNA shuffling." Nature Biotechnology 14(3):315-319.
Cree, L. M., Samuels, D. C. and Chinnery, P. F. (2009). "The inheritance of pathogenic mitochondrial DNA mutations". Biochimica et Biophysica Acta 1792(12):1097-1102.
Cree, L. M., Samuels, D. C., de Sousa Lopes, S. C., Rajasimha, H. K., Wonnapinij, P., Mann, J. R., Dahl, H. H. and Chinnery, P. F. (2008). "A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes." Nature Genetics 40(2):249-254.
Crespillo, M., Paredes, M. R., Prieto, L., Montesino, M., Salas, A., et al. (2005). "Results of the 2003-2004 GEP-ISFG collaborative study on mitochondrial DNA: Focus on the mtDNA profile of a mixed semen-saliva stain." Forensic Science International 160(2-3):157-167.
Crews, S., Ojala, D., Posakonoy, J., Nishiguchi, J. and Attardi, G. (1979). "Nucleotide sequence of a region of human mitochondrial DNA containing the precisely identified origin of replication." Nature 277(5693):192-198.
Crimi, M. and Rigolio, R. (2008). "The mitochondrial genome, a growing interest inside an organelle." International Journal of Nanomedicine 3(1):51-57.
Crimi, M., Del Bo, R., Galbiati, S., Sciacco, M., Bordoni, A., Bresolin, N. and Comi, G. P. (2003). "Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion." European Journal of Human Genetics 11(11):896-898.
Crimi, M., Galbiati, S., Moroni, I., Bordoni, A., Perini, M. P., Lamantea, E., Sciacco, M., Zeviani, M., Biunno, I., Moggio, M., Scarlato, G. and Comi, G. P. (2003). "A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome." Neurology 60(11):1857-1861.
Crimi, M., Galbiati, S., Perini, M. P., Bordoni, A., Malferrari, G., Sciacco, M., Biunno, I., Strazzer, S., Moggio, M., Bresolin, N. and Comi, G. P. (2003). "A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness." Neurology 60(7):1200-1203.
Crimi, M., Galbiati, S., Sciacco, M., Bordoni, A., Natali, M. G., Raimondi, M., Bresolin, N. and Comi, G. P. (2004). "Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: the confirmation in two new cases." Mitochondrion 3(5):279-283.
Crimi, M., Papadimitriou, A., Galbiati, S., Palamidou, P., Fortunato, F., Bordoni, A., Papandreou, U., Papadimitriou, D., Hadjigeorgiou, G. M., Drogari, E., Bresolin, N. and Comi, G. P. (2004). "A new mitochondrial DNA mutation in ND3 gene causing severe Leigh Syndrome with early lethality." Pediatric Research 55(5):842-846.
Crimi, M., Sciacco, M., Galbiati, S., Bordoni, A., Malferrari, G., Del Bo, R., Biunno, I., Bresolin, N. and Comi, G. P. (2002). "A collection of 33 novel human mtDNA homoplasmic variants." Human Mutation 20(5):409.
Crispim, D., Canani, L. H., Gross, J. L., Tschiedel, B., Souto, K. E. and Roisenberg, I. (2006). "The European-specific mitochondrial cluster J/T could confer an increased risk of insulin-resistance and type 2 diabetes: an analysis of the m.4216T > C and m.4917A > G variants." Annals of Human Genetics 70(Pt 4):488-495.
Crispim, D., Fagundes, N. J., Canani, L. H., Gross, J. L., Tschiedel, B. and Roisenberg, I. (2006). "Role of the mitochondrial m.16189T>C variant in type 2 diabetes mellitus in southern Brazil." Diabetes Research and Clinical Practice 74(2):204-206.
Crivellone, M. D., Wu, M. and Tzagoloff, A. (1988). "Assembly of the mitochondrial membrane system. Analysis of structural mutants of the yeast coenzyme QH2-cytochrome c reductase complex." Journal of Biological Chemistry 263:14323-14333.
Croteau, D. L. and Bohr, V. A. (1997). "Repair of oxidative damage to nuclear and mitochondrial DNA in mammalian cells." Journal of Biological Chemistry 272(41):25409-25412.
Croteau, D. L., ap Rhys, C. M., Hudson, E. K., Dianov, G. L., Hansford, R. G. and Bohr, V. A. (1997). "An oxidative damage-specific endonuclease from rat liver mitochondria." Journal of Biological Chemistry 272(43):27338-27344.
Croteau, D. L., Stierum, R. H. and Bohr, V. A. (1999). "Mitochondrial DNA repair pathways." Mutation Research 434(3):137-148.
Crouch, P. J., Cimdins, K., Duce, J. A., Bush, A. I. and Trounce, I. A. (2007). "Mitochondria in aging and Alzheimer's disease." Rejuvenation Res 10(3):349-357.
Cruz-Bermudez, A., Vallejo, C. G., Vicente-Blanco, R. J., Gallardo, M. E., Fernandez-Moreno, M. A., Quintanilla, M. and Garesse, R. (2015). "Enhanced tumorigenicity by mitochondrial DNA mild mutations." Oncotarget 6(15):13628-13643.
Cuba Neuropathy Field Investigation Team, The (1995). "Epidemic optic neuropathy in Cuba--clinical characterization and risk factors." New England Journal of Medicine 333(18):1176-1182.
Cui, C., Li, Q., Zhang, Y. and Zhang, J. (2002). "Study on the relationship between mitochondrial gene mutation and latent autoimmune diabetes mellitus in adults." Chinese Medical Sciences Journal 17(2):73-76.
Cui, G., Ding, H., Xu, Y., Li, B. and Wang, D. W. (2013). "Applications of the method of high resolution melting analysis for diagnosis of Leber's disease and the three primary mutation spectrum of LHON in the Han Chinese population." Gene 512(1):108-112.
Cui, H., Li, F., Chen, D., Wang, G., Truong, C. K., Enns, G. M., Graham, B., Milone, M., Landsverk, M. L., Wang, J., Zhang, W. and Wong, L. J. (2013). "Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders." Genetics in Medicine 15(5):388-394.
Cui, S., Jiang, H., Peng, J., Wang, J. and Zhang, X. (2019). "Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber hereditary optic neuropathy and the G11778A Mutation." Journal of Neuro-Ophthalmology 39(1):56-59.
Cui, S., Yang, L., Jiang, H., Peng, J., Shang, J., Wang, J. and Zhang, X. (2020). "Clinical features of Chinese sporadic Leber hereditary optic neuropathy caused by rare primary mtDNA mutations." Journal of Neuro-Ophthalmology 40(1):30-36.
Cui, S. L., Yang, L., Wang, W., Shang, J. and Zhang, X. J. (2007). [Rare primary mt-DNA mutations in Leber hereditary optic neuropathy]. Ophthalmology in China 16(6):382-385.
Cui, X., Wang, J., Cai, Z., Wang, J., Liu, K., Cui, S., Zhang, J., Luo, Y., Wang, X., Li, W. and Jing, J. (2014). "Complete sequence analysis of mitochondrial DNA and telomere length in aplastic anemia." International Journal of Molecular Medicine 34(5):1309-1314.
Cui, Y. and He, D. J. (2018). "Mitochondrial tRNAIle A4317G mutation may be associated with hearing impairment in a Han Chinese family." Molecular Medicine Reports 18(6):5159-5165.
Cullom, M. E., Heher, K. L., Miller, N. R., Savino, P. J. and Johns, D. R. (1993). "Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia." Archives of Ophthalmology 111(11):1482-1485.
Cummins, J. M. (2002). "The role of maternal mitochondria during oogenesis, fertilization and embryogenesis." Reproductive Biomedicine Online 4(2):176-182.
Cummins, J. M., Jequier, A. M., Martin, R., Mehmet, D. and Goldblatt, J. (1998). "Semen levels of mitochondrial DNA deletions in men attending an infertility clinic do not correlate with phenotype." International Journal of Andrology 21(1):47-52.
Cunningham, C. C. and Spach, P. I. (1994). "Alcoholism and myocardial energy metabolism." Alcoholism: Clinical and Experimental Research 18(1):132-137.
Cunningham, C. C., Kouri, D. L., Beeker, K. R. and Spach, P. I. (1989). "Comparison of effects of long-term ethanol consumption on the heart and liver of the rat." Alcoholism: Clinical and Experimental Research 13(1):58-65.
Cupini, L. M., Massa, R., Floris, R., Manenti, G., Martini, B., Tessa, A., Nappi, G., Bernardi, G. and Santorelli, F. M. (2003). "Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation." Neurology 60(4):717-719.
Curbo, S., Lagier-Tourenne, C., Carrozzo, R., Palenzuela, L., Lucioli, S., Hirano, M., Santorelli, F., Arenas, J., Karlsson, A. and Johansson, M. (2006). "Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes." Genomics 87(3):410-416.
Cursiefen, C., Kuchle, M., Scheurlen, W. and Naumann, G. O. (1998). "Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome." American Journal of Ophthalmology 125(2):260-261.
Cuticchia, A. J., Ed. (1995). Human Gene Mapping 1994, a Compendium. Baltimore, The Johns Hopkins University Press.
Czarnecka, A. M., Klemba, A., Krawczyk, T., Zdrozny, M., Arnold, R. S., Bartnik, E. and Petros, J. A. (2010). "Mitochondrial NADH-dehydrogenase polymorphisms as sporadic breast cancer risk factor." Oncology Reports 23(2):531-535.
Czell, D., Abicht, A., Hench, J. and Weber, M. (2012). "Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation." BMJ Case Reports 2012:bcr2012006980.
D'Aurelio, M., Gajewski, C. D., Lin, M. T., Mauck, W. M., Shao, L. Z., Lenaz, G., Moraes, C. T. and Manfredi, G. (2004). "Heterologous mitochondrial DNA recombination in human cells." Human Molecular Genetics 13(24):3171-3179.
D'Aurelio, M., Pallotti, F., Barrientos, A., Gajewski, C. D., Kwong, J. Q., Bruno, C., Beal, M. F. and Manfredi, G. (2001). "In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit I." Journal of Biological Chemistry 276(50):46925-46932.
D'Aurelio, M., Vives-Bauza, C., Davidson, M. M. and Manfredi, G. (2010). "Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells." Human Molecular Genetics 19(2):374-386.
da Costa, C. K., Kiyomoto, B. H., Schmidt, B., Oliveira, A. S., Gabbai, A. A. and Tengan, C. H. (2007). "Age-related mitochondrial DNA point mutations in patients with mitochondrial myopathy." Journal of the Neurological Sciences 263(1-2):139-144.
da Fonseca, R. R., Johnson, W. E., O'Brien, S. J., Ramos, M. J. and Antunes, A. (2008). "The adaptive evolution of the mammalian mitochondrial genome." BMC Genomics 9:119.
Da Pozzo, P., Cardaioli, E., Malfatti, E., Gallus, G. N., Malandrini, A., Gaudiano, C., Berti, G., Invernizzi, F., Zeviani, M. and Federico, A. (2009). "A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency." European Journal of Human Genetics 17(8):1092-1096.
Da Pozzo, P., Cardaioli, E., Radi, E. and Federico, A. (2004). "Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations." Biochemical and Biophysical Research Communications 324(1):360-364.
Dagan, T., Sable, C., Bray, J. and Gerschenson, M. (2002). "Mitochondrial dysfunction and antiretroviral nucleoside analog toxicities: what is the evidence?" Mitochondrion 1(5):397-412.
Dahadhah, F. W., Saleh Jaweesh, M., Al Zoubi, M. S., Issam Abu Alarjah, M., Hammadeh, M. E. and Amor, H. (2021). "Lack of association between single polymorphic variants of the mitochondrial nicotinamide adenine dinucleotide dehydrogenase 3, and 4L (MT-ND3 and MT-ND4L) and male infertility." Andrologia 53(8):e14139.
Dahl, H. H. (1995). "Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again [editorial; comment]." American Journal of Human Genetics 56(3):553-557.
Dahl, H. H. (1998). "Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome [editorial; comment]." American Journal of Human Genetics 63(6):1594-1597.
Dahl, H. H., Brown, R. M., Hutchison, W. M., Maragos, C. and Brown, G. K. (1990)."A testis-specific form of the human pyruvate dehydrogenase E1 alpha subunit is coded for by an intronless gene on chromosome 4." Genomics 8(2):225-232.
Dai, P., Liu, X., Han, D., Qian, Y., Huang, D., et al. (2006). "Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness." Biochemical and Biophysical Research Communications 340(1):194-199.
Dai, P., Yang, W., Jiang, S., Gu, R., Yuan, H., Han, D., Guo, W. and Cao, J. (2004). "Correlation of cochlear blood supply with mitochondrial DNA common deletion in presbyacusis." Acta Oto Laryngologica 124(2):130-136.
Dai, P., Yuan, Y., Huang, D., Qian, Y., Liu, X., Han, D., Yuan, H., Wang, X., Young, W. Y. and Guan, M. X. (2006). "Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families." Biochemical and Biophysical Research Communications 348(1):200-205.
Dai, Y., Wang, C., Nie, Z., Han, J., Chen, T., Zhao, X., Ai, C., Ji, Y., Gao, T. and Jiang, P. (2018). "Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel." Biomedical Reports 8(1):51-58.
Dairaghi, D. J., Shadel, G. S. and Clayton, D. A. (1995). "Human mitochondrial transcription factor A and promoter spacing integrity are required for transcription initiation." Biochimica et Biophysica Acta 1271(1):127-134.
Dairaghi, D. J., Shadel, G. S. and Clayton, D. A. (1995)."Addition of a 29 residue carboxyl-terminal tail converts a simple HMG box-containing protein into a transcriptional activator." Journal of Molecular Biology 249(1):11-28.
Dalakas, M. C., Semino-Mora, C. and Leon-Monzon, M. (2001). "Mitochondrial alterations with mitochondrial DNA depletion in the nerves of AIDS patients with peripheral neuropathy induced by 2'3'-dideoxycytidine (ddC)." Laboratory Investigation; a Journal of Technical Methods and Pathology 81(11):1537-1544.
Dallabona, C., Marsano, R. M., Arzuffi, P., Ghezzi, D., Mancini, P., Zeviani, M., Ferrero, I. and Donnini, C. (2010). "Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator." Human Molecular Genetics 19(6):1098-1107.
Damian, M. S., Seibel, P., Schachenmayr, W., Reichmann, H. and Dorndorf, W. (1996)."VACTERL with the mitochondrial np 3243 point mutation [see comments]." American Journal of Medical Genetics 62(4):398-403.
Damore, M.E., Speiser, P.W., Slonim, A.E., New, M.I., Shanske, S., Xia, W., Santorelli, F.M. and DiMauro, S. (1999). "Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review." Journal of Pediatric Endrocrinology and Metabolism 12(2):207-213.
Danan, C., Sternberg, D., Van Steirteghem, A., Cazeneuve, C., Duquesnoy, P., Besmond, C., Goossens, M., Lissens, W. and Amselem, S. (1999). "Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection." American Journal of Human Genetics 65(2):463-473.
Dandekar, S. S., Graham, E. M. and Plant, G. T. (2002). "Ladies with Leber's hereditary optic neuropathy: an atypical disease." European Journal of Ophthalmology 12(6):537-541.
Danese, A., Patergnani, S., Maresca, A., Peron, C., Raimondi, A., et al. (2022). "Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy." Cell Reports 40(3):111124.
Danhelovska, T., Kolarova, H., Zeman, J., Hansikova, H., Vaneckova, M., Lambert, L., Kucerova-Vidrova, V., Berankova, K., Honzik, T. and Tesarova, M. (2020). "Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I." BMC Pediatr 20(1):41.
Dani, M. A. and Dani, S. U. (2010). "Improving upon nature's somatic mitochondrial DNA therapies." Medical Hypotheses 74(6):1021-1025.
Dani, S. U., Dani, M. A. and Simpson, A. J. (2003). "The common mitochondrial DNA deletion delta mtDNA(4977): shedding new light to the concept of a tumor suppressor mutation." Medical Hypotheses 61(1):60-63.
Danielson, S. R., Carelli, V., Tan, G., Martinuzzi, A., Schapira, A. H., Savontaus, M. L. and Cortopassi, G. A. (2005). "Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process." Brain 128(Pt 5):1026-1037.
Danielson, S. R., Wong, A., Carelli, V., Martinuzzi, A., Schapira, A. H. V. and Cortopassi, G. A. (2002). "Cells bearing mutation causing Leber's hereditary optic neuropathy are sensitized to Fas-induced apoptosis." Journal of Biological Chemistry 277(8):5810-5815.
Danks, R. A., Dorevitch, M., Cummins, J. T. and Byrne, E. (1988). "Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema." Australian and New Zealand Journal of Medicine 18(1):69-72.
Dar, D. E., Weizman, A., Karp, L., Grinshpoon, A., Bidder, M., Kotler, M., Tyano, S., Bleich, A. and Gavish, M. (1991)."Platelet peripheral benzodiazepine receptors in repeated stress." Life Sciences 48(4):341-346.
Darin, N., Kollberg, G., Moslemi, A. R., Tulinius, M., Holme, E., Gronlund, M. A., Andersson, S. and Oldfors, A. (2006). "Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene." Neuromuscular Disorders 16(8):504-506.
Darin, N., Moslemi, A. R., Lebon, S., Rustin, P., Holme, E., Oldfors, A. and Tulinius, M. (2003). "Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency." Neuropediatrics. 34(6):311-317.
Darin, N., Oldfors, A., Moslemi, A. R., Holme, E. and Tulinius, M. (2001). "The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA anbormalities." Annals of Neurology 49(3):377-383.
Darley-Usmar, V. M., Hogg, N., O'Leary, V. J., Wilson, M. T. and Moncada, S. (1992)."The simultaneous generation of superoxide and nitric oxide can initiate lipid peroxidation in human low density lipoprotein." Free Radical Research Communications 17(1):9-20.
Darley-Usmar, V. M., Kennaway, N. G., Buist, N. R. and Capaldi, R. A. (1983)."Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis." Proceedings of the National Academy of Sciences of the United States of America 80(16):5103-5106.
Darras, B. T., Zeviani, M., Schon, E. A. and Francke, U. (1987). "Sequences homologous to cytochrome c oxidase subunit IV are located on human chromosome 14q21-qter and 16q22-q24." Cytogenetics and Cell Genetics 46:603.
Darvishi, K., Sharma, S., Bhat, A. K., Rai, E. and Bamezai, R. N. (2007). "Mitochondrial DNA G10398A polymorphism imparts maternal Haplogroup N a risk for breast and esophageal cancer". Cancer Letters 249(2):249-255.
Darzynkiewicz, Z., Staiano-Coico, L. and Melamed, M. R. (1981)."Increased mitochondrial uptake of rhodamine 123 during lymphocyte stimulation." Proceedings of the National Academy of Sciences of the United States of America 78(4):2383-2387.
Das, A. M. and Harris, D. A. (1993)."Regulation of the mitochondrial ATP synthase is defective in rat heart during alcohol-induced cardiomyopathy." Biochimica et Biophysica Acta 1181(3):295-299.
Das, D. K., George, A., Liu, X. K. and Rao, P. S. (1989)."Detection of hydroxyl radical in the mitochondria of ischemic-reperfused myocardium by trapping with salicylate." Biochemical and Biophysical Research Communications 165(3):1004-1009.
Das, S., Bennett, A. J., Sovio, U., Ruokonen, A., Martikainen, H., Pouta, A., Hartikainen, A. L., Franks, S., Elliott, P., Poulton, J., Jarvelin, M. R. and McCarthy, M. I. (2007). "Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 years." The Journal of Clinical Endocrinology and Metabolism 92(8):3219-3223.
Dasgupta, S., Hoque, M. O., Upadhyay, S. and Sidransky, D. (2008). "Mitochondrial cytochrome B gene mutation promotes tumor growth in bladder cancer." Cancer Research 68(3):700-706.
Dassa, E. P., Paupe, V., Goncalves, S. and Rustin, P. (2008). "The mtDNA NARP mutation activates the actin-Nrf2 signaling of antioxidant defenses." Biochemical and Biophysical Research Communications 368(3):620-624.
Dato, S., Passarino, G., Rose, G., Altomare, K., Bellizzi, D., Mari, V., Feraco, E., Franceschi, C. and De Benedictis, G. (2004). "Association of the mitochondrial DNA haplogroup J with longevity is population specific." European Journal of Human Genetics 12(12):1080-1082.
Datta, S., Majumder, M., Biswas, N. K., Sikdar, N. and Roy, B. (2007). "Increased risk of oral cancer in relation to common Indian mitochondrial polymorphisms and Autosomal GSTP1 locus." Cancer 110(9):1991-1999.
Dautant, A., Meier, T., Hahn, A., Tribouillard-Tanvier, D., di Rago, J. P. and Kucharczyk, R. (2018). "ATP synthase diseases of mitochondrial genetic origin." Frontiers in Physiology 9:329.
Davidson, M., King, M. P., Koga, Y., Zhang, L. and Schon, E. A. (1995). "Physical communication between mammalian mitochondria: a genetic approach. Abstract PS111." EUROMIT III, Third International Meeting on Human Mitochondrial Pathology, Chantilly, France:23.
Davidzon, G., Greene, P., Mancuso, M., Klos, K. J., Ahlskog, J. E., Hirano, M. and DiMauro, S. (2006). "Early-onset familial parkinsonism due to POLG mutations." Annals of Neurology 59(5):859-862.
Davis, G. C., Williams, A. C., Markey, S. P., Ebert, M. H., Caine, E. D., Reichert, C. M. and Kopin, I. J. (1979)."Chronic Parkinsonism secondary to intravenous injection of meperidine analogues." Psychiatry Research 1(3):249-254.
Davis, J. N., II and Parker, W. D., Jr. (1998). "Evidence that two reports of mtDNA cytochrome c oxidase 'mutations' in Alzheimer's disease are based on nDNA pseudogenes of recent evolutionary origin." Biochemical and Biophysical Research Communications 244(3):877-883.
Davis, K. A. and Hatefi, Y. (1971). "Succinate dehydrogenase. I. Purification, molecular properties, and substructure." Biochemistry 10(13):2509-2516.
Davis, K. A. and Hatefi, Y. (1971). "Spectral and reconstitution properties of cytochromes b in complexes II and 3." Biochemical and Biophysical Research Communications 44(6):1338-1344.
Davis, R. E., Miller, S., Herrnstadt, C., Ghosh, S. S., Fahy, E., Shinobu, L. A., Galasko, D., Thal, L. J., Beal, M. F., Howell, N. and Parker, W. D., Jr. (1997). "Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease." Proceedings of the National Academy of Sciences of the United States of America 94(9):4526-4531.
Davis, R. L., Liang, C. and Sue, C. M. (2018). "Mitochondrial diseases." Handbook of Clinical Neurology 147:125-141.
Dawod, P. G. A., Jancic, J., Marjanovic, A., Brankovic, M., Jankovic, M., Samardzic, J., Gamil Anwar Dawod, A., Novakovic, I., Abdel Motaleb, F. a. I., Radlovic, V., Kostic, V. r. S. and Nikolic, D. (2021). "Mutational analysis and mtDNA haplogroup characterization in three Serbian cases of mitochondrial encephalomyopathies and literature review." Diagnostics 11(11):1969.
Day, B. J., Shawen, S., Liochev, S. I. and Crapo, J. D. (1995). "A metalloporphyrin superoxide dismutase mimetic protects against paraquat-induced endothelial cell injury, in vitro." Journal of Pharmacology and Experimental Therapeutics 275(3):1227-1232.
de Alwis, N., Aithal, G., Bugianesi, E., Leathart, J., Hudson, G., Pyle, A., Mowbray, C., Henderson, E., Burt, A. D., Chinnery, P. F. and Day, C. P. (2011). "Mitochondrial DNA does not contribute to the heritability of non-alcoholic fatty liver disease". Mitochondrion 11(1):234-235.
De Benedictis, G. and Franceschi, C. (1998). "The genetics of successful aging." Aging 10(2):147-148.
De Benedictis, G. and Passarino, G. (2005). "Mitochondrial DNA polymorphisms " Encyclopedia of Life Sciences. Online publication (January 27, 2006) http://dx.doi.org/2010.1038/npg.els.0006163.
De Benedictis, G., Carrieri, G., Varcasia, O., Bonafe, M. and Franceschi, C. (2000). "Inherited variability of the mitochondrial genome and successful aging in humans." Annals of the New York Academy of Sciences 908:208-218.
De Benedictis, G., Rose, G., Carrieri, G., De Luca, M., Falcone, E., Passarino, G., Bonafe, M., Monti, D., Baggio, G., Bertolini, S., Mari, D., Mattace, R. and Franceschi, C. (1999). "Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans." FASEB Journal 13(12):1532-1536.
De Coo, I. F., Gussinklo, T., Arts, P. J., Van Oost, B. A. and Smeets, H. J. (1997). "A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples." Journal of the Neurological Sciences 149(1):37-40.
de Coo, I. F., Renier, W. O., Ruitenbeek, W., Ter Laak, H. J., Bakker, M., Schagger, H., Van Oost, B. A. and Smeets, H. J. (1999). "A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome." Annals of Neurology 45(1):130-133.
de Coo, I. F., Sistermans, E. A., de Wijs, I. J., Catsman-Berrevoets, C., Busch, H. F., Scholte, H. R., de Klerk, J. B., van Oost, B. A. and Smeets, H. J. (1998). "A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes." Neurology 50(1):293-295.
de Coo, I. F., Smeets, H. J., Gabreels, F. J., Arts, N. and van Oost, B. A. (1996). "Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation." American Journal of Human Genetics 58(3):636-638.
de Coo, R. F., Buddiger, P., Smeets, H. J. and van Oost, B. A. (1997). "Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3)." Genomics 45(2):434-437.
de Coo, R., Buddiger, P., Smeets, H., van Kessel, A. G., Morgan-Hughs, J., Weghuis, D. O., Overhauser, J. and van Oost, B. (1995). "Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene." Genomics 26(3):461-466.
de Haas, R., Das, D., Garanto, A., Renkema, H. G., Greupink, R., van den Broek, P., Pertijs, J., Collin, R. W. J., Willems, P., Beyrath, J., Heerschap, A., Russel, F. G. and Smeitink, J. A. (2017). "Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease." Scientific Reports 7(1):11733.
de Grey, A. D. (1997). "A proposed refinement of the mitochondrial free radical theory of aging." Bioessays 19(2):161-166.
de Grey, A. D. (2009). "How is mutant mitochondrial DNA clonally amplified? Much new evidence, still no answers." Rejuvenation Research 12(3):217-219.
de Knijff, P., Kayser, M., Caglia, A., Corach, D., Fretwell, N., et al. (1997). "Chromosome Y microsatellites: population genetic and evolutionary aspects." International Journal of Legal Medicine 110(3):134-149.
de Laat, P., Rodenburg, R. R., Roeleveld, N., Koene, S., Smeitink, J. A. and Janssen, M. C. (2021). "Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant." Journal of Medical Genetics 58(1):48-55.
de Laat, P., Smeitink, J. A., Janssen, M. C., Keunen, J. E. and Boon, C. J. (2013). "Mitochondrial retinal dystrophy associated with the m.3243A>G mutation." Ophthalmology 120(12):2684-2696.
De Luise, M., Guarnieri, V., Ceccarelli, C., D'Agruma, L., Porcelli, A. M. and Gasparre, G. (2019). "A nonsense mitochondrial DNA mutation associates with dysfunction of HIF1alpha in a Von Hippel-Lindau renal oncocytoma." Oxidative Medicine and Cellular Longevity 2019:8069583.
de Magalhaes, J. P. (2005). "Human disease-associated mitochondrial mutations fixed in nonhuman primates." Journal of Molecular Evolution 61(4):491-497.
De Meirleir, L., Seneca, S., Lissens, W., Schoentjes, E. and Desprechins, B. (1995). "Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene." Pediatric Neurology 13(3):242-246.
De Paepe, B., De Bleecker, J. L. and Van Coster, R. (2009). "Histochemical methods for the diagnosis of mitochondrial diseases." Current Protocols in Human Genetics Chapter 19:Unit 19.12.
de Pinto, B., Malladi, S. B. and Altamura, N. (1999). "MitBASE pilot: a database on nuclear genes involved in mitochondrial biogenesis and its regulation in Saccharomyces cerevisiae." Nucleic Acids Research 27(1):147-149.
De Praeter, C., Vanlander, A., Vanhaesebrouck, P., Smet, J., Seneca, S., De Sutter, P. and Van Coster, R. (2015). "Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions." European Journal of Pediatrics 174(2):267-270.
de Quay, B., Malinverni, R. and Lauterburg, B. H. (1992). "Glutathione depletion in HIV-infected patients: role of cysteine deficiency and effect of oral N-acetylcysteine." AIDS 6(8):815-819.
de Saint Pierre, M., Bravi, C. M., Motti, J. M., Fuku, N., Tanaka, M., Llop, E., Bonatto, S. L. and Moraga, M. (2012). "An alternative model for the early peopling of southern South America revealed by analyses of three mitochondrial DNA haplogroups." PLoS ONE 7(9):e43486.
de Souza Menezes, J., de Almeida Drummond Franklin, D., Seki, H. and Rumjanek, F. D. (2003). "Single-strand conformation polymorphism of hyper-variable regions HV1 and HV2 of human mitochondrial DNA: detection by silver staining." Forensic Science International 133(3):242-245.
de Sury, R., Martinez, P., Procaccio, V., Lunardi, J. and Issartel, J.-P. (1998). "Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase." Gene 215(1):1-10.
De Vivo, D. C. (1992). "Mitochondrial DNA defects: clinical features." In Mitochondrial DNA in Human Pathology: 39-52; N.Y., Raven Press. DiMauro, S. and Wallace, D. C., Eds.
De Vries, D. D., Buzing, C. J. M., Ruitenbeek, W., van de Wouw, M. P. M. E., Sperl, W., Sengers, R. C. A., Trijbels, J. M. F. and van Oost, B. A. (1992). "Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome." Neuromuscular Disorders 2(3):185-195.
De Vries, D. D., De Wijs, I. J., Wolff, G., Ketelsen, U. P., Ropers, H. H. and Van Oost, B. A. (1993). "X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder." Human Genetics 91(1):51-54.
De Vries, D. D., Van Engelen, B. G., Gabreels, F. J., Ruitenbeek, W. and Van Oost, B. A. (1993). "A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome." Annals of Neurology 34(3):410-412.
De Vries, D. D., Went, L. N., Bruyn, G. W., Scholte, H. R., Hofstra, R. M., Bolhuis, P. A. and van Oost, B. A. (1996). "Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia." American Journal of Human Genetics 58(4):703-711.
De Vries, D., De Wijs, I., Ruitenbeek, W., Begeer, J., Smit, P., Bentlage, H. and van Oost, B. (1994). "Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation." Journal of the Neurological Sciences 124(1):77-82.
De Vries, M. C., Rodenburg, R. J., Morava, E., van Kaauwen, E. P., Ter Laak, H., Mullaart, R. A., Snoeck, I. N., van Hasselt, P. M., Harding, P., van den Heuvel, L. P. and Smeitink, J. A. (2006). "Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations." European Journal of Pediatrics.
De, S. (2011). "Somatic mosaicism in healthy human tissues." Trends in Genetics 27(6):217-223.
DeBenedictis, G., Rose, G., Caccio, S., Picardi, P. and Quagliariello, C. (1989). "Mitochondrial DNA polymorphism in Calabria (southern Italy)." Gene Geography 3(1):33-40.
DeBenedictis, G., Rose, G., Passarino, G. and Quagliariello, C. (1989). "Restriction fragment length polymorphism of human mitochondrial DNA in a sample population from Apulia (southern Italy)." Annals of Human Genetics 53:311-318.
Debray, F. G., Lambert, M., Allard, P. and Mitchell, G. A. (2010). "Low citrulline in Leigh Disease: still a biomarker of maternally inherited Leigh Syndrome." Journal of Child Neurology 25(8):1000-1002.
Debray, F. G., Lambert, M., Chevalier, I., Robitaille, Y., Decarie, J. C., Shoubridge, E. A., Robinson, B. H. and Mitchell, G. A. (2007). "Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases." Pediatrics 119(4):722-733.
Debray, F. G., Lambert, M., Lortie, A., Vanasse, M. and Mitchell, G. A. (2007). "Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation." American Journal of Medical Genetics 143A(17):2046-2051.
Degli Esposti, M. (1998). "Inhibitors of NADH-ubiquinone reductase: an overview." Biochimica et Biophysica Acta 1364(2):222-235.
Degli Esposti, M. and Ghelli, A. (1994). "The mechanism of proton and electron transport in mitochondrial complex I." Biochimica et Biophysica Acta 1187(2):116-120.
Degli Esposti, M., Carelli, V., Ghelli, A., Ratta, M., Crimi, M., Sangiorgi, S., Montagna, P., Lenaz, G., Lugaresi, E. and Cortelli, P. (1994). "Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy." FEBS Letters 352(3):375-379.
Degli Esposti, M., DeVries, S., Crimi, M., Ghelli, A., Patarnello, T. and Meyer, A. (1993). "Mitochondrial cytohrome b: evolution and structure of the protein." Biochimica et Biophysica Acta 1143:243-271.
Degli Esposti, M., Ngo, A., Ghelli, A., Benelli, B., Carelli, V., McLennan, H. and Linnane, A. W. (1996). "The interaction of Q analogs, particularly hydroxydecyl benzoquinone (idebenone), with the respiratory complexes of heart mitochondria." Archives of Biochemistry and Biophysics 330(2):395-400.
Degoul, F., Brule, H., Cepanec, C., Helm, M., Marsac, C., Leroux, J., Giege, R. and Florentz, C. (1998). "Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene." Human Molecular Genetics 7(3):347-354.
Degoul, F., Diry, M., Pou-Serradell, A., Lloreta, J. and Marsac, C. (1994). "Myo-leukoencephalopathy in twins: study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation." Annals of Neurology 35(3):365-370.
Degoul, F., Diry, M., Rodriguez, D., Robain, O., Francois, D., Ponsot, G., Marsac, C. and Desguerre, I. (1995). "Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation." Journal of Inherited Metabolic Disease 18(6):682-688.
Degoul, F., Francois, D., Diry, M., Ponsot, G., Desguerre, I., Heron, B., Marsac, C. and Moutard, M. L. (1997). "A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues." Journal of Inherited Metabolic Disease 20(1):49-53.
Degoul, F., Nelson, I., Amselem, S., Romero, N., Obermaier-Kusser, B., Ponsot, G., Marsac, C. and Lestienne, P. (1991). "Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies." Nucleic Acids Research 19(3):493-496.
Degoul, F., Nelson, I., Lestienne, P., Francois, D., Romero, N., Duboc, D., Eymard, B., Fardeau, M., Ponsot, G., Paturneau-Jouas, M., Chaussain, M., Leroux, J. P. and Marsac, C. (1991). "Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies." Journal of the Neurological Sciences 101(2):168-177.
Deichmann, M., Kahle, B., Benner, A., Thome, M., Helmke, B. and Naher, H. (2004). "Somatic mitochondrial mutations in melanoma resection specimens." International Journal of Oncology 24(1):137-141.
Dekker, P. J., Ryan, M. T., Brix, J., Muller, H., Honlinger, A. and Pfanner, N. (1998). "Preprotein translocase of the outer mitochondrial membrane: molecular dissection and assembly of the general import pore complex." Molecular and Cellular Biology 18(11):6515-6524.
del Arco, A. and Satrustegui, J. (1998). "Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain." Journal of Biological Chemistry 273(36):23327-23334.
Del Bo, R., Bordoni, A., Boneschi, F. M., Crimi, M., Sciacco, M., Bresolin, N., Scarlato, G. and Comi, G. P. (2002). "Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients." Journal of the Neurological Sciences 202(1-2):85-91.
Del Bo, R., Bordoni, A., Sciacco, M., Di Fonzo, A., Galbiati, S., Crimi, M., Bresolin, N. and Comi, G. P. (2003). "Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain." Neurology 61(7):903-908.
Del Bo, R., Comi, G. P., Perini, M. P., Strazzer, S., Bresolin, N. and Scarlato, G. (2001). "Down's syndrome fibroblasts anticipate the accumulation of specific ageing-related mtDNA mutations." Annals of Neurology 49(1):137-138.
Del Bo, R., Crimi, M., Sciacco, M., Malferrari, G., Bordoni, A., Napoli, L., Prelle, A., Biunno, I., Moggio, M., Bresolin, N., Scarlato, G. and Pietro Comi, G. (2003). "High mutational burden in the mtDNA control region from aged muscles: a single-fiber study." Neurobiology of Aging 24(6):829-838.
Del Bo, R., Sciacco, M., Crimi, M., Napoli, L., Bresolin, N., Scarlato, G. and Comi, G. P. (2001). "Somatic ageing-related mutations in the human mtDNA control region from normal muscles: a single-fiber study." Mitochondrion 1(Suppl 1):S44.
del Castillo, F. J., Rodriguez-Ballesteros, M., Martin, Y., Arellano, B., Gallo-Teran, J., Morales-Angulo, C., Ramirez-Camacho, R., Cruz Tapia, M., Solanellas, J., Martinez-Conde, A., Villamar, M., Moreno-Pelayo, M. A., Moreno, F. and del Castillo, I. (2003). "Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss." Journal of Medical Genetics 40(8):632-636.
del Castillo, F. J., Villamar, M., Moreno-Pelayo, M. A., Almela, J. J., Morera, C., Adiego, I., Moreno, F. and del Castillo, I. (2002). "Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene." Journal of Medical Genetics 39(12):e82.
Del Mar O'Callaghan, M., Emperador, S., Lopez-Gallardo, E., Jou, C., Bujan, N., Montero, R., Garcia-Cazorla, A., Gonzaga, D., Ferrer, I., Briones, P., Ruiz-Pesini, E., Pineda, M., Artuch, R. and Montoya, J. (2012). "New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset". Neurogenetics 13(3):245-250.
Delfin, F., Min-Shan Ko, A., Li, M., Gunnarsdottir, E. D., Tabbada, K. A., Salvador, J. M., Calacal, G. C., Sagum, M. S., Datar, F. A., Padilla, S. G., De Ungria, M. C. and Stoneking, M. (2014). "Complete mtDNA genomes of Filipino ethnolinguistic groups: a melting pot of recent and ancient lineages in the Asia-Pacific region". European Journal of Human Genetics 22(2):228-237.
Delsite, R. L., Rasmussen, L. J., Rasmussen, A. K., Kalen, A., Goswami, P. C. and Singh, K. K. (2003). "Mitochondrial impairment is accompanied by impaired oxidative DNA repair in the nucleus." Mutagenesis 18(6):497-503.
DeMaster, E. G., Kaplan, E. and Chesler, E. (1981). "The differential response of tissue catalase activity to chronic alcohol administration in the rat." Alcoholism: Clinical and Experimental Research 5(1):45-48.
Denaro, M., Blanc, H., Johnson, M. J., Chen, K. H., Wilmsen, E., Cavalli Sforza, L. L. and Wallace, D. C. (1981). "Ethnic variation in Hpa 1 endonuclease cleavage patterns of human mitochondrial DNA." Proceedings of the National Academy of Sciences of the United States of America 78(9):5768-5772.
Deng, J. H., Li, Y., Park, J. S., Wu, J., Hu, P., Lechleiter, J. and Bai, Y. (2006). "Nuclear suppression of mitochondrial defects in cells without the ND6 subunit." Molecular and Cellular Biology 26(3):1077-1086.
Dent, K. M., Kenneson, A., Palumbos, J. C., Maxwell, S., Eichwald, J., White, K., Mao, R., Bale, J. F., Jr. and Carey, J. C. (2004). "Methodology of a multistate study of congenital hearing loss: preliminary data from Utah newborn screening." American Journal of Medical Genetics. 125C(1):28-34.
Derbeneva, O. A., Starikovskaia, E. B., Volod'ko, N. V., Wallace, D. C. and Sukernik, R. I. (2002). "[Mitochondrial DNA variation in Kets and Nganasans and the early peoples of Northern Eurasia]." Genetika (Russian Journal of Genetics) 38(11):1554-1560.
Derbeneva, O. A., Starikovskaya, E. B., Wallace, D. C. and Sukernik, R. I. (2002). "Traces of early Eurasians in the Mansi of northwest Siberia revealed by mitochondrial DNA analysis." American Journal of Human Genetics 70(4):1009-1014.
Derbeneva, O. A., Sukernik, R. I., Volodko, N. V., Hosseini, S. H., Lott, M. T. and Wallace, D. C. (2002). "Analysis of mitochondrial DNA diversity in the Aleuts of the Commander Islands and its implications for the genetic history of Beringia." American Journal of Human Genetics 71(2):415-421.
Derenko, M. V., Grzybowski, T., Malyarchuk, B. A., Czarny, J., Miscicka-Sliwka, D. and Zakharov, I. A. (2001). "The presence of mitochondrial haplogroup x in Altaians from South Siberia." American Journal of Human Genetics 69(1):237-241.
Derenko, M. V., Grzybowski, T., Malyarchuk, B. A., Dambueva, I. K., Denisova, G. A., Czarny, J., Dorzhu, C. M., Kakpakov, V. T., Miscicka-Sliwka, D., Wozniak, M. and Zakharov, I. A. (2003). "Diversity of mitochondrial DNA lineages in south Siberia." Annals of Human Genetics 67(5):391-411.
Derenko, M. V., Malyarchuk, B. A., Dambueva, I. K., Shaikhaev, G. O., Dorzhu, C. M., Nimaev, D. D. and Zakharov, I. A. (2000). "Mitochondrial DNA variation in two South Siberian Aboriginal populations: implications for the genetic history of North Asia." Human Biology 72(6):945-973.
Derenko, M., Malyarchuk, B., Denisova, G., Perkova, M., Rogalla, U., Grzybowski, T., Khusnutdinova, E., Dambueva, I. and Zakharov, I. (2012). "Complete mitochondrial DNA analysis of eastern Eurasian haplogroups rarely found in populations of northern Asia and eastern Europe". PLoS ONE 7(2):e32179.
Derenko, M., Malyarchuk, B., Grzybowski, T., Denisova, G., Dambueva, I., Perkova, M., Dorzhu, C., Luzina, F., Lee, H. K., Vanecek, T., Villems, R. and Zakharov, I. (2007). "Phylogeographic analysis of mitochondrial DNA in northern Asian populations." American Journal of Human Genetics 81(5):1025-1041.
Derenko, M., Malyarchuk, B., Grzybowski, T., Denisova, G., Rogalla, U., Perkova, M., Dambueva, I. and Zakharov, I. (2010). "Origin and post-glacial dispersal of mitochondrial DNA haplogroups C and D in northern Asia". PLoS ONE 5(12):e15214.
DeRisi, J. L., Iyer, V. R. and Brown, P. O. (1997). "Exploring the metabolic and genetic control of gene expression on a genomic scale." Science 278(5338):680-686.
DeRisi, J., Penland, L., Brown, P. O., Bittner, M. L., Meltzer, P. S., Ray, M., Chen, Y., Su, Y. A. and Trent, J. M. (1996). "Use of a cDNA microarray to analyse gene expression patterns in human cancer." Nature Genetics 14(4):457-460.
Dermaut, B., Seneca, S., Dom, L., Smets, K., Ceulemans, L., Smet, J., De Paepe, B., Tousseyn, S., Weckhuysen, S., Gewillig, M., Pals, P., Parizel, P., De Bleecker, J. L., Boon, P., De Meirleir, L., De Jonghe, P., Van Coster, R., Van Paesschen, W. and Santens, P. (2010). "Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C." Journal of Neurology, Neurosurgery and Psychiatry 81(1):90-93.
DeRose, J. J., Jr., Banas, J. S., Jr. and Winters, S. L. (1994). "Current perspectives on sudden cardiac death in hypertrophic cardiomyopathy." Progress in Cardiovascular Diseases 36(6):475-484.
Deschauer, M., Bamberg, C., Claus, D., Zierz, S., Turnbull, D. M. and Taylor, R. W. (2003). "Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA." Neurology 60(8):1357-1359.
Deschauer, M., Chinnery, P. F., Schaefer, A. M., Turnbull, D. M., Taylor, R. W., Zierz, S., Shanske, S., DiMauro, S., Majamaa, K., Wilichowski, E. and Thorburn, D. R. (2004). "No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation." Journal of Neurology, Neurosurgery and Psychiatry 75(8):1204-1205.
Deschauer, M., Krasnianski, A., Zierz, S. and Taylor, R. W. (2004). "False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by Southern blot analysis: the role of neutral polymorphisms". Genetic Testing 8(4):395-399.
Deschauer, M., Muller, T., Wieser, T., Schulte-Mattler, W., Kornhuber, M. and Zierz, S. (2001). "Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation." Archives of Neurology 58(11):1885-1888.
Deschauer, M., Swalwell, H., Strauss, M., Zierz, S. and Taylor, R. W. (2006). "Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease." Archives of Neurology 63(6):902-905.
Deschauer, M., Wieser, T., Neudecker, S., Lindner, A. and Zierz, S. (1999). "Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness." Neuromuscular Disorders 9(5):305-307.
Desguerre, I., Pinton, F., Nabbout, R., Moutard, M. L., N'Guyen, S., Marsac, C., Ponsot, G. and Dulac, O. (2003). "Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation." Neuropediatrics 34(5):265-269.
Desjardins, P. and Morais, R. (1990). "Sequence and gene organization of the chicken mitochondrial genome. A novel gene order in higher vertebrates." Journal of Molecular Biology 212(4):599-634.
Desjardins, P., de Muys, J. M. and Morais, R. (1986). "An established avian fibroblast cell line without mitochondrial DNA." Somatic Cell Genetics 12(2):133-139.
Desjardins, P., Frost, E. and Morais, R. (1985). "Ethidium bromide-induced loss of mitochondrial DNA from primary chicken embryo fibroblasts." Molecular and Cellular Biology 5(5):1163-1169.
Desquiret-Dumas, V., Gueguen, N., Barth, M., Chevrollier, A., Hancock, S., Wallace, D. C., Amati-Bonneau, P., Henrion, D., Bonneau, D., Reynier, P. and Procaccio, V. (2012). "Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS." Biochimica et Biophysica Acta 1822(6):1019-1029.
Destiarani, W., Mulyani, R., Yusuf, M. and Maksum, I. P. (2020). "Molecular dynamics simulation of T10609C and C10676G mutations of mitochondrial ND4L gene associated with proton translocation in type 2 diabetes mellitus and cataract patients." Bioinformatics and Biology Insights 14:1177932220978672.
Dey, R., Barrientos, A. and Moraes, C. T. (2000). "Functional constraints of nuclear-mitochondrial DNA interactions in xenomitochondrial rodent cell lines." Journal of Biological Chemistry 275(40):31520-31527.
Dey, R., Tengan, C. H., Morita, M. P., Kiyomoto, B. H. and Moraes, C. T. (2000). "A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop." Neuromuscular Disorders 10(7):488-492.
Di Fonzo, A., Bordoni, A., Crimi, M., Sara, G., Del Bo, R., Bresolin, N. and Comi, G. P. (2003). "POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions." Human Mutation 22(6):498-499.
Di Meo, S. and Venditti, P. (2001). "Mitochondria in exercise-induced oxidative stress." Biological Signals and Receptors 10(1-2):125-140.
Di Rienzo, A. and Wilson, A. C. (1991). "Branching pattern in the evolutionary tree for human mitochondrial DNA." Proceedings of the National Academy of Sciences of the United States of America 88(5):1597-1601.
Diaz, F., Bayona-Bafaluy, M. P., Rana, M., Mora, M., Hao, H. and Moraes, C. T. (2002). "Human mitochondrial DNA with large deletions repopulates organelles faster than full-length genomes under relaxed copy number control". Nucleic Acids Research 30(21):4626-4633.
Díaz-Matallan, M. and Martinez-Cruzado, J. C. (2010). "Estudios sobre ADN mitocondrial sugieren un linaje predominante en la cordillera Oriental de Colombia y un vínculo suramericano para los arcaicos de Puerto Rico [Mitochondrial DNA studies suggest a predominant lineage in the Eastern Cordillera of Colombia and a South American link for the archaics of Puerto Rico]" Univ. Méd. Bogotá (Colombia) 51(3):241-272.
Díaz-Matallana, M., Gómez, A., Briceño, I. and Rodríguez, J. V. (2016). "Genetic analysis of Paleo-Colombians from Nemocón, Cundinamarca provides insights on the early peopling of northwestern South America." Revista de la Academia Colombiana de Ciencias Exactas, Fisicas y Naturales 40(156):461-483.
DiDonato, S., Zeviani, M., Giovannini, P., Savarese, N., Rimoldi, M., Mariotti, C., Girotti, F. and Caraceni, T. (1993). "Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients." Neurology 43(11):2262-2268.
Diehl, S., Vernazza, P., Trein, A., Schnaitmann, E., Grimbacher, B., Setzer, B. and Walker, U. A. (2003). "Mitochondrial DNA and sperm quality in patients under antiretroviral therapy." Aids 17(3):450-451.
Dietz, H. C. (1997). "Nonsense mutations and altered splice-site selection." American Journal of Human Genetics 60(3):729-730.
Dietz, H. C. and Kendzior, R. J., Jr. (1994). "Maintenance of an open reading frame as an additional level of scrutiny during splice site selection." Nature Genetics 8(2):183-188.
Diez-Sanchez, C., Ruiz-Pesini, E., Lapena, A. C., Montoya, J., Perez-Martos, A., Enriquez, J. A. and Lopez-Perez, M. J. (2003). "Mitochondrial DNA content of human spermatozoa." Biology of Reproduction 68(1):180-185.
DiFrancesco, J. C., Cooper, J. M., Lam, A., Hart, P. E., Tremolizzo, L., Ferrarese, C. and Schapira, A. H. (2008). "MELAS mitochondrial DNA mutation A3243G reduces glutamate transport in cybrids cell lines." Experimental Neurology 212(1):152-156.
DiMauro, S. (1993). "Mitochondrial encephalomyopathies." In The Molecular and Genetic Basis of Neurological Disease: 665-694; Stoneham, MA, Butterworth-Heinemann. Rosenberg, Prusiner, S. B., DiMauro, S., Barchi, R. L. and Kunkel, L. M., Eds.
DiMauro, S. (1993). "Mitochondrial involvement in Parkinson's disease: the controversy continues [editorial comment]." Neurology 43(11):2170-2172.
DiMauro, S. (1998). "Mitochondrial diseases: clinical considerations." Biofactors 7(3):277-285.
DiMauro, S. (1999). "Mitochondrial encephalomyopathies: back to Mendelian genetics [editorial; comment]." Annals of Neurology 45(6):693-694.
DiMauro, S. (2004). "Mitochondrial medicine." Biochimica et Biophysica Acta 1659(2-3):107-114.
DiMauro, S. (2010). "Pathogenesis and treatment of mitochondrial myopathies: recent advances." Acta Myologia 29(2):333-338.
DiMauro, S. (2019). "A brief history of mitochondrial pathologies." International Journal of Molecular Sciences 20(22).
DiMauro, S. and Andreu, A. L. (2000). "Mutations in mtDNA: are we scraping the bottom of the barrel?" Brain Pathology 10(3):431-441.
Dimauro, S. and Davidzon, G. (2005). "Mitochondrial DNA and disease." Annals of Medicine 37(3):222-232.
DiMauro, S. and De Vivo, D. C. (1996). "Genetic heterogeneity in Leigh syndrome [editorial]." Annals of Neurology 40(1):5-7.
DiMauro, S. and Gurgel-Giannetti, J. (2005). "The expanding phenotype of mitochondrial myopathy." Current Opinion in Neurology 18(5):538-542.
DiMauro, S. and Hirano, M. (1998). "Mitochondria and heart disease." Current Opinion in Cardiology 13(3):190-197.
Dimauro, S. and Hirano, M. (2006). "Pedaling from genotype to phenotype." Archives of Neurology 63(12):1679-1680.
DiMauro, S. and Mancuso, M. (2007). "Mitochondrial diseases: therapeutic approaches." Bioscience Reports 27(1-3):125-137.
DiMauro, S. and Moraes, C. T. (1993). "Mitochondrial encephalomyopathies." Archives of Neurology 50(11):1197-1208.
DiMauro, S. and Schon, E. A. (1998). "Nuclear power and mitochondrial disease." Nature Genetics 19(3):214-215.
DiMauro, S. and Schon, E. A. (2001). "Mitochondrial DNA mutations in human disease." American Journal of Medical Genetics 106(1):18-26.
DiMauro, S. and Schon, E. A. (2003). "Mitochondrial respiratory-chain diseases." New England Journal of Medicine 348(26):2656-2668.
DiMauro, S. and Tanji, K. (1997). "Mitochondrial disorders." Japanese Journal of Human Genetics 42(4):473-487.
DiMauro, S., Andreu, A. L. and De Vivo, D. C. (2002). "Mitochondrial disorders." Journal of Child Neurology 17(Suppl 3):3S35-33S45; discussion 33S46-33S47.
DiMauro, S., Andreu, A. L., Musumeci, O. and Bonilla, E. (2001). "Diseases of oxidative phosphorylation due to mtDNA mutations." Seminars in Neurology 21(3):251-260.
DiMauro, S., Bonilla, E., Davidson, M., Hirano, M. and Schon, E. A. (1998). "Mitochondria in neuromuscular disorders." Biochimica et Biophysica Acta 1366(1-2):199-210.
DiMauro, S., Bonilla, E., Zeviani, M., Nakagawa, M. and DeVivo, D. C. (1985). "Mitochondrial myopathies." Annals of Neurology 17(6):521-538.
DiMauro, S., Kulikova, R., Tanji, K., Bonilla, E. and Hirano, M. (1999). "Mitochondrial genes for generalized epilepsies." Advances in Neurolology 79:411-419.
DiMauro, S., Servidei, S., Zeviani, M., DiRocco, M., DeVivo, D. C., DiDonato, S., Uziel, G., Berry, K., Hoganson, G., Johnsen, S. D. and Johnson, P. C. (1987). "Cytochrome c oxidase deficiency in Leigh syndrome." Annals of Neurology 22(4):498-506.
DiMauro, S., Tanji, K., Bonilla, E., Pallotti, F. and Schon, E. A. (2002). "Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects." Muscle and Nerve 26(5):597-607.
DiMauro, S., Tay, S. and Mancuso, M. (2004). "Mitochondrial encephalomyopathies: diagnostic approach." Annals of the New York Academy of Sciences:217-231.
Dimitriadis, K., Leonhardt, M., Yu-Wai-Man, P., Kirkman, M. A., Korsten, A., De Coo, I. F., Chinnery, P. F. and Klopstock, T. (2014). "Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients." Orphanet Journal of Rare Diseases 9:158.
Dimmock, D., Tang, L. Y., Schmitt, E. S. and Wong, L. J. (2010). "Quantitative evaluation of the mitochondrial DNA depletion syndrome." Clinical Chemistry 56(7):1119-1127.
Dimopoulos, I. S. and Xu, M. (2017). "Re: Feuer et al.: Gene therapy for Leber hereditary optic neuropathy: initial results (Ophthalmology 2016;123:558-570)." Ophthalmology 124(3):e22.
Ding, Q., Kucharczyk, R., Zhao, W., Dautant, A., Xu, S., Niedzwiecka, K., Su, X., Giraud, M. F., Gombeau, K., Zhang, M., Xie, H., Zeng, C., Bouhier, M., di Rago, J. P., Liu, Z., Tribouillard-Tanvier, D. and Chen, H. (2020). "Case report: identification of a novel variant (m.8909T>C) of human mitochondrial ATP6 gene and its functional consequences on yeast ATP synthase." Life (Basel) 10(9):215.
Ding, Y. and Huang, J. (2016). "Is mitochondrial tRNA T7501C mutation associated with cardiovascular disease?" Mitochondrial DNA 27(1):205-208.
Ding, Y. and Leng, J. (2012). "Is mitochondrial tRNA Leu(UUR) 3291T>C mutation pathogenic?" Mitochondrial DNA 23(4):323-326.
Ding, Y. and Zhu, H. (2011). "The mitochondrial ND1 3308T>C mutation may not be associated with left ventricular hypertrabeculation/noncompaction". Cardiology 119(3):183; author reply 184-185.
Ding, Y., Leng, J. and Zheng, J. (2011). "Critical reassessment of a five-generation Chinese family carrying deafness-associated mitochondrial 1555A>G mutation". Acta Oto-Laryngologica 131(11):1239-1240.
Ding, Y., Li, Y., You, J., Yang, L., Chen, B., Lu, J. and Guan, M. X. (2009). "Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family". Journal of Genetics and Genomics (Yi Chuan Xue Bao) 36(4):241-250.
Ding, Y., Teng, Y. S., Zhuo, G. C., Xia, B. H. and Leng, J. H. (2019). "The mitochondrial tRNAHis G12192A mutation may modulate the clinical expression of deafness-associated tRNAThr G15927A mutation in a Chinese pedigree." Current Molecular Medicine 19(2):136-146.
Ding, Y., Teng, Y., Guo, Q. and Leng, J. (2022). "Mitochondrial tRNA(Gln) 4394C>T mutation may contribute to the clinical expression of 1555A>G-induced deafness." Genes (Basel) 13(10):1794.
Ding, Y., Xia, B. H., Zhang, C. J. and Zhuo, G. C. (2018). "Mitochondrial tRNA(Leu(UUR)) C3275T, tRNA(Gln) T4363C and tRNA(Lys) A8343G mutations may be associated with PCOS and metabolic syndrome." Gene 642:299-306.
Ding, Y., Xia, B. H., Zhuo, G. C., Zhang, C. J. and Leng, J. H. (2019). "Premature ovarian insufficiency may be associated with the mutations in mitochondrial tRNA genes." Endocrine Journal 66(1):81-88.
Ding, Y., Zhuo, G., Guo, Q. and Li, M. (2021). "Leber's hereditary optic neuropathy: the roles of mitochondrial transfer RNA variants." PeerJ 9:e10651.
Dinopoulos, A., Smeitink, J. and ter Laak, H. (2005). "Unusual features of mitochondrial degeneration in skeletal muscle of patients with nuclear complex I mutation." Acta Neuropathologica (Berlin) 110(2):199-202.
Dionisi-Vici, C., Seneca, S., Zeviani, M., Fariello, G., Rimoldi, M., Bertini, E. and De Meirleir, L. (1998). "Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene." Journal of Inherited Metabolic Disease 21(1):2-8.
Dionne, F. T., Turcotte, L., Thibault, M. C., Boulay, M. R., Skinner, J. S. and Bouchard, C. (1991). "Mitochondrial DNA sequence polymorphism, VO2 max, and response to endurance training." Medicine and Science in Sports and Exercise 23(2):177-185.
Dipierri, J. E., Alfaro, E., Martinez-Marignac, V. L., Bailliet, G., Bravi, C. M., Cejas, S. and Bianchi, N. O. (1998). "Paternal directional mating in two Amerindian subpopulations located at different altitudes in northwestern Argentina." Human Biology 70(6):1001-1010.
Diroma, M. A., Lubisco, P. and Attimonelli, M. (2016). "A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs." BMC Bioinformatics 17(Suppl 12):338.
Diroma, M. A., Varvara, A. S., Attimonelli, M., Pesole, G. and Picardi, E. (2020). "Investigating human mitochondrial genomes in single cells." Genes (Basel) 11(5).
Distelmaier, F., Koopman, W. J., van den Heuvel, L. P., Rodenburg, R. J., Mayatepek, E., Willems, P. H. and Smeitink, J. A. (2009). "Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease". Brain 132(Pt 4):833-842.
Ditta, G., Soderberg, K., Landy, F. and Scheffler, I. E. (1976). "The selection of Chinese hamster cells deficient in oxidative energy metabolism." Somatic Cell Genetics 2(4):331-344.
Divne, A. M., Rasten-Almqvist, P., Rajs, J., Gyllensten, U. and Allen, M. (2003). "Analysis of the mitochondrial genome in sudden infant death syndrome." Acta Paediatrica 92(3):386-388.
Dizdaroglu, M. (1994). "Chemical determination of oxidative DNA damage by gas chromatography-mass spectrometry." Methods in Enzymology 234:3-16.
DiZinno, J. A., Lord, W. D., Collins-Morton, M. B., Wilson, M. R. and Goff, M. L. (2002). "Mitochondrial DNA sequencing of beetle larvae (Nitidulidae: Omosita) recovered from human bone." Journal of Forensic Sciences 47(6):1337-1339.
Doble, A., Ferris, O., Burgevin, M. C., Menager, J., Uzan, A., Dubroeucq, M. C., Renault, C., Gueremy, C. and Le Fur, G. (1987). "Photoaffinity labeling of peripheral-type benzodiazepine-binding sites." Molecular Pharmacology 31(1):42-49.
Dobrowolski, S. F., Gray, J., Miller, T. and Sears, M. (2009). "Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling." Human Mutation (Online) 30(6):891-898.
Doda, J. N., Wright, C. T. and Clayton, D. A. (1981). "Elongation of displacement-loop strands in human mouse mitochondrial DNA is arrested near specific template sequences." Proceedings of the National Academy of Sciences of the United States of America 78(10):6116-6120.
Dogulu, C. F., Kansu, T., Seyrantepe, V., Ozguc, M., Topaloglu, H. and Johns, D. R. (2001). "Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population." Eye (London) 15(Pt 2):183-188.
Doke, M., Jeganathan, V., McLaughlin, J. P. and Samikkannu, T. (2021). "HIV-1 Tat and cocaine impact mitochondrial epigenetics: effects on DNA methylation." Epigenetics 16(9):980-999.
Dokrungkoon, T., Onsod, P., Areesirisuk, P., Rerkamnuaychoke, B., Vanikieti, K. and Chareonsirisuthigul, T. (2019). "Performance of the MLPA technique for detecting common mutations in Leber hereditary optic neuropathy." Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis 30(8):819-824.
Dolce, V., Fiermonte, G., Messina, A. and Palmieri, F. (1991). "Nucleotide sequence of a human heart cDNA encoding the mitochondrial phosphate carrier." DNA Sequence 2(2):133-135.
Dolce, V., Iacobazzi, V., Palmieri, F. and Walker, J. E. (1994). "The sequences of human and bovine genes of the phosphate carrier from mitochondria contain evidence of alternatively spliced forms." Journal of Biological Chemistry 269(14):10451-10460.
Doleris, L. M., Hill, G. S., Chedin, P., Nochy, D., Bellanne-Chantelot, C., Hanslik, T., Bedrossian, J., Caillat-Zucman, S., Cahen-Varsaux, J. and Bariety, J. (2000). "Focal segmental glomerulosclerosis associated with mitochondrial cytopathy." Kidney International 58(5):1851-1858.
Dombi, E., Diot, A., Morten, K., Carver, J., Lodge, T., Fratter, C., Ng, Y. S., Liao, C., Muir, R., Blakely, E. L., Hargreaves, I., Al-Dosary, M., Sarkar, G., Hickman, S. J., Downes, S. M., Jayawant, S., Yu-Wai-Man, P., Taylor, R. W. and Poulton, J. (2016). "The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy." Neurology 86(20):1921-1923.
Domenico, G., Vincenzo, M., Piervito, L., Claudia, N., Annalisa, L., Adelaide, C. M., Flavio, D. C., Gianandrea, P., Giovanni, B. A., Diego, M., Gabriele, S. and Michelangelo, M. (2023). "A multisystem mitochondrial disease caused by a novel MT-TL1 mtDNA variant: a case report." Journal of Neuromuscular Diseases 10(1):119-123.
Dominguez-Garrido, E., Martinez-Redondo, D., Martin-Ruiz, C., Gomez-Duran, A., Ruiz-Pesini, E., Madero, P., Tamparillas, M., Montoya, J., von Zglinicki, T., Diez-Sanchez, C. and Lopez-Perez, M. J. (2009). "Association of mitochondrial haplogroup J and mtDNA oxidative damage in two different North Spain elderly populations." Biogerontology 10(4):435-442.
Dong, H. L., Ma, Y., Li, Q. F., Du, Y. C., Yang, L., Chen, S. and Wu, Z. Y. (2019). "Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing." CNS Neuroscience and Therapeutics 25(1):21-29.
Dorner, G. and Mohnike, A. (1976). "Further evidence for a predominantly maternal transmission of maturity-onset type diabetes." Endokrinologie 68(1):121-124.
Dorner, G., Mohnike, A. and Steindel, E. (1975). "On possible genetic and epigenetic modes of diabetes transmission." Endokrinologie 66(2):225-227.
Dorner, G., Plagemann, A. and Reinagel, H. (1987). "Familial diabetes aggregation in type I diabetics: gestational diabetes an apparent risk factor for increased diabetes susceptibility in the offspring." Exp Clin Endocrinol 89(1):84-90.
Dorraj, G., Houshmand, M., Larijani, B., Majd, A., Hosseini, B., Montazeri, M. and Panahi, M. S. (2005). "Lack of association of mitochondrial A3243G tRNALeu mutation in Iranian patients with type 2 diabetes." Iranian Journal of Biotechnology 3(4):243-248.
Dougherty, F. E., Ernst, S. G. and Aprille, J. R. (1994). "Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)." Journal of Pediatrics 125(5 Pt 1):758-761.
Dowlati, M. A., Derakhshandeh-Peykar, P., Houshmand, M., Farhadi, M., Shojaei, A. and Bazzaz, J. T. (2013). "Novel human mitochondrial tRNA phe mutation in a patient with hearing impairment: a case study." Mitochondrial DNA 24(2):132-136.
Drexler, H., Hayoz, D., Munzel, T., Hornig, B., Just, H., Brunner, H. R. and Zelis, R. (1992). "Endothelial function in chronic congestive heart failure." American Journal of Cardiology 69(19):1596-1601.
Drugan, R. C. (1996). "Peripheral benzodiazepine receptors: molecular pharmacology to possible physiological significance in stress-induced hypertension." Clinical Neuropharmacology 19(6):475-496.
Drugan, R. C., Basile, A. S., Crawley, J. N., Paul, S. M. and Skolnick, P. (1987). ""Peripheral" benzodiazepine binding sites in the Maudsley reactive rat: selective decrease confined to peripheral tissues." Brain Research Bulletin 18(1):143-145.
Druzhyna, N., Nair, R. G., LeDoux, S. P. and Wilson, G. L. (1998). "Defective repair of oxidative damage in mitochondrial DNA in Down's syndrome." Mutation Research 409(2):81-89.
Dryomov, S. V., Nazhmidenova, A. M., Starikovskaya, E. B., Shalaurova, S. A., Rohland, N., Mallick, S., Bernardos, R., Derevianko, A. P., Reich, D. and Sukernik, R. I. (2021). "Mitochondrial genome diversity on the Central Siberian Plateau with particular reference to the prehistory of northernmost Eurasia." PLoS ONE 16(1):e0244228.
Dryomov, S. V., Starikovskaya, E. B., Nazhmidenova, A. M., Morozov, I. V. and Sukernik, R. I. (2020). "Genetic legacy of cultures indigenous to the Northeast Asian coast in mitochondrial genomes of nearly extinct maritime tribes." BMC Evolutionary Biology 20(1):83.
Du, H., Guo, L., Fang, F., Chen, D., Sosunov, A. A., McKhann, G. M., Yan, Y., Wang, C., Zhang, H., Molkentin, J. D., Gunn-Moore, F. J., Vonsattel, J. P., Arancio, O., Chen, J. X. and Yan, S. D. (2008). "Cyclophilin D deficiency attenuates mitochondrial and neuronal perturbation and ameliorates learning and memory in Alzheimer's disease." Nature Medicine 14(10):1097-1105.
Du, M., Wei, X., Xu, P., Xie, A., Zhou, X., Yang, Y., Li, D., Lyu, J. and Fang, H. (2020). "A novel mitochondrial m.14430A>G (MT-ND6, p.W82R) variant causes complex I deficiency and mitochondrial Leigh syndrome." Clinical Chemistry and Laboratory Medicine 58(11):1809-1817.
Du, P. J., Zhou, J. W., Jin, X. M., Li, X. W. and Wang, P. (2005). "[Study on five point mutations in mitochondrial DNA in patients with Leber's hereditary optic neuropathy]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22(6):675-678.
Du, W. D., Chen, G., Cao, H. M., Jin, Q. H., Liao, R. F., He, X. C., Chen, D. B., Huang, S. R., Zhao, H., Lv, Y. M., Tang, H. Y., Tang, X. F., Wang, Y. Q., Sun, S., Zhao, J. L. and Zhang, X. J. (2011). "A simple oligonucleotide biochip capable of rapidly detecting known mitochondrial DNA mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON)". Disease Markers 30(4):181-190.
Du, Y., Jiang, B., Li, K., Chen, Y. and He, J. (2013). "Leber hereditary optic neuropathy in a boy with fibrous boney dysplasia." Eye Science 28(1):48-50.
Du, Z. D., He, L., Tu, C., Guo, X. A., Yu, S., Liu, K. and Gong, S. (2019). "Mitochondrial DNA 3,860-bp deletion increases with aging in the auditory nervous system of C57BL/6J mice." ORL: Journal for Oto-Rhino-Laryngology and its Related Specialties 81(2-3):92-100.
Duan, M., Chen, L., Ge, Q., Lu, N., Li, J., Pan, X., Qiao, Y., Tu, J. and Lu, Z. (2019). "Evaluating heteroplasmic variations of the mitochondrial genome from whole genome sequencing data." Gene 699:145-154.
Duan, M., Tu, J. and Lu, Z. (2018). "Recent advances in detecting mitochondrial DNA heteroplasmic variations." Molecules 23(2):E323.
Duan, S. H., Ma, J. L., Yang, X. L. and Guo, Y. F. (2017). "Simultaneous multigene mutation screening using SNPscan in patients from ethnic minorities with nonsyndromic hearingimpairment in Northwest China." Molecular Medicine Reports 16(5):6722-6728.
Dubot, A., Godinot, C., Dumur, V., Sablonniere, B., Stojkovic, T., Cuisset, J. M., Vojtiskova, A., Pecina, P., Jesina, P. and Houstek, J. (2004). "GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene." Biochemical and Biophysical Research Communications 313(3):687-693.
Dubot, A., Hervouet, E., Mandon, G., Zabot, M. T. and Godinot, C. (2004). "Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis." Mitochondrion 4(1):41-47.
Dubowitz, V., Sewry, C. A. and Fitzsimons, R. B. (1985). Muscle Biopsy: A Practical Approach. London, Baillière Tindall.
Ducluzeau, P. H., Lachaux, A., Bouvier, R., Streichenberger, N., Stepien, G. and Mousson, B. (1999). "Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis." Journal of Hepatology 30(1):149-155.
Dufour, E., Terzioglu, M., Sterky, F. H., Sorensen, L., Galter, D., Olson, L., Wilbertz, J. and Larsson, N. G. (2008). "Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration." Human Molecular Genetics 17(10):1418-1426.
Duggan, A. T. and Stoneking, M. (2013). "A highly unstable recent mutation in human mtDNA". American Journal of Human Genetics 92(2):279-284.
Duggan, A. T., Whitten, M., Wiebe, V., Crawford, M., Butthof, A., Spitsyn, V., Makarov, S., Novgorodov, I., Osakovsky, V. and Pakendorf, B. (2013). "Investigating the prehistory of Tungusic peoples of Siberia and the Amur-Ussuri region with complete mtDNA genome sequences and Y-chromosomal markers". PLoS ONE 8(12):e83570.
Dulovic, M., Schaffer, E., Leypoldt, F., Balck, A., Schaake, S., Hinrichs, F., Kirchner, H., Bruggemann, N., Berg, D. and Lohmann, K. (2018). "A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members." Parkinsonism and Related Disorders 54:116-118.
Dumoulin, R., Sagnol, I., Ferlin, T., Bozon, D., Stepien, G. and Mousson, B. (1996). "A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance." Molecular and Cellular Probes 10(5):389-391.
Dunbar, D. R., Moonie, P. A., Jacobs, H. T. and Holt, I. J. (1995). "Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes." Proceedings of the National Academy of Sciences of the United States of America 92(14):6562-6566.
Dunbar, D. R., Moonie, P. A., Swingler, R. J., Davidson, D., Roberts, R. and Holt, I. J. (1993). "Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus." Human Molecular Genetics 2(10):1619-1624.
Dunbar, D. R., Shibasaki, Y., Dobbie, L., Andersson, B. and Brookes, A. J. (1997). "In situ hybridisation mapping of genomic clones for five human respiratory chain complex I genes." Cytogenetics and Cell Genetics 78(1):21-24.
Duncan, A. M., Anderson, L., Duff, C., Ozawa, T., Suzuki, H., Worton, R. and Rozen, R. (1994). "Assignment of the gene (UQCRFS1) for the Rieske iron-sulfur protein subunit of the mitochondrial cytochrome bc1 complex to the 22q13 and 19q12-q13.1 regions of the human genome." Genomics 21(1):281-283.
Duncan, A. M., Chow, W. and Robinson, B. H. (1992). "Localization of the human 75-kDal Fe-S protein of NADH-coenzyme Q reductase gene (NDUFS1) to 2q33----q34." Cytogenetics and Cell Genetics 60(3-4):212-213.
Duncan, A. M., Ozawa, T., Suzuki, H. and Rozen, R. (1993). "Assignment of the gene for the core protein II (UQCRC2) subunit of the mitochondrial cytochrome bc1 complex to human chromosome 16p12." Genomics 18(2):455-456.
Duncan, A. M., Ozawa, T., Suzuki, H. and Rozen, R. (1994). "Assignment of the gene for the cytochrome c1 subunit of the mitochondrial cytochrome bc1 complex (CYC1) to human chromosome 8q24.3." Genomics 19(2):400-401.
Duncan, E. L., Perrem, K. and Reddel, R. R. (2000). "Identification of a novel human mitochondrial D-loop RNA species which exhibits upregulated expression following cellular immortalization." Biochemical and Biophysical Research Communications 276(2):439-446.
Dunkley, P. R., Heath, J. W., Harrison, S. M., Jarvie, P. E., Glenfield, P. J. and Rostas, J. A. (1988). "A rapid Percoll gradient procedure for isolation of synaptosomes directly from an S1 fraction: homogeneity and morphology of subcellular fractions." Brain Research 441(1-2):59-71.
Dunn, D. A. and Pinkert, C. A. (2021). "Allotopic expression of ATP6 in mouse as a transgenic model of mitochondrial disease." Methods in Molecular Biology 2277:1-13.
Dunning, C. J., McKenzie, M., Sugiana, C., Lazarou, M., Silke, J., Connelly, A., Fletcher, J. M., Kirby, D. M., Thorburn, D. R. and Ryan, M. T. (2007). "Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease." EMBO Journal 26(13):3227-3237.
Duno, M., Wibrand, F., Baggesen, K., Rosenberg, T., Kjaer, N. and Frederiksen, A. L. (2013). "A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome." Gene 515(2):372-375.
Duong, N. T., Macholdt, E., Ton, N. D., Arias, L., Schroder, R., Van Phong, N., Thi Bich Thuy, V., Ha, N. H., Thi Thu Hue, H., Thi Xuan, N., Thi Phuong Oanh, K., Hien, L. T. T., Hoang, N. H., Pakendorf, B., Stoneking, M. and Van Hai, N. (2018). "Complete human mtDNA genome sequences from Vietnam and the phylogeography of Mainland Southeast Asia." Scientific Reports 8(1):11651.
Dupanloup, I., Bertorelle, G., Chikhi, L. and Barbujani, G. (2004). "Estimating the impact of prehistoric admixture on the genome of europeans." Molecular Biology and Evolution 21(7):1361-1372.
Dur, A., Huber, N. and Parson, W. (2021). "Fine-Tuning Phylogenetic Alignment and Haplogrouping of mtDNA Sequences." International Journal of Molecular Sciences 22(11):5747.
Durham, S. E., Krishnan, K. J., Betts, J. and Birch-Machin, M. A. (2003). "Mitochondrial DNA damage in non-melanoma skin cancer." British Journal of Cancer 88(1):90-95.
Duvezin-Caubet, S., Jagasia, R., Wagener, J., Hofmann, S., Trifunovic, A., Hansson, A., Chomyn, A., Bauer, M. F., Attardi, G., Larsson, N. G., Neupert, W. and Reichert, A. S. (2006). "Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphology." Journal of Biological Chemistry 281(49):37972-37979.
Duvoisin, R. C. (1998). "Role of genetics in the cause of Parkinson's disease." Movement Disorders 13(Suppl 1):7-12.
Dworkin, B. M. (1994). "Selenium deficiency in HIV infection and the acquired immunodeficiency syndrome (AIDS)." Chemico-Biological Interactions 91(2-3):181-186.
Dyer, M. R. and Walker, J. E. (1993). "Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase." Biochem J 293(Pt 1):51-64.
Dzinic, T. and Dencher, N. A. (2018). "Oxygen concentration and oxidative stress modulate the influence of Alzheimer's disease Abeta1-42 peptide on human cells." Oxidative Medicine and Cellular Longevity 2018:7567959.
Ealy, M., Lynch, K. A., Meyer, N. C. and Smith, R. J. (2011). "The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population". Laryngoscope 121(6):1184-1186.
Earley, F. G. and Ragan, C. (1984). "Photoaffinity labelling of mitochondrial NADH dehydrogenase with arylazidoamorphigenin, an analogue of rotenone." Biochem J 224:525-534.
Earley, G. P., Patel, S. D., Ragan, C. I. and Attardi, G. (1991). "Photolabelling of a mitochondrially encoded subunit of NADH dehydrogenase with [3H]dihydrorotenone." FEBS Letters 219(1):108-112.
Earnshaw, W. C. (1999). "Apoptosis. A cellular poison cupboard [news]." Nature 397(6718):387, 389.
Easton, R. D., Merriwether, D. A., Crews, D. E. and Ferrell, R. E. (1996). "mtDNA variation in the Yanomami: evidence for additional New World founding lineages." American Journal of Human Genetics 59(1):213-225.
Ebner, S., Lang, R., Mueller, E. E., Eder, W., Oeller, M., Moser, A., Koller, J., Paulweber, B., Mayr, J. A., Sperl, W. and Kofler, B. (2011). "Mitochondrial haplogroups, control region polymorphisms and malignant melanoma: a study in middle European Caucasians." PLoS ONE 6(12):e27192.
Echaniz-Laguna, A., Chanson, J. B., Wilhelm, J. M., Sellal, F., Mayencon, M., Mohr, M., Tranchant, C. and de Camaret, B. M. (2010). "A novel variation in the Twinkle linker region causing late-onset dementia." Neurogenetics 11(1):21-25.
Eck, H. P., Gmunder, H., Hartmann, M., Petzoldt, D., Daniel, V. and Droge, W. (1989). "Low concentrations of acid-soluble thiol (cysteine) in the blood plasma of HIV-1-infected patients." Biological Chemistry Hoppe Seyler 370(2):101-108.
Eckenweiler, M., Catarino, C. B., Gallenmueller, C., Klopstock, T., Lagreze, W. A., Korinthenberg, R. and Kirschner, J. (2015). "Mitochondrial DNA mutation 14487T>C manifesting as Leber's hereditary optic neuropathy." Journal of Neurology 262(12):2776-2779.
Edes, I., Toszegi, A., Csanady, M. and Bozoky, B. (1986). "Myocardial lipid peroxidation in rats after chronic alcohol ingestion and the effects of different antioxidants." Cardiovascular Research 20(7):542-548.
Editors, Japanese Journal of Ophthalmology (2021). "Characteristics of Japanese patients with Leber's hereditary optic neuropathy and idebenone trial: a prospective, interventional, non-comparative study." Japanese Journal of Ophthalmology 65:313–314.
Edmond, J. C. (2009). "Mitochondrial disorders." Int Ophthalmol Clin 49(3):27-33.
Efremov, R. G. and Sazanov, L. A. (2011). "Structure of the membrane domain of respiratory complex I". Nature 476(7361):414-420.
Efremov, R. G. and Sazanov, L. A. (2011). "Respiratory complex I: 'steam engine' of the cell?". Current Opinion in Structural Biology 21(4):532-540.
Efremov, R. G., Baradaran, R. and Sazanov, L. A. (2010). "The architecture of respiratory complex I." Nature 465(7297):441-445.
Ege, T., Krondahl, U. and Ringertz, N. R. (1974). "Introduction of nuclei and micronuclei into cells and enucleated cytoplasms by Sendai virus induced fusion." Experimental Cell Research 88(2):428-432.
Egeland, T., Bovelstad, H. M., Storvik, G. O. and Salas, A. (2004). "Inferring the most likely geographical origin of mtDNA sequence profiles." Annals of Human Genetics 68(Pt 5):461-471.
Egensperger, R., Kosel, S., Schnopp, N. M., Mehraein, P. and Graeber, M. B. (1997). "Association of the mitochondrial tRNA(A4336G) mutation with Alzheimer's and Parkinson's diseases." Neuropathology & Applied Neurobiology 23(4):315-321.
Egger, J. and Wilson, J. (1983). "Mitochondrial inheritance in a mitochondrially mediated disease." New England Journal of Medicine 309(3):142-146.
Eguchi, Y., Ewert, D. L. and Tsujimoto, Y. (1992). "Isolation and characterization of the chicken bcl-2 gene: expression in a variety of tissues including lymphoid and neuronal organs in adult and embryo." Nucleic Acids Research 20(16):4187-4192.
Eichhorn-Mulligan, K. and Cestari, D. M. (2008). "The genetics of leber hereditary optic neuropathy--prototype of an inherited optic neuropathy with mitochondrial dysfunction." Seminars in Ophthalmology 23(1):27-37.
Eicker, J., Kurten, V., Wild, S., Riss, G., Goralczyk, R., Krutmann, J. and Berneburg, M. (2003). "Betacarotene supplementation protects from photoaging-associated mitochondrial DNA mutation." Photochemical and Photobiological Sciences 2(6):655-659.
Eimon, P. M., Chung, S. S., Lee, C. M., Weindruch, R. and Aiken, J. M. (1996). "Age-associated mitochondrial DNA deletions in mouse skeletal muscle: comparison of different regions of the mitochondrial genome." Developmental Genetics 18(2):107-113.
Ekstrand, M. I., Terzioglu, M., Galter, D., Zhu, S., Hofstetter, C., Lindqvist, E., Thams, S., Bergstrand, A., Hansson, F. S., Trifunovic, A., Hoffer, B., Cullheim, S., Mohammed, A. H., Olson, L. and Larsson, N. G. (2007). "Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons." Proceedings of the National Academy of Sciences of the United States of America 104(4):1325-1330.
El-Hattab, A. W. (2017). "Letter to the Editor: "Unaltered L-arginine/NO pathway in a MELAS patient: Is mitochondrial NO synthase involved in the MELAS syndrome?"." International Journal of Cardiology 229:28.
el-Schahawi, M., Lopez de Munain, A., Sarrazin, A. M., Shanske, A. L., Basirico, M., Shanske, S. and DiMauro, S. (1997). "Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy." Neurology 48(2):453-456.
El Meziane, A., Lehtinen, S. K., Hance, N., Nijtmans, L. G., Dunbar, D., Holt, I. J. and Jacobs, H. T. (1998). "A tRNA suppressor mutation in human mitochondria." Nature Genetics 18(4):350-353.
El Meziane, A., Lehtinen, S. K., Holt, I. J. and Jacobs, H. T. (1998). "Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation." Human Molecular Genetics 7(13):2141-2147.
Elango, S., Venugopal, S., Thangaraj, K. and Viswanadha, V. P. (2014). "Novel mutations in ATPase 8, ND1 and ND5 genes associated with peripheral neuropathy of diabetes." Diabetes Research and Clinical Practice 103(3):e49-e52.
Eleff, S., Kennaway, N. G., Buist, N. R., Darley-Usmar, V. M., Capaldi, R. A., Bank, W. J. and Chance, B. (1984). "31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle." Proceedings of the National Academy of Sciences of the United States of America 81(11):3529-3533.
Elhassan, N., Gebremeskel, E. I., Elnour, M. A., Isabirye, D., Okello, J., Hussien, A., Kwiatksowski, D., Hirbo, J., Tishkoff, S. and Ibrahim, M. E. (2014). "The episode of genetic drift defining the migration of humans out of Africa is derived from a large east African population size." PLoS ONE 9(5):e97674.
Ellegren, H. (2003). "Levels of polymorphism on the sex-limited chromosome: a clue to Y from W?" Bioessays 25(2):163-167.
Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L. and Chinnery, P. F. (2008). "Pathogenic mitochondrial DNA mutations are common in the general population." American Journal of Human Genetics 83(2):254-260.
Ellison, J. W., Li, X., Francke, U. and Shapiro, L. J. (1996). "Rapid evolution of human pseudoautosomal genes and their mouse homologs." Mammalian Genome 7(1):25-30.
Ellison, J. W., Salido, E. C. and Shapiro, L. J. (1996). "Genetic mapping of the adenine nucleotide translocase-2 gene (Ant2) to the mouse proximal X chromosome." Genomics 36(2):369-371.
Ellouze, S., Augustin, S., Bouaita, A., Bonnet, C., Simonutti, M., Forster, V., Picaud, S., Sahel, J. A. and Corral-Debrinski, M. (2008). "Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction." American Journal of Human Genetics 83(3):373-387.
Elpeleg, O. (2003). "Inherited mitochondrial DNA depletion." Pediatric Research 54(2):153-159.
Elpeleg, O. N., Shaag, A., Glustein, J. Z., Anikster, Y., Joseph, A. and Saada, A. (1997). "Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence." Human Mutation 10(3):256-257.
Elpeleg, O., Mandel, H. and Saada, A. (2002). "Depletion of the other genome-mitochondrial DNA depletion syndromes in humans." Journal of Molecular Medicine 80(7):389-396.
Elpeleg, O., Miller, C., Hershkovitz, E., Bitner-Glindzicz, M., Bondi-Rubinstein, G., Rahman, S., Pagnamenta, A., Eshhar, S. and Saada, A. (2005). "Deficiency of the ADP-forming succinyl-CoA synthase activity Is associated with encephalomyopathy and mitochondrial DNA depletion." American Journal of Human Genetics 76(6):1081-1086.
Elson, J. L., Andrews, R. M., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M. and Howell, N. (2001). "Analysis of European mtDNAs for recombination." American Journal of Human Genetics 68(1):145-153.
Elson, J. L., Herrnstadt, C., Preston, G., Thal, L., Morris, C. M., Edwardson, J. A., Beal, M. F., Turnbull, D. M. and Howell, N. (2006). "Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?" Human Genetics 119(3):241-254.
Elson, J. L., Majamaa, K., Howell, N. and Chinnery, P. F. (2007). "Associating mitochondrial DNA variation with complex traits." American Journal of Human Genetics 80(2):378-382; author reply (Saxena et al) 382-383.
Elson, J. L., Samuels, D. C., Johnson, M. A., Turnbull, D. M. and Chinnery, P. F. (2002). "The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy." Neuromuscular Disorders 12(9):858-864.
Elson, J. L., Samuels, D. C., Turnbull, D. M. and Chinnery, P. F. (2001). "Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age." American Journal of Human Genetics 68(3):802-806.
Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W. and Turnbull, D. M. (2009). "Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?". Human Mutation 30(11):E984-992.
Elson, J. L., Sweeney, M. G., Procaccio, V., Yarham, J. W., Salas, A., Kong, Q. P., van der Westhuizen, F. H., Pitceathly, R. D., Thorburn, D. R., Lott, M. T., Wallace, D. C., Taylor, R. W. and McFarland, R. (2012). "Toward a mtDNA locus-specific mutation database using the LOVD platform". Human Mutation 33(9):1352-1358.
Elson, J. L., Turnbull, D. M. and Howell, N. (2004). "Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection." American Journal of Human Genetics 74(2):229-238.
Elstner, M., Schmidt, C., Zingler, V. C., Prokisch, H., Bettecken, T., Elson, J. L., Rudolph, G., Bender, A., Halmagyi, G. M., Brandt, T., Strupp, M. and Klopstock, T. (2008). "Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy." Biochemical and Biophysical Research Communications 377(2):379-383.
Elston, T., Wang, H. and Oster, G. (1998). "Energy transduction in ATP synthase." Nature 391(6666):510-513.
Emahazion, T. and Brookes, A. J. (1998). "Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping." Cytogenetics and Cell Genetics 82(1-2):114.
Emahazion, T., Beskow, A., Gyllensten, U. and Brookes, A. J. (1998). "Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain." Cytogenetics and Cell Genetics 82(1-2):115-119.
Emmanuele, V., Sotiriou, E., Rios, P. G., Ganesh, J., Ichord, R., Foley, A. R., Akman, H. O. and Dimauro, S. (2013). "A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome." Journal of Child Neurology 28(2):236-242.
Emmanuele, V., Sotiriou, E., Shirazi, M., Tanji, K., Haller, R. G., Heinicke, K., Bosch, P. E., Hirano, M. and DiMauro, S. (2011). "Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation". Journal of the Neurological Sciences 303(1-2):39-42.
Emperador, S., Vidal, M., Hernandez-Ainsa, C., Ruiz-Ruiz, C., Woods, D., Morales-Becerra, A., Arruga, J., Artuch, R., Lopez-Gallardo, E., Bayona-Bafaluy, M. P., Montoya, J. and Ruiz-Pesini, E. (2018). "The decrease in mitochondrial DNA mutation load parallels visual recovery in a Leber hereditary optic neuropathy patient." Frontiers in Neuroscience 12:61.
Endo, H., Matsuda, C. and Kagawa, Y. (1994). "Exclusion of an alternatively spliced exon in human ATP synthase gamma-subunit pre-mRNA requires de novo protein synthesis." Journal of Biological Chemistry 269(17):12488-12493.
Endres, D., Suss, P., Maier, S. J., Friedel, E., Nickel, K., Ziegler, C., Fiebich, B. L., Glocker, F. X., Stock, F., Egger, K., Lange, T., Dacko, M., Venhoff, N., Erny, D., Doostkam, S., Komlosi, K., Domschke, K. and Tebartz van Elst, L. (2019). "New variant of MELAS syndrome with executive dysfunction, heteroplasmic point mutation in the MT-ND4 gene (m.12015T>C; p.Leu419Pro) and comorbid polyglandular autoimmune syndrome type 2." Frontiers in Immunology 10:412.
Engvall, M., Kawasaki, A., Carelli, V., Wibom, R., Bruhn, H., Lesko, N., Schober, F. A., Wredenberg, A., Wedell, A. and Träisk, F. (2021). "Case report: a novel mutation in the mitochondrial MT-ND5 gene Is associated aith Leber hereditary optic neuropathy (LHON)." Frontiers in Neurology 12:391.
Enns, G. M., Bai, R. K., Beck, A. E. and Wong, L. J. (2006). "Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load." Molecular Genetics and Metabolism 88(4):364-371.
Enns, G. M., Kinsman, S. L., Perlman, S. L., Spicer, K. M., Abdenur, J. E., Cohen, B. H., Amagata, A., Barnes, A., Kheifets, V., Shrader, W. D., Thoolen, M., Blankenberg, F. and Miller, G. (2012). "Initial experience in the treatment of inherited mitochondrial disease with EPI-743." Molecular Genetics and Metabolism 105(1):91-102.
Enriquez, J. A. and Attardi, G. (1996). "Analysis of aminoacylation of human mitochondrial tRNAs." Methods in Enzymology 264:183-196.
Enriquez, J. A., Cabezas-Herrera, J., Bayona-Bafaluy, M. P. and Attardi, G. (2000). "Very rare complementation between mitochondria carrying different mitochondrial DNA mutations points to intrinsic genetic autonomy of the organelles in cultured human cells." Journal of Biological Chemistry 275(15):11207-11215.
Enriquez, J. A., Chomyn, A. and Attardi, G. (1995). "MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination." Nature Genetics 10(1):47-55.
Ensink, R. J., Huygen, P. L. and Cremers, C. W. (2002). "The clinical spectrum of maternally transmitted hearing loss." Advances in Oto Rhino Laryngology 61:172-183.
Ensink, R. J., Verhoeven, K., Marres, H. A., Huygen, P. L., Padberg, G. W., ter Laak, H., van Camp, G., Willems, P. J. and Cremers, C. W. (1998). "Early-onset sensorineural hearing loss and late-onset neurologic complaints caused by a mitochondrial mutation at position 7472." Archives of Otolaryngology -- Head & Neck Surgery 124(8):886-891.
Enter, C., Muller-Hocker, J., Zierz, S., Kurlemann, G., Pongratz, D., Forster, C., Obermaier-Kusser, B. and Gerbitz, K. D. (1991). "A specific point mutation in the mitochondrial genome of Caucasians with MELAS." Human Genetics 88(2):233-266.
Epstein, C. J., Avraham, K. B., Lovett, M., Smith, S., Elroy-Stein, O., Rotman, G., Bry, C. and Groner, Y. (1987). "Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome." Proceedings of the National Academy of Sciences of the United States of America 84(22):8044-8048.
Epstein, W., Wieczorek, L., Siebers, A. and Altendorf, K. (1984). "Potassium transport in Escherichia coli: genetic and biochemical characterization of the K+-transporting ATPase." Biochemical Society Transactions 12(2):235-236.
Erickson, C. E. and Castora, F. J. (1993). "PCR amplification using a single cell allows the detection of the mtDNA lesion associated with Leber's hereditary optic neuropathy." Biochimica et Biophysica Acta 1181(1):77-82.
Erickson, R. P. (1972). "Leber's optic atrophy, a possible example of maternal inheritance." American Journal of Human Genetics 24(3):348-349.
Ernst, B. P., Wilichowski, E., Wagner, M. and Hanefeld, F. (1994). "Deletion screening of mitochondrial DNA via multiprimer DNA amplification." Molecular and Cellular Probes 8(1):45-49.
Ernster, L. (1998). "Biochemical methods for diagnosis of mitochondrial cytopathies: introduction and perspectives." Biofactors 7(3):213-215.
Escubedo, E., Camins, A., Talaveron, C. and Camarasa, J. (1992). "Characterization of [3H]Ro 5-4864 binding sites in rat vas deferens." Journal of Neurochemistry 58(1):39-45.
Eshaghian, A., Vleugels, R. A., Canter, J. A., McDonald, M. A., Stasko, T. and Sligh, J. E. (2006). "Mitochondrial DNA deletions serve as biomarkers of aging in the skin, but are typically absent in nonmelanoma skin cancers." Journal of Investigative Dermatology 126(2):336-344.
Eshleman, J. A., Malhi, R. S., Johnson, J. R., Kaestle, F. A., Lorenz, J. and Smith, D. G. (2004). "Mitochondrial DNA and prehistoric settlements: native migrations on the western edge of North America." Human Biology 76(1):55-75.
Esposito, L. A., Kokoszka, J. E., Waymire, K. G., Cottrell, B., MacGregor, G. R. and Wallace, D. C. (2000). "Mitochondrial oxidative stress in mice lacking the glutathione peroxidase-1 gene." Free Radical Biology & Medicine 28(5):754-766.
Esposito, L. A., Melov, S., Panov, A., Cottrell, B. A. and Wallace, D. C. (1999). "Mitochondrial disease in mouse results in increased oxidative stress." Proceedings of the National Academy of Sciences of the United States of America 96(9):4820-4825.
Esteal, S. (1991). "The relative rate of DNA evolution in primates." Molecular Biology and Evolution 8:115-127.
Esteitie, N., Hinttala, R., Wibom, R., Nilsson, H., Hance, N., Naess, K., Tear-Fahnehjelm, K., von Dobeln, U., Majamaa, K. and Larsson, N. G. (2005). "Secondary metabolic effects in complex I deficiency". Annals of Neurology 58(4):544-552.
Estivill, X., Govea, N., Barcelo, E., Badenas, C., Romero, E., Moral, L., Scozzri, R., D'Urbano, L., Zeviani, M. and Torroni, A. (1998). "Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides [see comments]." American Journal of Human Genetics 62(1):27-35.
Esworthy, R. S., Doan, K., Doroshow, J. H. and Chu, F. F. (1994). "Cloning and sequencing of the cDNA encoding a human testis phospholipid hydroperoxide glutathione peroxidase." Gene 144(2):317-318.
Etcheberrigaray, R., Ito, E., Kim, C. S. and Alkon, D. L. (1994). "Soluble beta-amyloid induction of Alzheimer's phenotype for human fibroblast K+ channels." Science 264(5156):276-279.
Eto, K., Tsubamoto, Y., Terauchi, Y., Sugiyama, T., Kishimoto, T., Takahashi, N., Yamauchi, N., Kubota, N., Murayama, S., Aizawa, T., Akanuma, Y., Aizawa, S., Kasai, H., Yazaki, Y. and Kadowaki, T. (1999). "Role of NADH shuttle system in glucose-induced activation of mitochondrial metabolism and insulin secretion." Science 283(5404):981-985.
Eustace Ryan, S., Ryan, F., Barton, D., O'Dwyer, V. and Neylan, D. (2015). "Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients." Eye and Vision (London, England) 2:18.
Evans, M. J. and Scarpulla, R. C. (1988). "The human somatic cytochrome c gene: two classes of processed pseudogenes demarcate a period of rapid molecular evolution." Proceedings of the National Academy of Sciences of the United States of America 85(24):9625-9629.
Excoffier, L. and Yang, Z. (1999). "Substitution rate variation among sites in mitochondrial hypervariable region I of humans and chimpanzees." Molecular Biology and Evolution 16(10):1357-1368.
Eyre-Walker, A. and Awadalla, P. (2001). "Does human mtDNA recombine?" Journal of Molecular Evolution 53(4-5):430-435.
Eyre-Walker, A., Smith, N. H. and Smith, J. M. (1999). "How clonal are human mitochondria?" Proceedings of the Royal Society of London. Series B: Biological Sciences 266(1418):477-483.
Eyre-Walker, A., Smith, N. H. and Smith, J. M. (1999). "Reply to Macaulay et al (1999): mitochondrial DNA recombination - reasons to panic." Proceedings of the Royal Society of London. Series B: Biological Sciences 266(1433):2041-2042.
Fabrizi, G. M., Cardaioli, E., Grieco, G. S., Cavallaro, T., Malandrini, A., Manneschi, L., Dotti, M. T., Federico, A. and Guazzi, G. (1996). "The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome." Journal of Neurology, Neurosurgery and Psychiatry 61(1):47-51.
Fabrizi, G. M., Rizzuto, R., Nakase, H., Mita, S., Kadenbach, B. and Schon, E. A. (1989). "Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase." Nucleic Acids Research 17(15):6409.
Fabrizi, G. M., Rizzuto, R., Nakase, H., Mita, S., Lomax, M. I., Grossman, L. I. and Schon, E. A. (1989). "Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase." Nucleic Acids Research 17(17):7107.
Fabrizi, G. M., Sadlock, J., Hirano, M., Mita, S., Koga, Y., Rizzuto, R., Zeviani, M. and Schon, E. A. (1992). "Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase." Gene 119(2):307-312.
Fachal, L., Mosquera-Miguel, A., Pastor, P., Ortega-Cubero, S., Lorenzo, E., Oterino-Duran, A., Toriello, M., Quintans, B., Camina-Tato, M., Sesar, A., Vega, A., Sobrido, M. J. and Salas, A. (2015). "No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population." American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics 168B(1):54-65.
Fadic, R., Russell, J. A., Vedanarayanan, V. V., Lehar, M., Kuncl, R. W. and Johns, D. R. (1997). "Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease." Neurology 49(1):239-245.
Fagundes, N. J., Kanitz, R., Eckert, R., Valls, A. C., Bogo, M. R., Salzano, F. M., Smith, D. G., Silva, W. A., Jr., Zago, M. A., Ribeiro-dos-Santos, A. K., Santos, S. E., Petzl-Erler, M. L. and Bonatto, S. L. (2008). "Mitochondrial population genomics supports a single pre-Clovis origin with a coastal route for the peopling of the Americas". American Journal of Human Genetics 82(3):583-592.
Fahn, H. J., Wang, L. S., Kao, S. H., Chang, S. C., Huang, M. H. and Wei, Y. H. (1998). "Smoking-associated mitochondrial DNA mutations and lipid peroxidation in human lung tissues." American Journal of Respiratory Cell & Molecular Biology 19(6):901-909.
Fahy, E., Nazarbaghi, R., Zomorrodi, M., Herrnstadt, C., Parker, W. D., Davis, R. E. and Ghosh, S. S. (1997). "Multiplex fluorescence-based primer extension method for quantitative mutation analysis of mitochondrial DNA and its diagnostic application for Alzheimer's disease." Nucleic Acids Research 25(15):3102-3109.
Fairbanks, L. D., Marinaki, A. M., Carrey, E. A., Hammans, S. R. and Duley, J. A. (2002). "Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)." Journal of Inherited Metabolic Disease 25(7):603-604.
Falah, M., Farhadi, M., Kamrava, S. K., Mahmoudian, S., Daneshi, A., Balali, M., Asghari, A. and Houshmand, M. (2017). "Association of genetic variations in the mitochondrial DNA control region with presbycusis." Clinical Interventions in Aging 12:459-465.
Falk, M. J. and Sondheimer, N. (2010). "Mitochondrial genetic diseases [Review]". Current Opinion in Pediatrics 22(6):711-716.
Falkenberg, M. and Gustafsson, C. M. (2020). "Mammalian mitochondrial DNA replication and mechanisms of deletion formation." Critical Reviews in Biochemistry and Molecular Biology 55(6):509-524.
Falkenberg, M., Gaspari, M., Rantanen, A., Trifunovic, A., Larsson, N. G. and Gustafsson, C. M. (2002). "Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA." Nature Genetics 31(3):289-294.
Falkenberg, M., Larsson, N. G. and Gustafsson, C. M. (2007). "DNA replication and transcription in mammalian mitochondria." Annual Review of Biochemistry 76:679-699.
Fan, L. and Yao, Y. G. (2011). "MitoTool: A web server for the analysis and retrieval of human mitochondrial DNA sequence variations." Mitochondrion 11(2):351-356.
Fan, W., Waymire, K., Narula, N., Li, P., Rocher, C., Coskun, P. E., Vannan, M. A., Narula, J., MacGregor, G. R. and Wallace, D. C. (2008). "A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations." Science 319(5865):958-962.
Fan, W., Zheng, J., Kong, W., Cui, L., Aishanjiang, M., Yi, Q., Wang, M., Cang, X., Tang, X., Chen, Y., Mo, J. Q., Sondheimer, N., Ge, W. and Guan, M. X. (2019). "Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation." The Journal of Biological Chemistry 294(50):19292-19305.
Fang, H., Shi, H., Li, X., Sun, D., Li, F., Li, B., Ding, Y., Ma, Y., Liu, Y., Zhang, Y., Shen, L., Bai, Y., Yang, Y. and Lu, J. (2015). "Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation." Scientific Reports 5:10480.
Fang, W. (1996). "Polyneuropathy in the mtDNA base pair 3243 point mutation." Neurology 46(5):1494-1495; author reply 1495-1496.
Fang, W., Huang, C. C., Lee, C. C., Cheng, S. Y., Pang, C. Y. and Wei, Y. H. (1993). "Ophthalmologic manifestations in MELAS syndrome." Archives of Neurology 50(9):977-980.
Fang, Y., Huang, J., Zhang, J., Wang, J., Qiao, F., Chen, H. M. and Hong, Z. P. (2015). "Detecting the somatic mutations spectrum of Chinese lung cancer by analyzing the whole mitochondrial DNA genomes." Mitochondrial DNA 26(1):56-60.
Fantini, M., Asanad, S., Karanjia, R. and Sadun, A. (2019). "Hormone replacement therapy in Leber's hereditary optic neuropathy: Accelerated visual recovery in vivo." Journal of Current Opththalmology 31(1):102-105.
Farha, S., Hu, B., Comhair, S., Zein, J., Dweik, R., Erzurum, S. C. and Aldred, M. A. (2016). "Mitochondrial haplogroups and risk of pulmonary arterial hypertension." PLoS ONE 11(5):e0156042.
Fariello, M. I., Boitard, S., Naya, H., SanCristobal, M. and Servin, B. (2013). "Detecting signatures of selection through haplotype differentiation among hierarchically structured populations." Genetics 193(3):929-941.
Fariss, M. W. and Reed, D. J. (1987). "High-performance liquid chromatography of thiols and disulfides: dinitrophenol derivatives." Methods in Enzymology 143:101-109.
Farrar, R. P., Ardies, C. M., Shorey, R. L. and Erickson, C. K. (1982). "The interaction of ethanol and swimming upon cardiac mass and mitochondrial function." Pharmacology Biochemistry and Behavior 16(2):207-210.
Farrell, L. B. and Nagley, P. (1987). "Human liver cDNA clones encoding proteolipid subunit 9 of the mitochondrial ATPase complex." Biochemical and Biophysical Research Communications 144(3):1257-1264.
Farrer, L. A., Cupples, L. A., van Duijn, C. M., Kurz, A., Zimmer, R., et al. (1995). "Apolipoprotein E genotype in patients with Alzheimer's disease: implications for the risk of dementia among relatives." Annals of Neurology 38(5):797-808.
Fassati, A., Bordoni, A., Amboni, P., Fortunato, F., Fagiolari, G., Bresolin, N., Prelle, A., Comi, G. and Scarlato, G. (1994). "Chronic progressive external ophthalmoplegia: a correlative study of quantitative molecular data and histochemical and biochemical profile." Journal of the Neurological Sciences 123(1-2):140-146.
Fattal, O., Budur, K., Vaughan, A. J. and Franco, K. (2006). "Review of the literature on major mental disorders in adult patients with mitochondrial diseases." Psychosomatics 47(1):1-7.
Faulkner, K. M., Liochev, S. I. and Fridovich, I. (1994). "Stable Mn(III) porphyrins mimic superoxide dismutase in vitro and substitute for it in vivo." Journal of Biological Chemistry 269(38):23471-23476.
Fauser, S., Leo-Kottler, B., Besch, D. and Luberichs, J. (2002). "Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy." Ophthalmic Genetics 23(3):191-197.
Fauser, S., Luberichs, J., Besch, D. and Leo-Kottler, B. (2002). "Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations." Biochemical and Biophysical Research Communications 295(2):342-347.
Favier, A., Sappey, C., Leclerc, P., Faure, P. and Micoud, M. (1994). "Antioxidant status and lipid peroxidation in patients infected with HIV." Chemico-Biological Interactions 91(2-3):165-180.
Favit, A., Nicoletti, F., Scapagnini, U. and Canonico, P. L. (1992). "Ubiquinone protects cultured neurons against spontaneousand excitotoxin-induced degeneration." Journal of Cerebral Blood Flow and Metabolism 12(4):638-645.
Fay, A., Garcia, Y., Margeta, M., Maharjan, S., Jurgensen, C., Briceno, J., Garcia, M., Yin, S., Bassaganyas, L., McMahon, T., Hou, Y. M., Fu, Y. H. and Ptacek, L. J. (2020). "A mitochondrial tRNA mutation causes axonal CMT in a large Venezuelan family." Annals of Neurology 88(4):830-842.
Fayet, G., Jansson, M., Sternberg, D., Moslemi, A. R., Blondy, P., Lombes, A., Fardeau, M. and Oldfors, A. (2002). "Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function." Neuromuscular Disorders 12(5):484-493.
Fearnley, I. M. and Walker, J. E. (1987). "Initiation codons in mammalian mitochondria: differences in genetic code in the organelle." Biochemistry 26(25):8247-8251.
Fearnley, I. M. and Walker, J. E. (1992). "Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins." Biochimica et Biophysica Acta 1140(2):105-134.
Fearnley, I. M., Skehel, J. M. and Walker, J. E. (1994). "Electrospray ionization mass spectrometric analysis of subunits of NADH:ubiquinone oxidoreductase (complex I) from bovine heart mitochondria." Biochem Soc Trans 22(2):551-555.
Feddersen, B., Bender, A., Arnold, S., Klopstock, T. and Noachtar, S. (2003). "Aggressive confusional state as a clinical manifestation of status epilepticus in MELAS." Neurology 61(8):1149-1150.
Feder, J., Blech, I., Ovadia, O., Amar, S., Wainstein, J., Raz, I., Dadon, S., Arking, D. E., Glaser, B. and Mishmar, D. (2008). "Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications." BMC Genomics 9:198.
Federico, A., Dotti, M. T., Cardaioli, E., Grieco, G., Malandrini, A., Manneschi, L., Plewnia, K., Rufa, A., Renieri, A., Bruttini, M. and Perticoni, G. F. (1998). "Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study." Journal of Submicroscopic Cytology & Pathology 30(4):521-526.
Fedorova, S. A., Reidla, M., Metspalu, E., Metspalu, M., Rootsi, S., Tambets, K., Trofimova, N., Zhadanov, S. I., Hooshiar Kashani, B., Olivieri, A., Voevoda, M. I., Osipova, L. P., Platonov, F. A., Tomsky, M. I., Khusnutdinova, E. K., Torroni, A. and Villems, R. (2013). "Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia". BMC Evolutionary Biology 13:127.
Feelisch, M., te Poel, M., Zamora, R., Deussen, A. and Moncada, S. (1994). "Understanding the controversy over the identity of EDRF." Nature 368(6466):62-65.
Feeney, C. L., Lim, A. Z., Fagan, E., Blain, A., Bright, A., Maddison, J., Devine, H., Stewart, J., Taylor, R. W., Gorman, G. S., Turnbull, D. M., Nesbitt, V. and McFarland, R. (2019). "A case-comparison study of pregnant women with mitochondrial disease - what to expect?" BJOG 126(11):1380-1389.
Fehren-Schmitz, L., Jarman, C. L., Harkins, K. M., Kayser, M., Popp, B. N. and Skoglund, P. (2017). "Genetic ancestry of Rapanui before and after European contact." Current Biology 27(20):3209-3215 e3206.
Fehren-Schmitz, L., Llamas, B., Lindauer, S., Tomasto-Cagigao, E., Kuzminsky, S., Rohland, N., Santos, F. R., Kaulicke, P., Valverde, G., Richards, S. M., Nordenfelt, S., Seidenberg, V., Mallick, S., Cooper, A., Reich, D. and Haak, W. (2015). "A re-appraisal of the early Andean human remains from Lauricocha in Peru." PLoS ONE 10(6):e0127141.
Fehren-Schmitz, L., Reindel, M., Cagigao, E. T., Hummel, S. and Herrmann, B. (2010). "Pre-Columbian population dynamics in coastal southern Peru: A diachronic investigation of mtDNA patterns in the Palpa region by ancient DNA analysis." American Journal of Physical Anthropology 141(2):208-221.
Feigenbaum, A., Bai, R. K., Doherty, E. S., Kwon, H., Tan, D., Sloane, A., Cutz, E., Robinson, B. H. and Wong, L. J. (2006). "Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness." American Journal of Medical Genetics. Part A 140(20):2216-2222.
Feil, R., Brocard, J., Mascrez, B., LeMeur, M., Metzger, D. and Chambon, P. (1996). "Ligand-activated site-specific recombination in mice." Proceedings of the National Academy of Sciences of the United States of America 93(20):10887-10890.
Felhi, R., Mkaouar-Rebai, E., Sfaihi-Ben Mansour, L., Alila-Fersi, O., Tabebi, M., Ben Rhouma, B., Ammar, M., Keskes, L., Hachicha, M. and Fakhfakh, F. (2016). "Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene." Biochemical and Biophysical Research Communications 473(1):61-66.
Felkai, S., Ewbank, J. J., Lemieux, J. J., Labbe, C., Brown, G. G. and Hekimi, S. (1999). "CLK-1 controls respiration, behavior and aging in the nematode Caenorhabditis elegans." EMBO Journal 18(7):1783-1792.
Fendt, L., Rock, A., Zimmermann, B., Bodner, M., Thye, T., Tschentscher, F., Owusu-Dabo, E., Gobel, T. M., Schneider, P. M. and Parson, W. (2012). "MtDNA diversity of Ghana: a forensic and phylogeographic view." Forensic Science International. Genetics 6(2):244-249.
Ferlin, T., Guironnet, G., Barnoux, M. C., Dumoulin, R., Stepien, G. and Mousson, B. (1997). "Detection of mitochondrial DNA deletions by a screening procedure using the polymerase chain reaction." Molecular & Cellular Biochemistry 174(1-2):221-225.
Ferlin, T., Landrieu, P., Rambaud, C., Fernandez, H., Dumoulin, R., Rustin, P. and Mousson, B. (1997). "Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome." Journal of Pediatrics 131(3):447-449.
Fernandez-Moreno, M. A., Bornstein, B., Campos, Y., Arenas, J. and Garesse, R. (2000). "The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes." Molecular Genetics and Metabolism 70(3):238-240.
Fernandez, A., Kiefer, J., Fosdick, L. and McConkey, D. J. (1995). "Oxygen radical production and thiol depletion are required for Ca(2+)- mediated endogenous endonuclease activation in apoptotic thymocytes." Journal of Immunology 155(11):5133-5139.
Ferrari, F. K., Xiao, X., McCarty, D. and Samulski, R. J. (1997). "New developments in the generation of Ad-free, high-titer rAAV gene therapy vectors." Nature Medicine 3(11):1295-1297.
Ferraris, A., Rappaport, E., Santacroce, R., Pollak, E., Krantz, I., Toth, S., Lysholm, F., Margaglione, M., Restagno, G., Dallapiccola, B., Surrey, S. and Fortina, P. (2002). "Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss." Human Mutation 20(4):312-320.
Ferraris, S., Clark, S., Garelli, E., Davidzon, G., Moore, S. A., Kardon, R. H., Bienstock, R. J., Longley, M. J., Mancuso, M., Gutierrez Rios, P., Hirano, M., Copeland, W. C. and DiMauro, S. (2008). "Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1." Archives of Neurology 65(1):125-131.
Ferre, F. (1992). "Quantitative or semi-quantitative PCR: reality versus myth." PCR Methods and Applications 2(1):1-9.
Ferre, M., Bonneau, D., Milea, D., Chevrollier, A., Verny, C., Dollfus, H., Ayuso, C., Defoort, S., Vignal, C., Zanlonghi, X., Charlin, J. F., Kaplan, J., Odent, S., Hamel, C. P., Procaccio, V., Reynier, P. and Amati-Bonneau, P. (2009). "Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations." Human Mutation 30(7):E692-705.
Ferrell, R. E., Merriwether, A. D. and Hamman, R. R. (1994). "Serological and mitochondrial DNA measures of Amerindian admixture in the Hispanic Americans of the San Luis Valley, Colorado." 93rd Annual Meeting of the American Anthropological Association, Atlanta, Ga.Abstract.
Ferris, S. D., Sage, R. D. and Wilson, A. C. (1982). "Evidence from mtDNA sequences that common laboratory strains of inbred mice are descended from a single female." Nature 295(5845):163-165.
Fetoni, V., Briem, E., Carrara, F., Mora, M. and Zeviani, M. (2004). "Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene." Neuromuscular Disorders 14(11):723-726.
Fetter, J. R., Qian, J., Shapleigh, J., Thomas, J. W., Garcia-Horsman, A., Schmidt, E., Hosler, J., Babcock, G. T., Gennis, R. B. and Ferguson-Miller, S. (1995). "Possible proton relay pathways in cytochrome c oxidase." Proceedings of the National Academy of Sciences of the United States of America 92(5):1604-1608.
Fetterman, J. L., Liu, C., Mitchell, G. F., Vasan, R. S., Benjamin, E. J., Vita, J. A., Hamburg, N. M. and Levy, D. (2018). "Relations of mitochondrial genetic variants to measures of vascular function." Mitochondrion 40:51-57.
Feuer, W. J., Schiffman, J. C., Davis, J. L., Porciatti, V., Gonzalez, P., Koilkonda, R. D., Yuan, H., Lalwani, A., Lam, B. L. and Guy, J. (2016). "Gene therapy for Leber hereditary optic neuropathy: initial results." Ophthalmology 123(3):558-570.
Feuermann, M., Francisci, S., Rinaldi, T., De Luca, C., Rohou, H., Frontali, L. and Bolotin-Fukuhara, M. (2003). "The yeast counterparts of human 'MELAS' mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF-Tu." EMBO Reports 4(1):53-58.
Figarella-Branger, D., Pellissier, J. F., Scheiner, C., Wernert, F. and Desnuelle, C. (1992). "Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement." Journal of the Neurological Sciences 108(1):105-113.
Figueiro, G., Cabrera Pérez, L., Lindo John, Mallott, E. K., Owings, A., Malhi, R. S. and Sans, M. (2017). "[Analysis of the mitochondrial genome of two individuals buried in the archaeological site CG14E01 "Isla Larga" (Rocha, Uruguay)]." Revista Argentina de Antropología Biológica 19(1):Available online from: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1514-79912017000100006&lng=en [in Spanish with English abstract].
Figueroa-Martinez, F., Vazquez-Acevedo, M., Cortes-Hernandez, P., Garcia-Trejo, J. J., Davidson, E., King, M. P. and Gonzalez-Halphen, D. (2011). "What limits the allotopic expression of nucleus-encoded mitochondrial genes? The case of the chimeric Cox3 and Atp6 genes." Mitochondrion 11(1):147-154.
Figulla, H. R., Bardosi, A., Dechant, K. and Kreuzer, H. (1991). "Enzyme histochemistry of endomyocardial biopsies in idiopathic dilated cardiomyopathy." Cardiology 78(3):282-290.
Fillano, J. J., Goldenthal, M. J., Rhodes, C. H. and Marin-Garcia, J. (2002). "Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome." Journal of Child Neurology 17(6):435-439.
Fillingame, R. H., Girvin, M. E., Jiang, W., Valiyaveetil, F. and Hermolin, J. (1998). "Subunit interactions coupling H+ transport and ATP synthesis in F1F0 ATP synthase." Acta Physiologica Scandinavica. Supplementum 643:163-168.
Filosto, M., Lanzi, G., Nesti, C., Vielmi, V., Marchina, E., Galvagni, A., Giliani, S., Santorelli, F. M. and Padovani, A. (2016). "A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease." Molecular Genetics and Metabolism Reports 6:70-73.
Filosto, M., Mancuso, M., Vives-Bauza, C., Vila, M. R., Shanske, S., Hirano, M., Andreu, A. L. and DiMauro, S. (2003). "Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies." Annals of Neurology 54(4):524-526.
Filosto, M., Tomelleri, G., Tonin, P., Scarpelli, M., Vattemi, G., Rizzuto, N., Padovani, A. and Simonati, A. (2007). "Neuropathology of mitochondrial diseases." Bioscience Reports 27(1-3):23-30.
Filosto, M., Tonin, P., Vattemi, G., Spagnolo, M., Rizzuto, N. and Tomelleri, G. (2002). "Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases." Acta Neuropathologica 103(3):215-220.
Fine, P. E. (1978). "Mitochondrial inheritance and disease." Lancet 2(8091):659-662.
Fine, S. L., Berger, J. W., Maguire, M. G. and Ho, A. C. (2000). "Age-related macular degeneration." New England Journal of Medicine 342(7):483-492.
Fingert, J. H., Grassi, M. A., Janutka, J. C., East, J. S., Howard, J. G., Sheffield, V. C., Jacobson, D. M., Hayreh, S. S. and Stone, E. M. (2007). "Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree." Ophthalmic Genetics 28(1):1-7.
Finnila, S. and Majamaa, K. (2001). "Phylogenetic analysis of mtDNA haplogroup TJ in a Finnish population." Journal of Human Genetics 46(2):64-69.
Finnila, S. and Majamaa, K. (2003). "Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation." European Journal of Human Genetics 11(9):652-658.
Finnila, S., Autere, J., Lehtovirta, M., Hartikainen, P., Mannermaa, A., Soininen, H. and Majamaa, K. (2001). "Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln." Journal of Medical Genetics 38(6):400-405.
Finnila, S., Hassinen, I. E. and Majamaa, K. (1999). "Restriction fragment analysis as a source of error in detection of heteroplasmic mtDNA mutations." Mutation Research 406(2-4):109-114.
Finnila, S., Hassinen, I. E. and Majamaa, K. (2001). "Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke. Evaluation of mutations by using sequence data on the entire coding region." Mutation Research 458(1-2):31-39.
Finnila, S., Hassinen, I. E., Ala-Kokko, L. and Majamaa, K. (2000). "Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis." American Journal of Human Genetics 66(3):1017-1026.
Finnila, S., Lehtonen, M. S. and Majamaa, K. (2001). "Phylogenetic Network for European mtDNA." American Journal of Human Genetics 68(6):1475-1484.
Finnila, S., Tuisku, S., Herva, R. and Majamaa, K. (2001). "A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL." Journal of Molecular Medicine 79(11):641-647.
Finsterer, J. (2002). "Mitochondriopathy as a differential diagnosis of amyotrophic lateral sclerosis." Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders 3(4):219-224.
Finsterer, J. (2003). "Mitochondriopathy mimicking amyotrophic lateral sclerosis." Neurologist 9(1):45-48.
Finsterer, J. (2004). "Mitochondriopathies." European Journal of Neurology 11(3):163-186.
Finsterer, J. (2007). "A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA." Neurology 68(2):163-164.
Finsterer, J. (2007). "Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation". Acta Neurologica Scandinavica 116(1):1-14.
Finsterer, J. (2008). "Histiocytoid cardiomyopathy: a mitochondrial disorder". Clinical Cardiology 31(5):225-227.
Finsterer, J. (2008). "Cognitive decline as a manifestation of mitochondrial disorders (mitochondrial dementia)." Journal of the Neurological Sciences 272(1-2):20-33.
Finsterer, J. (2008). "Leigh and Leigh-like syndrome in children and adults". Pediatric Neurology 39(4):223-235.
Finsterer, J. (2009). "Mitochondrial disorders, cognitive impairment and dementia." Journal of the Neurological Sciences 283(1-2):143-148.
Finsterer, J. (2010). "Treatment of mitochondrial disorders." European Journal of Paediatric Neurology 14(1):29-44.
Finsterer, J. (2019). "Liability of sepsis is hardly determined by the COXI variant m.6459T>C." Journal of Cellular and Molecular Medicine. 23(1):689-690.
Finsterer, J. (2019). "ADVERSE REACTION TO ANESTHESIA IN A M.8993T>C CARRIER WITH LEIGH SYNDROME Re: LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION." Revista Paulista de Pediatria 37(1):135.
Finsterer, J. (2019). "Re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre." BJOG 126(11):1400-1401.
Finsterer, J. (2019). "Pathogenicity of the m.1630A>G variant remains elusive if related mutation carriers with similar heteroplasmy rates are asymptomatic." Molecular Genetics and Metabolism Reports 19:100461.
Finsterer, J. (2019). "Exclusive affection of the brain in m.4450G>A carriers rather suggests Leigh syndrome than MELAS." Brain and Development 41(8):741.
Finsterer, J. (2019). "Diagnostic and therapeutic aspects of Leigh syndrome due to the variant m.10197G>A." Journal of the Neurological Sciences 400:182-183.
Finsterer, J. (2019). "Exercise-induced falls Attributed to the variant m.8344A>G." Internal Medicine 58(18):2751.
Finsterer, J. (2019). "Is the MT-TN variant m.5703G>A truly causative for myoclonic epilepsy with ragged red fibers syndrome plus?" Chinese Medical Journal (English) 132(14):1752.
Finsterer, J. (2019). "Commentary: New variant of MELAS syndrome with executive dysfunction, heteroplasmic point mutation in the MT-ND4 gene (m.12015T>C; p.Leu419Pro) and comorbid polyglandular autoimmune syndrome type 2." Frontiers in Immunology 10:1333.
Finsterer, J. (2020). "Letter to the Editor: Comments on "Obesity associated with a novel mitochondrial tRNACys m.5802A>G mutation in a Chinese family"." Bioscience Reports 40(2).
Finsterer, J. (2020). "Is the variant m.9176T > C in MT-ATP6 truly responsibly for Leigh syndrome?" Pediatrics International 62(10):1217.
Finsterer, J. (2022). "tRNA variants causing Leber's hereditary optic neuropathy?" Irish Journal of Medical Science 191(3):1443-1444.
Finsterer, J. and Stollberger, C. (2003). "LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient." European Neurology 49(3):186-187.
Finsterer, J. and Zarrouk-Mahjoub, S. (2016). "Affection of the frontal lobe in Leigh syndrome due to the m.8993T>G mutation." Journal of the Neurological Sciences 366:249-250.
Finsterer, J. and Zarrouk-Mahjoub, S. (2017). "Epilepsia partialis continua in MELAS/Leigh overlap syndrome." Brain and Development 39(4):365.
Finsterer, J. and Zarrouk-Mahjoub, S. (2017). "Levels of nitric oxide pathway parameters may depend on heteroplasmy rates of the m.3243A>G mutation." International Journal of Cardiology 229:26.
Finsterer, J. and Zarrouk-Mahjoub, S. (2017). "MELAS/Leigh overlap syndrome due to the ND6 mutation m.10158T>C." Brain and Development 39(8):724.
Finsterer, J. and Zarrouk-Mahjoub, S. (2017). "Variants m.13276G>A in the MT-ND5 and m.8241T>G in the MT-CO2 gene are not responsible for maternally inherited diabetes and deafness." Journal of Diabetes and its Complications 31(11):1638.
Finsterer, J. and Zarrouk-Mahjoub, S. (2017). "Pathogenicity of the LHON variant m.3472T>C is uncertain." Journal of the Neurological Sciences 382:164-165.
Finsterer, J. and Zarrouk-Mahjoub, S. (2018). "Maternally inherited diabetes and deafness (MIDD) due to the m.9155A>G mutation." International Journal of Research Studies in Medical and Health Sciences 3(5):7-8.
Finsterer, J. and Zarrouk-Mahjoub, S. (2018). "Is vatiquinone truly beneficial for Leigh syndrome?" Brain and Development 40(5):443. Comment on Kouga et al [PMID 28916229]; reply by Osaka and Kouga [PMID 29500099]
Finsterer, J. and Zarrouk-Mahjoub, S. (2018). "Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants." Neuromuscular Disorders 28(4):373-374.
Finsterer, J. and Zarrouk-Mahjoub, S. (2018). "Phenotypic manifestations of the m.8969G>A variant." Neurogenetics 19(2):131-132.
Finsterer, J. and Zarrouk-Mahjoub, S. (2018). "Polymegathism as a biomarker of mitochondrial disorders." Graefe's Archive for Clinical and Experimental Ophthalmology 256(6):1211-1212.
Finsterer, J. and Zarrouk-Mahjoub, S. (2018). "Infantile-onset deafness in m.7445A>G carriers may be multicausal [Comment on Matsushima et al 2018, PMID 29605341]." International Journal of Pediatric Otorhinolaryngology 111:192-193.
Finsterer, J., Bittner, R., Bodingbauer, M., Eichberger, H., Stollberger, C. and Blazek, G. (2000). "Complex mitochondriopathy associated with 4 mtDNA transitions." European Neurology 44(1):37-41.
Finsterer, J., Jarius, C., Eichberger, H. and Jaksch, M. (2001). "Phenotype variability in 130 adult patients with respiratory chain disorders." Journal of Inherited Metabolic Disease 24(5):560-576.
Finsterer, J., Stollberger, C. and Schubert, B. (2004). "Acquired left ventricular hypertrabeculation/noncompaction in mitochondriopathy." Cardiology 102(4):228-230.
Finsterer, J., Stollberger, C., Kopsa, W. and Jaksch, M. (2001). "Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy." Canadian Journal of Cardiology 17(4):464-466.
Fischel-Ghodsian, N. (1998). "Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics [editorial; comment]." American Journal of Human Genetics 62(1):15-19.
Fischel-Ghodsian, N. (1998). "Mitochondrial genetics and hearing loss: the missing link between genotype and phenotype." Proceedings of the Society for Experimental Biology and Medicine 218(1):1-6.
Fischel-Ghodsian, N. (1998). "Mitochondrial RNA processing and translation: link between mitochondrial mutations and hearing loss?" Molecular Genetics & Metabolism 65(2):97-104.
Fischel-Ghodsian, N. (1999). "Mitochondrial deafness mutations reviewed." Human Mutation 13(4):261-270.
Fischel-Ghodsian, N. (2000). "Homoplasmic mitochondrial DNA diseases as the paradigm to understand the tissue specificity and variable clinical severity of mitochondrial disorders." Molecular Genetics and Metabolism 71(1-2):93-99.
Fischel-Ghodsian, N. (2003). "Mitochondrial diseases." New England Journal of Medicine 349(13):1293-1294; author reply 1293-1294.
Fischel-Ghodsian, N. (2005). "Genetic factors in aminoglycoside toxicity." Pharmacogenomics 6(1):27-36.
Fischel-Ghodsian, N., Bohlman, M. C., Prezant, T. R., Graham, J. M., Jr., Cederbaum, S. D. and Edwards, M. J. (1992). "Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome." Pediatric Research 31(6):557-560.
Fischel-Ghodsian, N., Bykhovskaya, Y., Taylor, K., Kahen, T., Cantor, R., Ehrenman, K., Smith, R. and Keithley, E. (1997). "Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations." Hearing Research 110(1-2):147-154.
Fischel-Ghodsian, N., Prezant, T. R., Bu, X. and Oztas, S. (1993). "Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity." American Journal of Otolaryngology 14(6):399-403.
Fischel-Ghodsian, N., Prezant, T. R., Chaltraw, W. E., Wendt, K. A., Nelson, R. A., Arnos, K. S. and Falk, R. E. (1997). "Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity." American Journal of Otolaryngology 18(3):173-178.
Fischel-Ghodsian, N., Prezant, T. R., Fournier, P., Stewart, I. A. and Maw, M. (1995). "Mitochondrial mutation associated with nonsyndromic deafness." American Journal of Otolaryngology 16(6):403-408.
Fischer, S. G. and Lerman, L. S. (1983). "DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory." Proceedings of the National Academy of Sciences of the United States of America 80(6):1579-1583.
Fish, J., Raule, N. and Attardi, G. (2004). "Discovery of a major D-loop replication origin reveals two modes of human mtDNA synthesis." Science 306(5704):2098-2101.
Fisher, K. J., Jooss, K., Alston, J., Yang, Y., Haecker, S. E., High, K., Pathak, R., Raper, S. E. and Wilson, J. M. (1997). "Recombinant adeno-associated virus for muscle directed gene therapy." Nature Medicine 3(3):306-312.
Fisher, R. P., Parisi, M. A. and Clayton, D. A. (1989). "Flexible recognition of rapidly evolving promoter sequences by mitochondrial transcription factor 1." Genes Dev 3:2202-2217.
Fisher, R. P., Topper, J. N. and Clayton, D. A. (1987). "Promoter selection in human mitochondria involves binding of a transcription factor to orientation-independent upstream regulatory elements." Cell 50(2):247-258.
Fitzpatrick, E. A., Rhoads, C. A., Espandiari, P., Kaplan, A. M. and Cohen, D. A. (1995). "Ethanol as a possible cofactor in the development of murine AIDS." Alcoholism: Clinical and Experimental Research 19(4):915-922.
Flanigan, K. M. and Johns, D. R. (1993). "Association of the 11778 mitochondrial DNA mutation and demyelinating disease." Neurology 43(12):2720-2722.
Fleury, C., Neverova, M., Collins, S., Raimbault, S., Champigny, O., Levi-Meyrueis, C., Bouillaud, F., Seldin, M. F., Surwit, R. S., Ricquier, D. and Warden, C. H. (1997). "Uncoupling protein-2: a novel gene linked to obesity and hyperinsulinemia [see comments]." Nature Genetics 15(3):269-272.
Flierl, A., Jackson, C., Cottrell, B., Murdock, D., Seibel, P. and Wallace, D. C. (2003). "Targeted delivery of DNA to the mitochondrial compartment via import sequence-conjugated peptide nucleic acid." Molecular Therapy 7(4):550-557.
Flierl, A., Reichmann, H. and Seibel, P. (1997). "Pathophysiology of the MELAS 3243 transition mutation." Journal of Biological Chemistry 272(43):27189-27196.
Fliss, M. S., Usadel, H., Caballero, O. L., Wu, L., Buta, M. R., Eleff, S. M., Jen, J. and Sidransky, D. (2000). "Facile detection of mitochondrial DNA mutations in tumors and bodily fluids." Science 287(5460):2017-2019.
Flomenbaum, M., Soeiro, R., Udem, S. A., Kress, Y. and Factor, S. M. (1989). "Proliferative membranopathy and human immunodeficiency virus in AIDS hearts." Journal of Acquired Immune Deficiency Syndromes 2(2):129-135.
Floreani, M., Napoli, E., Martinuzzi, A., Pantano, G., De Riva, V., Trevisan, R., Bisetto, E., Valente, L., Carelli, V. and Dabbeni-Sala, F. (2005). "Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy". The FEBS Journal 272(5):1124-1135.
Florentz, C. and Sissler, M. (2001). "Disease-related versus polymorphic mutations in human mitochondrial tRNAs. Where is the difference?" EMBO Reports 2(6):481-486.
Florentz, C., Sohm, B., Tryoen-Toth, P., Putz, J. and Sissler, M. (2003). "Human mitochondrial tRNAs in health and disease." Cellular and Molecular Life Sciences 60(7):1356-1375.
Flores, C., Maca-Meyer, N., Perez, J. A., Gonzalez, A. M., Larruga, J. M. and Cabrera, V. M. (2003). "A predominant European ancestry of paternal lineages from Canary Islanders." Annals of Human Genetics 67(Pt 2):138-152.
Flores, S. C., Marecki, J. C., Harper, K. P., Bose, S. K., Nelson, S. K. and McCord, J. M. (1993). "Tat protein of human immunodeficiency virus type 1 represses expression of manganese superoxide dismutase in HeLa cells." Proceedings of the National Academy of Sciences of the United States of America 90(16):7632-7636.
Floto, R. A., Mahaut-Smith, M. P., Somasundaram, B. and Allen, J. M. (1995). "IgG-induced Ca2+ oscillations in differentiated U937 cells; a study using laser scanning confocal microscopy and co-loaded fluo-3 and fura-red fluorescent probes." Cell Calcium 18(5):377-389.
Fodor, S. P., Read, J. L., Pirrung, M. C., Stryer, L., Lu, A. T. and Solas, D. (1991). "Light-directed, spatially addressable parallel chemical synthesis." Science 251(4995):767-773.
Folgero, T., Bertheussen, K., Lindal, S., Torbergsen, T. and Oian, P. (1993). "Mitochondrial disease and reduced sperm motility." Human Reproduction 8(11):1863-1868.
Folgero, T., Torbergsen, T. and Oian, P. (1995). "The 3243 MELAS mutation in a pedigree with MERRF." European Neurology 35(3):168-171.
Fondriest, J. J. and Golnik, K. C. (2020). "A rare mutation associated with probable late-onset Leber's hereditary optic neuropathy." Journal of Neuro-Ophthalmology 40(3):411-413.
Fontaine, E., Eriksson, O., Ichas, F. and Bernardi, P. (1998). "Regulation of the permeability transition pore in skeletal muscle mitochondria. Modulation by electron flow through the respiratory chain complex I." Journal of Biological Chemistry 273(20):12662-12668.
Formichi, P., Battisti, C., Bianchi, S., Cardaioli, E. and Federico, A. (2003). "Evidence of apoptosis via TUNEL staining in muscle biopsy from patients with mitochondrial encephaloneuromyopathies." Journal of Submicroscopic Cytology 35(1):29-34.
Formichi, P., Cardone, N., Taglia, I., Cardaioli, E., Salvatore, S., Gerfo, A. L., Simoncini, C., Montano, V., Siciliano, G., Mancuso, M., Malandrini, A., Federico, A. and Dotti, M. T. (2020). "Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions." Neurological Sciences 41(12):3653-3662.
Fornarino, S., Pala, M., Battaglia, V., Maranta, R., Achilli, A., Modiano, G., Torroni, A., Semino, O. and Santachiara-Benerecetti, S. A. (2009). "Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation". BMC Evolutionary Biology 9:154.
Fornuskova, D., Brantova, O., Tesarova, M., Stiburek, L., Honzik, T., Wenchich, L., Tietzeova, E., Hansikova, H. and Zeman, J. (2008). "The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues." Biochimica et Biophysica Acta 1782(5):317-325.
Forster, L., Forster, P., Lutz-Bonengel, S., Willkomm, H. and Brinkmann, B. (2002). "Natural radioactivity and human mitochondrial DNA mutations." Proceedings of the National Academy of Sciences of the United States of America 99(21):13950-13954.
Forster, P. (2004). "Ice Ages and the mitochondrial DNA chronology of human dispersals: a review." Philosophical Transactions of the Royal Society of London - Series B: Biological Sciences 359(1442):255-264; discussion 264.
Forster, P. and Matsumura, S. (2005). "Evolution. Did early humans go north or south?" Science 308(5724):965-966.
Forster, P., Harding, R., Torroni, A. and Bandelt, H. J. (1996). "Origin and evolution of Native American mtDNA variation: a reappraisal." American Journal of Human Genetics 59(4):935-945.
Forster, P., Torroni, A., Renfrew, C. and Rohl, A. (2001). "Phylogenetic star contraction applied to Asian and Papuan mtDNA evolution." Molecular Biology and Evolution 18(10):1864-1881.
Foury, F. and Cazzalini, O. (1997). "Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria." FEBS Letters 411(2-3):373-377.
Fox, C. L. (1997). "mtDNA analysis in ancient Nubians supports the existence of gene flow between sub-Sahara and North Africa in the Nile Valley." Annals of Human Biology 24(3):217-227.
Fragaki, K., Chaussenot, A., Serre, V., Acquaviva, C., Bannwarth, S., Rouzier, C., Chabrol, B. and Paquis-Flucklinger, V. (2019). "A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs." Molecular Genetics and Metabolism Reports 21:100543.
Fragaki, K., Procaccio, V., Bannwarth, S., Serre, V., O'Hearn, S., Potluri, P., Auge, G., Casagrande, F., Caruba, C., Lambert, J. C. and Paquis-Flucklinger, V. (2009). "A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene." Mitochondrion 9(5):346-352.
Fragouli, E., Spath, K., Alfarawati, S., Kaper, F., Craig, A., Michel, C. E., Kokocinski, F., Cohen, J., Munne, S. and Wells, D. (2015). "Altered levels of mitochondrial DNA are associated with female age, aneuploidy, and provide an independent measure of embryonic implantation potential." PLoS Genetics 11(6):e1005241.
Fraidakis, M. J., Jardel, C., Allouche, S., Nelson, I., Aure, K., Slama, A., Lemiere, I., Thenint, J. P., Hamon, J. B., Zagnoli, F., Heron, D., Sedel, F. and Lombes, A. (2014). "Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity." Mitochondrion 15:34-39.
Francalacci, P., Bertranpetit, J., Calafell, F. and Underhill, P. A. (1996). "Sequence diversity of the control region of mitochondrial DNA in Tuscany and its implications for the peopling of Europe." American Journal of Physical Anthropology 100(4):443-460.
Franceschetti, S., Antozzi, C., Binelli, S., Carrara, F., Nardocci, N., Zeviani, M. and Avanzini, G. (1993). "Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases." Acta Neurologica Scandinavica 87(3):219-223.
Franceschina, L., Salani, S., Bordoni, A., Sciacco, M., Napoli, L., Comi, G. P., Prelle, A., Fortunato, F., Hadjigeorgiou, G. M., Farina, E., Bresolin, N., D'Angelo, M. G. and Scarlato, G. (1998). "A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia [letter]." Journal of Neurology 245(11):755-758.
Frangione, B., Rosenwasser, E., Penefsky, H. S. and Pullman, M. E. (1981). "Amino acid sequence of the protein inhibitor of mitochondrial adenosine triphosphatase." Proceedings of the National Academy of Sciences of the United States of America 78(12):7403-7407.
Frank, D. M., Arora, P. K., Blumer, J. L. and Sayre, L. M. (1987). "Model study on the bioreduction of paraquat, MPP+, and analogs. Evidence against a "redox cycling" mechanism in MPTP neurotoxicity." Biochemical and Biophysical Research Communications 147(3):1095-1104.
Fraser, J. A., Biousse, V. and Newman, N. J. (2010). "The neuro-ophthalmology of mitochondrial disease." Survey of Ophthalmology 55(4):299-334.
Frederiksen, A. L., Andersen, P. H., Kyvik, K. O., Jeppesen, T. D., Vissing, J. and Schwartz, M. (2006). "Tissue specific distribution of the 3243A->G mtDNA mutation". Journal of Medical Genetics 43(8):671-677.
Frederiksen, A. L., Jeppesen, T. D., Vissing, J., Schwartz, M., Kyvik, K. O., Schmitz, O., Poulsen, P. L. and Andersen, P. H. (2009). "High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects". The Journal of Clinical Endocrinology and Metabolism 94(8):2872-2879.
Freeman, G. L., Colston, J. T., Zabalgoitia, M. and Chandrasekar, B. (1998). "Contractile depression and expression of proinflammatory cytokines and iNOS in viral myocarditis." American Journal of Physiology 274(1 Pt 2):H249-H258.
Fregel, R., Cabrera, V., Larruga, J. M., Abu-Amero, K. K. and Gonzalez, A. M. (2015). "Carriers of mitochondrial DNA macrohaplogroup N lineages reached Australia around 50,000 years ago following a northern asian route." PLoS ONE 10(6):e0129839.
Fregel, R., Mendez, F. L., Bokbot, Y., Martin-Socas, D., Camalich-Massieu, M. D., Santana, J., Morales, J., Avila-Arcos, M. C., Underhill, P. A., Shapiro, B., Wojcik, G., Rasmussen, M., Soares, A. E. R., Kapp, J., Sockell, A., Rodriguez-Santos, F. J., Mikdad, A., Trujillo-Mederos, A. and Bustamante, C. D. (2018). "Ancient genomes from North Africa evidence prehistoric migrations to the Maghreb from both the Levant and Europe." Proceedings of the National Academy of Sciences of the United States of America 115(26):6774-6779.
Fregel, R., Ordonez, A. C., Santana-Cabrera, J., Cabrera, V. M., Velasco-Vazquez, J., Alberto, V., Moreno-Benitez, M. A., Delgado-Darias, T., Rodriguez-Rodriguez, A., Hernandez, J. C., Pais, J., Gonzalez-Montelongo, R., Lorenzo-Salazar, J. M., Flores, C., Cruz-de-Mercadal, M. C., Alvarez-Rodriguez, N., Shapiro, B., Arnay, M. and Bustamante, C. D. (2019). "Mitogenomes illuminate the origin and migration patterns of the indigenous people of the Canary Islands." PLoS ONE 14(3):e0209125.
Freinkel, N., Metzger, B. E., Phelps, R. L., Simpson, J. L., Martin, A. O., Radvany, R., Ober, C., Dooley, S. L., Depp, R. O. and Belton, A. (1986). "Gestational diabetes mellitus: a syndrome with phenotypic and genotypic heterogeneity." Horm Metab Res 18(7):427-430.
Freyer, C., Cree, L. M., Mourier, A., Stewart, J. B., Koolmeister, C., Milenkovic, D., Wai, T., Floros, V. I., Hagstrom, E., Chatzidaki, E. E., Wiesner, R. J., Samuels, D. C., Larsson, N. G. and Chinnery, P. F. (2012). "Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission". Nature Genetics 44(11):1282-1285.
Friedlaender, J. S., Friedlaender, F. R., Hodgson, J. A., Stoltz, M., Koki, G., Horvat, G., Zhadanov, S., Schurr, T. G. and Merriwether, D. A. (2007). "Melanesian mtDNA Complexity." PLoS ONE 2:e248.
Friedlaender, J. S., Friedlaender, F. R., Reed, F. A., Kidd, K. K., Kidd, J. R., Chambers, G. K., Lea, R. A., Loo, J. H., Koki, G., Hodgson, J. A., Merriwether, D. A. and Weber, J. L. (2008). "The genetic structure of Pacific Islanders." PLoS Genetics 4(1):e19.
Friedlaender, J. S., Gentz, F., Green, K. and Merriwether, D. A. (2002). "A cautionary tale on ancient migration detection: mitochondrial DNA variation in Santa Cruz Islands, Solomon Islands." Human Biology 74(3):453-471.
Friedlaender, J., Schurr, T., Gentz, F., Koki, G., Friedlaender, F., Horvat, G., Babb, P., Cerchio, S., Kaestle, F., Schanfield, M., Deka, R., Yanagihara, R. and Merriwether, D. A. (2005). "Expanding southwest pacific mitochondrial haplogroups P and Q." Molecular Biology and Evolution 22(6):1506-1517.
Friedman, J. R., Lackner, L. L., West, M., DiBenedetto, J. R., Nunnari, J. and Voeltz, G. K. (2011). "ER tubules mark sites of mitochondrial division". Science 334(6054):358-362.
Froguel, P., Vaxillaire, M., Sun, F., Velho, G., Zouali, H., Butel, M. O., Lesage, S., Vionnet, N., Clement, K., Fougerousse, F., Tanizawa, Y., Weissenbach, J., Beckmann, J. S., Lathrop, G. M., Passa, P., Permutt, M. A. and Cohen, D. (1992). "Close linkage of glucokinase locus on chromosome 7p to early-onset non- insulin-dependent diabetes mellitus [published erratum appears in Nature 1992 Jun 18;357(6379):607]." Nature 356(6365):162-164.
Fromenty, B., Carrozzo, R., Shanske, S. and Schon, E. A. (1997). "High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart." American Journal of Medical Genetics 71(4):443-452.
Fromenty, B., Grimbert, S., Mansouri, A., Beaugrand, M., Erlinger, S., Rotig, A. and Pessayre, D. (1995). "Hepatic mitochondrial DNA deletion in alcoholics: association with microvesicular steatosis." Gastroenterology 108(1):193-200.
Froster, U. G., Wallner, S. J., Reusche, E., Schwinger, E. and Rehder, H. (1996). "VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers." American Journal of Medical Genetics 62(2):169-172.
Fruhman, G., Landsverk, M. L., Lotze, T. E., Hunter, J. V., Wangler, M. F., Adesina, A. M., Wong, L. J. and Scaglia, F. (2011). "Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation". Molecular Genetics and Metabolism 103(2):153-160.
Fryer, A., Appleton, R., Sweeney, M. G., Rosenbloom, L. and Harding, A. E. (1994). "Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'." Archives of Disease in Childhood 71(5):419-422.
Fu-Xiang, D., Jameson, M., Skopec, J., Diederich, A. and Diederich, D. (1992). "Endothelial dysfunction of resistance arteries of spontaneously hypertensive rats." Journal of Cardiovascular Pharmacology 20 Suppl 12:S190-S192.
Fu, G. K. and Markovitz, D. M. (1998). "The human LON protease binds to mitochondrial promoters in a single- stranded, site-specific, strand-specific manner." Biochemistry 37(7):1905-1909.
Fu, J., Ma, M. M., Pang, M., Yang, L., Li, G., Song, J. and Zhang, J. W. (2019). "Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome." Chinese Medical Journal (English) 132(7):865-867.
Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G. and Shoubridge, E. A. (1996). "A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy." Human Molecular Genetics 5(11):1835-1840.
Fu, Q., Rudan, P., Paabo, S. and Krause, J. (2012). "Complete mitochondrial genomes reveal neolithic expansion into Europe." PLoS ONE 7(3):e32473.
Fu, X., Wan, S., Lyu, Y. L., Liu, L. F. and Qi, H. (2008). "Etoposide induces ATM-dependent mitochondrial biogenesis through AMPK activation." PLoS ONE 3(4):e2009.
Fujii, H., Mori, Y., Kayamori, K., Igari, T., Ito, E., Akashi, T., Noguchi, Y., Kitamura, K., Okado, T., Terada, Y., Kanda, E., Rai, T., Uchida, S. and Sasaki, S. (2008). "A familial case of mitochondrial disease resembling Alport syndrome." Clin Exp Nephrol 12(2):159-163.
Fujii, T., Hattori, H., Higuchi, Y., Tsuji, M. and Mitsuyoshi, I. (1998). "Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome." Pediatric Neurology 18(3):275-277.
Fujii, T., Takase, K. I., Honda, H., Kawamura, N., Yamasaki, R., Urata, M., Uchiumi, T., Iwaki, T. and Kira, J. I. (2019). "Toxic myopathy with multiple deletions in mitochondrial DNA associated with long-term use of oral anti-viral drugs for hepatitis B: a case study." Neuropathology 39(2):162-167.
Fujita, Y., Ito, M., Nozawa, Y., Yoneda, M., Oshida, Y. and Tanaka, M. (2007). "CHOP (C/EBP homologous protein) and ASNS (asparagine synthetase) induction in cybrid cells harboring MELAS and NARP mitochondrial DNA mutations." Mitochondrion 7(1-2):80-88.
Fujitake, J., Mizuta, H., Fujii, H., Ishikawa, Y., Sasamoto, K., Goto, Y., Nonaka, I. and Tatsuoka, Y. (2002). "Leber's hereditary optic neuropathy with intracranial arteriovenous malformation: a case report." Acta Neurologica Belgica 102(2):82-86.
Fuku, N., Oshida, Y., Takeyasu, T., Guo, L. J., Kurata, M., Yamada, Y., Sato, Y. and Tanaka, M. (2002). "Mitochondrial ATPase subunit 6 and cytochrome B gene polymorphisms in young obese adults." Biochemical and Biophysical Research Communications 290(4):1199-1205.
Fuku, N., Pareja-Galeano, H., Zempo, H., Alis, R., Arai, Y., Lucia, A. and Hirose, N. (2015). "The mitochondrial-derived peptide MOTS-c: a player in exceptional longevity?" Aging Cell 14(6):921-923.
Fuku, N., Park, K. S., Yamada, Y., Nishigaki, Y., Cho, Y. M., Matsuo, H., Segawa, T., Watanabe, S., Kato, K., Yokoi, K., Nozawa, Y., Lee, H. K. and Tanaka, M. (2007). "Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians." American Journal of Human Genetics 80(3):407-415.
Fukuda, M. and Nagao, Y. (2019). "Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report." Journal of Medical Case Reports 13(1):313.
Fukuhara, N. (1995). "Clinicopathological features of MERRF." Muscle and Nerve 3(4):S90-S94.
Fukui, M., Nakano, K., Obayashi, H., Kitagawa, Y., Nakamura, N., Mori, H., Kajiyama, S., Wada, S., Fujii, M., Yoshimori, K., Kanaitsuka, T., Shigeta, H. and Kondo, M. (1997). "High prevalence of mitochondrial diabetes mellitus in Japanese patients with major risk factors." Metabolism: Clinical & Experimental 46(7):793-795.
Fukunaga, Y., Azuma, N., Koshiyama, H., Inoue, D., Sato, H., Yoshimasa, Y. and Nakao, K. (1997). "Mitochondrial DNA 3243 mutation is infrequent in Japanese diabetic patients with auditory disturbance [letter; comment]." Diabetes Care 20(11):1800-1803.
Fukushima, K. and Fiocchi, C. (2004). "Paradoxical decrease of mitochondrial DNA deletions in epithelial cells of active ulcerative colitis patients." American Journal of Physiology - Gastrointestinal and Liver Physiology 286(5):G804-G813.
Fukushima, S., Honda, K., Awane, M., Yamamoto, E., Takeda, R., Kaneko, I., Tanaka, A., Morimoto, T., Tanaka, K. and Yamaoka, Y. (1995). "The frequency of 4977 base pair deletion of mitochondrial DNA in various types of liver disease and in normal liver." Hepatology 21(6):1547-1551.
Fukuyama, R., Wadhwani, K., C., Galdzicki, Z., Rapoport, S. I. and Ehrenstein, G. (1994). "Beta-amyloid polypeptide increases calcium-uptake in PC12 cells: a possible mechanism for its cellular toxicity in Alzheimer's disease." Brain Research 667(2):269-272.
Funakawa, I., Kato, H., Terao, A., Ichihashi, K., Kawashima, S., Hayashi, T., Mitani, K. and Miyazaki, S. (1995). "Cerebellar ataxia in patients with Leber's hereditary optic neuropathy." Journal of Neurology 242(2):75-77.
Funalot, B., Reynier, P., Vighetto, A., Ranoux, D., Bonnefont, J. P., Godinot, C., Malthiery, Y. and Mas, J. L. (2002). "Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy." Annals of Neurology 52(3):374-377.
Furth, P. A., St Onge, L., Boger, H., Gruss, P., Gossen, M., Kistner, A., Bujard, H. and Hennighausen, L. (1994). "Temporal control of gene expression in transgenic mice by a tetracycline-responsive promoter." Proceedings of the National Academy of Sciences of the United States of America 91(20):9302-9306.
Furtwangler, A., Rohrlach, A. B., Lamnidis, T. C., Papac, L., Neumann, G. U., et al. (2020). "Ancient genomes reveal social and genetic structure of Late Neolithic Switzerland " Nature Communications 11:1915, https://doi.org/1910.1038/s41467-41020-15560-x
Furuya, H., Sugimura, T., Yamada, T., Hayashi, K. and Kobayashi, T. (1997). "[A case of incomplete Kearns-Sayre syndrome with a stroke like episode]." Rinsho Shinkeigaku - Clinical Neurology 37(8):680-684.
Fuste, J. M., Wanrooij, S., Jemt, E., Granycome, C. E., Cluett, T. J., Shi, Y., Atanassova, N., Holt, I. J., Gustafsson, C. M. and Falkenberg, M. (2010). "Mitochondrial RNA polymerase is needed for activation of the origin of light-strand DNA replication." Molecular Cell 37(1):67-78.
Gaare, J. J., Nido, G. S., Sztromwasser, P., Knappskog, P. M., Dahl, O., Lund-Johansen, M., Maple-Grodem, J., Alves, G., Tysnes, O. B., Johansson, S., Haugarvoll, K. and Tzoulis, C. (2018). "Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease." Movement Disorders 33(10):1591-1600.
Gabaldon, T. and Huynen, M. A. (2003). "Reconstruction of the proto-mitochondrial metabolism." Science 301(5633):609.
Gabaldon, T. and Huynen, M. A. (2004). "Shaping the mitochondrial proteome." Biochimica et Biophysica Acta 1659(2-3):212-220.
Gadaleta, G., Pepe, G., De Candia, G., Quagliariello, C., Sbisa, E. and Saccone, C. (1989). "The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates." Journal of Molecular Evolution 28(6):497-516.
Gadaleta, M. N., Rainaldi, G., Lezza, A. M. S., Milella, F., Fracasso, F. and Cantatore, P. (1992). "Mitochondrial DNA copy number and mitochondrial DNA deletion in adult and senescent rats." Mutation Research 275(3-6):181-193.
Gajewski, C. D., Lin, M. T., Cudkowicz, M. E., Beal, M. F. and Manfredi, G. (2003). "Mitochondrial DNA from platelets of sporadic ALS patients restores normal respiratory functions in rho(0) cells." Experimental Neurology 179(2):229-235.
Gajewski, C. D., Yang, L., Schon, E. A. and Manfredi, G. (2003). "New insights into the bioenergetics of mitochondrial disorders using intracellular ATP reporters." Molecular Biology of the Cell 14(9):3628-3635.
Gal, A., Pentelenyi, K., Remenyi, V., Pal, Z., Csanyi, B., Tomory, G., Rasko, I. and Molnar, M. J. (2010). "Novel heteroplasmic mutation in the anticodon stem of mitochondrial tRNA(Lys) associated with dystonia and stroke-like episodes." Acta Neurologica Scandinavica 122(4):252-256.
Galante, Y. M. and Hatefi, Y. (1979). "Purification and molecular and enzymic properties of mitochondrial NADH dehydrogenase." Archives of Biochemistry and Biophysics 192(2):559-568.
Galera-Monge, T., Zurita-Diaz, F., Garesse, R. and Gallardo, M. E. (2019). "The mutation m.13513G>A impairs cardiac function, favoring a neuroectoderm commitment, in a mutant-load dependent way." Journal of Cellular Physiology 234(11):19511-19522.
Galiegue, S., Jbilo, O., Combes, T., Bribes, E., Carayon, P., Le Fur, G. and Casellas, P. (1999). "Cloning and characterization of PRAX-1. A new protein that specifically interacts with the peripheral benzodiazepine receptor." Journal of Biological Chemistry 274(5):2938-2952.
Galimberti, C. A., Diegoli, M., Sartori, I., Uggetti, C., Brega, A., Tartara, A. and Arbustini, E. (2006). "Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation." Neurology 67(9):1715-1717.
Gallagher, C. L., Waclawik, A. J., Beinlich, B. R., Harding, C. O., Pauli, R. M., Poirer, J., Pandolfo, M. and Salamat, M. S. (2002). "Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report." Journal of Child Neurology 17(6):453-456.
Gammage, P. A., Gaude, E., Van Haute, L., Rebelo-Guiomar, P., Jackson, C. B., Rorbach, J., Pekalski, M. L., Robinson, A. J., Charpentier, M., Concordet, J. P., Frezza, C. and Minczuk, M. (2016). "Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs." Nucleic Acids Research 44(16):7804-7816.
Gammage, P. A., Viscomi, C., Simard, M. L., Costa, A. S. H., Gaude, E., Powell, C. A., Van Haute, L., McCann, B. J., Rebelo-Guiomar, P., Cerutti, R., Zhang, L., Rebar, E. J., Zeviani, M., Frezza, C., Stewart, J. B. and Minczuk, M. (2018). "Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo." Nature Medicine 24(11):1691-1695.
Gamez, J., Playan, A., Andreu, A. L., Bruno, C., Navarro, C., Cervera, C., Arbos, M. A., Schwartz, S., Enriquez, J. A. and Montoya, J. (1998). "Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA." Neurology 51(1):258-260.
Ganetzky, R. D. and Falk, M. J. (2018). "8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease." Molecular Genetics and Metabolism 123(3):301-308.
Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T. and Falk, M. J. (2019). "MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases." Human Mutation 40(5):499-515.
Gao, S., Tian, X., Chang, H., Sun, Y., Wu, Z., Cheng, Z., Dong, P., Zhao, Q., Ruan, J. and Bu, W. (2018). "Two novel lncRNAs discovered in human mitochondrial DNA using PacBio full-length transcriptome data." Mitochondrion 38:41-47.
Gao, W., Xu, K., Li, P. and Tang, B. (2011). "Functional roles of superoxide and hydrogen peroxide generated by mitochondrial DNA mutation in regulating tumorigenicity of HepG2 cells". Cell Biochemistry and Function 29(5):400-407.
Garcia-Cazorla, A., Quadros, E. V., Nascimento, A., Garcia-Silva, M. T., Briones, P., Montoya, J., Ormazabal, A., Artuch, R., Sequeira, J. M., Blau, N., Arenas, J., Pineda, M. and Ramaekers, V. T. (2008). "Mitochondrial diseases associated with cerebral folate deficiency." Neurology 70(16):1360-1362.
Garcia-Lopez, M., Arenas, J. and Gallardo, M. E. (2021). "Hereditary optic neuropathies: induced pluripotent stem cell-based 2D/3D approaches." Genes (Basel) 12(1):112.
Garcia-Velasco, A., Gomez-Escalonilla, C., Guerra-Vales, J. M., Cabello, A., Campos, Y. and Arenas, J. (2003). "Intestinal pseudo-obstruction and urinary retention: cardinal features of a mitochondrial DNA-related disease." Journal of Internal Medicine 253(3):381-385.
Garcia, S., Lopez-Hernandez, L., Davila-Maldonado, L., Cuevas-Garcia, C., Gallegos-Arreola, M., Alcaraz-Estrada, S., Cortes-Espinosa, L., Flores, C., Canto, P. and Vazquez, R. (2019). "Association of mitochondrial variants A4336G of the tRNAGln gene and 8701G/A of the MT-ATP6 gene in Mexicans Mestizos with Parkinson disease." Folia Neuropathologica 57(4):335-339.
Gardner, J. C., Goliath, R., Viljoen, D., Sellars, S., Cortopassi, G., Hutchin, T., Greenberg, J. and Beighton, P. (1997). "Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder." Journal of Medical Genetics 34(11):904-906.
Gardner, K., Payne, B. A., Horvath, R. and Chinnery, P. F. (2015). "Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA." European Journal of Human Genetics 23(3):413-415.
Gardner, P. R., Nguyen, D. D. and White, C. W. (1996). "Superoxide scavenging by Mn(II/III) tetrakis (1-methyl-4-pyridyl) porphyrin in mammalian cells." Archives of Biochemistry & Biophysics 325(1):20-28.
Garesse, R. and Vallejo, C. G. (2001). "Animal mitochondrial biogenesis and function: a regulatory cross-talk between two genomes." Gene 263(1-2):1-16.
Garrido, N., Griparic, L., Jokitalo, E., Wartiovaara, J., van der Bliek, A. M. and Spelbrink, J. N. (2003). "Composition and dynamics of human mitochondrial nucleoids." Molecular Biology of the Cell 14(4):1583-1596.
Garritsen, H. S., Szuflad, P., Sibrowski, W. and Dzik, W. H. (1997). "A sequence-specific polymerase chain reaction assay for mitochondrial DNA polymorphisms in human platelets and white cells." Transfusion 37(10):1012-1019.
Gary, A. S., Dorr, M. M. and Rochette, P. J. (2021). "The T414G mitochondrial DNA mutation: a biomarker of ageing in human eye." Mutagenesis 36(2):187-192.
Gasparre, G., Porcelli, A. M., Bonora, E., Pennisi, L. F., Toller, M., Iommarini, L., Ghelli, A., Moretti, M., Betts, C. M., Martinelli, G. N., Ceroni, A. R., Curcio, F., Carelli, V., Rugolo, M., Tallini, G. and Romeo, G. (2007). "Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors." Proceedings of the National Academy of Sciences of the United States of America 104(21):9001-9006.
Gattermann, N. (2000). "From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndromes." Leukemia Research 24(2):141-151.
Gattermann, N. (2004). "Mitochondrial DNA mutations in the hematopoietic system." Leukemia 18(1):18-22.
Gattermann, N., Berneburg, M., Heinisch, J., Aul, C. and Schneider, W. (1995). "Detection of the ageing-associated 5-Kb common deletion of mitochondrial DNA in blood and bone marrow of hematologically normal adults. Absence of the deletion in clonal bone marrow disorders." Leukemia 9(10):1704-1710.
Gattermann, N., Dadak, M., Hofhaus, G., Wulfert, M., Berneburg, M., Loeffler, M. L. and Simmonds, H. A. (2004). "Severe impairment of nucleotide synthesis through inhibition of mitochondrial respiration." Nucleosides, Nucleotides and Nucleic Acids 23(8-9):1275-1279.
Gattermann, N., Retzlaff, S., Wang, Y. L., Berneburg, M., Heinisch, J., Wlaschek, M., Aul, C. and Schneider, W. (1996). "A heteroplasmic point mutation of mitochondrial tRNALeu(CUN) in non-lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroblastic anaemia." British Journal of Haematology 93(4):845-855.
Gattermann, N., Retzlaff, S., Wang, Y. L., Hofhaus, G., Heinisch, J., Aul, C. and Schneider, W. (1997). "Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia." Blood 90(12):4961-4972.
Gattermann, N., Wulfert, M. and Hofhaus, G. (2002). "How frequent is mutation in the mitochondrial cytochrome c oxidase gene in patients with myelodysplastic syndromes?" British Journal of Haematology 119(4):1139; author reply 1139-1140.
Gattermann, N., Wulfert, M., Junge, B., Germing, U., Haas, R. and Hofhaus, G. (2004). "Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome." Blood 103(4):1499-1502.
Gaude, E., Schmidt, C., Gammage, P. A., Dugourd, A., Blacker, T., Chew, S. P., Saez-Rodriguez, J., O'Neill, J. S., Szabadkai, G., Minczuk, M. and Frezza, C. (2018). "NADH shuttling couples cytosolic reductive carboxylation of glutamine with glycolysis in cells with mitochondrial dysfunction." Molecular Cell 69(4):581-593 e587.
Gavish, M., Bar-Ami, S. and Weizman, R. (1992). "The endocrine system and mitochondrial benzodiazepine receptors." Molecular and Cellular Endocrinology 88(1-3):1-13.
Gavish, M., Katz, Y., Bar-Ami, S. and Weizman, R. (1992). "Biochemical, physiological, and pathological aspects of the peripheral benzodiazepine receptor." Journal of Neurochemistry 58(5):1589-1601.
Gaweda-Walerych, K., Maruszak, A., Safranow, K., Bialecka, M., Klodowska-Duda, G., Czyzewski, K., Slawek, J., Rudzinska, M., Styczynska, M., Opala, G., Drozdzik, M., Canter, J. A., Barcikowska, M. and Zekanowski, C. (2008). "Mitochondrial DNA haplogroups and subhaplogroups are associated with Parkinson's disease risk in a Polish PD cohort." Journal of Neural Transmission 115(11):1521-1526.
Gaweda-Walerych, K., Safranow, K., Jasinska-Myga, B., Bialecka, M., Klodowska-Duda, G., Rudzinska, M., Czyzewski, K., Cobb, S. A., Slawek, J., Styczynska, M., Opala, G., Drozdzik, M., Nishioka, K., Farrer, M. J., Ross, O. A., Wszolek, Z. K., Barcikowska, M. and Zekanowski, C. (2012). "PARK2 variability in Polish Parkinson's disease patients--interaction with mitochondrial haplogroups". Parkinsonism and Related Disorders 18(5):520-524.
Gay, N. J. and Walker, J. E. (1985). "Two genes encoding the bovine mitochondrial ATP synthase proteolipid specify precursors with different import sequences and are expressed in a tissue-specific manner." EMBO J 4(13A):3519-3524.
Gelinas, Y., Turcotte, L., Bouchard, C., Thibault, M. C. and Dionne, F. T. (1989). "Mitochondrial DNA polymorphism detected with the restriction enzymes BstNI and BclI in a French Canadian population." Annals of Human Genetics 53(Pt 4):319-325.
Geller, R. B., Saral, R., Piantadosi, S., Zahurak, M., Vogelsang, G. B., Wingard, J. R., Ambinder, R. F., Beschorner, W. B., Braine, H. G., Burns, W. H. and et al. (1989). "Allogeneic bone marrow transplantation after high-dose busulfan and cyclophosphamide in patients with acute nonlymphocytic leukemia." Blood 73(8):2209-2218.
Gellerich, F. N., Deschauer, M., Chen, Y., Muller, T., Neudecker, S. and Zierz, S. (2002). "Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size." Biochimica et Biophysica Acta 1556(1):41-52.
Gellerich, F. N., Trumbeckaite, S., Chen, Y., Deschauer, M., Müller, T. and Zierz, S. (2002). "Energetic depression caused by mitochondrial dysfunction." European Cytokine Network 13(4):395-397.
Genasetti, A., Valentino, M. L., Carelli, V., Vigetti, D., Viola, M., Karousou, E. G., Melzi d'Eril, G. V., De Luca, G., Passi, A. and Pallotti, F. (2007). "Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach." Journal of Molecular Diagnostics 9(4):538-545.
GenBank Sequence (2000). "NC_001807: Homo sapiens mitochondrion, complete genome." Haplogroup L3.
Gennis, R. and Ferguson-Miller, S. (1995). "Structure of cytochrome c oxidase, energy generator of aerobic life." Science 269(5227):1063-1064.
Geny, C., Cormier, V., Meyrignac, C., Cesaro, P., Degos, J., Gherardi, R. and Rotig, A. (1991). "Muscle mitochondrial DNA in encephalomyopathy and ragged red fibers: a Southern blot analysis and literature review." Journal of Neurology 238(3):171-176.
Gerards, M., Sallevelt, S. C. and Smeets, H. J. (2016). "Leigh syndrome: resolving the clinical and genetic heterogeneity paves the way for treatment options." Molecular Genetics and Metabolism 117(3):300-312.
Gerber, A. S., Loggins, R., Kumar, S. and Dowling, T. E. (2001). "Does nonneutral evolution shape observed patterns of DNA variation in animal mitochondrial genomes?" Annual Review of Genetics 35:539-566.
Gerbitz, K. D. (1993). "Does the mitochondrial DNA play a role in the pathogenesis of diabetes?" Diabetologia 35(12):1181-1186.
Gerbitz, K. D. and Jaksch, M. (1994). "Mitochondrial DNA, aging and sudden infant death syndrome." European Journal of Clinical Chemistry and Clinical Biochemistry 32(6):487-488.
Gerbitz, K. D., Gempel, K. and Brdiczka, D. (1996). "Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit." Diabetes 45(2):113-126.
Gerbitz, K. D., Obermaier-Kusser, B., Zierz, S., Pongratz, D., Muller-Hocker, J. and Lestienne, P. (1990). "Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes." Journal of Neurology 237(1):5-10.
Gerbitz, K. D., Paprotta, A., Jaksch, M., Zierz, S. and Drechsel, J. (1993). "Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene." FEBS Letters 321(2-3):194-196.
Gerbitz, K. D., van den Ouweland, J. M., Maassen, J. A. and Jaksch, M. (1995). "Mitochondrial diabetes mellitus: a review." Biochimica et Biophysica Acta 1271(1):253-260.
German, M. S. (1993). "Glucose sensing in pancreatic islet beta cells: the key role of glucokinase and the glycolytic intermediates." Proceedings of the National Academy of Sciences of the United States of America 90(5):1781-1785.
Geromel, V., Kadhom, N., Cebalos-Picot, I., Ouari, O., Polidori, A., Munnich, A., Rotig, A. and Rustin, P. (2001). "Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA." Human Molecular Genetics 10(11):1221-1228.
Gervais, F. G., Xu, D., Robertson, G. S., Vaillancourt, J. P., Zhu, Y., Huang, J., LeBlanc, A., Smith, D., Rigby, M., Shearman, M. S., Clarke, E. E., Zheng, H., Van Der Ploeg, L. H. T., Ruffolo, S. C., Thornberry, N. A., Xanthoudakis, S., Zamboni, R. J., Roy, S. and Nicholson, D. W. (1999). "Involvement of caspases in proteolytic cleavage of Alzheimer's amyloid-ß precursor protein and amyloidogenic Aß peptide formation." Cell 97(3):395-406.
Gesi, M., Riva, A., Soldani, P., Fornai, F., Natale, G., Lenzi, P., Pellegrini, A. and Paparelli, A. (1999). "Central and peripheral benzodiazepine ligands prevent mitochondrial damage induced by noise exposure in the rat myocardium: an ultrastructural study." The Anatomical Record 255(3):334-341.
Geurts-Giele, W. R., Gathier, G. H., Atmodimedjo, P. N., Dubbink, H. J. and Dinjens, W. N. (2015). "Mitochondrial D310 mutation as clonal marker for solid tumors." Virchows Archiv 467(5):595-602.
Geurts van Kessel, A. H., Westerveld, A., de Groot, P. G., Meera Khan, P. and Hagemeijer, A. (1980). "Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22." Cytogenetics and Cell Genetics 28(3):169-172.
Ghattas, I. R., Sanes, J. R. and Majors, J. E. (1991). "The encephalomyocarditis virus internal ribosome entry site allows efficient coexpression of two genes from a recombinant provirus in cultured cells and in embryos." Molecular and Cellular Biology 11(12):5848-5859.
Ghazal, N., Peoples, J. N., Mohiuddin, T. A. and Kwong, J. Q. (2021). "Mitochondrial functional resilience after TFAM ablation in the adult heart." American Journal of Physiology. Cell Physiology 320(6):C929-C942.
Ghelli, A., Degli Esposti, M., Carelli, V. and Lenaz, G. (1997). "Changes in mitochondrial complex I activity and coenzyme Q binding site in Leber's hereditary optic neuropathy (LHON)." Molecular Aspects of Medicine 18 Suppl:S263-267.
Ghelli, A., Porcelli, A. M., Zanna, C., Martinuzzi, A., Carelli, V. and Rugolo, M. (2008). "Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids." Investigative Ophthalmology and Visual Science 49(2):671-676.
Ghelli, A., Porcelli, A. M., Zanna, C., Vidoni, S., Mattioli, S., Barbieri, A., Iommarini, L., Pala, M., Achilli, A., Torroni, A., Rugolo, M. and Carelli, V. (2009). "The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity." PLoS ONE 4(11):e7922.
Ghelli, A., Tropeano, C. V., Calvaruso, M. A., Marchesini, A., Iommarini, L., Porcelli, A. M., Zanna, C., De Nardo, V., Martinuzzi, A., Wibrand, F., Vissing, J., Kurelac, I., Gasparre, G., Selamoglu, N., Daldal, F. and Rugolo, M. (2013). "The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes." Human Molecular Genetics 22(11):2141-2151.
Ghelli, A., Zanna, C., Porcelli, A. M., Schapira, A. H., Martinuzzi, A., Carelli, V. and Rugolo, M. (2003). "Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium." Journal of Biological Chemistry 278(6):4145-4150.
Ghezzi, D., Marelli, C., Achilli, A., Goldwurm, S., Pezzoli, G., et al. (2005). "Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians." European Journal of Human Genetics 13(6):748-752.
Ghezzi, D., Saada, A., D'Adamo, P., Fernandez-Vizarra, E., Gasparini, P., Tiranti, V., Elpeleg, O. and Zeviani, M. (2008). "FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency." American Journal of Human Genetics 83(3):415-423.
Ghivizzani, S. C., Madsen, C. S. and Hauswirth, W. W. (1993). "In organello footprinting. Analysis of protein binding at regulatory regions in bovine mitochondrial DNA." Journal of Biological Chemistry 268(12):8675-8682.
Ghivizzani, S. C., Madsen, C. S., Ammini, C. V. and Hauswirth, W. W. (2002). "In organello footprinting of mtDNA." Methods in Molecular Biology 197:363-375.
Ghivizzani, S. C., Madsen, C. S., Nelen, M. R., Ammini, C. V. and Hauswirth, W. W. (1994). "In organello footprint analysis of human mitochondrial DNA: human mitochondrial transcription factor A interactions at the origin of replication." Molecular and Cellular Biology 14(12):7717-7730.
Ghosh, S. S., Fahy, E., Bodis-Wollner, I., Sherman, J. and Howell, N. (1996). "Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing." American Journal of Human Genetics 58(2):325-334.
Ghosh, S. S., Swerdlow, R. H., Miller, S. W., Sheeman, B., Parker, W. D., Jr. and Davis, R. E. (1999). "Use of cytoplasmic hybrid cell lines for elucidating the role of mitochondrial dysfunction in Alzheimer's disease and Parkinson's disease." Annals of the New York Academy of Sciences 893:176-191.
Giacchetti, M., Monticelli, A., De Biase, I., Pianese, L., Turano, M., Filla, A., De Michele, G. and Cocozza, S. (2004). "Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype." Journal of Medical Genetics 41(4):293-295.
Giampieri, C., Centurelli, M., Bonafe, M., Olivieri, F., Cardelli, M., Marchegiani, F., Cavallone, L., Giovagnetti, S., Mugianesi, E., Carrieri, G., Lisa, R., Cenerelli, S., Testa, R., Boemi, M., Petropoulou, C., Gonos, E. S. and Franceschi, C. (2004). "A novel mitochondrial DNA-like sequence insertion polymorphism in Intron I of the FOXO1A gene." Gene 327(2):215-219.
Gianotti, T. F., Sookoian, S., Dieuzeide, G., Garcia, S. I., Gemma, C., Gonzalez, C. D. and Pirola, C. J. (2008). "A decreased mitochondrial DNA content is related to insulin resistance in adolescents." Obesity 16(7):1591-1595.
Gibbons, A. (1998). "Calibrating the mitochondrial clock [news]." Science 279(5347):28-29.
Gibbs, R. A., Weinstock, G. M., Metzker, M. L., Muzny, D. M., Sodergren, E. J., et al. (2004). "Genome sequence of the Brown Norway rat yields insights into mammalian evolution." Nature 428(6982):493-521.
Gidh-Jain, M., Takeda, J., Xu, L. Z., Lange, A. J., Vionnet, N., et al. (1993). "Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships." Proceedings of the National Academy of Sciences of the United States of America 90(5):1932-1936.
Gigarel, N., Hesters, L., Samuels, D. C., Monnot, S., Burlet, P., Kerbrat, V., Lamazou, F., Benachi, A., Frydman, R., Feingold, J., Rotig, A., Munnich, A., Bonnefont, J. P., Frydman, N. and Steffann, J. (2011). "Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans". American Journal of Human Genetics 88(4):494-498.
Gigarel, N., Ray, P. F., Burlet, P., Frydman, N., Royer, G., Lebon, S., Bonnefont, J. P., Frydman, R., Munnich, A. and Steffann, J. (2005). "Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR." Molecular Genetics and Metabolism 84(3):289-292.
Gilbert, M. T., Willerslev, E., Hansen, A. J., Barnes, I., Rudbeck, L., Lynnerup, N. and Cooper, A. (2003). "Distribution patterns of postmortem damage in human mitochondrial DNA. [erratum appears in Am J Hum Genet. 2003 Mar;72(3):779]." American Journal of Human Genetics 72(1):32-47.
Giles, R. E., Blanc, H., Cann, H. M. and Wallace, D. C. (1980). "Maternal inheritance of human mitochondrial DNA." Proceedings of the National Academy of Sciences of the United States of America 77(11):6715-6719.
Giles, R. E., Stroynowski, I. and Wallace, D. C. (1980). "Characterization of mitochondrial DNA in chloramphenicol-resistant interspecific hybrids and a cybrid." Somatic Cell Genetics 6(4):543-554.
Gilkerson, R. W. (2009). "Mitochondrial DNA nucleoids determine mitochondrial genetics and dysfunction." The International Journal of Biochemistry and Cell Biology 41(10):1899-1906.
Gilkerson, R. W., De Vries, R. L., Lebot, P., Wikstrom, J. D., Torgyekes, E., Shirihai, O. S., Przedborski, S. and Schon, E. A. (2012). "Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition". Human Molecular Genetics 21(5):978-990.
Gilkerson, R. W., Selker, J. M. and Capaldi, R. A. (2003). "The cristal membrane of mitochondria is the principal site of oxidative phosphorylation." FEBS Letters 546(2-3):355-358.
Gill-Randall, R., Sherratt, E. J., Thomas, A. W., Gagg, J. W., Lee, A. and Alcolado, J. C. (2001). "Analysis of a polycytosine tract and heteroplasmic length variation in the mitochondrial DNA D-loop of patients with diabetes, MELAS syndrome and race-matched controls." Diabetic Medicine 18(5):413-416.
Gill, J. S., Hardy, S. A., Blakely, E. L., Hopton, S., Nemeth, A. H., Fratter, C., Poulton, J., Taylor, R. W. and Downes, S. M. (2017). "Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant." British Journal of Ophthalmology 101(9):1298-1302.
Gill, P., Ivanov, P. L., Kimpton, C., Piercy, R., Benson, N., Tully, G., Evett, I., Hagelberg, E. and Sullivan, K. (1994). "Identification of the remains of the Romanov family by DNA analysis [see comments]." Nature Genetics 6(2):130-135.
Gill, P., Kimpton, C., Aliston-Greiner, R., Sullivan, K., Stoneking, M., Melton, T., Nott, J., Barritt, S., Roby, R., Holland, M. and Weedn, V. (1995). "Establishing the identity of Anna Anderson Manahan." Nature Genetics 9(1):9-10.
Gillis, L. A. and Sokol, R. J. (2003). "Gastrointestinal manifestations of mitochondrial disease." Gastroenterology Clinics of North America 32(3):789-817, v.
Gillum, A. M. and Clayton, D. A. (1978). "Displacement-loop replication initiation sequence in animal mitochondrial DNA exists as a family of discrete lengths." Proceedings of the National Academy of Sciences of the United States of America 75(2):677-681.
Gillum, A. M. and Clayton, D. A. (1979). "Mechanism of mitochondrial DNA replication in mouse L-cells: RNA priming during the initiation of heavy-strand synthesis." Journal of Molecular Biology 135(2):353-368.
Gimsa, U., Kanitz, E., Otten, W. and Ibrahim, S. M. (2009). "Behavior and stress reactivity in mouse strains with mitochondrial DNA variations." Annals of the New York Academy of Sciences 1153:131-138.
Ginther, C., Corach, D., Penacino, G. A., Rey, J. A., Carnese, F. R., Hutz, M. H., Anderson, A., Just, J., Salzano, F. M. and King, M.-C. (1993). "Genetic variation among the Mapuche Indians from the Patagonian region of Argentina: mitochondrial DNA sequence variation and allele frequencies of several nuclear genes." EXS 67(-):211-219.
Giordano, C., Iommarini, L., Giordano, L., Maresca, A., Pisano, A., et al. (2014). "Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy." Brain 137(Pt 2):335-353.
Giordano, C., Montopoli, M., Perli, E., Orlandi, M., Fantin, M., Ross-Cisneros, F. N., Caparrotta, L., Martinuzzi, A., Ragazzi, E., Ghelli, A., Sadun, A. A., d'Amati, G. and Carelli, V. (2011). "Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy." Brain 134(Pt 1):220-234.
Giordano, C., Pallotti, F., Walker, W. F., Checcarelli, N., Musumeci, O., Santorelli, F., d'Amati, G., Schon, E. A., DiMauro, S., Hirano, M. and Davidson, M. M. (2002). "Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation." Biochemical and Biophysical Research Communications 293(1):521-529.
Giordano, C., Sebastiani, M., Plazzi, G., Travaglini, C., Sale, P., Pinti, M., Tancredi, A., Liguori, R., Montagna, P., Bellan, M., Valentino, M. L., Cossarizza, A., Hirano, M., d'Amati, G. and Carelli, V. (2006). "Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine." Gastroenterology 130(3):893-901.
Giorgi, C., De Stefani, D., Bononi, A., Rizzuto, R. and Pinton, P. (2009). "Structural and functional link between the mitochondrial network and the endoplasmic reticulum". International Journal of Biochemistry and Cell Biology 41(10):1817-1827.
Giorgio, V., Petronilli, V., Ghelli, A., Carelli, V., Rugolo, M., Lenaz, G. and Bernardi, P. (2012). "The effects of idebenone on mitochondrial bioenergetics". Biochimica et Biophysica Acta 1817(2):363-369.
Giraud, S., Bonod-Bidaud, C., Wesolowski-Louvel, M. and Stepien, G. (1998). "Expression of human ANT2 gene in highly proliferative cells: GRBOX, a new transcriptional element, is involved in the regulation of glycolytic ATP import into mitochondria." Journal of Molecular Biology 281(3):409-418.
Giroix, M. H., Rasschaert, J., Bailbe, D., Leclercq-Meyer, V., Sener, A., Portha, B. and Malaisse, W. J. (1991). "Impairment of glycerol phosphate shuttle in islets from rats with diabetes induced by neonatal streptozocin." Diabetes 40(2):227-232.
Gitlin, S. A., Gibbons, W. E. and Gosden, R. G. (2003). "Oocyte biology and genetics revelations from polar bodies." Reproductive Biomedicine Online 6(4):403-409.
Glatz, C., D'Aco, K., Smith, S. and Sondheimer, N. (2011). "Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes". Mitochondrion 11(4):615-619.
Glick, B. and Schatz, G. (1991). "Import of proteins into mitochondria." Annual Review of Genetics 25:21-44.
Glick, B. S., Beasley, E. M. and Schatz, G. (1992). "Protein sorting in mitochondria." Trends in Biochemical Sciences 17(11):453-459.
Glick, B. S., Wachter, C. and Schatz, G. (1992). "The energetics of protein import into mitochondria." Biochimica et Biophysica Acta 1101(2):249-251.
Goate, A., Chartier-Harlin, M. C., Mullan, M., Brown, J., Crawford, F., et al. (1991). "Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease [see comments]." Nature 349(6311):704-706.
Godbout, R., Bisgrove, D. A., Honore, L. H. and Day, R. S. d. (1993). "Amplification of the gene encoding the alpha-subunit of the mitochondrial ATP synthase complex in a human retinoblastoma cell line." Gene 123(2):195-201.
Godbout, R., Pandita, A., Beatty, B., Bie, W. and Squire, J. A. (1997). "Comparative genomic hybridization analysis of Y79 and FISH mapping indicate the amplified human mitochondrial ATP synthase alpha-subunit gene (ATP5A) maps to chromosome 18q12-->q21." Cytogenetics and Cell Genetics 77(3-4):253-256.
Goffart, S., Cooper, H. M., Tyynismaa, H., Wanrooij, S., Suomalainen, A. and Spelbrink, J. N. (2009). "Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling." Human Molecular Genetics 18(2):328-340.
Gokcumen, O., Dulik, M. C., Pai, A. A., Zhadanov, S. I., Rubinstein, S., Osipova, L. P., Andreenkov, O. V., Tabikhanova, L. E., Gubina, M. A., Labuda, D. and Schurr, T. G. (2008). "Genetic variation in the enigmatic Altaian Kazakhs of South-Central Russia: insights into Turkic population history." American Journal of Physical Anthropology 136(3):278-293.
Golbe, L. I., Di Iorio, G., Bonavita, V., Miller, D. C. and Duvoisin, R. C. (1990). "A large kindred with autosomal dominant Parkinson's disease." Annals of Neurology 27(3):276-282.
Gold, M., Rapin, I. and Shanske, S. (1991). "Mitochondrial inheritance of acquired deafness." Annals of the New York Academy of Sciences 630:301-302.
Goldhaber, J. I. and Weiss, J. N. (1992). "Oxygen free radicals and cardiac reperfusion abnormalities." Hypertension 20(1):118-127.
Goldstein, J. D., Shanske, S., Bruno, C. and Perszyk, A. A. (1999). "Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene." Pediatric & Developmental Pathology 2(1):78-85.
Gomez-Duran, A., Pacheu-Grau, D., Lopez-Gallardo, E., Diez-Sanchez, C., Montoya, J., Lopez-Perez, M. J. and Ruiz-Pesini, E. (2010). "Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups." Human Molecular Genetics 19(17):3343-3353.
Gomez-Duran, A., Pacheu-Grau, D., Martinez-Romero, I., Lopez-Gallardo, E., Lopez-Perez, M. J., Montoya, J. and Ruiz-Pesini, E. (2012). "Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy." Biochimica et Biophysica Acta 1822(8):1216-1222.
Gonçalves, V. F., Parra, F. C., Gonçalves-Dornelas, H., Rodrigues-Carvalho, C., Silva, H. P. and Pena, S. D. (2010). "Recovering mitochondrial DNA lineages of extinct Amerindian nations in extant homopatric Brazilian populations". Investigative Genetics 1(1):13.
Gong, D. W., He, Y., Karas, M. and Reitman, M. (1997). "Uncoupling protein-3 is a mediator of thermogenesis regulated by thyroid hormone, beta3-adrenergic agonists, and leptin." Journal of Biological Chemistry 272(39):24129-24132.
Gong, S., Peng, Y., Jiang, P., Wang, M., Fan, M., Wang, X., Zhou, H., Li, H., Yan, Q., Huang, T. and Guan, M. X. (2014). "A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential." Nucleic Acids Research 42(12):8039-8048.
Gong, S., Wang, X., Meng, F., Cui, L., Yi, Q., Zhao, Q., Cang, X., Cai, Z., Mo, J. Q., Liang, Y. and Guan, M. X. (2020). "Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNA(His) mutation." The Journal of Biological Chemistry 295(4):940-954.
Gonzalez-Halphen, D., Funes, S., Perez-Martinez, X., Reyes-Prieto, A., Claros, M. G., Davidson, E. and King, M. P. (2004). "Genetic correction of mitochondrial diseases: using the natural migration of mitochondrial genes to the nucleus in chlorophyte algae as a model system." Annals of the New York Academy of Sciences 1019:232-239.
Gonzalez-Halphen, D., Lindorfer, M. A. and Capaldi, R. A. (1988). "Subunit arrangement in beef heart complex III." Biochemistry 27:7021-7031.
Gonzalez-Vioque, E., Blazquez, A., Fernandez-Moreira, D., Bornstein, B., Bautista, J., Arpa, J., Navarro, C., Campos, Y., Fernandez-Moreno, M. A., Garesse, R., Arenas, J. and Martin, M. A. (2006). "Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population." Archives of Neurology 63(1):107-111.
Gonzalez-Vioque, E., Bornstein, B., Gallardo, M. E., Fernandez-Moreno, M. A. and Garesse, R. (2014). "The pathogenicity scoring system for mitochondrial tRNA mutations revisited." Molecular Genetics and Genomic Medicine 2(2):107-114.
Gonzalez, A. M., Brehm, A., Perez, J. A., Maca-Meyer, N., Flores, C. and Cabrera, V. M. (2003). "Mitochondrial DNA affinities at the Atlantic fringe of Europe". American Journal of Physical Anthropology 120(4):391-404.
Gonzalez, A. M., Larruga, J. M., Abu-Amero, K. K., Shi, Y., Pestano, J. and Cabrera, V. M. (2007). "Mitochondrial lineage M1 traces an early human backflow to Africa." BMC Genomics 8:223.
Gonzalo, R., Garcia-Arumi, E., Llige, D., Marti, R., Solano, A., Montoya, J., Arenas, J. and Andreu, A. L. (2005). "Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA." FEBS Letters 579(30):6909-6913.
Goodman, S. I., Axtell, K. M., Bindoff, L. A., Beard, S. E., Gill, R. E. and Frerman, F. E. (1994). "Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase." European Journal of Biochemistry 219(1-2):277-286.
Gorman, G. S., Blakely, E. L., Hornig-Do, H. T., Tuppen, H. A., Greaves, L. C., He, L., Baker, A., Falkous, G., Newman, J., Trenell, M. I., Lecky, B., Petty, R. K., Turnbull, D. M., McFarland, R. and Taylor, R. W. (2015). "Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression." Clinical Science 128(12):895-904.
Gorman, G. S., Schaefer, A. M., Ng, Y., Gomez, N., Blakely, E. L., Alston, C. L., Feeney, C., Horvath, R., Yu-Wai-Man, P., Chinnery, P. F., Taylor, R. W., Turnbull, D. M. and McFarland, R. (2015). "Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease." Annals of Neurology 77(5):753-759.
Gossen, M., Freundlieb, S., Bender, G., Muller, G., Hillen, W. and Bujard, H. (1995). "Transcriptional activation by tetracyclines in mammalian cells." Science 268(5218):1766-1769.
Gossen, M., Pak, D. T. and Botchan, M. R. (1996). "Drosophila homolog of yeast ORC: correction [letter]." Science 271(5254):1349.
Goto, Y. (1995). "Clinical features of MELAS and mitochondrial DNA mutations." Muscle and Nerve 3(12):S107-S112.
Goto, Y. (1997). "[Mitochondrial DNA mutations and three major forms of mitochondrial myopathies: CPEO, MELAS and MERRF]." Nippon Rinsho - Japanese Journal of Clinical Medicine 55(12):3259-3264.
Goto, Y. (1998). "[Electron transfer complex I deficiency]." Ryoikibetsu Shokogun Shirizu (19 Pt 2):488-490.
Goto, Y., Horai, S., Matsuoka, T., Koga, Y., Nihei, K., Kobayashi, M. and Nonaka, I. (1992). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation." Neurology 42(3 Pt 1):545-550.
Goto, Y., Koga, Y., Horai, S. and Nonaka, I. (1990). "Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies." Journal of the Neurological Sciences 100(1-2):63-69.
Goto, Y., Nonaka, I. and Horai, S. (1990). "A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies [see comments]." Nature 348(6302):651-653.
Goto, Y., Nonaka, I. and Horai, S. (1991). "A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)." Biochimica et Biophysica Acta 1097(3):238-240.
Goto, Y., Tojo, M., Tohyama, J., Horai, S. and Nonaka, I. (1992). "A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy." Annals of Neurology 31(6):672-675.
Goto, Y., Tsugane, K., Tanabe, Y., Nonaka, I. and Horai, S. (1994). "A new point mutation at nucelotide pair 3291 of the tRNALeu(UUR) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)." Biochemical and Biophysical Research Communications 202(3):1624-1630.
Gotz, A., Isohanni, P., Liljestrom, B., Rummukainen, J., Nikolajev, K., Herrgard, E., Marjavaara, S. and Suomalainen, A. (2012). "Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation". Pediatric Research 72(1):90-94.
Goudenege, D., Bris, C., Hoffmann, V., Desquiret-Dumas, V., Jardel, C., Rucheton, B., Bannwarth, S., Paquis-Flucklinger, V., Lebre, A. S., Colin, E., Amati-Bonneau, P., Bonneau, D., Reynier, P., Lenaers, G. and Procaccio, V. (2019). "eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data." Genetics in Medicine 21(6):1407-1416.
Gould, S. J., Subramani, S. and Scheffler, I. E. (1989). "Use of the DNA polymerase chain reaction for homology probing: isolation of partial cDNA or genomic clones encoding the iron-sulfur protein of succinate dehydrogenase from several species [published erratum appears in Proc Natl Acad Sci U S A , 1993 Mar 15, 90(6): 2556]." Proceedings of the National Academy of Sciences of the United States of America 86(6):1934-1938.
Govan, G. G., Smith, P. R., Kellar-Wood, H., Schapira, A. H. and Harding, A. E. (1994). "HLA class II genotypes in Leber's hereditary optic neuropathy." Journal of the Neurological Sciences 126(2):193-196.
Gowri, P., Sathish, P., Mahesh Kumar, S. and Sundaresan, P. (2022). "Mutation profile of neurodegenerative mitochondriopathy - LHON in Southern India." Gene 819:146202.
Grady, J. P., Pickett, S. J., Ng, Y. S., Alston, C. L., Blakely, E. L., Hardy, S. A., Feeney, C. L., Bright, A. A., Schaefer, A. M., Gorman, G. S., McNally, R. J., Taylor, R. W., Turnbull, D. M. and McFarland, R. (2018). "mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease." EMBO Molecular Medicine 10(6).
Graf, W. D., Marin-Garcia, J., Gao, H. G., Pizzo, S., Naviaux, R. K., Markusic, D., Barshop, B. A., Courchesne, E. and Haas, R. H. (2000). "Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation." Journal of Child Neurology 15(6):357-361.
Graf, W. D., Sumi, S. M., Copass, M. K., Ojemann, L. M., Longstreth, W. T., Jr., Shanske, S., Lombes, A. and DiMauro, S. (1993). "Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA." Annals of Neurology 33(6):640-645.
Grafakou, O., Hol, F. A., Otfried Schwab, K., Siers, M. H., ter Laak, H., Trijbels, F., Ensenauer, R., Boelen, C. and Smeitink, J. (2003). "Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene." Journal of Inherited Metabolic Disease 26(6):593-600.
Graff, C., Bui, T. H. and Larsson, N. G. (2002). "Mitochondrial diseases." Best Practice and Research in Clinical Obstetrics and Gynaecology 16(5):715-728.
Graff, C., Clayton, D. A. and Larsson, N. G. (1999). "Mitochondrial medicine--recent advances." Journal of Internal Medicine 246(1):11-23.
Graham, B. H., Waymire, K. G., Cottrell, B., Trounce, I. A., MacGregor, G. R. and Wallace, D. C. (1997). "A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/skeletal muscle isoform of the adenine nucleotide translocator." Nature Genetics 16(3):226-234.
Granatiero, V., Giorgio, V., Cali, T., Patron, M., Brini, M., Bernardi, P., Tiranti, V., Zeviani, M., Pallafacchina, G., De Stefani, D. and Rizzuto, R. (2016). "Reduced mitochondrial Ca(2+) transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenase." Cell Death and Differentiation 23(2):231-241.
Grandhi, S., Gould, L., Wang, J., Grandhi, A. and LaFramboise, T. (2019). "Mitochondrial genomics in the cancer cell line encyclopedia and a scoring method to effectively pair cell lines for cytoplasmic hybridization." Mitochondrion 46:256-261.
Grasbon-Frodl, E. M., Kosel, S., Sprinzl, M., von Eitzen, U., Mehraein, P. and Graeber, M. B. (1999). "Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease." Neurogenetics 2(2):121-127.
Grasso, M., Diegoli, M., Brega, A., Campana, C., Tavazzi, L. and Arbustini, E. (2001). "The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy." European Journal of Human Genetics 9(4):311-315.
Graven, L., Passarino, G., Semino, O., Boursot, P., Santachiara-Benerecetti, S., Langaney, A. and Excoffier, L. (1995). "Evolutionary correlation between control region sequence and restriction polymorphisms in the mitochondrial genome of a large Senegalese Mandenka sample." Molecular Biology and Evolution 12(2):334-345.
Gravina, L. P., Foncuberta, M. E., Estrada, R. C., Barreiro, C. and Chertkoff, L. (2007). "Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population. Impact on the newborn hearing screening." International Journal of Pediatric Otorhinolaryngology 71(4):639-643.
Gray, J. V. and Johnson, K. J. (1997). "Waiting for frataxin [news]." Nature Genetics 16(4):323-325.
Gray, M. R. (1992). "Detection of DNA sequence polymorphisms in human genomic DNA by using denaturing gradient gel blots." American Journal of Human Genetics 50(2):331-346.
Gray, M. W., Burger, G. and Lang, B. F. (1999). "Mitochondrial evolution." Science 283(5407):1476-1481.
Grazina, M., Silva, F., Januario, C., Oliveira, M., Cunha, L. and Oliveira, C. (2003). "Parkinson's disease and mitochondrial DNA NADH dehydrogenase subunit 1 nucleotides 3337-3340: study in a population from the central region of Portugal (Coimbra)." European Neurology 50(1):60-61.
Grazina, M., Silva, F., Santana, I., Santiago, B., Mendes, C., Simoes, M., Oliveira, M., Cunha, L. and Oliveira, C. (2004). "Frontotemporal dementia and mitochondrial DNA transitions." Neurobiology of Disease 15(2):306-311.
Greaves, L. C., Preston, S. L., Tadrous, P. J., Taylor, R. W., Barron, M. J., Oukrif, D., Leedham, S. J., Deheragoda, M., Sasieni, P., Novelli, M. R., Jankowski, J. A., Turnbull, D. M., Wright, N. A. and McDonald, S. A. (2006). "Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission". Proceedings of the National Academy of Sciences of the United States of America 103(3):714-719.
Greaves, L. C., Yu-Wai-Man, P., Blakely, E. L., Krishnan, K. J., Beadle, N. E., Kerin, J., Barron, M. J., Griffiths, P. G., Dickinson, A. J., Turnbull, D. M. and Taylor, R. W. (2010). "Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO". Investigative Ophthalmology and Visual Science 51(7):3340-3346.
Greber, B. J., Bieri, P., Leibundgut, M., Leitner, A., Aebersold, R., Boehringer, D. and Ban, N. (2015). "Ribosome. The complete structure of the 55S mammalian mitochondrial ribosome." Science 348(6232):303-308.
Greber, B. J., Boehringer, D., Leitner, A., Bieri, P., Voigts-Hoffmann, F., Erzberger, J. P., Leibundgut, M., Aebersold, R. and Ban, N. (2014). "Architecture of the large subunit of the mammalian mitochondrial ribosome." Nature 505(7484):515-519.
Green, D. R. (2000). "Apoptotic pathways: paper wraps stone blunts scissors." Cell 102(1):1-4.
Green, D. R. (2005). "Apoptotic pathways: ten minutes to dead." Cell 121(5):671-674.
Green, D. R. and Reed, J. C. (1998). "Mitochondria and apoptosis." Science 281(5381):1309-1312.
Green, D. R. and Reed, J. C. (1998). "Mitochondria and apoptosis." Science 281(5381):1309-1312.
Greenamyre, J. T., Garcia-Osuna, M. and Greene, J. G. (1994). "The endogenous cofactors, thioctic acid and dihydrolipoicacid, are neuroprotective against NMDA and malonic acid lesions of striatum." Neuroscience Letters 171(1-2):17-20.
Greenberg, B. D., Newbold, J. E. and Sugino, A. (1983). "Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA." Gene 21(1-2):33-49.
Greenberg, J. H., Turner, C. G., II and Zegura, S. L. (1986). "The settlement of the Americas: a comparison of the linguistic, dental, and genetic evidence." Current Anthropology 27:477-497.
Greene, J. G. and Greenamyre, J. T. (1996). "Bioenergetics and glutamate excitotoxicity." Progress in Neurobiology 48(6):613-634.
Gresham, D., Morar, B., Underhill, P. A., Passarino, G., Lin, A. A., Wise, C., Angelicheva, D., Calafell, F., Oefner, P. J., Shen, P., Tournev, I., de Pablo, R., Kucinskas, V., Perez-Lezaun, A., Marushiakova, E., Popov, V. and Kalaydjieva, L. (2001). "Origins and divergence of the Roma (gypsies)." American Journal of Human Genetics 69(6):1314-1331.
Griffiths, E. J. and Halestrap, A. P. (1993). "Protection by Cyclosporin A of ischemia/reperfusion-induced damage in isolated rat hearts." Journal of Molecular and Cellular Cardiology 25(12):1461-1469.
Grigorieff, N. (1998). "Three-dimensional structure of bovine NADH:ubiquinone oxidoreductase (complex I) at 22 A in ice." Journal of Molecular Biology 277(5):1033-1046.
Grist, S. A., Lu, X. J. and Morley, A. A. (2004). "Mitochondrial mutations in acute leukaemia." Leukemia 18(7):1313-1316.
Groop, L. C. (1997). "The molecular genetics of non-insulin-dependent diabetes mellitus [editorial]." Journal of Internal Medicine 241(2):95-101.
Gropman, A. and Chiaramello, A. (2019). "The importance of the nuclear background on the phenotypic signature caused by the MELAS m.1630 A>G variant." Molecular Genetics and Metabolism Reports 19:100462.
Gropman, A., Chen, T. J., Perng, C. L., Krasnewich, D., Chernoff, E., Tifft, C. and Wong, L. J. (2004). "Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation." American Journal of Medical Genetics 124A(4):377-382.
Gross, A., Jockel, J., Wei, M. C. and Korsmeyer, S. J. (1998). "Enforced dimerization of BAX results in its translocation, mitochondrial dysfunction and apoptosis." Embo Journal 17(14):3878-3885.
Gross, N. J., Getz, G. S. and Rabinowitz, M. (1969). "Apparent turnover of mitochondrial deoxyribonucleic acid and mitochondrial phospholipids in the tissues of the rat." Journal of Biological Chemistry 244(6):1552-1562.
Grossman, L. I. and Shoubridge, E. A. (1996). "Mitochondrial genetics and human disease." Bioessays 18(12):983-991.
Grosso, S., Carluccio, M. A., Cardaioli, E., Cerase, A., Malandrini, A., Romano, C., Federico, A. and Dotti, M. T. (2017). "Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum." Brain and Development 39(3):261-265. Comments: Finsterer & Zarrouk-Mahjoub 2017 [PMID 27914863] and [PMID 28522224].
Gu, J. Z., Lin, X. and Wells, D. E. (1996). "The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome." Genomics 35(1):6-10.
Gu, M., Cooper, J. M., Taanman, J. W. and Schapira, A. H. (1998). "Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease." Annals of Neurology 44(2):177-186.
Gu, M., Dong, X., Shi, L., Shi, L., Lin, K., Huang, X. and Chu, J. (2012). "Differences in mtDNA whole sequence between Tibetan and Han populations suggesting adaptive selection to high altitude". Gene 496(1):37-44.
Gu, M., Gash, M. T., Mann, V. M., Javoy-Agid, F., Cooper, J. M. and Schapira, A. H. (1996). "Mitochondrial defect in Huntington's disease caudate nucleus." Annals of Neurology 39(3):385-389.
Gu, P., Wang, G., Gao, X., Kang, D., Dai, P. and Huang, S. (2022). "Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation." BMC Medical Genomics 15(1):121.
Gu, X., Kang, X. and Liu, J. (2019). "Mutation signatures in germline mitochondrial genome provide insights into human mitochondrial evolution and disease." Human Genetics 138(6):613-624.
Guan, M. X. (2004). "Molecular pathogenetic mechanism of maternally inherited deafness." Annals of the New York Academy of Sciences 1011:259-271.
Guan, M. X. (2011). "Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity." Mitochondrion 11(2):237-245.
Guan, M. X., Enriquez, J. A., Fischel-Ghodsian, N., Puranam, R. S., Lin, C. P., Maw, M. A. and Attardi, G. (1998). "The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression." Molecular & Cellular Biology 18(10):5868-5879.
Guan, M. X., Fischel-Ghodsian, N. and Attardi, G. (1996). "Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation." Human Molecular Genetics 5(7):963-971.
Guan, M. X., Fischel-Ghodsian, N. and Attardi, G. (2000). "A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity." Human Molecular Genetics 9(12):1787-1793.
Guan, M. X., Fischel-Ghodsian, N. and Attardi, G. (2001). "Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation." Human Molecular Genetics 10(6):573-580.
Guan, M. X., Yan, Q., Li, X., Bykhovskaya, Y., Gallo-Teran, J., et al. (2006). "Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations." American Journal of Human Genetics 79(2):291-302.
Gucuyener, K., Seyrantepe, V., Topaloglu, H. and Ozguc (1998). "Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy." Journal of Inherited Metabolic Disease 21(2):173-174.
Guenebaut, V., Schlitt, A., Weiss, H., Leonard, K. and Friedrich, T. (1998). "Consistent structure between bacterial and mitochondrial NADH:ubiquinone oxidoreductase (complex I)." Journal of Molecular Biology 276(1):105-112.
Guerra, F., Girolimetti, G., Perrone, A. M., Procaccini, M., Kurelac, I., Ceccarelli, C., De Biase, D., Caprara, G., Zamagni, C., De Iaco, P., Santini, D. and Gasparre, G. (2014). "Mitochondrial DNA genotyping efficiently reveals clonality of synchronous endometrial and ovarian cancers." Modern Pathology 27(10):1412-1420.
Guerra, F., Kurelac, I., Cormio, A., Zuntini, R., Amato, L. B., Ceccarelli, C., Santini, D., Cormio, G., Fracasso, F., Selvaggi, L., Resta, L., Attimonelli, M., Gadaleta, M. N. and Gasparre, G. (2011). "Placing mitochondrial DNA mutations within the progression model of type I endometrial carcinoma". Human Molecular Genetics 20(12):2394-2405.
Guerrero, J. C., Pedro, H., Parisotto, S., Heller, D. and Baisre-de Leon, A. (2019). "A case of reversible infantile respiratory chain deficiency presenting with hypotonia, hyperammonemia, and failure to thrive." Pediatric and Developmental Pathology 22(6):590-593.
Guery, B., Choukroun, G., Noel, L. H., Clavel, P., Rotig, A., Lebon, S., Rustin, P., Bellane-Chantelot, C., Mougenot, B., Grunfeld, J. P. and Chauveau, D. (2003). "The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation." Journal of the American Society of Nephrology 14(8):2099-2108.
Guillausseau, P. J., Dubois-Laforgue, D., Massin, P., Laloi-Michelin, M., Bellanne-Chantelot, C., Gin, H., Bertin, E., Blickle, J. F., Bauduceau, B., Bouhanick, B., Cahen-Varsaux, J., Casanova, S., Charpentier, G., Chedin, P., Derrien, C., Grimaldi, A., Guerci, B., Kaloustian, E., Lorenzini, F., Murat, A., Olivier, F., Paques, M., Paquis-Flucklinger, V., Tielmans, A., Vincenot, M., Vialettes, B., Timsit, J. and Gediam Mitochondrial Diabetes French Study Group (2004). "Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD)." Diabetes and Metabolism 30(2):181-186.
Guitton, R., Dolle, C., Alves, G., Ole-Bjorn, T., Nido, G. S. and Tzoulis, C. (2022). "Ultra-deep whole genome bisulfite sequencing reveals a single methylation hotspot in human brain mitochondrial DNA." Epigenetics:1-16.
Gulcher, J., Helgason, A. and Stefansson, K. (2000). "Genetic homogeneity of Icelanders." Nature Genetics 26(4):395.
Guo, D. Y., Wang, X. W., Hong, N. and Gu, Y. S. (2016). "A meta-analysis of the association between different genotypes (G11778A, T14484C and G3460A) of Leber hereditary optic neuropathy and visual prognosis." International Journal of Ophthalmology 9(10):1493-1498.
Guo, H., Li, S., Dai, L., Huang, X., Yu, T., Yin, Z. and Bai, Y. (2019). "Genetic analysis in a cohort of patients with hereditary optic neuropathies in Southwest of China." Mitochondrion 46:327-333.
Guo, H., Zhuang, X. Y., Zhang, A. M., Zhang, W., Yuan, Y., Guo, L., Yu, D., Liu, J., Yang, D. K. and Yao, Y. G. (2012). "Presence of mutation m.14484T>C in a Chinese family with maternally inherited essential hypertension but no expression of LHON." Biochimica et Biophysica Acta 1822(10):1535-1543.
Guo, L. J., Oshida, Y., Fuku, N., Takeyasu, T., Fujita, Y., Kurata, M., Sato, Y., Ito, M. and Tanaka, M. (2005). "Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity." Mitochondrion 5(1):15-33.
Guo, L., Yuan, Y. and Bi, R. (2016). "Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNA(Trp) causing maternally inherited essential hypertension." Biochemical and Biophysical Research Communications 479(4):800-807.
Guo, Y., Guo, Z., Chen, L., Zhang, J., Wang, W., Liu, X., Ren, H. and Gao, S. (1997). "Clinical, pathologic and genetic studies on mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes." Chinese Medical Journal 110(11):851-855.
Gurgey, A., Rotig, A., Gumruk, F., Cemeroglu, P., Sarialioglu, F. and Altay, C. (1992). "Pearson's marrow-pancreas syndrome in 2 Turkish children." Acta Haematologica 87(4):206-209.
Gurven, M. (2000). "How can we distinguish between mutational "hot spots" and "old sites" in human mtDNA samples?" Human Biology 72(3):455-471.
Gusdon, A. M., Hui, Y., Chen, J., Mathews, C. E. and Qu, S. (2021). "Mitochondrial haplogroup G is associated with nonalcoholic fatty liver disease, while haplogroup A mitigates the effects of PNPLA3." Endocrinology, Diabetes and Metabolism 4(1):e00187.
Gustafson, A. W. (2002). "Paternal inheritance of mitochondrial DNA." New England Journal of Medicine 347(25):2081-2082; author reply 2081-2082.
Gutierrez Cortes, N., Pertuiset, C., Dumon, E., Borlin, M., Hebert-Chatelain, E., Pierron, D., Feldmann, D., Jonard, L., Marlin, S., Letellier, T. and Rocher, C. (2012). "Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss." Human Mutation 33(4):681-689.
Gutierrez, A., Saldana-Martinez, A., Garcia-Ramirez, R., Rayo-Mares, D., Carreras, M., Lopez-Perez, M. J., Ruiz-Pesini, E., Montoya, J. and Montiel-Sosa, J. F. (2009). "[Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family]." Revue Neurologique (Paris) 49(5):248-250.
Guy, J., Feuer, W. J., Davis, J. L., Porciatti, V., Gonzalez, P. J., Koilkonda, R. D., Yuan, H., Hauswirth, W. W. and Lam, B. L. (2017). "Gene therapy for Leber hereditary optic neuropathy: low- and medium-dose visual results." Ophthalmology 124(11):1621-1634.
Guy, J., Qi, X., Koilkonda, R. D., Arguello, T., Chou, T. H., Ruggeri, M., Porciatti, V., Lewin, A. S. and Hauswirth, W. W. (2009). "Efficiency and safety of AAV-mediated gene delivery of the human ND4 complex I subunit in the mouse visual system." Investigative Ophthalmology and Visual Science 50(9):4205-4214.
Guy, J., Qi, X., Muzyczka, N. and Hauswirth, W. W. (1999). "Reporter expression persists 1 year after adeno-associated virus-mediated gene transfer to the optic nerve." Archives of Ophthalmology 117(7):929-937.
Guy, J., Qi, X., Pallotti, F., Schon, E.A., Manfredi, G., Carelli, V., Martinuzzi, A., Hauswirth, W.W. and Lewin, A.S. (2002). "Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy." Annals of Neurology 52(5):534-542.
Gvozdjakova, A., Kuznetsov, A. V., Kucharska, J., Miklovicova, E. and Gvozdjak, J. (1991). "The functional state of the creatine kinase system of myocardial mitochondria in alcoholic cardiomyopathy." Cor et Vasa 33(4):343-349.
Gyllensten, U., Wharton, D., Josefsson, A. and Wilson, A. C. (1991). "Paternal inheritance of mitochondrial DNA in mice." Nature 352(6332):255-257.
Ha, H., Hajek, P., Bedwell, D. M. and Burrows, P. D. (1993). "A mitochondrial porin cDNA predicts the existence of multiple human porins." Journal of Biological Chemistry 268(16):12143-12149.
Ha, P. K., Tong, B. C., Westra, W. H., Sanchez-Cespedes, M., Parrella, P., Zahurak, M., Sidransky, D. and Califano, J. A. (2002). "Mitochondrial C-tract alteration in premalignant lesions of the head and neck: a marker for progression and clonal proliferation." Clinical Cancer Research 8(7):2260-2265.
Haag, S., Sloan, K. E., Ranjan, N., Warda, A. S., Kretschmer, J., Blessing, C., Hubner, B., Seikowski, J., Dennerlein, S., Rehling, P., Rodnina, M. V., Hobartner, C. and Bohnsack, M. T. (2016). "NSUN3 and ABH1 modify the wobble position of mt-tRNAMet to expand codon recognition in mitochondrial translation." EMBO Journal 35(19):2104-2119.
Haak, W., Balanovsky, O., Sanchez, J. J., Koshel, S., Zaporozhchenko, V., Adler, C. J., Der Sarkissian, C. S., Brandt, G., Schwarz, C., Nicklisch, N., Dresely, V., Fritsch, B., Balanovska, E., Villems, R., Meller, H., Alt, K. W. and Cooper, A. (2010). "Ancient DNA from European early neolithic farmers reveals their near eastern affinities." PLoS Biology 8(11):e1000536.
Haas, R. C. and Strauss, A. W. (1990). "Separate nuclear genes encode sarcomere-specific and ubiquitous human mitochondrial creatine kinase isoenzymes." Journal of Biological Chemistry 265(12):6921-6927.
Haas, R. H. and Zolkipli, Z. (2014). "Mitochondrial disorders affecting the nervous system." Seminars in Neurology 32(3):321-340.
Haas, R. H., Parikh, S., Falk, M. J., Saneto, R. P., Wolf, N. I., Darin, N. and Cohen, B. H. (2007). "Mitochondrial disease: a practical approach for primary care physicians". Pediatrics 120(6):1326-1333.
Haas, R. H., Parikh, S., Falk, M. J., Saneto, R. P., Wolf, N. I., Darin, N., Wong, L.-J., Cohen, B. H. and Naviaux, R. K. (2008). "The in-depth evaluation of suspected mitochondrial disease". Molecular Genetics and Metabolism 94(1):16-37.
Habano, W., Nakamura, S. and Sugai, T. (1998). "Microsatellite instability in the mitochondrial DNA of colorectal carcinomas: evidence for mismatch repair systems in mitochondrial genome." Oncogene 17(15):1931-1937.
Habano, W., Sugai, T., Nakamura, S. I., Uesugi, N., Yoshida, T. and Sasou, S. (2000). "Microsatellite instability and mutation of mitochondrial and nuclear DNA in gastric carcinoma." Gastroenterology 118(5):835-841.
Habano, W., Sugai, T., Nakamura, S., Uesugi, N., Higuchi, T., Terashima, M. and Horiuchi, S. (2003). "Reduced expression and loss of heterozygosity of the SDHD gene in colorectal and gastric cancer." Oncology Reports 10(5):1375-1380.
Habano, W., Sugai, T., Yoshida, T. and Nakamura, S. (1999). "Mitochondrial gene mutation, but not large-scale deletion, is a feature of colorectal carcinomas with mitochondrial microsatellite instability." International Journal of Cancer 83(5):625-629.
Hadavi, S., Markowitz, S. N. and Reyes, S. V. (2013). "Leber's neuropathy and preferred retinal loci." Canadian Journal of Ophthalmology 48(1):e8-9.
Hadjigeorgiou, G. M., Kim, S. H., Fischbeck, K. H., Andreu, A. L., Berry, G. T., Bingham, P., Shanske, S., Bonilla, E. and DiMauro, S. (1999). "A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy." Journal of the Neurological Sciences 164(2):153-157.
Hadzsiev, K., Maasz, A., Kisfali, P., Kalman, E., Gomori, E., Pal, E., Berenyi, E., Komlosi, K. and Melegh, B. (2010). "Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees." Neuromolecular Medicine 12(3):277-284.
Haferkamp, O., Rosenau, W., Scheuerle, A., Pietrczyk, C., Skowronek, P. and Rodel, G. (1998). "Disseminated neocortical and subcortical encephalopathy (DNSE) with widespread activation of brain macrophages: a new dementia disorder? Autopsy reports of two postmenopausal women from families with mitochondrial DNA mutations." Clinical Neuropathology 17(2):85-94.
Haferkamp, O., Scheuerle, A., Schlenk, R., Melzner, I., Pavenstadt-Grupp, I. and Rodel, G. (1994). "Mitochondrial complex I and III mutations and neutral-lipid storage in activated mononuclear macrophages and neutrophils: a case presenting with necrotizing myopathy, poikiloderma atrophicans vasculare, and xanthogranulomatous bursitis." Human Pathology 25(4):419-423.
Hage, R. and Vignal-Clermont, C. (2021). "Leber hereditary optic neuropathy: review of treatment and management." Frontiers in Neurology 12:651639.
Hagen, C. M., Aidt, F. H., Havndrup, O., Hedley, P. L., Jensen, M. K., Kanters, J. K., Pham, T. T., Bundgaard, H. and Christiansen, M. (2015). "Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy." PLoS ONE 10(4):e0124540.
Hagelberg, E. (2003). "Recombination or mutation rate heterogeneity? Implications for Mitochondrial Eve." Trends in Genetics 19(2):84-90.
Hagelberg, E. and Clegg, J. B. (1993). "Genetic polymorphisms in prehistoric Pacific islanders determined by analysis of ancient bone DNA." Proceedings of the Royal Society of London. Series B: Biological Sciences 252(1334):163-170.
Hagelberg, E., B., S. and R., H. (1989). "Ancient bone DNA amplified [letter]." Nature 342(6249):485.
Hagelberg, E., Bell, L. S., Allen, T., Boyde, A., Jones, S. J. and Clegg, J. B. (1991). "Analysis of ancient bone DNA: techniques and applications." Philosophical Transactions of the Royal Society of London - Series B: Biological Sciences 333(1268):399-407.
Hagelberg, E., Goldman, N., Lio, P., Whelan, S., Schiefenhovel, W., Clegg, J. B. and Bowden, D. K. (1999). "Evidence for mitochondrial DNA recombination in a human population of island Melanesia." Proceedings of the Royal Society of London. Series B: Biological Sciences 266(1418):485-492.
Hagemann, R. (2010). "The foundation of extranuclear inheritance: plastid and mitochondrial genetics." Molecular Genetics and Genomics 283(3):199-209.
Hakem, R., Hakem, A., Duncan, G. S., Henderson, J. T., Woo, M., Soengas, M. S., Elia, A., de la Pompa, J. L., Kagi, D., Khoo, W., Potter, J., Yoshida, R., Kaufman, S. A., Lowe, S. W., Penninger, J. M. and Mak, T. W. (1998). "Differential requirement for caspase 9 in apoptotic pathways in vivo." Cell 94(3):339-352.
Hakkaart, G. A., Dassa, E. P., Jacobs, H. T. and Rustin, P. (2006). "Allotopic expression of a mitochondrial alternative oxidase confers cyanide resistance to human cell respiration." EMBO Reports 7(3):341-345.
Hakonen, A. H., Goffart, S., Marjavaara, S., Paetau, A., Cooper, H., Mattila, K., Lampinen, M., Sajantila, A., Lonnqvist, T., Spelbrink, J. N. and Suomalainen, A. (2008). "Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion." Human Molecular Genetics 17(23):3822-3835.
Hales, K. G. and Fuller, M. T. (1997). "Developmentally regulated mitochondrial fusion mediated by a conserved, novel, predicted GTPase." Cell 90(1):121-129.
Hall, E. D. (1993). "Cerebral ischaemia, free radicals and antioxidant protection." Biochemical Society Transactions 21(2):334-339.
Hall, L., Williams, K., Perry, A. C. F., Frayne, J. and Jury, J. A. (1998). "The majority of human glutathione peroxidase type 5 (GPX5) transcripts are incorrectly spliced: implications for the role of GPX5 in the male reproductive tract." Biochemical Journal 333(Pt 1):5-9.
Haller, R. G., Lewis, S. F., Estabrook, R. W., DiMauro, S., Servidei, S. and Foster, D. W. (1989). "Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency." Journal of Clinical Investigation 84(1):155-161.
Halliwell, B. and Cross, C. E. (1991). "Reactive oxygen species, antioxidants, and acquired immunodeficiency syndrome. Sense or speculation?" Archives of Internal Medicine 151(1):29-31.
Hamalainen, R. H., Manninen, T., Koivumaki, H., Kislin, M., Otonkoski, T. and Suomalainen, A. (2013). "Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model". Proceedings of the National Academy of Sciences of the United States of America 110(38):E3622-E3630
Hamasaki, K. and Rando, R. R. (1997). "Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness." Biochemistry 36(40):12323-12328.
Hamazaki, S., Koshiba, M. and Sugiyama, T. (1993). "Organ distribution of mutant mitochondrial tRNALeu(UUR) gene in a MELAS patient." Acta Pathologica Japonica 43:187-191.
Hamblet, N. S. and Castora, F. J. (1995). "Mitochondrial DNA deletion analysis: a comparison of PCR quantitative methods." Biochemical and Biophysical Research Communications 207(2):839-847.
Hamblet, N. S. and Castora, F. J. (1997). "Elevated levels of the Kearns-Sayre syndrome mitochondrial DNA deletion in temporal cortex of Alzheimer's patients." Mutation Research 379(2):253-262.
Hamblet, N. S., Ragland, B., Ali, M., Conyers, B. and Castora, F. J. (2006). "Mutations in mitochondrial-encoded cytochrome c oxidase subunits I, II, and III genes detected in Alzheimer's disease using single-strand conformation polymorphism." Electrophoresis 27(2):398-408.
Hamilton, M. G. and O'Brien, T. W. (1974). "Ultracentrifugal characterization of the mitochondrial ribosome and subribosomal particles of bovine liver: molecular size and composition." Biochemistry 13(26):5400-5403.
Hammans, S. R., Sweeney, M. G., Brockington, M., Lennox, G. G., Lawton, N. F., Kennedy, C. R., Morgan-Hughes, J. A. and Harding, A. E. (1993). "The mitochondrial DNA transfer RNALys A-G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA." Brain 116(Pt 3):617-632.
Hammans, S. R., Sweeney, M. G., Brockington, M., Morgan-Hughes, J. A. and Harding, A. E. (1991). "Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples [see comments]." Lancet 337(8753):1311-1313.
Hammans, S. R., Sweeney, M. G., Hanna, M. G., Brockington, M., Morgan-Hughes, J. A. and Harding, A. E. (1995). "The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study." Brain 118(Pt 3):721-734.
Hammans, S. R., Sweeney, M. G., Holt, I. J., Cooper, J. M., Toscano, A., Clark, J. B., Morgan-Hughes, J. A. and Harding, A. E. (1992). "Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy." Journal of the Neurological Sciences 107(1):87-92.
Hammans, S. R., Sweeney, M. G., Wicks, D. A., Morgan-Hughes, J. A. and Harding, A. E. (1992). "A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies [published erratum appears in Brain 1993 Feb;116(Pt 1):following 306]." Brain 115(Pt 2):343-365.
Hammond, E. L., Sayer, D., Nolan, D., Walker, U. A., Ronde, A., Montaner, J. S., Cote, H. C., Gahan, M. E., Cherry, C. L., Wesselingh, S. L., Reiss, P. and Mallal, S. (2003). "Assessment of precision and concordance of quantitative mitochondrial DNA assays: a collaborative international quality assurance study." Journal of Clinical Virology 27(1):97-110.
Han, B., Zhou, T., Tu, Y., Wang, T., He, Z., Li, Y., Yuan, J., Yang, X. and Sun, H. (2019). "Correlation between mitochondrial DNA 4977 bp deletion and presbycusis: A system review and meta-analysis." Medicine (Baltimore) 98(27):e16302.
Han, D., Dai, P., Zhu, Q., Liu, X., Huang, D., Yuan, Y., Yuan, H., Wang, X., Qian, Y., Young, W. Y. and Guan, M. X. (2007). "The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss." Biochemical & Biophysical Research Communications 357(2):554-560.
Han, J. Y., Sung, J. J., Park, H. K., Yoon, B. N. and Lee, K. W. (2014). "Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation." Journal of Clinical Neuroscience 21(11):2009-2011.
Hance, N., Ekstrand, M. I. and Trifunovic, A. (2005). "Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis." Human Molecular Genetics 14(13):1775-1783.
Hancock, C. R., Han, D. H., Chen, M., Terada, S., Yasuda, T., Wright, D. C. and Holloszy, J. O. (2008). "High-fat diets cause insulin resistance despite an increase in muscle mitochondria." Proceedings of the National Academy of Sciences of the United States of America 105(22):7815-7820.
Hancock, D. K., Schwarz, F. P., Song, F., Wong, L. J. and Levin, B. C. (2002). "Design and use of a peptide nucleic acid for detection of the heteroplasmic low-frequency mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) mutation in human mitochondrial DNA." Clinical Chemistry 48(12):2155-2163.
Hancock, M. R. (2002). "Mitochondrial dysfunction and the role of the non-specialist laboratory." Annals of Clinical Biochemistry 39(Pt 5):456-463.
Handt, O., Krings, M., Ward, R. H. and Paabo, S. (1996). "The retrieval of ancient human DNA sequences." American Journal of Human Genetics 59(2):368-376.
Handt, O., Richards, M., Trommsdorff, M., Kilger, C., Simanainen, J., Georgiev, O., Bauer, K., Stone, A., Hedges, R., Schaffner, W., Utermann, G., Sykes, B. and Paabo, S. (1994). "Molecular genetic analyses of the Tyrolean Ice Man." Science 264(5166):1775-1778.
Handzic, A. and Pless, M. L. (2020). "The slowly progressive, bilaterally simultaneous variety of Leber hereditary optic neuropathy." Klinische Monatsblätter für Augenheilkunde 237(4):519-520.
Hanefeld, F. A., Ernst, B. P., Wilichowski, E. and Christen, H. J. (1994). "Leber's hereditary optic neuropathy mitochondrial DNA mutations in childhood multiple sclerosis." Neuropediatrics 25(6):331.
Hanna, M. G., Nelson, I. P., Morgan-Hughes, J. A. and Wood, N. W. (1998). "MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity." Journal of Neurology, Neurosurgery & Psychiatry 65(4):512-517.
Hanna, M. G., Nelson, I. P., Rahman, S., Lane, R. J., Land, J., Heales, S., Cooper, M. J., Schapira, A. H., Morgan-Hughes, J. A. and Wood, N. W. (1998). "Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA." American Journal of Human Genetics 63(1):29-36.
Hanna, M. G., Nelson, I., Sweeney, M. G., Cooper, J. M., Watkins, P. J., Morgan-Hughes, J. A. and Harding, A. E. (1995). "Congenital encephalomyopathy and adult-onset myopathey and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation." American Journal of Human Genetics 56(5):1026-1033.
Hanna, M. G., Vaughan, J. R., Silburn, P. A., Davis, P. T., Greenhall, R. C., Squier, M. V., Mills, K. R., Renowden, S. and Sellar, A. (1997). "Two unusual clinical presentations of the mitochondrial DNA A3243G point mutation in adult neurological practice [letter]." Journal of Neurology, Neurosurgery & Psychiatry 62(5):544-546.
Hanni, C., Laudet, V., Coll, J. and Stehelin, D. (1994). "An unusual mitochondrial DNA sequence variant from an Egyptian mummy." Genomics 22(2):487-489.
Hansen, J. J., Bross, P., Westergaard, M., Nielsen, M. N., Eiberg, H., Borglum, A. D., Mogensen, J., Kristiansen, K., Bolund, L. and Gregersen, N. (2003). "Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter." Human Genetics 112(1):71-77.
Hanson, B., Nuttal, S. and Hoogenraad, N. (1996). "A receptor for the import of proteins into human mitochondria." European Journal of Biochemistry 235(3):750-753.
Hao, H. and Moraes, C. T. (1997). "A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn)." Molecular and Cellular Biology 17(12):6831-6837.
Hao, H., Bonilla, E., Manfredi, G., DiMauro, S. and Moraes, C. T. (1995). "Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus." American Journal of Human Genetics 56(5):1017-1025.
Hao, H., Manfredi, G. and Moraes, C. T. (1997). "Functional and structural features of a tandem duplication of the human mtDNA promoter region." American Journal of Human Genetics 60(6):1363-1372.
Hao, H., Morrison, L. E. and Moraes, C. T. (1999). "Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background." Human Molecular Genetics 8(6):1117-1124.
Hao, X. D., Yang, Y. L., Tang, N. L., Kong, Q. P., Wu, S. F. and Zhang, Y. P. (2013). "Mitochondrial DNA haplogroup Y is associated to Leigh syndrome in Chinese population." Gene 512(2):460-463.
Hara, H., Wakayama, Y., Kouno, Y., Yamada, H., Tanaka, M. and Ozawa, T. (1994). "Acute peripheral neuropathy, rhabdomyolysis, and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation." Journal of Neurology, Neurosurgery and Psychiatry 57(12):1545-1546.
Harada, S., Okubo, T., Tsutsumi, M., Takase, S. and Muramatsu, T. (1996). "Investigation of genetic risk factors associated with alcoholism." Alcoholism: Clinical and Experimental Research 20(9 Suppl):293A-296A.
Haraguchi, Y., Chung, A. B., Neill, S. and Wallace, D. C. (1994). "OXBOX and REBOX, overlapping promoter elements of the mitochondrial F0F1-ATP synthase beta subunit gene. OXBOX/REBOX in the ATPsyn beta promoter." Journal of Biological Chemistry 269(12):9330-9334.
Haraguchi, Y., Chung, A. B., Torroni, A., Stepien, G., Shoffner, J. M., Wasmuth, J. J., Costigan, D. A., Polak, M., Altherr, M. R., Winokur, S. T. and Wallace, D. C. (1993). "Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus." Genomics 16(2):479-485.
Harbottle, A., Maki, J., Reguly, B., Wittock, R., Robinson, K., Parr, R. and Birch-Machin, M. A. (2010). "Real-time polymerase chain reaction analysis of a 3895-bp mitochondrial DNA deletion in epithelial swabs and its use as a quantitative marker for sunlight exposure in human skin." British Journal of Dermatology 163(6):1291-1295.
Harding, A. E. (1992). "Spontaneous errors of mitochondrial DNA in human disease." In Mitochondrial DNA in Human Pathology: 53-62; N.Y., Raven Press. DiMauro, S. and Wallace, D. C., Eds.
Harding, A. E., Holt, I. J., Sweeney, M. G., Brockington, M. and Davis, M. B. (1992). "Prenatal diagnosis of mitochondrial DNA8993 T-G disease." American Journal of Human Genetics 50(3):629-633.
Harding, A. E., Riordan-Eva, P. and Govan, G. G. (1995). "Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy." Muscle and Nerve 3(4):S82-84.
Harding, A. E., Sweeney, M. G., Govan, G. G. and Riordan-Eva, P. (1995). "Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation." American Journal of Human Genetics 57(1):77-86.
Harding, A. E., Sweeney, M. G., Miller, D. H., Mumford, C. J., Kellar-Wood, H., Menard, D., McDonald, W. I. and Compston, D. A. S. (1992). "Occurrence of a multiple sclerosis-like illness in women who have a Leber's heditary optic neuropathy mitochondrial DNA mutation." Brain 115:979-989.
Hardy, J. A. and Higgins, G. A. (1992). "Alzheimer's disease: the amyloid cascade hypothesis." Science 256(5054):184-185.
Hardy, S. A., Blakely, E. L., Purvis, A. I., Rocha, M. C., Ahmed, S., Falkous, G., Poulton, J., Rose, M. R., O'Mahony, O., Bermingham, N., Dougan, C. F., Ng, Y. S., Horvath, R., Turnbull, D. M., Gorman, G. S. and Taylor, R. W. (2016). "Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy." Neurology. Genetics 2(4):e82.
Hare, J. F., Ching, E. and Attardi, G. (1980). "Isolation, subunit composition and site of synthesis of human cytochrome c oxidase." Biochemistry 19(10):2023-2030.
Harihara, S., Hirai, M. and Omoto, K. (1986). "Mitochondrial DNA polymorphism in Japanese living in Hokkaido." Japanese Journal of Human Genetics [Jinrui Idengaku Zasshi] 31(2):73-83.
Harihara, S., Hirai, M., Suutou, Y., Shimizu, K. and Omoto, K. (1992). "Frequency of a 9-bp deletion in the mitochondrial DNA among Asian populations." Human Biology 64(2):161-166.
Harihara, S., Saitou, N., Hirai, M., Gojobori, T., Park, K. S., Misawa, S., Ellepola, S. B., Ishida, T. and Omoto, K. (1988). "Mitochondrial DNA polymorphism among five Asian populations." American Journal of Human Genetics 43(2):134-143.
Harman, D. (1972). "The biologic clock: the mitochondria?" Journal of the American Geriatrics Society 20(4):145-147.
Harrison, D. E. and Archer, J. R. (1983). "Physiological assays for biological age in mice: relationship of collagen, renal function, and longevity." Experimental Aging Research 9(4):245-251.
Harrison, D. E. and Archer, J. R. (1987). "Genetic differences in effects of food restriction on aging in mice." Journal of Nutrition 117(2):376-382.
Harrison, S. M., Jarvie, P. E. and Dunkley, P. R. (1988). "A rapid Percoll gradient procedure for isolation of synaptosomes directly from an S1 fraction: viability of subcellular fractions." Brain Research 441(1-2):72-80.
Harrison, T. J., Boles, R. G., Johnson, D. R., LeBlond, C. and Wong, L. J. (1997). "Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy." American Journal of Ophthalmology 124(2):217-221.
Harrower, T., Stewart, J. D., Hudson, G., Houlden, H., Warner, G., O'Donovan, D. G., Findlay, L. J., Taylor, R. W., De Silva, R. and Chinnery, P. F. (2008). "POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease." Archives of Neurology 65(1):133-136.
Hartley, J. W., Fredrickson, T. N., Yetter, R. A., Makino, M. and Morse, H. C. d. (1989). "Retrovirus-induced murine acquired immunodeficiency syndrome: natural history of infection and differing susceptibility of inbred mouse strains." Journal of Virology 63(3):1223-1231.
Hartmann, H., Eckert, A. and Muller, W. E. (1994). "Apolipoprotein E and cholesterol affect neuronal calcium signalling: the possible relationship to beta-amyloid neurotoxicity." Biochemical and Biophysical Research Communications 200(3):1185-1192.
Hartzog, P. E. and Cain, B. D. (1994). "Second-site suppressor mutations at glycine 218 and histidine 245 in the alpha subunit of F1F0 ATP synthase in Escherichia coli." Journal of Biological Chemistry 269(51):32313-32317.
Hartzog, P. E., Gardner, J. L. and Cain, B. D. (1999). "Modeling the Leigh syndrome nt8993 T-->C mutation in Escherichia coli F1F0 ATP synthase." International Journal of Biochemistry and Cell Biology 31(7):769-776.
Hasegawa, H., Matsuoka, T., Goto, Y. and Nonaka, I. (1993). "Cytochrome c oxidase activity is deficient in blood vessels of patients with myoclonus epilepsy with ragged-red fibers." Acta Neuropathol (Berl) 85(3):280-284.
Hasegawa, M., Di Rienzo, A., Kocher, T. D. and Wilson, A. C. (1993). "Toward a more accurate time scale for the human mitochondrial DNA tree." Journal of Molecular Evolution 37(4):347-354.
Hashiguchi, K. and Zhang-Akiyama, Q. M. (2009). "Establishment of human cell lines lacking mitochondrial DNA." Methods in Molecular Biology 554:383-391.
Hashizume, O., Shimizu, A., Yokota, M., Sugiyama, A., Nakada, K., Miyoshi, H., Itami, M., Ohira, M., Nagase, H., Takenaga, K. and Hayashi, J. I. (2012). "Specific mitochondrial DNA mutation in mice regulates diabetes and lymphoma development". Proceedings of the National Academy of Sciences of the United States of America 109(26 ):10528-10533.
Hasnain, S. E. (2011). "A link between mitochondrial DNA haplogroup and ischemia". Medical Principles and Practice 20(3):201-202.
Hassani-Kumleh, H., Houshmand, M., Panahi, M. S., Riazi, G. H., Sanati, M. H., Gharagozli, K. and Ghabaee, M. (2006). "Mitochondrial D-loop variation in Persian multiple sclerosis patients: K and A haplogroups as a risk factor!!" Cellular and Molecular Neurobiology 26(2):119-125.
Hatakeyama, H., Katayama, A., Komaki, H., Nishino, I. and Goto, Y. (2015). "Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp)." Acta Neuropathologica Communications 3:52.
Hatefi, Y. (1985). "The mitochondrial electron transport and oxidative phosphorylation system." Annual Review of Biochemistry 54:1015-1069.
Hatefi, Y. (1993). "ATP synthesis in mitochondria." European Journal of Biochemistry 218(3):759-767.
Hatefi, Y. and Galante, Y. M. (1980). "Isolation of cytochrome b560 from complex II (succinateubiquinone oxidoreductase) and its reconstitution with succinate dehydrogenase." Journal of Biological Chemistry 255(12):5530-5537.
Hathazi, D., Griffin, H., Jennings, M. J., Giunta, M., Powell, C., et al. (2020). "Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency." The EMBO Journal 39(23):e105364.
Hattori, K., Ogawa, T., Kondo, T., Mochizuki, M., Tanaka, M., Sugiyama, S., Ito, T., Satake, T. and Ozawa, T. (1991). "Cardiomyopathy with mitochondrial DNA mutations." American Heart Journal 122(3 Pt 1):866-869.
Hattori, K., Tanaka, M., Sugiyama, S., Obayashi, T., Ito, T., Satake, T., Hanaki, Y., Asai, J., Nagano, M. and Ozawa, T. (1991). "Age-dependent increase in deleted mitochondrial DNA in the human heart: possible contributory factor to presbycardia." American Heart Journal 121(6 Pt 1):1735-1742.
Hattori, N., Suzuki, H., Wang, Y., Minoshima, S., Shimizu, N., Yoshino, H., Kurashima, R., Tanaka, M., Ozawa, T. and Mizuno, Y. (1995). "Structural organization and chromosomal localization of the human nuclear gene (NDUFV2) for the 24-kDa iron-sulfur subunit of complex I in mitochondrial respiratory chain." Biochemical and Biophysical Research Communications 216(3):771-777.
Hattori, N., Tanaka, M., Ozawa, T. and Mizuno, Y. (1991). "Immunohistochemical studies on complexes I, II, III, and IV of mitochondria in Parkinson's disease." Annals of Neurology 30(4):563-571.
Hattori, N., Yoshino, H., Tanaka, M., Suzuki, H. and Mizuno, Y. (1998). "Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease." Genomics 49(1):52-58.
Hattori, Y., Goto, Y., Sakuta, R., Nonaka, I., Mizuna, Y. and Horai, S. (1994). "Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO) [see comments]." Journal of the Neurological Sciences 125(1):50-55.
Hattori, Y., Nakajima, K., Eizawa, T., Ehara, T., Koyama, M., Hirai, T., Fukuda, Y. and Kinoshita, M. (2003). "Heteroplasmic mitochondrial DNA 3310 mutation in NADH dehydrogenase subunit 1 associated with type 2 diabetes, hypertrophic cardiomyopathy, and mental retardation in a single patient." Diabetes Care 26(3):952-953.
Hattori, Y., Takeoka, M., Nakajima, K., Ehara, T. and Koyama, M. (2005). "A heteroplasmic mitochondrial DNA 3310 mutation in the ND1 gene in a patient with type 2 diabetes, hypertrophic cardiomyopathy, and mental retardation." Experimental and Clinical Endocrinology and Diabetes 113(6):318-323.
Hauswirth, W. W. and Clayton, D. A. (1985). "Length heterogeneity of a conserved displacement-loop sequence in human mitochondrial DNA." Nucleic Acids Research 13(22):8093-8104.
Hauswirth, W. W., Dickel, C. D., Rowold, D. J. and Hauswirth, M. A. (1994). "Inter- and intrapopulation studies of ancient humans." Experientia 50(6):585-591.
Hayakawa, M., Hattori, H., Sugiyama, S. and Ozawa, T. (1992). "Age-associated oxygen damage and mutations in mitochondrial DNA in human hearts." Biochemical and Biophysical Research Communications 189(2):979-985.
Hayakawa, M., Sugiyama, S., Hattori, K., Takasawa, M. and Ozawa, T. (1993). "Age-associated damage in mitochondrial DNA in human hearts." Molecular and Cellular Biochemistry 119(1-2):95-103.
Hayashi, J. I., Hashizume, O., Ishikawa, K. and Shimizu, A. (2016). "Mutations in mitochondrial DNA regulate mitochondrial diseases and metastasis but do not regulate aging." Current Opinion in Genetics and Development 38:63-67.
Hayashi, J., Ohta, S., Kagawa, Y., Takai, D., Miyabayashi, S., Tada, K., Fukushima, H., Inui, K., Okada, S., Goto, Y. and Nonaka, I. (1994). "Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes." Journal of Biological Chemistry 269(29):19060-19066.
Hayashi, J., Ohta, S., Kikuchi, A., Takemitsu, M., Goto, Y. and Nonaka, I. (1991). "Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction." Proceedings of the National Academy of Sciences of the United States of America 88(23):10614-10618.
Hayashi, J., Ohta, S., Takai, D., Miyabayashi, S., Sakuta, R., Goto, Y. and Nonaka, I. (1993). "Accumulation of mtDNA with a mutation at position 3271 in tRNALeu(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function." Biochemical and Biophysical Research Communications 197(3):1049-1055.
Hayashi, J., Tagashira, Y. and Yoshida, M. C. (1985). "Absence of extensive recombination between inter- and intraspecies mitochondrial DNA in mammalian cells." Experimental Cell Research 160(2):387-395.
Hayashi, J., Takemitsu, M., Goto, Y. and Nonaka, I. (1994). "Human mitochondria and mitochondrial genome function as a single dynamic cellular unit." Journal of Cell Biology 125(1):43-50.
Hayashi, J., Werbin, H. and Shay, J. W. (1986). "Effects of normal human fibroblast mitochondrial DNA on segregation of HeLaTG Mitochondrial DNA and on tumorigenicity of HeLaTG cells." Cancer Research 46(8):4001-4006.
Hayashi, N., Geraghty, M. T. and Green, W. R. (2000). "Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome." Ophthalmology 107(7):1397-1402.
Hazkani-Covo, E. and Covo, S. (2008). "Numt-mediated double-strand break repair mitigates deletions during primate genome evolution." PLoS Genetics 4(10):e1000237.
Hazkani-Covo, E., Zeller, R. M. and Martin, W. (2010). "Molecular poltergeists: mitochondrial DNA copies (numts) in sequenced nuclear genomes." PLoS Genetics 6(2):e1000834.
He, L., Chinnery, P. F., Durham, S. E., Blakely, E. L., Wardell, T. M., Borthwick, G. M., Taylor, R. W. and Turnbull, D. M. (2002). "Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR." Nucleic Acids Research 30(14):e68.
He, L., Luo, L., Proctor, S. J., Middleton, P. G., Blakely, E. L., Taylor, R. W. and Turnbull, D. M. (2003). "Somatic mitochondrial DNA mutations in adult-onset leukaemia." Leukemia 17(12):2487-2491.
Heath, K. V., Montaner, J. S., Bondy, G., Singer, J., O'Shaughnessy, M. V. and Hogg, R. S. (2003). "Emerging drug toxicities of highly active antiretroviral therapy for human immunodeficiency virus (HIV) infection." Current Drug Targets 4(1):13-22.
Heckenlively, J. R., Chang, B., Erway, L. C., Peng, C., Hawes, N. L., Hageman, G. C. and Roderick, T. H. (1995). "Mouse model for Usher syndrome: Linkage mapping suggests homology to Usher type I reported at human chromosome 11p15." Proceedings of the National Academy of Sciences of the United States of America 92(24):11100-11104.
Heckenlively, J. R., Winston, J. V. and Roderick, T. H. (1989). "Screening for mouse retinal degenerations. I. Correlation of indirect ophthalmoscopy, electroretinograms, and histology." Documenta Ophthalmologica 71(3):229-239.
Heddi, A., Faure-Vigny, H., Wallace, D. C. and Stepien, G. (1996). "Coordinate expression of nuclear and mitochondrial genes involved in energy production in carcinoma and oncocytoma." Biochimica et Biophysica Acta 1316(3):203-209.
Heddi, A., Lestienne, P., Wallace, D. C. and Stepien, G. (1993). "Mitochondrial DNA expression in mitochondrial myopathies and coordinated expression of nuclear genes involved in ATP production." Journal of Biological Chemistry 268(16):12156-12163.
Heddi, A., Lestienne, P., Wallace, D. C. and Stepien, G. (1994). "Steady state levels of mitochondrial and nuclear oxidative phosphorylation transcripts in Kearns-Sayre syndrome." Biochimica et Biophysica Acta 1226(2):206-212.
Heddi, A., Stepien, G., Benke, P. J. and Wallace, D. C. (1999). "Coordinate induction of energy gene expression in tissues of mitochondrial disease patients." Journal of Biological Chemistry 274(33):22968-22976.
Hedges, S. B., Kumar, S. and Tamura, K. (1991). "Human origins and analysis of mitochondrial DNA sequences [letter; comment]." Science 255(5045):737-739.
Hedges, T. R., Sedwick, L. A. and Newman, N. J. (1995). "Two brothers with bilateral optic neuropathy." Survey of Ophthalmology 39(5):417-424.
Hedman, M., Brandstatter, A., Pimenoff, V., Sistonen, P., Palo, J. U., Parson, W. and Sajantila, A. (2007). "Finnish mitochondrial DNA HVS-I and HVS-II population data." Forensic Science International 172(2-3):171-178.
Heerdt, B. G., Chen, J., Stewart, L. R. and Augenlicht, L. H. (1994). "Polymorphisms, but lack of mutations or instability, in the promotor region of the mitochondrial genome in human colonic tumors." Cancer Research 54(14):3912-3915.
Hegele, R. A., Zinman, B., Hanley, A. J., Harris, S. and Connelly, P. W. (1997). "A common mtDNA polymorphism associated with variation in plasma triglyceride concentration [letter]." American Journal of Human Genetics 60(6):1552-1555.
Heher, K. L. and Johns, D. R. (1993). "A maculopathy associated with the 15257 mitochondrial DNA mutation." Archives of Ophthalmology 111(11):1495-1499.
Heidari, M. M., Keshmirshekan, A., Bidakhavidi, M., Khosravi, A., Bandari, Z., Khatami, M. and Nafissi, S. (2020). "A novel heteroplasmic mutation in mitochondrial tRNA(Arg) gene associated with non-dystrophic myotonias." Acta Neurologica Belgica 120(3):573-580.
Heilig, R., Eckenberg, R., Petit, J. L., Fonknechten, N., Da Silva, C., Cattolico, L., Levy, M., Barbe, V., de Berardinis, V., Ureta-Vidal, A., Pelletier, E., Vico, V., Anthouard, V., Rowen, L., Madan, A., Qin, S., Sun, H., Du, H., Pepin, K., Artiguenave, F., Robert, C., Cruaud, C., Bruls, T., Jaillon, O., Friedlander, L., Samson, G., Brottier, P., Cure, S., Segurens, B., Aniere, F., Samain, S., Crespeau, H., Abbasi, N., Aiach, N., Boscus, D., Dickhoff, R., Dors, M., Dubois, I., Friedman, C., Gouyvenoux, M., James, R., Mairey-Estrada, B., Mangenot, S., Martins, N., Menard, M., Oztas, S., Ratcliffe, A., Shaffer, T., Trask, B., Vacherie, B., Bellemere, C., Belser, C., Besnard-Gonnet, M., Bartol-Mavel, D., Boutard, M., Briez-Silla, S., Combette, S., Dufosse-Laurent, V., Ferron, C., Lechaplais, C., Louesse, C., Muselet, D., Magdelenat, G., Pateau, E., Petit, E., Sirvain-Trukniewicz, P., Trybou, A., Vega-Czarny, N., Bataille, E., Bluet, E., Bordelais, I., Dubois, M., Dumont, C., Guerin, T., Haffray, S., Hammadi, R., Muanga, J., Pellouin, V., Robert, D., Wunderle, E., Gauguet, G., Roy, A., Sainte-Marthe, L., Verdier, J., Verdier-Discala, C., Hillier, L., Fulton, L., McPherson, J., Matsuda, F., Wilson, R., Scarpelli, C., Gyapay, G., Wincker, P., Saurin, W., Quetier, F., Waterston, R., Hood, L. and Weissenbach, J. (2003). "The DNA sequence and analysis of human chromosome 14." Nature 421(6923):601-607.
Heiman-Patterson, T. D., Argov, Z., Chavin, J. M., Kalman, B., Alder, H., DiMauro, S., Bank, W. and Tahmoush, A. J. (1997). "Biochemical and genetic studies in a family with mitochondrial myopathy." Muscle & Nerve 20(10):1219-1224.
Helbling, B., von Overbeck, J. and Lauterburg, B. H. (1996). "Decreased release of glutathione into the systemic circulation of patients with HIV infection." European Journal of Clinical Investigation 26(1):38-44.
Helgason, A. and Stefansson, K. (2003). "Erroneous claims about the impact of mitochondrial DNA sequence database errors." American Journal of Human Genetics 73(4):974-975.
Helgason, A., Hickey, E., Goodacre, S., Bosnes, V., Stefansson, K., Ward, R. and Sykes, B. (2001). "mtDNA and the islands of the North Atlantic: estimating the proportions of Norse and Gaelic ancestry." American Journal of Human Genetics 68(3):723-737.
Helgason, A., Hrafnkelsson, B., Gulcher, J. R., Ward, R. and Stefansson, K. (2003). "A populationwide coalescent analysis of Icelandic matrilineal and patrilineal genealogies: evidence for a faster evolutionary rate of mtDNA lineages than Y chromosomes." American Journal of Human Genetics 72(6):1370-1388.
Helgason, A., Nicholson, G., Stefansson, K. and Donnelly, P. (2003). "A reassessment of genetic diversity in Icelanders: strong evidence from multiple loci for relative homogeneity caused by genetic drift." Annals of Human Genetics 67(Pt 4):281-297.
Helgason, A., Sigurdardottir, S., Nicholson, J., Sykes, B., Hill, E. W., Bradley, D. G., Bosnes, V., Gulcher, J. R., Ward, R. and Stefansson, K. (2000). "Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland." American Journal of Human Genetics 67(3):697-717.
Helgason, A., Sigurdardottir, S., Gulcher, J. R., Ward, R. and Stefansson, K. (2000). "mtDNA and the origin of the Icelanders: deciphering signals of recent population history." American Journal of Human Genetics 66(3):999-1016.
Helm, M., Brule, H., Degoul, F., Cepanec, C., Leroux, J. P., Giege, R. and Florentz, C. (1998). "The presence of modified nucleotides is required for cloverleaf folding of a human mitochondrial tRNA." Nucleic Acids Research 26(7):1636-1643.
Helm, M., Brule, H., Friede, D., Giege, R., Putz, D. and Florentz, C. (2000). "Search for characteristic structural features of mammalian mitochondrial tRNAs." Rna 6(10):1356-1379.
Helm, M., Florentz, C., Chomyn, A. and Attardi, G. (1999). "Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR)." Nucleic Acids Research 27(3):756-763.
Helm, M., Giege, R. and Florentz, C. (1999). "A Watson-Crick base-pair-disrupting methyl group (m1A9) is sufficient for cloverleaf folding of human mitochondrial tRNALys." Biochemistry 38(40):13338-13346.
Henderson, N. S., Nijtmans, L. G., Lindsay, J. G., Lamantea, E., Zeviani, M. and Holt, I. J. (2000). "Separation of intact pyruvate dehydrogenase complex using blue native agarose gel electrophoresis." Electrophoresis 21(14):2925-2931.
Hendrickson, S. L., Hutcheson, H. B., Ruiz-Pesini, E., Poole, J. C., Lautenberger, J., Sezgin, E., Kingsley, L., Goedert, J. J., Vlahov, D., Donfield, S., Wallace, D. C. and O'Brien, S. J. (2008). "Mitochondrial DNA haplogroups influence AIDS progression". AIDS 22(18):2429-2439.
Hendrickson, S. L., Kingsley, L. A., Ruiz-Pesini, E., Poole, J. C., Jacobson, L. P., Palella, F. J., Bream, J. H., Wallace, D. C. and O'Brien, S. J. (2009). "Mitochondrial DNA haplogroups influence lipoatrophy after highly active anti-retroviral therapy". Journal of Acquired Immune Deficiency Syndromes 51(2):111-116.
Henriques, M., Diogo, L., Garcia, P., Pratas, J., Simoes, M. and Grazina, M. (2012). "Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association." Journal of Child Neurology 27(8):1059-1061.
Henshaw, R., Jenkins, B. G., Schulz, J. B., Ferrante, R. J., Kowall, N. W., Rosen, B. R. and Beal, M. F. (1994). "Malonate produces striatal lesions by indirect NMDA receptor activation." Brain Research 647(1):161-166.
Herlan, M., Vogel, F., Bornhovd, C., Neupert, W. and Reichert, A. S. (2003). "Processing of Mgm1 by the rhomboid-type protease Pcp1 is required for maintenance of mitochondrial morphology and of mitochondrial DNA." Journal of Biological Chemistry 278(30):27781-27788.
Herlyn, H. and Zischler, H. (2006). "Primate genomes." Genome Dyn 2:17-32.
Hermann, G. J., Thatcher, J. W., Mills, J. P., Hales, K. G., Fuller, M. T., Nunnari, J. and Shaw, J. M. (1998). "Mitochondrial fusion in yeast requires the transmembrane GTPase Fzo1p." Journal of Cell Biology 143(2):359-373.
Hernandez, C. L., Dugoujon, J. M., Novelletto, A., Rodriguez, J. N., Cuesta, P. and Calderon, R. (2017). "The distribution of mitochondrial DNA haplogroup H in southern Iberia indicates ancient human genetic exchanges along the western edge of the Mediterranean." BMC Genetics 18(1):46.
Hernandez, J. M., Blat, B., Iruela, C., Vila, F. and Hernandez-Yago, J. (1998). "Identification of two processed psuedogenes of the human Tom20 gene." Molecular and General Genetics 258(1-2):117-122.
Herrero-Martin, M. D., Pineda, M., Briones, P., Lopez-Gallardo, E., Carreras, M., Benac, M., Angel Idoate, M., Vilaseca, M. A., Artuch, R., Lopez-Perez, M. J., Ruiz-Pesini, E. and Montoya, J. (2008). "A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1)." Human Mutation (Online) 29:E103-E111.
Herrnstadt, C. and Howell, N. (2004). "An evolutionary perspective on pathogenic mtDNA mutations: haplogroup associations of clinical disorders." Mitochondrion 4(5-6):791-798.
Herrnstadt, C., Elson, J. L., Fahy, E., Preston, G., Turnbull, D. M., Anderson, C., Ghosh, S. S., Olefsky, J. M., Beal, M. F., Davis, R. E. and Howell, N. (2002). "Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups." American Journal of Human Genetics 70(5):1152-1171.
Herrnstadt, C., Preston, G., Andrews, R., Chinnery, P., Lightowlers, R. N., Turnbull, D. M., Kubacka, I. and Howell, N. (2002). "A high frequency of mtDNA polymorphisms in HeLa cell sublines." Mutation Research 501(1-2):19-28.
Hertweck, K. L. and Dasgupta, S. (2017). "The landscape of mtDNA modifications in cancer: a tale of two cities." Frontiers in Oncology 7:262.
Hertzberg, M., Mickleson, K. N. P., Serjeantson, S. W., Prior, J. F. and Trent, R. J. (1989). "An Asian specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians." American Journal of Human Genetics 44(4):504-510.
Herzberg, N. H., van Schooneveld, M. J., Bleeker-Wagemakers, E. M., Zwart, R., Cremers, F. P., van der Knaap, M. S., Bolhuis, P. A. and deVisser, M. (1993). "Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy." Neurology 43(1):218-221.
Herzenberg, L. A., De Rosa, S. C., Dubs, J. G., Roederer, M., Anderson, M. T., Ela, S. W. and Deresinski, S. C. (1997). "Glutathione deficiency is associated with impaired survival in HIV disease." Proceedings of the National Academy of Sciences of the United States of America 94(5):1967-1972.
Hess, J. F., Parisi, M. A., Bennett, J. L. and Clayton, D. A. (1991). "Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies." Nature 351(6323):236-239.
Hess, J., Burkhard, P., Morris, M., Lalioti, M., Myers, P. and Hadengue, A. (1995). "Ischaemic colitis due to mitochondrial cytopathy." Lancet 346(8968):189-190.
Hey, J. (1997). "Mitochondrial and nuclear genes present conflicting portraits of human origins." Molecular Biology & Evolution 14(2):166-172.
Hey, J. (1998). "Population genetics and human origins--haplotypes are key!" Trends in Genetics 14(8):303-305.
Hey, J. (2000). "Human mitochondrial DNA recombination: can it be true?" Trends in Ecology and Evolution 15(5):181-182.
Hey, Y., Hoggard, N., Burt, E., James, L. A. and Varley, J. M. (1997). "Assignment of COX6A1 to 6p21 and a pseudogene (COX6A1P) to 1p31.1 by in situ hybridization and somatic cell hybrids." Cytogenetics and Cell Genetics 77(3-4):167-168.
Heyer, E., Zietkiewicz, E., Rochowski, A., Yotova, V., Puymirat, J. and Labuda, D. (2001). "Phylogenetic and familial estimates of mitochondrial substitution rates: study of control region mutations in deep-rooting pedigrees." American Journal of Human Genetics 69(5):1113-1126.
Higashikata, T., Koyama, J., Shimada, H., Yazaki, M., Owa, M. and Ikeda, S. (2001). "An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction as the main symptom." Internal Medicine (Tokyo) 40(5):405-408.
Higashimoto, T., Baldwin, E. E., Gold, J. I. and Boles, R. G. (2008). "Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance." Archives of Disease in Childhood 93(5):390-397.
Hightower, M. J., Fairfield, F. R. and Lucas, J. J. (1981). "A staining procedure for identifying viable cell hybrids constructed by somatic cell fusion, cybridization, or nuclear transplantation." Somatic Cell Genetics 7(3):321-329.
Higuti, T., Kawamura, Y., Kuroiwa, K., Miyazaki, S. and Tsujita, H. (1993). "Molecular cloning and sequence of two cDNAs for human subunit c of H+-ATP synthase in mitochondria." Biochim Biophys Acta 1173(1):87-90.
Higuti, T., Tsurumi, C., Osaka, F., Kawamura, Y., Tsujita, H., Yoshihara, Y., Tani, I., Tanaka, K. and Ichihara, A. (1991). "Molecular cloning of cDNA for the import precursor of human subunit B of H(+)-ATP synthase in mitochondria." Biochemical and Biophysical Research Communications 178(3):1014-1020.
Hiida, Y., Mashima, Y., Oguchi, Y., Kudoh, J., Sakai, K. and Shimizu, N. (1992). "Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy." In Molecular Approaches to the Study and Treatment of Human Diseases: 69-71; Amsterdam, Elsevier Science Publishers. Yoshida, T. O. and Wilson, J. M., Eds.
Hiida, Y., Mashima, Y., Oguchi, Y., Uemura, Y., Kudoh, J., Sakai, K. and Shimizu, N. (1991). "Mitochondrial DNA analysis of Leber's hereditary optic neuropathy." Japanese Journal of Ophthalmology 35(1):102-106.
Hildeman, D. A., Mitchell, T., Teague, T. K., Henson, P., Day, B. J., Kappler, J. and Marrack, P. C. (1999). "Reactive oxygen species regulate activation-induced T cell apoptosis." Immunity 10(6):735-744.
Hill, B. C. (1993). "The sequence of electron carriers in the reaction of cytochrome c oxidase with oxygen." Journal of Bioenergetics and Biomembranes 25(2):115-120.
Hill, C., Soares, P., Mormina, M., Macaulay, V., Clarke, D., Blumbach, P. B., Vizuete-Forster, M., Forster, P., Bulbeck, D., Oppenheimer, S. and Richards, M. (2007). "A mitochondrial stratigraphy for island southeast Asia." American Journal of Human Genetics 80(1):29-43.
Hill, C., Soares, P., Mormina, M., Macaulay, V., Meehan, W., Blackburn, J., Clarke, D., Raja, J. M., Ismail, P., Bulbeck, D., Oppenheimer, S. and Richards, M. (2006). "Phylogeography and ethnogenesis of aboriginal Southeast Asians." Molecular Biology and Evolution 23(12):2480-2491.
Hill, D., Wintersgill, S., Stott, L., Cadge, B. and Graham, J. (2001). "Cochlear implantation in a profoundly deaf patient with MELAS syndrome." Journal of Neurology, Neurosurgery, and Psychiatry 71(2):281.
Hill, K., Model, K., Ryan, M. T., Dietmeier, K., Martin, F., Wagner, R. and Pfanner, N. (1998). "Tom40 forms the hydrophilic channel of the mitochondrial import pore for preproteins [see comment]." Nature 395(6701):516-521.
Hiniker, A., Wong, L. J., Berven, S., Truong, C. K., Adesina, A. M. and Margeta, M. (2014). "Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis." Acta Neuropathol Commun 2:137.
Hino, N., Suzuki, T., Yasukawa, T., Seio, K., Watanabe, K. and Ueda, T. (2004). "The pathogenic A4269G mutation in human mitochondrial tRNA(Ile) alters the T-stem structure and decreases the binding affinity for elongation factor Tu." Genes to Cells: Devoted to Molecular and Cellular Mechanisms 9(3):243-252.
Hinokio, Y., Suzuki, S., Komatu, K., Ohtomo, M., Onoda, M., Matsumoto, M., Hirai, S., Sato, Y., Akai, H., Abe, K. and Toyota, T. (1995). "A new mitochondrial DNA deletion associated with diabetic amyotrophy, diabetic myoatrophy and diabetic fatty liver." Muscle and Nerve 3(9):S142-149.
Hinttala, R., Kervinen, M., Uusimaa, J., Maliniemi, P., Finnila, S., Rantala, H., Remes, A. M., Hassinen, I. E. and Majamaa, K. (2010). "Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: Mutagenesis of homologous positions in Escherichia coli." Mitochondrion 10(4):358-361.
Hinttala, R., Smeets, R., Moilanen, J. S., Ugalde, C., Uusimaa, J., Smeitink, J. A. and Majamaa, K. (2006). "Analysis of mitochondrial DNA sequences in children with isolated or combined oxidative phosphorylation system deficiency." Journal of Medical Genetics 43(11):881-886.
Hiona, A. and Leeuwenburgh, C. (2008). "The role of mitochondrial DNA mutations in aging and sarcopenia: implications for the mitochondrial vicious cycle theory of aging." Experimental Gerontology 43(1):24-33.
Hippen, M., Zsurka, G., Peeva, V., Machts, J., Schwiecker, K., Debska-Vielhaber, G., Wiesner, R., Vielhaber, S. and Kunz, W. (2022). "Novel pathogenic sequence variation m.5789T>C causes NARP syndrome and promotes formation of deletions of the mitochondrial genome." Neurology Genetics 8(2):e660.
Hirai, M., Suzuki, S., Onoda, M., Hinokio, Y., Hirai, A., Ohtomo, M., Chiba, M., Kasuga, S., Hirai, S., Satoh, Y., Akai, H., Miyabayashi, S. and Toyota, T. (1998). "Mitochondrial deoxyribonucleic acid 3256C-T mutation in a Japanese family with noninsulin-dependent diabetes mellitus." Journal of Clinical Endocrinology & Metabolism 83(3):992-994.
Hirano, M. and Pavlakis, S. G. (1994). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts." Journal of Child Neurology 9(1):4-13.
Hirano, M. and Vu, T. H. (2000). "Defects of intergenomic communication: where do we stand?" Brain Pathology 10(3):451-461.
Hirano, M., Angelini, C., Montagna, P., Hays, A. P., Tanji, K., Mitsumoto, H., Gordon, P. H., Naini, A. B., DiMauro, S. and Rowland, L. P. (2008). "Amyotrophic lateral sclerosis with ragged-red fibers." Archives of Neurology 65(3):403-406.
Hirano, M., Emmanuele, V. and Quinzii, C. M. (2018). "Emerging therapies for mitochondrial diseases." Essays in Biochemistry 62(3):467-481.
Hirano, M., Lagier-Tourenne, C., Valentino, M. L., Marti, R. and Nishigaki, Y. (2005). "Thymidine phosphorylase mutations cause instability of mitochondrial DNA." Gene 354:152-156.
Hirano, M., Marti, R., Casali, C., Tadesse, S., Uldrick, T., Fine, B., Escolar, D. M., Valentino, M. L., Nishino, I., Hesdorffer, C., Schwartz, J., Hawks, R. G., Martone, D. L., Cairo, M. S., Dimauro, S., Stanzani, M., Garvin, J. H., Jr. and Savage, D. G. (2006). "Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE." Neurology 67(8):1458-1460.
Hirano, M., Nishigaki, Y. and Marti, R. (2004). "Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes." Neurologist 10(1):8-17.
Hirano, M., Shtilbans, A., Mayeux, R., Davidson, M. M., DiMauro, S., Knowles, J. A. and Schon, E. A. (1997). "Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes." Proceedings of the National Academy of Sciences of the United States of America 94(26):14894-14899.
Hirano, M., Silvestri, G., Blake, D. M., Lombes, A., Minetti, C., Bonilla, E., Hays, A. P., Lovelace, R. E., Butler, I., Bertorini, T. E. and et al. (1994). "Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder." Neurology 44(4):721-727.
Hirawake, H., Taniwaki, M., Tamura, A., Kojima, S. and Kita, K. (1997). "Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23." Cytogenetics and Cell Genetics 79(1-2):132-138.
Hirawake, H., Wang, H., Kuramochi, T., Kojima, S. and Kita, K. (1994). "Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the flavoprotein (Fp) subunit of liver mitochondria." Journal of Biochemistry (Tokyo) 116(1):221-227.
Hirosawa, H., Nukui, T., Noguchi, K. and Nakatsuji, Y. (2022). "Adult-onset Leigh syndrome due to an m.13513G>A mutation." Internal Medicine 61(10):1627-1628.
Hirose, K., Longo, D. L., Oppenheim, J. J. and Matsushima, K. (1993). "Overexpression of mitochondrial manganese superoxide dismutase promotes the survival of tumor cells exposed to interleukin-1, tumor necrosis factor, selected anticancer drugs, and ionizing radiation." FASEB Journal 7(2):361-368.
Hirose, M., Schilf, P., Benoit, S., Eming, R., Glaser, R., Homey, B., Kunz, M., Nebel, A., Peitsch, W. K., Pfohler, C., Sardy, M., Schreiber, S., Zillikens, D., Schmidt, E., Ibrahim, S. M. and German, A. G. S. G. (2015). "Polymorphisms in the mitochondrially encoded ATP synthase 8 gene are associated with susceptibility to bullous pemphigoid in the German population." Experimental Dermatology 24(9):715-717.
Hirose, M., Schilf, P., Gupta, Y., Zarse, K., Kunstner, A., et al. (2018). "Low-level mitochondrial heteroplasmy modulates DNA replication, glucose metabolism and lifespan in mice." Scientific Reports 8(1):5872.
Hirsch, E. C. (1992). "Why are nigral catecholaminergic neurons more vulnerable than other cells in Parkinson's disease?" Annals of Neurology 32 Suppl:S88-93.
Hirsch, J. D., Beyer, C. F., Malkowitz, L., Beer, B. and Blume, A. J. (1989). "Mitochondrial benzodiazepine receptors mediate inhibition of mitochondrial respiratory control." Molecular Pharmacology 35(1):157-163.
Hirsch, J. D., Beyer, C. F., Malkowitz, L., Loullis, C. C. and Blume, A. J. (1989). "Characterization of ligand binding to mitochondrial benzodiazepine receptors." Molecular Pharmacology 35(1):164-172.
Hirsch, T., Decaudin, D., Susin, S. A., Marchetti, P., Larochette, N., Resche-Rigon, M. and Kroemer, G. (1998). "PK11195, a ligand of the mitochondrial benzodiazepine receptor, facilitates the induction of apoptosis and reverses Bcl-2-mediated cytoprotection." Experimental Cell Research 241(2):426-434.
Hirt, L., Magistretti, P. J., Bogousslavsky, J., Boulat, O. and Borruat, F. X. (1996). "Large deletion (7.2 kb) of mitochondrial DNA with novel boundaries in a case of progressive external ophthalmoplegia [letter]." Journal of Neurology, Neurosurgery and Psychiatry 61(4):422-423.
Hirvas, L., Koski, P. and Vaara, M. (1991). "Identification and sequence analysis of the gene mutated in the conditionally lethal outer membrane permeability mutant SS-C of Salmonella typhimurium." EMBO Journal 10(4):1017-1023.
Hixson, J. E. and Clayton, D. A. (1985). "Initiation of transcription from each of the two human mitochondrial promoters requires unique nucleotides at the transcriptional start sites." Proceedings of the National Academy of Sciences of the United States of America 82(9):2660-2664.
Hixson, J. E., Wong, T. W. and Clayton, D. A. (1986). "Both the conserved stem-loop and divergent 5'-flanking sequences are required for initiation at the human mitochondrial origin of light-strand DNA replication." Journal of Biological Chemistry 261(5):2384-2390.
Hiyama, T., Tanaka, S., Shima, H., Kose, K., Kitadai, Y., Ito, M., Sumii, M., Yoshihara, M., Shimamoto, F., Haruma, K. and Chayama, K. (2003). "Somatic mutation of mitochondrial DNA in Helicobacter pylori-associated chronic gastritis in patients with and without gastric cancer." International Journal of Molecular Medicine 12(2):169-174.
Hiyama, T., Tanaka, S., Shima, H., Kose, K., Tuncel, H., Ito, M., Kitadai, Y., Sumii, M., Yoshihara, M., Shimamoto, F., Haruma, K. and Chayama, K. (2003). "Somatic mutation in mitochondrial DNA and nuclear microsatellite instability in gastric cancer." Oncology Reports 10(6):1837-1841.
Hjelm, B. E., Rollins, B., Morgan, L., Sequeira, A., Mamdani, F., et al. (2019). "Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders." Nucleic Acids Research 47(10):e59.
Ho, Y. S. and Crapo, J. D. (1988). "Isolation and characterization of complementary DNAs encoding human manganese-containing superoxide dismutase." FEBS Letters 229(2):256-260.
Hobbie, S. N., Bruell, C. M., Akshay, S., Kalapala, S. K., Shcherbakov, D. and Bottger, E. C. (2008). "Mitochondrial deafness alleles confer misreading of the genetic code." Proceedings of the National Academy of Sciences of the United States of America 105(9):3244-3249.
Hockenbery, D., Nunez, G., Milliman, C., Schreiber, R. D. and Korsmeyer, S. J. (1990). "Bcl-2 is an inner mitochondrial membrane protein that blocks programmed cell death." Nature 348(6299):334-336.
Hodgkinson, A., Idaghdour, Y., Gbeha, E., Grenier, J. C., Hip-Ki, E., Bruat, V., Goulet, J. P., de Malliard, T. and Awadalla, P. (2014). "High-resolution genomic analysis of human mitochondrial RNA sequence variation". Science 344(6182):413-415.
Hoefs, S. J., van Spronsen, F. J., Lenssen, E. W., Nijtmans, L. G., Rodenburg, R. J., Smeitink, J. A. and van den Heuvel, L. P. (2011). "NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease". European Journal of Human Genetics 19(3):270-274.
Hoeser, F., Weiss, M. and Friedrich, T. (2022). "The clinically relevant triple mutation in the mtND1 gene inactivates Escherichia coli complex I." FEBS Letters doi: 10.1002/1873-3468.14325 </p
Hoess, R. H. and Abremski, K. (1984). "Interaction of the bacteriophage P1 recombinase Cre with the recombining site loxP." Proceedings of the National Academy of Sciences of the United States of America 81(4):1026-1029.
Hoess, R. H., Ziese, M. and Sternberg, N. (1982). "P1 site-specific recombination: nucleotide sequence of the recombining sites." Proceedings of the National Academy of Sciences of the United States of America 79(11):3398-3402.
Hoffbuhr, K. C., Davidson, E., Filiano, B. A., Davidson, M., Kennaway, N. G. and King, M. P. (2000). "A pathogenic 15-base pair deletion in mitochondrial DNA-encoded cytochrome c oxidase subunit III results in the absence of functional cytochrome c oxidase." Journal of Biological Chemistry 275(18):13994-14003.
Hoffman, G. G., Lee, S., Christiano, A. M., Chung-Honet, L. C., Cheng, W., Katchman, S., Uitto, J. and Greenspan, D. S. (1993). "Complete coding sequence, intron/exon organization, and chromosomal location of the gene for the core I protein of human ubiquinol- cytochrome c reductase." Journal of Biological Chemistry 268(28):21113-21119.
Hofhaus, G. and Attardi, G. (1993). "Lack of assembly of mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase and loss of enzyme activity in a human cell mutant lacking the mitochondrial ND4 gene product [published erratum appears in EMBO J 1994 Dec 1;13(23):5794]v." EMBO Journal 12(8):3043-3048.
Hofhaus, G. and Attardi, G. (1995). "Efficient selection and characterization of mutants of a human cell line which are defective in mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase (published erratum appears in Mol Cell Biol 1995 Jun;15(6):3461)." Molecular and Cellular Biology 15(2):964-974.
Hofhaus, G., Johns, D. R., Hurko, O., Attardi, G. and Chomyn, A. (1996). "Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy." Journal of Biological Chemistry 271(22):13155-13161.
Hofmann, S., Bezold, R., Jaksch, M., Kaufhold, P., Obermaier-Kusser, B. and Gerbitz, K. D. (1997). "Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome." Molecular & Cellular Biochemistry 174(1-2):209-213.
Hofmann, S., Bezold, R., Jaksch, M., Obermaier-Kusser, B., Mertens, S., Kaufhold, P., Rabl, W., Hecker, W. and Gerbitz, K. D. (1997). "Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes." Genomics 39(1):8-18.
Hofmann, S., Jaksch, M., Bezold, R., Mertens, S., Aholt, S., Paprotta, A. and Gerbitz, K. D. (1997). "Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease." Human Molecular Genetics 6(11):1835-1846.
Hofmann, S., Lichtner, P., Schuffenhauer, S., Gerbitz, K. D. and Meitinger, T. (1998). "Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FISH and radiation hybrid mapping." Cytogenetics and Cell Genetics 83(3-4):226-227.
Hogan, D. J. and Maibach, H. I. (1990). "Adverse dermatologic reactions to transdermal drug delivery systems." Journal of the American Academy of Dermatology 22(5 Pt 1):811-814.
Holland, M. M., Fisher, D. L., Mitchell, L. G., Rodriguez, W. C., Canik, J. J., Merril, C. R. and Weedn, V. W. (1993). "Mitochondrial DNA sequence analysis of human skeletal remains: identification of remains from the Vietnam war." Journal of Forensic Sciences 38(3):542-553.
Hollmann, M. and Heinemann, S. (1994). "Cloned glutamate receptors." Annual Review of Neuroscience 17:31-108.
Holme, E., Greter, J., Jacobson, C. E., Larsson, N. G., Lindstedt, S., Nilsson, K. O., Oldfors, A. and Tulinius, M. (1992). "Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria." Pediatric Research 32(6):731-735.
Holme, E., Larsson, N. G., L., Oldfors, A., Tulinius, M., Sahlin, P. and Stenman, G. (1993). "Multiple symmetric lipomas with high levels of mtDNA with the tRNALys A-G (8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome." American Journal of Human Genetics 52(3):551-556.
Holme, E., Tulinius, M. H., Larsson, N. G. and Oldfors, A. (1995). "Inheritance and expression of mitochondrial DNA point mutations." Biochimica et Biophysica Acta 1271(1):249-252.
Holmes-Walker, D. J., Mitchell, P. and Boyages, S. C. (1998). "Does mitochondrial genome mutation in subjects with maternally inherited diabetes and deafness decrease severity of diabetic retinopathy?" Diabetic Medicine 15(11):946-952.
Holmuhamedov, E., Jahangir, A., Bienengraeber, M., Lewis, L. D. and Terzic, A. (2003). "Deletion of mtDNA disrupts mitochondrial function and structure, but not biogenesis." Mitochondrion 3(1):13-19.
Holt, I. J. (2010). "Zen and the art of mitochondrial DNA maintenance." Trends in Genetics 26(3):103-109.
Holt, I. J. (2019). "The mitochondrial R-loop." Nucleic Acids Research 47(11):5480-5489.
Holt, I. J. and Jacobs, H. T. (2003). "Response: The mitochondrial DNA replication bubble has not burst." Trends in Biochemical Sciences 28(7):355-356.
Holt, I. J. and Reyes, A. (2012). "Human mitochondrial DNA replication." Cold Spring Harbor. Perspectives in Biology 4(12):a012971.
Holt, I. J., Harding, A. E. and Morgan-Hughes, J. A. (1988). "Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies." Nature 331(6158):717-719.
Holt, I. J., Harding, A. E. and Morgan-Hughes, J. A. (1988). "Mitochondrial DNA polymorphism in mitochondrial myopathy." Human Genetics 79(1):53-57.
Holt, I. J., Harding, A. E. and Morgan-Hughes, J. A. (1989). "Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms." Nucleic Acids Research 17(12):4465-4469.
Holt, I. J., Harding, A. E., Cooper, J. M., Schapira, A. H., Toscano, A., Clark, J. B. and Morgan-Hughes, J. A. (1989). "Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA." Annals of Neurology 26(6):699-708.
Holt, I. J., Harding, A. E., Petty, R. K. and Morgan-Hughes, J. A. (1990). "A new mitochondrial disease associated with mitochondrial DNA heteroplasmy." American Journal of Human Genetics 46(3):428-433.
Holt, I. J., Lorimer, H. E. and Jacobs, H. T. (2000). "Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA." Cell 100(5):515-524.
Holt, I. J., Miller, D. H. and Harding, A. E. (1988). "Restriction endonuclease analysis of leukocyte mitochondrial DNA in Leber's optic atrophy." Journal of Neurology, Neurosurgery and Psychiatry 51(8):1075-1077.
Holt, I. J., Miller, D. H. and Harding, A. E. (1989). "Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy." Journal of Medical Genetics 26(12):739-743.
Holt, I. J., Speijer, D. and Kirkwood, T. B. (2014). "The road to rack and ruin: selecting deleterious mitochondrial DNA variants." Philosophical Transactions B of the Royal Society 369(1646):20130451.
Hommes, F. A., Polman, H. A. and Reerink, J. D. (1968). "Leigh's encephalomyelopathy: an inborn error of gluconeogenesis." Archives of Disease in Childhood 43(230):423-426.
Honzik, T., Tesarova, M., Magner, M., Mayr, J., Jesina, P., Vesela, K., Wenchich, L., Szentivanyi, K., Hansikova, H., Sperl, W. and Zeman, J. (2012). "Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis." Journal of Inherited Metabolic Disease 35(5):749-759.
Honzik, T., Tesarova, M., Vinsova, K., Hansikova, H., Magner, M., Kratochvilova, H., Zamecnik, J., Zeman, J. and Jesina, P. (2013). "Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene." Molecular Genetics and Metabolism 108(1):102-105.
Hood, D. A. and Joseph, A. M. (2005). "Mechanisms of mitochondrial disease and the role of exercise: a symposium." Medicine and Science in Sports and Exercise 37(12):2084-2085.
Hopkin, K. (1999). "Death to sperm mitochondria [news]." Scientific American 280(3):21.
Horai, S. and Hayasaka, K. (1990). "Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA." American Journal of Human Genetics 46(4):828-842.
Horai, S. and Matsunaga, E. (1986). "Mitochondrial DNA polymorphism in Japanese. II. Analysis with restriction enzymes of four or five base pair recognition." Human Genetics 72(2):105-117.
Horai, S., Gojobori, T. and Matsunaga, E. (1984). "Mitochondrial DNA polymorphism in Japanese. I. Analysis with restriction enzymes of six base pair recognition." Human Genetics 68(4):324-332.
Horai, S., Hayasaka, K., Kondo, R., Tsugane, K. and Takahata, N. (1995). "Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs." Proceedings of the National Academy of Sciences of the United States of America 92(2):532-536.
Horai, S., Kondo, R., Murayama, K., Hayashi, S., Koike, H. and Nakai, K. (1991). "Phylogenetic affiliation of ancient and contemporary humans inferred from mitochondrial DNA." Philosophical Transactions of the Royal Society of London - Series B: Biological Sciences 333(1268):409-417.
Horai, S., Kondo, R., Nakagawa-Hattori, Y., Hayashi, S., Sonoda, S. and Tajima, K. (1993). "Peopling of the Americas, founded by four major lineages of mitochondrial DNA." Molecular Biology and Evolution 10(1):23-47.
Horai, S., Murayama, K., Hayasaka, K., Matsubayashi, S., Hattori, Y., Fucharoen, G., Harihara, S., Park, K. S., Omoto, K. and Pan, I. H. (1996). "mtDNA polymorphism in East Asian Populations, with special reference to the peopling of Japan." American Journal of Human Genetics 59(3):579-590.
Hornig, B., Arakawa, N., Kohler, C. and Drexler, H. (1998). "Vitamin C improves endothelial function of conduit arteries in patients with chronic heart failure." Circulation 97(4):363-368.
Horton, T. M., Graham, B. H., Corral-Debrinski, M., Shoffner, J. M., Kaufman, A. E., Beal, B. F. and Wallace, D. C. (1995). "Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's Disease patients." Neurology 45(10):1879-1883.
Horton, T. M., Petros, J. A., Heddi, A., Shoffner, J., Kaufman, A. E., Graham, S. D., Jr., Gramlich, T. and Wallace, D. C. (1996). "Novel mitochondrial DNA deletion found in a renal cell carcinoma." Genes, Chromosomes & Cancer 15(2):95-101.
Horvath, J., Horvath, R., Karcagi, V., Komoly, S. and Johns, D. R. (2002). "Sequence analysis of Hungarian LHON patients not carrying the common primary mutations." Journal of Inherited Metabolic Disease 25(4):323-324.
Horvath, R., Fu, K., Johns, T., Genge, A., Karpati, G. and Shoubridge, E. A. (1998). "Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis." Journal of Neuropathology & Experimental Neurology 57(5):396-403.
Horvath, R., Kemp, J. P., Tuppen, H. A., Hudson, G., Oldfors, A., et al. (2009). "Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy." Brain 132(Pt 11):3165-3174.
Horvath, R., Scharfe, C., Hoeltzenbein, M., Do, B. H., Schroder, C., Warzok, R., Vogelgesang, S., Lochmuller, H., Muller-Hocker, J., Gerbitz, K. D., Oefner, P. J. and Jaksch, M. (2002). "Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene." Journal of Medical Genetics 39(11):812-816.
Horvath, R., Schoser, B. G., Muller-Hocker, J., Volpel, M., Jaksch, M. and Lochmuller, H. (2005). "Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy." Neuromuscular Disorders 15(12):851-857.
Hoshino, S., Tamaoka, A., Ohkoshi, N., Shoji, S. and Goto, Y. (1997). "[A case of mitochondrial encephalomyopathy showing ophthalmoplegia, diabetes mellitus and hearing loss associated with the A3243G mutation of mitochondrial DNA]." Rinsho Shinkeigaku - Clinical Neurology 37(4):326-330.
Hosler, J. P., Ferguson-Miller, S., Calhoun, M. W., Thomas, J. W., Hill, J., Lemieux, L., Ma, J., Georgiou, C., Fetter, J., Shapleigh, J., Tecklenburg, M. M. J., Babcock, G. T. and Gennis, R. B. (1993). "Insight into the active-site structure and function of cytochrome oxidase by analysis of site-directed mutants of bacterial cytochrome aa3 and cytochrome bo." Journal of Bioenergetics and Biomembranes 25(2):121-136.
Hosokawa, Y., Suzuki, H., Nishikimi, M., Matsukage, A., Yoshida, M. C. and Ozawa, T. (1990). "Chromosomal assignment of the gene for the ubiquinone-binding protein of human mitochondrial cytochrome bc1 complex." Biochemistry International 21(1):41-44.
Hosokawa, Y., Suzuki, H., Toda, H., Nishikimi, M. and Ozawa, T. (1989). "Complementary DNA encoding core protein II of human mitochondrial cytochrome bc1 complex. Substantial diversity in deduced primary structure from its yeast counterpart." Journal of Biological Chemistry 264(23):13483-13488.
Hosseini, S. H., Kohler, J. J., Haase, C. P., Tioleco, N., Stuart, T., Keebaugh, E., Ludaway, T., Russ, R., Green, E., Long, R., Wang, L., Eriksson, S. and Lewis, W. (2007). "Targeted transgenic overexpression of mitochondrial thymidine kinase (TK2) alters mitochondrial DNA (mtDNA) and mitochondrial polypeptide abundance: transgenic TK2, mtDNA, and antiretrovirals." American Journal of Pathology 170(3):865-874.
Hotta, O., Inoue, C. N., Miyabayashi, S., Furuta, T., Takeuchi, A. and Taguma, Y. (2001). "Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation." Kidney International 59(4):1236-1243.
Hotta, Y., Hayakawa, M., Saito, K., Kanai, A., Nakajima, A. and Fujiki, K. (1989). "Diagnosis of Leber's optic neuropathy by means of polymerase chain reaction amplification." American Journal of Ophthalmology 108(5):601-602.
Hou, J. H. and Wei, Y. H. (1998). "AT-rich sequences flanking the 5'-end breakpoint of the 4977-bp deletion of human mitochondrial DNA are located between two bent-inducing DNA sequences that assume distorted structure in organello." Mutation Research 403(1-2):75-84.
Hougaard, D. D., Hestoy, D. H., Hojland, A. T., Gailhede, M. and Petersen, M. B. (2019). "Audiological and vestibular findings in subjects with MELAS syndrome." The Journal of International Advanced Otology 15(2):296-303.
Houldsworth, J. and Attardi, G. (1988). "Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver." Proceedings of the National Academy of Sciences of the United States of America 85(2):377-381.
Houshmand, M., Gardner, A., Hallstrom, T., Muntzing, K., Oldfors, A. and Holme, E. (2004). "Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood." Neuromuscular Disorders 14(3):195-201.
Houshmand, M., Larsson, N. G., Holme, E., Oldfors, A., Tulinius, M. H. and Andersen, O. (1994). "Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy." Biochimica et Biophysica Acta 1226(1):49-55.
Houshmand, M., Larsson, N. G., Oldfors, A., Tulinius, M. and Holme, E. (1996). "Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gene." Human Genetics 97(3):269-273.
Houshmand, M., Lindberg, C., Moslemi, A. R., Oldfors, A. and Holme, E. (1999). "A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring." Human Mutation 13(3):203-209.
Houshmand, M., Mahmoudi, T., Panahi, M. S., Seyedena, Y., Saber, S. and Ataei, M. (2006). "Identification of a new human mtDNA polymorphism (A14290G) in the NADH dehydrogenase subunit 6 gene." Brazilian Journal of Medical and Biological Research 39(6):725-730.
Houshmand, M., Montazeri, M., Kuchekian, N., Noohi, F., Nozar, G. and Zamani, A. (2011). "Is 8860 variation a rare polymorphism or associated as a secondary effect in HCM disease?" Archives of Medical Science 7(2):242-246.
Houshmand, M., Panahi, M. S., Hosseini, B. N., Dorraj, G. H. and Tabassi, A. R. (2006). "Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic progressive external opthalmoplegia." Neurology India 54(2):182-185.
Houshmand, M., Panahi, M. S., Nafisi, S., Soltanzadeh, A. and Alkandari, F. M. (2006). "Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia." Mitochondrion 6(2):87-93.
Houshmand, M., Sanati, M. H., Rashedi, I., Sharifpanah, F., Asghari, E. and Lotfi, J. (2004). "Lack of association between Leber's hereditary optic neuropathy primary point mutations and multiple sclerosis in Iran." European Neurology 51(2):68-71.
Houshmand, M., Sharifpanah, F., Tabasi, A., Sanati, M. H., Vakilian, M., Lavasani, S. H. and Joughehdoust, S. (2004). "Leber's hereditary optic neuropathy: the spectrum of mitochondrial DNA mutations in Iranian patients." Annals of the New York Academy of Sciences 1011:345-349.
Houstek, J., Klement, P., Hermanska, J., Houstkova, H., Hansikova, H., Van den Bogert, C. and Zeman, J. (1995). "Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA." Biochimica et Biophysica Acta 1271(2-3):349-357.
Howell, N. (1990). "Glycine-231 residue of the mouse mitochondrial protonmotive cytochrome b: mutation to aspartic acid deranges electron transport." Biochemistry 29(38):8970-8977.
Howell, N. (1994). "Mitochondrial gene mutations and human diseases: a prolegomenon [editorial]." American Journal of Human Genetics 55(2):219-224.
Howell, N. (1997). "Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?" Journal of Bioenergetics & Biomembranes 29(2):165-173.
Howell, N. (1997). "Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve." Vision Research 37(24):3495-3507.
Howell, N. (1998). "Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve." Vision Research 38(10):1495-1504.
Howell, N. (1999). "Human mitochondrial diseases: answering questions and questioning answers." International Review of Cytology 186:49-116.
Howell, N. (2003). "LHON and other optic nerve atrophies: the mitochondrial connection." Developments in Ophthalmology 37:94-108.
Howell, N. and Gilbert, K. (1988). "Mutational analysis of the mouse mitochondrial cytochrome b gene." Journal of Molecular Biology 203(3):607-618.
Howell, N. and Smejkal, C. B. (2000). "Persistent heteroplasmy of a mutation in the human mtDNA control region: hypermutation as an apparent consequence of simple-repeat expansion/contraction." American Journal of Human Genetics 66(5):1589-1598.
Howell, N., Appel, J., Cook, J. P., Howell, B. and Hauswirth, W. W. (1987). "The molecular basis of inhibitor resistance in a mammalian mitochondrial cytochrome b mutant." Journal of Biological Chemistry 262(5):2411-2414.
Howell, N., Bantel, A. and Huang, P. (1983). "Mammalian mitochondrial mutants selected for resistance to the cytochrome b inhibitors HQNO or myxothiazol." Somatic Cell Genetics 9(6):721-743.
Howell, N., Bindoff, L. A., McCullough, D. A., Kubacka, I., Poulton, J., Mackey, D., Taylor, L. and Turnbull, D. M. (1991). "Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees." American Journal of Human Genetics 49(5):939-950.
Howell, N., Bogolin, C., Jamieson, R., Marenda, D. R. and Mackey, D. A. (1998). "mtDNA mutations that cause optic neuropathy: how do we know?" American Journal of Human Genetics 62(1):196-202.
Howell, N., Elson, J. L., Chinnery, P. F. and Turnbull, D. M. (2005). "mtDNA mutations and common neurodegenerative disorders." Trends in Genetics 21(11):583-586.
Howell, N., Elson, J. L., Howell, C. and Turnbull, D. M. (2007). "Relative rates of evolution in the coding and control regions of African mtDNAs." Molecular Biology and Evolution 24(10):2213-2221.
Howell, N., Elson, J. L., Turnbull, D. M. and Herrnstadt, C. (2004). "African Haplogroup L mtDNA sequences show violations of clock-like evolution." Molecular Biology and Evolution 21(10):1843-1854.
Howell, N., Halvorson, S., Burns, J., McCullough, D. A. and Poulton, J. (1993). "When does bilateral optic atrophy become Leber hereditary optic atrophy? [letter]." American Journal of Human Genetics 53(4):959-963.
Howell, N., Halvorson, S., Kubacka, I., McCullough, D. A., Bindoff, L. A. and Turnbull, D. M. (1992). "Mitochondrial gene segregation in humans: is the bottleneck always narrow?" Human Genetics 90(1-2):117-120.
Howell, N., Herrnstadt, C., Shults, C. and Mackey, D. A. (2003). "Low penetrance of the 14484 LHON mutation when it arises in a non- haplogroup J mtDNA background." American Journal of Medical Genetics 119A(2):147-151.
Howell, N., Huang, P., Kelliher, K. and Ryan, M. L. (1983). "Mitochondrial genetics of mammalian cells: a mouse antimycin-resistant mutant with a probable alteration of cytochrome b." Somatic Cell Genetics 9(2):143-163.
Howell, N., Kubacka, I. and Mackey, D. A. (1996). "How rapidly does the human mitochondrial genome evolve?" American Journal of Human Genetics 59(3):501-509.
Howell, N., Kubacka, I., Halvorson, S. and Mackey, D. (1993). "Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene [letter]." Genetics 133(1):133-136.
Howell, N., Kubacka, I., Halvorson, S., Howell, B., McCullough, D. A. and Mackey, D. (1995). "Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees." Genetics 140(1):285-302.
Howell, N., Kubacka, I., Smith, R., Frerman, F., Parks, J. K. and Parker, W. D., Jr. (1996). "Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease". Neurology 46(1):219-222.
Howell, N., Kubacka, I., Xu, M. and McCullough, D. A. (1991). "Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation." American Journal of Human Genetics 48(5):935-942.
Howell, N., McCullough, D. A., Kubacka, I., Halvorson, S. and Mackey, D. (1992). "The sequence of human mtDNA: the question of errors versus polymorphisms [letter; comment]." American Journal of Human Genetics 50(6):1333-1340.
Howell, N., McCullough, D. and Bodis-Wollner, I. (1992). "Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy [letter]." American Journal of Human Genetics 50(2):443-446.
Howell, N., Miller, N. R., Mackey, D. A., Arnold, A., Herrnstadt, C., Williams, I. M. and Kubacka, I. (2002). "Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations." Journal of Neuro-ophthalmology 22(4):262-269.
Howell, N., Oostra, R. J., Bolhuis, P. A., Spruijt, L., Clarke, L. A., Mackey, D. A., Preston, G. and Herrnstadt, C. (2003). "Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy." American Journal of Human Genetics 72(6):1460-1469.
Howell, N., Smejkal, C. B., Mackey, D. A., Chinnery, P. F., Turnbull, D. M. and Herrnstadt, C. (2003). "The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates." American Journal of Human Genetics 72(3):659-670.
Howell, N., Xu, M., Halvorson, S., Bodis-Wollner, I. and Sherman, J. (1994). "A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation [letter]." American Journal of Human Genetics 55(1):203-206.
Howse, M. L., Wardell, T. M., Fisher, C. J., Tilley, P. J., Chinnery, P. F. and Bindoff, L. (2003). "Late-onset mitochondrial disorder with electromyographic evidence of myotonia." Muscle and Nerve 28(6):757-759.
Howes, T., Madden, C., Dasgupta, S., Saeed, S. and Das, V. (2008). "Role of mitochondrial variation in maternally inherited diabetes and deafness syndrome." The Journal of Laryngology and Otology 122(11):1249-1252.
Howse, M. L., Wardell, T. M., Fisher, C. J., Tilley, P. J., Chinnery, P. F. and Bindoff, L. (2003). "Late-onset mitochondrial disorder with electromyographic evidence of myotonia." Muscle and Nerve 28(6):757-759.
Hrynchak, P. K. and Spafford, M. M. (1994). "Visual recovery in a patient with Leber hereditary optic neuropathy and the 14484 mutation." Optometry and Vision Science 71(10):604-612.
Hsieh, C. and Sutton, H. E. (1992). "Mitochondrial and nuclear variants in a U.S. black population: origins of a hybrid population." Annals of Human Genetics 56(Pt 2):105-112.
Hsieh, R. H., Au, H. K., Yeh, T. S., Chang, S. J., Cheng, Y. F. and Tzeng, C. R. (2004). "Decreased expression of mitochondrial genes in human unfertilized oocytes and arrested embryos." Fertility and Sterility 1(81 Suppl):912-918.
Hsieh, R. H., Hou, J. H., Hsu, H. S. and Wei, Y. H. (1994)."Age-dependent respiratory function decline and DNA deletions in human muscle mitochondria." Biochemistry and Molecular Biology International (Sydney) 32(6):1009-1022.
Hsieh, R. H., Li, J. Y., Pang, C. Y. and Wei, Y. H. (2001). "A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy." Journal of Biomedical Science 8(4):328-335.
Hsieh, R. H., Tsai, N. M., Au, H. K., Chang, S. J., Wei, Y. H. and Tzeng, C. R. (2002). "Multiple rearrangements of mitochondrial DNA in unfertilized human oocytes." Fertility and Sterility 77(5):1012-1017.
Hsieh, Y. T., Yang, M. T., Peng, Y. J. and Hsu, W. C. (2011). "Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation--case report and literature review." Ophthalmic Genetics 32(1):31-38.
Hsouna, S., Ben Halim, N., Lasram, K., Arfa, I., Jamoussi, H., Bahri, S., Ammar, S. B., Miladi, N., Abid, A., Abdelhak, S. and Kefi, R. (2015). "Association study of mitochondrial DNA polymorphisms with type 2 diabetes in Tunisian population." Mitochondrial DNA 26(3):367-372.
Hu, C., Li, X., Zhao, L., Shi, Y., Zhou, S. and Wang, Y. (2020). "Clinical profile and outcome of pediatric mitochondrial myopathy in China." Frontiers in Neurology 11:1000.
Hu, C., Li, X., Zhao, L., Shi, Y., Zhou, S., Wu, B. and Wang, Y. (2020). "Clinical and molecular characterization of pediatric mitochondrial disorders in south of China." European Journal of Medical Genetics 63(8):103898.
Hu, T., Xu, Y., Song, Y., Xia, X. and Zhang, A. M. (2019). "Mitochondrial DNA haplogroup C4 can increase the risk of active tuberculosis disease in Southwest China." The International Journal of Tuberculosis and Lung Disease 23(6):692-697.
Huang, C. C., Chen, R. S., Chen, C. M., Wang, H. S., Lee, C. C., Pang, C. Y., Hsu, H. S., Lee, H. C. and Wei, Y. H. (1994)."MELAS syndrome with mitochondrial tRNALeu(UUR) gene mutation in a Chinese family." Journal of Neurology, Neurosurgery and Psychiatry 57(5):586-589.
Huang, C. C., Kuo, H. C., Chu, C. C., Liou, C. W., Ma, Y. S. and Wei, Y. H. (2002). "Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies." Journal of Biomedical Science 9(6 Pt 1):527-533.
Huang, C. C., Kuo, H. C., Chu, C. C. and Kao, L. Y. (2002). "Rapid visual recovery after coenzyme Q10 treatment of Leber hereditary optic neuropathy." Journal of Neuro-Ophthalmology 22(1):66.
Huang, C. N., Jee, S. H., Hwang, J. J., Kuo, Y. F. and Chuang, L. M. (1998)."Autoimmune IDDM in a sporadic MELAS patient with mitochondrial tRNA(Leu(UUR)) mutation." Clinical Endocrinology 49(2):265-270.
Huang, D. Y., Goedert, M., Jakes, R., Weisgraber, K. H., Garner, C. C., Saunders, A. M., Pericak-Vance, M. A., Schmechel, D. E., Roses, A. D. and Strittmatter, W. J. (1994). "Isoform-specific interactions of apolipoprotein E with the microtubule-associated protein MAP2c: implications for Alzheimer's disease." Neuroscience Letters 182(1):55-58.
Huang, Y. H., Chen, C. M., Lee, Y. S., Chang, K. H., Chen, H. W. and Chen, Y. C. (2018). "Detection of mitochondrial DNA with 4977 bp deletion in leukocytes of patients with ischemic stroke." PLoS ONE 13(2):e0193175.
Hudjashov, G., Kivisild, T., Underhill, P. A., Endicott, P., Sanchez, J. J., Lin, A. A., Shen, P., Oefner, P., Renfrew, C., Villems, R. and Forster, P. (2007). "Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis." Proceedings of the National Academy of Sciences of the United States of America 104(21):8726-8730.
Hudson, G., Amati-Bonneau, P., Blakely, E. L., Stewart, J. D., He, L., Schaefer, A. M., Griffiths, P. G., Ahlqvist, K., Suomalainen, A., Reynier, P., McFarland, R., Turnbull, D. M., Chinnery, P. F. and Taylor, R. W. (2008). "Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance." Brain 131(Pt 2):329-337.
Hudson, G., Carelli, V., Spruijt, L., Gerards, M., Mowbray, C., et al. (2007). "Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background." American Journal of Human Genetics 81(2):228-233.
Hudson, G., Deschauer, M., Taylor, R. W., Hanna, M. G., Fialho, D., Schaefer, A. M., He, L. P., Blakely, E., Turnbull, D. M. and Chinnery, P. F. (2006). "POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions." Neurology 66(9):1439-1441.
Hudson, G., Gomez-Duran, A., Wilson, I. J. and Chinnery, P. F. (2014). "Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases." PLoS Genetics 10(5):e1004369.
Hudson, G., Keers, S., Yu Wai Man, P., Griffiths, P., Huoponen, K., Savontaus, M. L., Nikoskelainen, E., Zeviani, M., Carrara, F., Horvath, R., Karcagi, V., Spruijt, L., de Coo, I. F., Smeets, H. J. and Chinnery, P. F. (2005). "Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder." American Journal of Human Genetics 77(6):1086-1091.
Hudson, G., Mowbray, C., Elson, J. L., Jacob, A., Boggild, M., Torroni, A. and Chinnery, P. F. (2008). "Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?" Brain 131(Pt 4):e93.
Hudson, G., Nalls, M., Evans, J. R., Breen, D. P., Winder-Rhodes, S., Morrison, K. E., Morris, H. R., Williams-Gray, C. H., Barker, R. A., Singleton, A. B., Hardy, J., Wood, N. E., Burn, D. J. and Chinnery, P. F. (2013). "Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease." Neurology 80(22):2042-2048.
Hudson, G., Schaefer, A. M., Taylor, R. W., Tiangyou, W., Gibson, A., Venables, G., Griffiths, P., Burn, D. J., Turnbull, D. M. and Chinnery, P. F. (2007). "Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism." Archives of Neurology 64(4):553-557.
Hudson, G., Takeda, Y. and Herbert, M. (2019). "Reversion after replacement of mitochondrial DNA [Comment on Kang et al. 2016. doi.org/10.1038/nature20592] [Reply by Kang et al. 2019. doi.org:/10.1038/s41586-019-1624-2]." Nature 574(7778):E8-E11.
Hudson, G., Yu-Wai-Man, P., Griffiths, P. G., Horvath, R., Carelli, V., Zeviani, M. and Chinnery, P. F. (2011). "Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON". Mitochondrion 11(4):620-622.
Huerta-Sanchez, E., Jin, X., Asan, Bianba, Z., Peter, B. M., et al. (2014). "Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA." Nature 512(7513):194-197.
Huerta, C., Castro, M. G., Coto, E., Blazquez, M., Ribacoba, R., Guisasola, L. M., Salvador, C., Martinez, C., Lahoz, C. H. and Alvarez, V. (2005). "Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population." Journal of the Neurological Sciences 236(1-2):49-54.
Huerta, C., Sanchez-Ferrero, E., Coto, E., Blazquez, M., Ribacoba, R., Guisasola, L. M., Salvador, C. and Alvarez, V. (2007). "No association between Parkinson's disease and three polymorphisms in the eNOS, nNOS, and iNOS genes". Neuroscience Letters 413(3):202-205.
Hughes, S. M. and Blau, H. M. (1990). "Migration of myoblasts across basal lamina during skeletal muscle development." Nature 345(6273):350-353.
Hughey, J. R., Paschou, P., Drineas, P., Mastropaolo, D., Lotakis, D. M., Navas, P. A., Michalodimitrakis, M., Stamatoyannopoulos, J. A. and Stamatoyannopoulos, G. (2013). "A European population in Minoan Bronze Age Crete". Nature Communications 4:1861.
Hulgan, T., Haas, D. W., Haines, J. L., Ritchie, M. D., Robbins, G. K., Shafer, R. W., Clifford, D. B., Kallianpur, A. R., Summar, M. and Canter, J. A. (2005). "Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study." Aids 19(13):1341-1349.
Human, H., Hagen, C. M., de Jong, G., Harris, T., Lombard, D., Christiansen, M. and Bardien, S. (2010). "Investigation of mitochondrial sequence variants associated with aminoglycoside-induced ototoxicity in South African TB patients on aminoglycosides". Biochemical and Biophysical Research Communications 393(4):751-756.
Hung, H. L., Kao, L. Y. and Huang, C. C. (2003). "Clinical features of Leber's hereditary optic neuropathy with the 11778 mitochondrial DNA mutation in Taiwanese patients." Chang Gung Medical Journal 26(1):41-47.
Hung, W. Y., Wu, C. W., Yin, P. H., Chang, C. J., Li, A. F., Chi, C. W., Wei, Y. H. and Lee, H. C. (2010). "Somatic mutations in mitochondrial genome and their potential roles in the progression of human gastric cancer." Biochimica et Biophysica Acta 1800(3):264-270.
Hunley, K. and Long, J. C. (2005). "Gene flow across linguistic boundaries in Native North American populations." Proceedings of the National Academy of Sciences of the United States of America 102(5):1312-1317.
Huntington's Disease Collaborative Research Group, The (1993). "A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes." Cell 72(6):971-983.
Huoponen, K. (2001). "Leber hereditary optic neuropathy: clinical and molecular genetic findings." Neurogenetics 3(3):119-125.
Huoponen, K., Juvonen, V., Iitia, A., Dahlen, P., Siitari, H., Aula, P., Nikoskelainen, E. and Savontaus, M. L. (1994). "Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy." Human Mutation 3(1):29-36.
Huoponen, K., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E. and Savontaus, J. L. (1993). "The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy." Human Genetics 92(4):379-384.
Huoponen, K., Puomila, A., Savontaus, M. L., Mustonen, E., Kronqvist, E. and Nikoskelainen, E. (2002). "Genetic counseling in Leber hereditary optic neuropathy (LHON)." Acta Ophthalmologica Scandinavica 80(1):38-43.
Huoponen, K., Schurr, T. G., Chen, Y. and Wallace, D. C. (2001). "Mitochondrial DNA variation in an aboriginal Australian population: evidence for genetic isolation and regional differentiation." Human Immunology 62(9):954-969.
Huoponen, K., Torroni, A., Wickman, P. R., Sellitto, D., Gurley, D. S., Scozzari, R. and Wallace, D. C. (1997). "Mitochondrial DNA and Y chromosome-specific polymorphisms in the Seminole tribe of Florida." European Journal of Human Genetics 5(1):25-34.
Huoponen, K., Vilkki, J., Aula, P., Nikoskelainen, E. K. and Savontaus, M. L. (1991). "A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy." American Journal of Human Genetics 48(6):1147-1153.
Huoponen, K., Vilkki, J., Savontaus, M. L., Aula, P. and Nikoskelainen, E. K. (1990). "Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy." Genomics 8(3):583-585.
Hurles, M. E., Irven, C., Nicholson, J., Taylor, P. G., Santos, F. R., Loughlin, J., Jobling, M. A. and Sykes, B. C. (1998). "European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA." American Journal of Human Genetics 63(6):1793-1806.
Hurles, M. E., Sykes, B. C., Jobling, M. A. and Forster, P. (2005). "The dual origin of the Malagasy in island Southeast Asia and East Africa: evidence from maternal and paternal lineages." American Journal of Human Genetics 76(5):894-901.
Hurvitz, H., Naveh, Y., Shoseyov, D., Klar, A., Shaag, A. and Elpeleg, O. (2002). "Transmission of the mitochondrial t8993c mutation in a new family." American Journal of Medical Genetics 111(4):446-447.
Husain, K. and Somani, S. M. (1997). "Response of cardiac antioxidant system to alcohol and exercise training in the rat." Alcohol 14(3):301-307.
Hutchin, T. and Cortopassi, G. (1995). "A mitochondrial DNA clone is associated with increased risk for Alzheimer disease." Proceedings of the National Academy of Sciences of the United States of America 92(15):6892-6895.
Hutchin, T. P. and Cortopassi, G. A. (1997). "Multiple origins of a mitochondrial mutation conferring deafness." Genetics 145(3):771-776.
Hutchin, T. P. and Cortopassi, G. A. (2000). "Mitochondrial defects and hearing loss." Cellular and Molecular Life Sciences 57(13-14):1927-1937.
Hutchin, T. P., Heath, P. R., Pearson, R. C. and Sinclair, A. J. (1997). "Mitochondrial DNA mutations in Alzheimer's disease." Biochemical & Biophysical Research Communications 241(2):221-225.
Hutchin, T. P., Lench, N. J., Arbuzova, S., Markham, A. F. and Mueller, R. F. (2001). "Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation." European Journal of Human Genetics 9(1):56-58.
Hutchin, T., Haworth, I., Higashi, K., Fischel-Ghodsian, N., Stoneking, M., Saha, N., Arnos, C. and Cortopassi, G. (1993). "A molecular basis for human hypersensitivity to aminoglycoside antibiotics." Nucleic Acids Research 21(18):4174-4179.
Hutchin, T.P., Navarro-Coy, N.C., Van Camp, G., Tiranti, V., Zeviani, M., Schuelke, M., Jaksch, M., Newton, V. and Mueller, R.F. (2001). "Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction." European Journal of Human Genetics 9(5):385-387.
Hutchison, C. A., 3rd, Newbold, J. E., Potter, S. S. and Edgell, M. H. (1974). "Maternal inheritance of mammalian mitochondrial DNA." Nature 251(5475):536-538.
Hutter, E., Unterluggauer, H., Garedew, A., Jansen-Durr, P. and Gnaiger, E. (2006). "High-resolution respirometry-a modern tool in aging research." Experimental Gerontology 41(1):103-109.
Hutter, G., Nickenig, C., Garritsen, H., Hellenkamp, F., Hoerning, A., Hiddemann, W. and Dreyling, M. (2004). "Use of polymorphisms in the noncoding region of the human mitochondrial genome to identify potential contamination of human leukemia-lymphoma cell lines." The Hematology Journal 5(1):61-68.
Hwang, I. W., Hong, J. H., Kwon, B. N., Kim, H. J., Lee, N. R., Lim, M. H., Kwon, H. J. and Jin, H. J. (2017). "Association of mitochondrial DNA 10398 A/G polymorphism with attention deficit and hyperactivity disorder in Korean children." Gene 630:8-12.
Hwang, J. M., Kim, J. and Park, S. S. (2003). "Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy." Journal of Neurology 250(1):87-89.
Hyslop, S. J., Duncan, A. M., Pitkanen, S. and Robinson, B. H. (1996). "Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13." Genomics 37(3):375-380.
Hyslop, S. J., James, A. M., Maw, M., Fischel-Ghodsian, N. and Murphy, M. P. (1997). "The effect on mitochondrial function of the tRNA Ser(UCN)/COI A7445G mtDNA point mutation associated with maternally-inherited sensorineural deafness." Biochemistry & Molecular Biology International 42(3):567-575.
Hyvarinen, A. K., Pohjoismaki, J. L., Reyes, A., Wanrooij, S., Yasukawa, T., Karhunen, P. J., Spelbrink, J. N., Holt, I. J. and Jacobs, H. T. (2007). "The mitochondrial transcription termination factor mTERF modulates replication pausing in human mitochondrial DNA." Nucleic Acids Research 35(19):6458-6474.
Iacobazzi, V., Lauria, G. and Palmieri, F. (1997). "Organization and sequence of the human gene for the mitochondrial citrate transport protein." DNA Sequence 7(3-4):127-139.
Ichikawa, K., Tsuyusaki, Y., Shimbo, H. and Goto, T. (2019). "Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene." Pediatrics International 61(10):1055-1056.
Ichikawa, K., Yamabe, Y., Imamura, O., Kuromitsu, J., Sugawara, K., Suzuki, N., Shimamoto, A., Matsumoto, T., Tokutake, Y., Kitao, S., Kataoka, H., Satoh, M., Sugimoto, M., Goto, M., Sugawara, M. and Furuichi, Y. (1997). "Cloning and characterization of a novel gene, WS-3, in human chromosome 8p11-p12." Gene 189(2):277-287.
Igumnova, V., Veidemane, L., Viksna, A., Capligina, V., Zole, E. and Ranka, R. (2019). "The prevalence of mitochondrial mutations associated with aminoglycoside-induced deafness in ethnic Latvian population: the appraisal of the evidence." Journal of Human Genetics 64(3):199-206.
Iida, Y. and Fujii, K. (2016). "Significance of rostral brain lesions of Leigh syndrome associated with the mitochondrial DNA 8993T > G mutation." Journal of the Neurological Sciences 366:248.
Iida, Y., Fujii, K., Mizuochi, H., Suwabe, S., Wakui, A., Uchikawa, H. and Shimojo, N. (2016). "Rostral brain lesions of Leigh syndrome associated with the mitochondrial DNA 8993T>G mutation." Journal of the Neurological Sciences 363:77-79.
Iizuka, T., Goto, Y., Miyakawa, S., Sato, M., Wang, Z., Suzuki, K., Hamada, J., Kurata, A. and Sakai, F. (2009). "Progressive carotid artery stenosis with a novel tRNA phenylalanine mitochondrial DNA mutation." Journal of the Neurological Sciences 278(1-2):35-40.
Ikebe, S., Tanaka, M. and Ozawa, T. (1995). "Point mutations of mitochondrial genome in Parkinson's disease." Brain Research. Molecular Brain Research 28(2):281-295.
Ikebe, S., Tanaka, M., Ohno, K., Sato, W., Hattori, K., Kondo, T., Mizuno, Y. and Ozawa, T. (1990). "Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence." Biochemical and Biophysical Research Communications 170(3):1044-1048.
Ikeda, S., Sumiyoshi, H. and Oda, T. (1994). "DNA binding properties of recombinant human mitochondrial transcription factor 1." Cellular and Molecular Biology 40(4):489-493.
Ikeda, T., Osaka, H., Shimbo, H., Tajika, M., Yamazaki, M., Ueda, A., Murayama, K. and Yamagata, T. (2018). "Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome." Human Genome Variation 5:25.
Imai-Okazaki, A., Kishita, Y., Kohda, M., Mizuno, Y., Fushimi, T., Matsunaga, A., Yatsuka, Y., Hirata, T., Harashima, H., Takeda, A., Nakaya, A., Sakata, Y., Kogaki, S., Ohtake, A., Murayama, K. and Okazaki, Y. (2019). "Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background." International Journal of Cardiology 279:115-121.
Imai-Okazaki, A., Matsunaga, A., Yatsuka, Y., Nitta, K. R., Kishita, Y., et al. (2021). "Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients." International Journal of Cardiology S0167-5273(21):01080-01089.
Imai-Okazaki, A., Nitta, K. R., Yatsuka, Y., Sugiura, A., Arao, M., Shimura, M., Ebihara, T., Onuki, T., Ichimoto, K., Ohtake, A., Murayama, K. and Okazaki, Y. (2022). "Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease." Journal of Inherited Metabolic Disease ePub ahead of print, https://doi.org/10.1002/jimd.12547
Imai, A., Fujita, S., Kishita, Y., Kohda, M., Tokuzawa, Y., Hirata, T., Mizuno, Y., Harashima, H., Nakaya, A., Sakata, Y., Takeda, A., Mori, M., Murayama, K., Ohtake, A. and Okazaki, Y. (2016). "Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein." International Journal of Cardiology 207:203-205.
Imai, A., Kishita, Y., Nakayama, Y., Fujita, S., Futatani, T., Kohda, M., Yatsuka, Y., Nakaya, A., Sakata, Y., Murayama, K., Ohtake, A. and Okazaki, Y. (2016). "Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy." International Journal of Cardiology 221:446-449.
Imai, Y. and Moriwaki, D. (1936). "A probable case of cytoplasmic inheritance in man: a critique of Leber's disease." Journal of Genetics 33:163-167.
Imasawa, T., Tanaka, M., Yamaguchi, Y., Nakazato, T., Kitamura, H. and Nishimura, M. (2014). "7501 T > A mitochondrial DNA variant in a patient with glomerulosclerosis." Renal Failure 36(9):1461-1465.
Inagaki, T., Ishino, H., Seno, H., Ohguni, S., Tanaka, J. and Kato, Y. (1997). "Psychiatric symptoms in a patient with diabetes mellitus associated with point mutation in mitochondrial DNA." Biological Psychiatry 42(11):1067-1069.
Ingman, M. and Gyllensten, U. (2001). "Analysis of the complete human mtDNA genome: methodology and inferences for human evolution". The Journal of Heredity 92(6):454-461.
Ingman, M. and Gyllensten, U. (2003). "Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines." Genome Research 13(7):1600-1606.
Ingman, M. and Gyllensten, U. (2006). "mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences." Nucleic Acids Research 34(Database issue):D749-751.
Ingman, M. and Gyllensten, U. (2007). "A recent genetic link between Sami and the Volga-Ural region of Russia." European Journal of Human Genetics 15(1):115-120.
Ingman, M. and Gyllensten, U. (2007). "Rate variation between mitochondrial domains and adaptive evolution in humans." Human Molecular Genetics 16(19):2281-2287.
Ingman, M., Kaessmann, H., Paabo, S. and Gyllensten, U. (2000). "Mitochondrial genome variation and the origin of modern humans." Nature 408(6813):708-713.
Ingram, C. J., Weale, M. E., Plaster, C. A., Morrison, K. E., Goodall, E. F., Pall, H. S., Beck, M., Jablonka, S., Sendtner, M., Fisher, E. M., Bradman, N. and Kasperaviciute, D. (2012). "Analysis of European case-control studies suggests that common inherited variation in mitochondrial DNA is not involved in susceptibility to amyotrophic lateral sclerosis". Amyotrophic Lateral Sclerosis 13(4):341-346.
Innan, H. and Nordborg, M. (2002). "Recombination or mutational hot spots in human mtDNA?" Molecular Biology and Evolution 19(7):1122-1127.
Ino, H., Tanaka, M., Ohno, K., Hattori, K., Ikebe, S., Sano, T., Ozawa, T., Ichiki, T., Kobayashi, M. and Wada, Y. (1990). "Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy [letter; comment]." Lancet 337(8735):234-235.
Inohara, N., Ding, L., Chen, S. and Nunez, G. (1997). "Harakiri, a novel regulator of cell death, encodes a protein that activates apoptosis and interacts selectively with survival-promoting proteins Bcl-2 and Bcl-X(L)." EMBO Journal 16(7):1686-1694.
Inoue, K., Ito, S., Takai, D., Soejima, A., Shisa, H., LePecq, J. B., Segal-Bendirdjian, E., Kagawa, Y. and Hayashi, J. I. (1997). "Isolation of mitochondrial DNA-less mouse cell lines and their application for trapping mouse synaptosomal mitochondrial DNA with deletion mutations." Journal of Biological Chemistry 272(24):15510-15515.
Inoue, K., Nakada, K., Ogura, A., Isobe, K., Goto, Y., Nonaka, I. and Hayashi, J.-I. (2000). "Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes." Nature Genetics 26(2):176-181.
Inoue, K., Takai, D., Soejima, A., Isobe, K., Yamasoba, T., Oka, Y., Goto, Y. and Hayashi, J. (1996). "Mutant mtDNA at 1555 A to G in 12S rRNA gene and hypersusceptibility of mitochondrial translation to streptomycin can be co-transferred to rho0 HeLa cells." Biochemical and Biophysical Research Communications 223(3):496-501.
Inui, K., Fukushima, H., Tsukamoto, H., Taniike, M., Midorikawa, M., Tanaka, J., Nishigaki, T. and Okada, S. (1992). "Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNALeu(UUR) gene." Journal of Pediatrics 120(1):62-66.
Inui, K., Tsukamoto, H., Fukushima, H., Taniike, M., Tanaka, J., Nishigaki, T. and Okada, S. (1992). "Detection of the A to G (3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalmyopathies." Journal of Inherited Metabolic Disease 15(3):311-314.
Ionasescu, V. V., Hart, M., DiMauro, S. and Moraes, C. T. (1994). "Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNAPro gene." Neurology 44(5):975-977.
Irwin, J. A., Parson, W., Coble, M. D. and Just, R. S. (2011). "mtGenome reference population databases and the future of forensic mtDNA analysis." Forensic Science International. Genetics 5(3):222-225.
Isaacs, C., Cavalli, L. R., Cohen, Y., Pennanen, M., Shankar, L. K., Freedman, M., Singh, B., Liu, M., Gallagher, A., Rone, J. D., Dickson, R. B., Sidransky, D. and Haddad, B. R. (2004). "Detection of LOH and mitochondrial DNA alterations in ductal lavage and nipple aspirate fluids from high-risk patients." Breast Cancer Research and Treatment 84(2):99-105.
Isaka, F., Ishibashi, M., Taki, W., Hashimoto, N., Nakanishi, S. and Kageyama, R. (1999). "Ectopic expression of the bHLH gene Math1 disturbs neural development." European Journal of Neuroscience 11(7):2582-2588.
Isashiki, Y. and Nakagawa, M. (1991). "Clinical correlation of mitochondrial DNA heteroplasmy and Leber's hereditary optic neuropathy." Japanese Journal of Ophthalmology 35(3):259-267.
Isashiki, Y., Nakagawa, M., Ohba, N., Kamimura, K., Sakoda, Y., Higuchi, I., Izumo, S. and Osame, M. (1998). "Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation." Acta Ophthalmologica Scandinavica 76(1):6-13.
Isashiki, Y., Ohba, N., Uto, M. and Nakagawa, M. (1993). "Sequence homology of NADH CoQ reductase subunit IV with nucleotide-requiring enzymes." Japanese Journal of Ophthalmology 37(1):39-42.
Isashiki, Y., Sonoda, S., Izumo, S., Sakamoto, T., Tachikui, H. and Inoue, I. (2003). "Phylogenetic assessment of the mitochondrial DNA displacement loop haplotype in Japanese patients with Leber's hereditary optic neuropathy harboring the mitochondrial DNA G11778A mutation". Ophthalmic Research 35(4):224-231.
Isashiki, Y., Tabata, Y., Kamimura, K. and Ohba, N. (1997). "Genotypes of aldehyde dehydrogenase and alcohol dehydrogenase polymorphisms in patients with Leber's hereditary optic neuropathy." Japanese Journal of Human Genetics 42(1):187-191.
Ishibashi, Y., Sugimoto, T., Ichikawa, Y., Akatsuka, A., Miyata, T., Nangaku, M., Tagawa, H. and Kurokawa, K. (2002). "Glucose dialysate induces mitochondrial DNA damage in peritoneal mesothelial cells." Peritoneal Dialysis International 22(1):11-21.
Ishikawa, H., Masuda, Y., Ishikawa, H., Shikisima, K., Goseki, T., Kezuka, T., Terao, M., Miyazaki, A., Matsumoto, K., Nishikawa, H., Gomi, F. and Mimura, O. (2021). "Characteristics of Japanese patients with Leber's hereditary optic neuropathy and idebenone trial: a prospective, interventional, non-comparative study." Japanese Journal of Ophthalmology 65(1):133-142.
Ishikawa, K., Funayama, T., Ohde, H., Inagaki, Y. and Mashima, Y. (2005). "Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset." Japanese Journal of Ophthalmology 49(2):121-126.
Ishikawa, K., Takenaga, K., Akimoto, M., Koshikawa, N., Yamaguchi, A., Imanishi, H., Nakada, K., Honma, Y. and Hayashi, J. (2008). "ROS-generating mitochondrial DNA mutations can regulate tumor cell metastasis." Science 320(5876):661-664.
Ishikawa, K., Tamagawa, Y., Takahashi, K., Kimura, H., Kusakari, J., Hara, A. and Ichimura, K. (2002). "Nonsyndromic hearing loss caused by a mitochondrial T7511C mutation." Laryngoscope 112(8 Pt 1):1494-1499.
Ishida, K., Morino, T., Takagi, K. and Sukenaga, Y. (1987). "Nucleotide sequence of a human gene for glutathione peroxidase." Nucleic Acids Research 15(23):10051.
Ishii, N., Fujii, M., Hartman, P. S., Tsuda, M., Yasuda, K., Senoo-Matsuda, N., Yanase, S., Ayusawa, D. and Suzuki, K. (1998). "A mutation in succinate dehydrogenase cytochrome b causes oxidative stress and ageing in nematodes [see comments]." Nature 394(6694):694-697.
Ishikawa, S., Ichibe, Y., Yokoe, J. and Wakakura, M. (1995). "Leber's hereditary optic neuropathy among Japanese." Muscle and Nerve 3(9):S85-S89.
Islam, M. M., Tanaka, M., Suzuki, H., Torii, K., Hattori, N. and Ozawa, T. (1994). "A complete cDNA sequence for core I protein subunit of human ubiquinol- cytochrome c reductase [published errata appear in Biochem Mol Biol Int 1994 May;33(2):410 and 1994 Jul;33(4):815]." Biochemistry and Molecular Biology International (Sydney) 32(5):797-805.
Isobe, K., Ito, S., Hosaka, H., Iwamura, Y., Kondo, H., Kagawa, Y. and Hayashi, J. I. (1998). "Nuclear-recessive mutations of factors involved in mitochondrial translation are responsible for age-related respiration deficiency of human skin fibroblasts." Journal of Biological Chemistry 273(8):4601-4606.
Isobe, K., Kishino, S., Inoue, K., Takai, D., Hirawake, H., Kita, K., Miyabayashi, S. and Hayashi, J. I. (1997). "Identification of inheritance modes of mitochondrial diseases by introduction of pure nuclei from mtDNA-less HeLa cells to patient-derived fibroblasts." Journal of Biological Chemistry 272(19):12606-12610.
Isohanni, P., Carroll, C. J., Jackson, C. B., Pohjanpelto, M., Lonnqvist, T. and Suomalainen, A. (2018). "Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth." Neurogenetics 19(1):49-53.
Isotani, H., Kameoka, K., Nagano, Y., Kitaoka, H. and Ohsawa, N. (1999). "Characteristic neuroimaging findings in patients with diabetes and the 8296 mitochondrial tRNA(Lys)." Diabetologia 42(10):1266-1267.
Issartel, J. P., Dupuis, A., Garin, J., Lunardi, J., Michel, L. and Vignais, P. V. (1992). "The ATP synthase (F0-F1) complex in oxidative phosphorylation." Experientia 48(4):351-362.
Itkis, Y., Krylova, T., Pechatnikova, N. L., De Grassi, A., Tabakov, V. Y., Pierri, C. L., Aleshin, V., Boyko, A., Bunik, V. I. and Zakharova, E. Y. (2019). "A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent." Mitochondrion 47:10-17.
Ito, M., Tran Le, S., Chaudhari, D., Higashimoto, T., Maslim, A. and Boles, R. G. (2001). "Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease." Mitochondrion 1(3):269-278.
Ito, S., Inoue, K., Yanagisawa, N., Kaneko, M. and Hayashi, J. (1998). "Long-term postmortem survival of mitochondrial genomes in mouse synaptosomes and their rescue in a mitochondrial DNA-less mouse cell line." Biochemical & Biophysical Research Communications 247(2):432-435.
Ito, S., Ohta, S., Nishimaki, K., Kagawa, Y., Soma, R., Kuno, S., Komatsuzaki, Y., Mizusawa, H. and Hayashi, J. I. (1999). "Functional integrity of mitochondrial genomes in human platelets and autopsied brain tissues from elderly patients with Alzheimer's disease." Proceedings of the National Academy of Sciences of the United States of America 96(5):2099-2103.
Ito, S., Shirai, W., Asahina, M. and Hattori, T. (2008). "Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation." AJNR American Journal of Neuroradiology 29(2):392-395.
Ito, T., Hattori, K., Obayashi, T., Tanaka, M., Sugiyama, S. and Ozawa, T. (1992). "Mitochondrial DNA mutations in cardiomyopathy." Japanese Circulation Journal 56(10):1045-1053.
Itoh, G., Tamura, J., Suzuki, M., Suzuki, Y., Ikeda, H., Koike, M., Nomura, M., Jie, T. and Ito, K. (1995). "DNA fragmentation of human infarcted myocardial cells demonstrated by the nick end labeling method and DNA agarose gel electrophoresis." The American Journal of Pathology 146(6):1325-1331.
Itoh, H., Takahashi, A., Adachi, K., Noji, H., Yasuda, R., Yoshida, M. and Kinosita, K. (2004). "Mechanically driven ATP synthesis by F1-ATPase." Nature 427(6973):465-468.
Ivanov, P. L., Wadhams, M. J., Roby, R. K., Holland, M. M., Weedn, V. W. and Parsons, T. J. (1996). "Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II." Nature Genetics 12(4):417-420.
Ivanova, R., Astrinidis, A., Lepage, V., Kouvatsi, A., Djoulah, S., Hors, J. and Charron, D. (1999). "Mitochondrial DNA polymorphism in the French population." Biomedicine & Pharmacotherapy 53(4):207-212.
Ivanova, R., Lepage, V., Charron, D. and Schachter, F. (1998). "Mitochondrial genotype associated with French Caucasian centenarians." Gerontology 44(6):349.
Ivanova, R., Lepage, V., Loste, M. N., Schachter, F., Wijnen, E., Busson, M., Cayuela, J. M., Sigaux, F. and Charron, D. (1998). "Mitochondrial DNA sequence variation in human leukemic cells." International Journal of Cancer 76(4):495-498.
Iwai, K., Miyao, M., Wadano, Y. and Iwamura, Y. (2003). "Dynamic changes of deleted mitochondrial DNA in human leucocytes after endurance exercise." European Journal of Applied Physiology 88(6):515-519.
Iwanaga, R., Koga, Y., Aramaki, S., Kato, S. and Kato, H. (2001). "Inter- and/or intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy." Acta Neuropathologica (Berlin) 101(2):179-184.
Iwata, S., Lee, J. W., Okada, K., Lee, J. K., Iwata, M., Rasmussen, B., Link, T. A., Ramaswamy, S. and Jap, B. K. (1998). "Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex [see comments]." Science 281(5373):64-71.
Iyer, V. R., Eisen, M. B., Ross, D. T., Schuler, G., Moore, T., Lee, J. C. F., Trent, J. M., Staudt, L. M., Hudson, J., Jr., Boguski, M. S., Lashkari, D., Shalon, D., Botstein, D. and Brown, P. O. (1999). "The transcriptional program in the response of human fibroblasts to serum [see comments]." Science 283(5398):83-87.
Izagirre, N. and de la Rua, C. (1999). "An mtDNA analysis in ancient Basque populations: implications for haplogroup V as a marker for a major paleolithic expansion from southwestern europe." American Journal of Human Genetics 65(1):199-207.
Jaatinen, P. I., Saukko, P., Sarviharju, M., Kiianmaa, K. and Hervonen, A. (1994). "Effects of lifelong ethanol consumption on the ultrastructure and lipopigmentation of rat heart." Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism 29(3):269-282.
Jaatinen, P., Saukko, P. and Hervonen, A. (1993). "Chronic ethanol exposure increases lipopigment accumulation in human heart." Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism 28(5):559-569.
Jaber, L., Shohat, M., Bu, X., Fischel-Ghodsian, N., Yang, H. Y., Wang, S. J. and Rotter, J. I. (1992). "Sensorineural deafness inherited as a tissue specific mitochondrial disorder." Journal of Medical Genetics 29(2):86-90.
Jabs, E. W., Thomas, P. J., Bernstein, M., Coss, C., Ferreira, G. C. and Pedersen, P. L. (1994). "Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier." Human Genetics 93(5):600-602.
Jackson, C. B., Hahn, D., Schroter, B., Richter, U., Battersby, B. J., Schmitt-Mechelke, T., Marttinen, P., Nuoffer, J. M. and Schaller, A. (2017). "A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy." European Journal of Medical Genetics 60(6):345-351.
Jackson, M. J., Bindoff, L. A., Weber, K., Wilson, J. N., Ince, P., Alberti, K. G. and Turnbull, D. M. (1994). "Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness." Diabetes Care 17(7):728-733.
Jackson, M. J., Schaefer, J. A., Johnson, M. A., Morris, A. A., Turnbull, D. M. and Bindoff, L. A. (1995). "Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients." Brain 118 ( Pt 2):339-357.
Jacobi, J. E., Leavitt, J. A. and Chen, J. J. (2018). "A middle-aged woman with vision loss and vecocentral scotoma." JAMA Ophthalmology 136(9):1070-1071.
Jacobs, H. T. (1997). "Mitochondrial deafness." Annals of Medicine 29(6):483-491.
Jacobs, H. T. (2003). "Disorders of mitochondrial protein synthesis." Human Molecular Genetics 12(Spec No 2):R293-R301.
Jacobs, H. T. (2003). "Rebuttal to Pak et al.: new data, chestnuts." Aging Cell 2(1):19-20.
Jacobs, H. T. and Holt, I. J. (2000). "The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't." Human Molecular Genetics 9(4):463-465.
Jacobs, H. T., Hutchin, T. P., Kappi, T., Gillies, G., Minkkinen, K., Walker, J., Thompson, K., Rovio, A. T., Carella, M., Melchionda, S., Zelante, L., Gasparini, P., Pyykko, I., Shah, Z. H., Zeviani, M. and Mueller, R. F. (2005). "Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment." European Journal of Human Genetics 13(1):26-33.
Jacobs, H. T., Lehtinen, S. K. and Spelbrink, J. N. (2000). "No sex please, we're mitochondria: a hypothesis on the somatic unit of inheritance of mammalian mtDNA." Bioessays 22(6):564-572.
Jacobs, H. T., Lehtinen, S. K. and Spelbrink, J. N. (2000). "No sex please, we're mitochondria: a hypothesis on the somatic unit of inheritance of mammalian mtDNA." Bioessays 22(6):564-572.
Jacobsson, A., Stadler, U., Glotzer, M. A. and Kozak, L. P. (1985). "Mitochondrial uncoupling protein from mouse brown fat. Molecular cloning, genetic mapping, and mRNA expression." Journal of Biological Chemistry 260(30):16250-16254.
Jacotot, E., Ravagnan, L., Loeffler, M., Ferri, K. F., Vieira, H. L., Zamzami, N., Costantini, P., Druillennec, S., Hoebeke, J., Briand, J. P., Irinopoulou, T., Daugas, E., Susin, S. A., Cointe, D., Xie, Z. H., Reed, J. C., Roques, B. P. and Kroemer, G. (2000). "The HIV-1 viral protein R induces apoptosis via a direct effect on the mitochondrial permeability transition pore." Journal of Experimental Medicine 191(1):33-46.
Jagust, W. J., Seab, J. P., Huesman, R. H., Valk, P. E., Mathis, C. A., Reed, B. R., Coxson, P. G. and Budinger, T. F. (1991). "Diminished glucose transport in Alzheimer's disease: dynamic PET studies." Journal of Cerebral Blood Flow and Metabolism 11(2):323-330.
Jahani, M. M., Azimi Meibody, A., Karimi, T., Banoei, M. M. and Houshmand, M. (2019). "An A10398G mitochondrial DNA alteration is related to increased risk of breast cancer, and associates with Her2 positive receptor." Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis:1-6.
Jaksch, M., Gerbitz, K. D. and Kilger, C. (1995). "Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis." Clinical Biochemistry 28(5):503-509.
Jaksch, M., Hofmann, S., Kaufhold, P., Obermaier-Kusser, B., Zierz, S. and Gerbitz, K. D. (1996). "A novel combination of mitochondrial tRNA and ND1 gen mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus." Human Mutation 7(4):358-360.
Jaksch, M., Hofmann, S., Kleinle, S., Liechti-Gallati, S., Pongratz, D. E., Muller-Hocker, J., Jedele, K. B., Meitinger, T. and Gerbitz, K. D. (1998). "A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy." Journal of Medical Genetics 35(11):895-900.
Jaksch, M., Klopstock, T., Kurlemann, G., Dorner, M., Hofmann, S., Kleinle, S., Hegemann, S., Weissert, M., Muller-Hocker, J., Pongratz, D. and Gerbitz, K. D. (1998). "Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene." Annals of Neurology 44(4):635-640.
Jaksch, M., Lochmuller, H., Schmitt, F., Volpel, B., Obermaier-Kusser, B. and Horvath, R. (2001). "A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract." Neurology 57(10):1930-1931.
Jakupciak, J. P., Maggrah, A., Maragh, S., Maki, J., Reguly, B., Maki, K., Wittock, R., Robinson, K., Wagner, P. D., Thayer, R. E., Gehman, K., Gehman, T., Srivastava, S., Ngom, A., Dakubo, G. D. and Parr, R. L. (2008). "Facile whole mitochondrial genome resequencing from nipple aspirate fluid using MitoChip v2.0." BMC Cancer 8:95.
James, A. M. and Murphy, M. P. (2002). "How mitochondrial damage affects cell function." Journal of Biomedical Science 9(6 Pt 1):475-487.
James, A. M., Cocheme, H. M., Smith, R. A. and Murphy, M. P. (2005). "Interactions of mitochondria-targeted and untargeted ubiquinones with the mitochondrial respiratory chain and reactive oxygen species. Implications for the use of exogenous ubiquinones as therapies and experimental tools." Journal of Biological Chemistry 280(22):21295-21312.
James, A. M., Sheard, P. W., Wei, Y. H. and Murphy, M. P. (1999). "Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations." European Journal of Biochemistry 259(1-2):462-469.
James, A. M., Smith, R. A. and Murphy, M. P. (2004). "Antioxidant and prooxidant properties of mitochondrial Coenzyme Q." Archives of Biochemistry and Biophysics 423(1):47-56.
James, A. M., Wei, Y. H., Pang, C. Y. and Murphy, M. P. (1996). "Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations." Biochemical Journal 318(Pt 2):401-407.
James, J. L., Stone, P. R. and Chamley, L. W. (2006). "The regulation of trophoblast differentiation by oxygen in the first trimester of pregnancy." Human Reproduction Update 12(2):137-144.
Jancic, J., Dejanovic, I., Samardzic, J., Radovanovic, S., Pepic, A., Kosanovic-Jakovic, N., Cetkovic, M. and Kostic, V. (2014). "Leber hereditary optic neuropathy in the population of Serbia." European Journal of Paediatric Neurology 18(3):354-359.
Jancic, J., Rovcanin, B., Djuric, V., Pepic, A., Samardzic, J., Nikolic, B., Novakovic, I. and Kostic, V. S. (2020). "Analysis of secondary mtDNA mutations in families with Leber's hereditary optic neuropathy: Four novel variants and their association with clinical presentation." Mitochondrion 50:132-138.
Janetzky, B., Hauck, S., Youdim, M. B., Riederer, P., Jellinger, K., Pantucek, F., Zochling, R., Boissl, K. W. and Reichmann, H. (1994). "Unaltered aconitase activity, but decreased complex I activity in substantia nigra pars compacta of patients with Parkinson's disease." Neuroscience Letters 169(1-2):126-128.
Jankauskaite, E., Bartnik, E. and Kodron, A. (2017). "Investigating Leber's hereditary optic neuropathy: Cell models and future perspectives." Mitochondrion 32:19-26.
Jansen, J. J., Maassen, J. A., van der Woude, F. J., Lemmink, H. A., van den Ouweland, J. M., tHart, L. M., Smeets, H. J., Bruijn, J. A. and Lemkes, H. H. (1997). "Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease." Journal of the American Society of Nephrology 8(7):1118-1124.
Jansen, P. H., van der Knaap, M. S. and de Coo, I. F. (1996). "Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings." Journal of the Neurological Sciences 135(2):176-180.
Jansen, R. P. (2000). "Origin and persistence of the mitochondrial genome." Human Reproduction 15 Suppl 2:1-10.
Janssen, A. J., Schuelke, M., Smeitink, J. A., Trijbels, F. J., Sengers, R. C., Lucke, B., Wintjes, L. T., Morava, E., van Engelen, B. G., Smits, B. W., Hol, F. A., Siers, M. H., Ter Laak, H., van der Knaap, M. S., Van Spronsen, F. J., Rodenburg, R. J. and van den Heuvel, L. P. (2008). "Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system." Annals of Neurology 63(4):473-481.
Janssen, G. M., Hensbergen, P. J., van Bussel, F. J., Balog, C. I., Maassen, J. A., Deelder, A. M. and Raap, A. K. (2007). "The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons." Human Molecular Genetics 16(20):2472-2481.
Janssen, G. M., Maassen, J. A. and van Den Ouweland, J. M. (1999). "The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate." Journal of Biological Chemistry 274(42):29744-29748.
Janssen, G. M., Neu, A., t Hart, L. M., van de Sande, C. M. and Antonie Maassen, J. (2006). "Novel mitochondrial DNA length variants and genetic instability in a family with diabetes and deafness." Experimental and Clinical Endocrinology and Diabetes 114(4):168-174.
Janssen, M. C. H., Koene, S., de Laat, P., Hemelaar, P., Pickkers, P., Spaans, E., Beukema, R., Beyrath, J., Groothuis, J., Verhaak, C. and Smeitink, J. (2019). "The KHENERGY study: safety and efficacy of KH176 in mitochondrial m.3243A>G spectrum disorders." Clinical Pharmacology and Therapeutics 105(1):101-111.
Janssen, R. J., Nijtmans, L. G., Heuvel, L. P. and Smeitink, J. A. (2006). "Mitochondrial complex I: Structure, function and pathology." Journal of Inherited Metabolic Disease 29(4):499-515.
Jansson, M., Darin, N., Kyllerman, M., Martinsson, T., Wahlstrom, J. and Oldfors, A. (2000). "Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy." Acta Neuropathologica (Berlin) 100(1):23-28.
Jarstrand, C. and Akerlund, B. (1994). "Oxygen radical release by neutrophils of HIV-infected patients." Chemico-Biological Interactions 91(2-3):141-146.
Jaruga, P. and Dizdaroglu, M. (1996). "Repair of products of oxidative DNA base damage in human cells." Nucleic Acids Research 24(8):1389-1394.
Javed, A. A., Ogata, K. and Sanadi, D. R. (1991). "Human mitochondrial ATP synthase: cloning cDNA for the nuclear-encoded precursor of coupling factor 6." Gene 97(2):307-310.
Javitch, J. A., D'Amato, R. J., Strittmatter, S. M. and Snyder, S. H. (1985). "Parkinsonism-inducing neurotoxin, N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine: uptake of the metabolite N-methyl-4-phenylpyridine by dopamine neurons explains selective toxicity." Proceedings of the National Academy of Sciences of the United States of America 82(7):2173-2177.
Jaya, D. S., Augstine, J. and Menon, V. P. (1993). "Role of lipid peroxides, glutathione and antiperoxidative enzymes in alcohol and drug toxicity." Indian Journal of Experimental Biology 31(5):453-459.
Jazin, E. E., Cavelier, L., Eriksson, I., Oreland, L. and Gyllensten, U. (1995). "Estimation of the total amount of mitochondrial DNA sequence heteroplasmy in human brain. Abstract P 031." Euromit III, Third International Meeting on Human Mitochondrial Pathology:142.
Jazin, E. E., Cavelier, L., Eriksson, I., Oreland, L. and Gyllensten, U. (1996). "Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA." Proceedings of the National Academy of Sciences of the United States of America 93(22):12382-12387.
Jazin, E., Soodyall, H., Jalonen, P., Lindholm, E., Stoneking, M. and Gyllensten, U. (1998). "Mitochondrial mutation rate revisited: hot spots and polymorphism." Nature Genetics 18(2):109-110.
Jean, J., Christodoulou, E., Gai, X., Tamrazi, B., Vera, M., Mitchell, W. G. and Schmidt, R. J. (2022). "m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome." Cold Spring Harbor Molecular Case Studies 8(2):a006136.
Jean-Francois, M. J., Lertrit, P., Berkovic, S. F., Crimmins, D., Morris, J., Marzuki, S. and Byrne, E. (1994). "Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNALeu(UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies." Australian and New Zealand Journal of Medicine 24(2):188-193.
Jellinger, K. A. (2003). "General aspects of neurodegeneration." Journal of Neural Transmission. Supplementum. 65:101-144.
Jeng, J. Y., Yeh, T. S., Lee, J. W., Lin, S. H., Fong, T. H. and Hsieh, R. H. (2008). "Maintenance of mitochondrial DNA copy number and expression are essential for preservation of mitochondrial function and cell growth." Journal of Cellular Biochemistry 103(2):347-357.
Jenkins, B. G., Koroshetz, W. J., Beal, M. F. and Rosen, B. R. (1993). "Evidence for impairment of energy metabolism in vivo in Huntington's disease using localized 1H NMR spectroscopy." Neurology 43(12):2689-2695.
Jenner, P., Dexter, D. T., Sian, J., Schapira, A. H. and Marsden, C. D. (1992). "Oxidative stress as a cause of nigral cell death in Parkinson's disease and incidental Lewy body disease." Annals of Neurology 32 Suppl:S82-87.
Jenuth, J. P., Peterson, A. C. and Shoubridge, E. A. (1997). "Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice." Nature Genetics 16(1):93-95.
Jenuth, J. P., Peterson, A. C., Fu, K. and Shoubridge, E. A. (1996). "Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA [see comments]." Nature Genetics 14(2):146-151.
Jeong, M. H., Kim, J. H., Seo, K. S., Kwak, T. H. and Park, W. J. (2014). "beta-Lapachone attenuates mitochondrial dysfunction in MELAS cybrid cells." Biochemical and Biophysical Research Communications 454(3):417-422.
Jeoung, J. W., Seong, M. W., Park, S. S., Kim, D. M., Kim, S. H. and Park, K. H. (2014). "Mitochondrial DNA variant discovery in normal-tension glaucoma patients by next-generation sequencing." Investigative Ophthalmology and Visual Science 55(2):986-992.
Jeppesen, T. D., Duno, M., Risom, L., Wibrand, F., Krag, T., Jakobsen, J., Andersen, H. and Vissing, J. (2013). "A novel de novo mutation of the mitochondrial tRNA gene mt.8340G>A associated with pure myopathy". Neuromuscular Disorders 24(2):162-166.
Jeppesen, T. D., Duno, M., Schwartz, M., Krag, T., Rafiq, J., Wibrand, F. and Vissing, J. (2009). "Short- and long-term effects of endurance training in patients with mitochondrial myopathy." European Journal of Neurology 16(12):1336-1339.
Jeppesen, T. D., Orngreen, M. C., Van Hall, G. and Vissing, J. (2013). "Lactate metabolism during exercise in patients with mitochondrial myopathy". Neuromuscular Disorders 23(8):629-636.
Jeppesen, T. D., Orngreen, M. C., van Hall, G., Haller, R. G. and Vissing, J. (2009). "Fat metabolism during exercise in patients with mitochondrial disease". Archives of Neurology 66(3):365-370.
Jeppesen, T. D., Schwartz, M., Frederiksen, A. L., Wibrand, F., Olsen, D. B. and Vissing, J. (2006). "Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation." Archives of Neurology 63(12):1701-1706.
Jeppesen, T. D., Schwartz, M., Hansen, K., Danielsen, E. R., Wibrand, F. and Vissing, J. (2003). "Late onset of stroke-like episode associated with a 3256C-->T point mutation of mitochondrial DNA." Journal of the Neurological Sciences 214(1-2):17-20.
Jeppesen, T. D., Schwartz, M., Olsen, D. B. and Vissing, J. (2003). "Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy." Annals of Neurology 54(1):86-92.
Jeppesen, T. D., Schwartz, M., Olsen, D. B., Wibrand, F., Krag, T., Duno, M., Hauerslev, S. and Vissing, J. (2006). "Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy". Brain 129(Pt 12):3402-3412.
Jeronimo, C., Nomoto, S., Caballero, O. L., Usadel, H., Henrique, R., Varzim, G., Oliveira, J., Lopes, C., Fliss, M. S. and Sidransky, D. (2001). "Mitochondrial mutations in early stage prostate cancer and bodily fluids." Oncogene 20(37):5195-5198.
Jesina, P., Tesarova, M., Fornuskova, D., Vojtiskova, A., Pecina, P., Kaplanova, V., Hansikova, H., Zeman, J. and Houstek, J. (2004). "Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206." Biochemical Journal 383(Pt. 3):561-571.
Jessie, B. C., Sun, C. Q., Irons, H. R., Marshall, F. F., Wallace, D. C. and Petros, J. A. (2001). "Accumulation of mitochondrial DNA deletions in the malignant prostate of patients of different ages." Experimental Gerontology 37(1):169-174.
Jha, R. K., Dawar, C., Hasan, Q., Pujar, A., Gupta, G., Vishnu, V., Y., Kekunnaya, R. and Thangaraj, K. (2021). "Mitochondrial genetic heterogeneity in Leber's hereditary optic neuropathy: original study with meta-analysis." Genes 12(9):1300.
Ji, D., Li, X., Pan, J., Zong, K., Chen, D., Marley, J. L., Zou, W., Deng, X., Cao, Y., Zhang, Z., Zhou, P., Sha, H. and Cao, Y. (2021). "Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation." Journal of Assisted Reproduction and Genetics 38(12):3251-3260.
Ji, D., Su, X., Hu, C., Zhang, Z., Wang, M., Zou, W., Shen, L., Liu, Y., Liang, C., Du, Y., Liang, D. and Cao, Y. (2022). "Generation of an induced pluripotent stem cell line from a patient with leber's hereditary optic neuropathy carrying a homoplasmic m.3635G > A mutation in the mitochondrial ND1 gene." Stem Cell Research 63:102858.
Ji, F., Sharpley, M. S., Derbeneva, O., Alves, L. S., Qian, P., et al. (2012). "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans". Proceedings of the National Academy of Sciences of the United States of America 109(19):7391-7396.
Ji, K., Lin, Y., Xu, X., Wang, W., Wang, D., Zhang, C., Li, W., Zhao, Y. and Yan, C. (2022). "MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNA(Trp) and remarkable mitochondrial dysfunction." Journal of Medical Genetics 59(1):79-87.
Ji, K., Zheng, J., Sun, B., Liu, F., Shan, J., Li, D., Luo, Y. B., Zhao, Y. and Yan, C. (2014). "Novel mitochondrial C15620A variant may modulate the phenotype of mitochondrial G11778A mutation in a Chinese family with Leigh syndrome." Neuromolecular Medicine 16(1):119-126.
Ji, L., Gao, L. and Han, X. (2001). "[Association of 16189 variant (T-->C transition) of mitochondrial DNA with genetic predisposition to type 2 diabetes in Chinese populations]." Zhonghua Yi Xue Za Zhi (Taipei) 81(12):711-714.
Ji, L., Hou, X. and Han, X. (2001). "Prevalence and clinical characteristics of mitochondrial tRNAleu(UUR) nt 3243 A-->G and nt 3316 G-->A mutations in Chinese patients with type 2 diabetes." Diabetes Research and Clinical Practice 54 Suppl 2:S35-S38.
Ji, Y. B., Han, D. Y., Lan, L., Wang, D. Y., Zong, L., Zhao, F. F., Liu, Q., Benedict-Alderfer, C., Zheng, Q. Y. and Wang, Q. J. (2011). "Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China". Acta Oto-Laryngologica 131(2):124-129.
Ji, Y. C., Liu, X. L., Zhao, F. X., Zhang, J. J., Zhang, Y., Zhou, X. T., Qu, J. and Guan, M. X. (2011). "[The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families]." Yi Chuan 33(4):322-328.
Ji, Y., Jia, X., Zhang, Q. and Yao, Y. G. (2007). "mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation." Biochemical and Biophysical Research Communications 364(2):238-242.
Ji, Y., Liang, M., Zhang, J., Zhu, L., Zhang, Z., Fu, R., Liu, X., Zhang, M., Fu, Q., Zhao, F., Tong, Y., Sun, Y., Jiang, P. and Guan, M. X. (2016). "Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's hereditary optic neuropathy." Investigative Ophthalmology and Visual Science 57(6):2377-2789.
Ji, Y., Nie, Z., Meng, F., Hu, C., Chen, H., Jin, L., Chen, M., Zhang, M., Zhang, J., Liang, M., Wang, M. and Guan, M. X. (2021). "Mechanistic insights into mitochondrial tRNA(Ala) 3'-end metabolism deficiency." The Journal of Biological Chemistry 297(1):100816.
Ji, Y., Qiao, L., Liang, X., Zhu, L., Gao, Y., Zhang, J., Jia, Z., Wei, Q. P., Liu, X., Jiang, P. and Guan, M. X. (2017). "Leber's hereditary optic neuropathy is potentially associated with a novel m.5587T>C mutation in two pedigrees." Molecular Medicine Reports 16(6):8997-9004.
Ji, Y., Zhang, A. M., Jia, X., Zhang, Y. P., Xiao, X., Li, S., Guo, X., Bandelt, H. J., Zhang, Q. and Yao, Y. G. (2008). "Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation." American Journal of Human Genetics 83(6):760-768.
Ji, Y., Zhang, J., Liang, M., Meng, F., Zhang, M., Mo, J. Q., Wang, M. and Guan, M. X. (2022). "Mitochondrial tRNA variants in 811 Chinese probands with Leber's hereditary optic neuropathy." Mitochondrion 65:56-66.
Ji, Y., Zhang, J., Lu, Y., Yi, Q., Chen, M., Xie, S., Mao, X., Xiao, Y., Meng, F., Zhang, M., Yang, R. and Guan, M. X. (2020). "Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy." The Journal of Biological Chemistry 295(38):13224-13238.
Ji, Y., Zhang, J., Yu, J., Wang, Y., Lu, Y., et al. (2019). "Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy." Human Molecular Genetics 28(9):1515-1529.
Jia, X., Li, S., Wang, P., Guo, X. and Zhang, Q. (2010). "mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population." Biochemical and Biophysical Research Communications 403(2):237-241.
Jia, X., Li, S., Xiao, X., Guo, X. and Zhang, Q. (2006). "Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy." Journal of Human Genetics 51(10):851-856.
Jiang, C., Cui, J., Liu, F., Gao, L., Luo, Y., Li, P., Guan, L. and Gao, Y. (2014). "Mitochondrial DNA 10609T promotes hypoxia-induced increase of intracellular ROS and is a risk factor of high altitude polycythemia." PLoS ONE 9(1):e87775.
Jiang, P., Jin, X., Peng, Y., Wang, M., Liu, H., Liu, X., Zhang, Z., Ji, Y., Zhang, J., Liang, M., Zhao, F., Sun, Y. H., Zhang, M., Zhou, X., Chen, Y., Mo, J. Q., Huang, T., Qu, J. and Guan, M. X. (2016). "The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation." Human Molecular Genetics 25(3):584-596.
Jiang, P., Liang, M., Zhang, C., Zhao, X., He, Q., Cui, L., Liu, X., Sun, Y. H., Fu, Q., Ji, Y., Bai, Y., Huang, T. and Guan, M. X. (2016). "Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation." Human Molecular Genetics 25(16):3613-3625.
Jiang, P., Ling, Y., Zhu, T., Luo, X., Tao, Y., Meng, F., Cheng, W. and Ji, Y. (2020). "Mitochondrial tRNA mutations in Chinese children with tic disorders." Bioscience Reports 40(12):BSR20201856.
Jiang, P., Wang, M., Xue, L., Xiao, Y., Yu, J., Wang, H., Yao, J., Liu, H., Peng, Y., Liu, H., Li, H., Chen, Y. and Guan, M. X. (2016). "A hypertension-associated tRNAAla mutation alters tRNA metabolism and mitochondrial function." Molecular and Cellular Biology 36(14):1920-1930.
Jiang, S., Cai, J., Wallace, D. C. and Jones, D. P. (1999). "Cytochrome c-mediated apoptosis in cells lacking mitochondrial DNA. Signaling pathway involving release and caspase 3 activation is conserved." Journal of Biological Chemistry 274(42):29905-29911.
Jiang, W., Li, R., Zhang, Y., Wang, P., Wu, T., Lin, J., Yu, J. and Gu, M. (2017). "Mitochondrial DNA mutations associated with type 2 diabetes mellitus in Chinese Uyghur population." Scientific Reports 7(1):16989.
Jiang, Y. W., Qin, J., Yuan, Y., Qi, Y. and Wu, X. R. (2002). "Neuropathologic and clinical features in eight Chinese patients with Leigh disease." Journal of Child Neurology 17(6):450-452.
Jiang, Z., Cai, X., Kong, J., Zhang, R. and Ding, Y. (2022). "Maternally transmitted diabetes mellitus may be associated with mitochondrial ND5 T12338C and tRNA(Ala) T5587C variants." Irish Journal of Medical Science 191(6):2625-2633.
Jiang, Z., Yu, J., Xia, B. and Zhuo, G. (2016). "Mitochondrial tRNAThr 15891C>G mutation was not associated with Leber's hereditary optic neuropathy in Han Chinese patients." Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis 27(2):1564-1566.
Jiang, Z., Zhang, Y., Yan, J., Li, F., Geng, X., Lu, H., Wei, X., Feng, Y., Wang, C. and Jia, W. (2019). "De novo mutation of m.3243A>G together with m.16093T>C associated with atypical clinical features in a pedigree with MIDD syndrome." Journal of Diabetes Research 2019:5184647.
Jimenez-Morales, S., Perez-Amado, C. J., Langley, E. and Hidalgo-Miranda, A. (2018). "Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review)." International Journal of Oncology 53(3):923-936.
Jin, H., May, M., Tranebjaerg, L., Kendall, E., Fontan, G., Jackson, J., Subramony, S. H., Arena, F., Lubs, H., Smith, S., Stevenson, R., Schwartz, C. and Vetrie, D. (1996). "A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness." Nature Genetics 14(2):177-180.
Jin, L., Yang, A., Zhu, Y., Zhao, J., Wang, X., et al. (2007). "Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss." Biochemical and Biophysical Research Communications 361(1):133-139.
Jin, S. (2006). "Autophagy, mitochondrial quality control, and oncogenesis." Autophagy 2(2):80-84.
Jin, X., Cheng, Z., Wang, B., Yau, T. O., Chen, Z., Barker, S. C., Chen, D., Bu, W., Sun, D. and Gao, S. (2020). "Precise annotation of human, chimpanzee, rhesus macaque and mouse mitochondrial genomes leads to insight into mitochondrial transcription in mammals." RNA Biology 17(3):395-402.
Jin, Y., Yu, Q., Zhou, D., Chen, L., Huang, X., Xu, G., Huang, J., Gao, X., Gao, Y. and Shen, L. (2012). "The mitochondrial DNA 9-bp deletion polymorphism is a risk factor for hepatocellular carcinoma in the Chinese population". Genetic Testing and Molecular Biomarkers 16(5):330-334.
Jinam, T. A., Hong, L. C., Phipps, M. E., Stoneking, M., Ameen, M., Edo, J. and Saitou, N. (2012). "Evolutionary history of continental southeast Asians: "early train" hypothesis based on genetic analysis of mitochondrial and autosomal DNA data". Molecular Biology and Evolution 29(11):3513-3527.
Jindal, S., Dudani, A. K., Singh, B., Harley, C. B. and Gupta, R. S. (1989). "Primary structure of a human mitochondrial protein homologous to the bacterial and plant chaperonins and to the 65-kilodalton mycobacterial antigen." Molecular and Cellular Biology 9(5):2279-2283.
Johns, D. (1991). "Allelic mutations of the fourth subunit of NADH dehydrogenase are not pathogenetically important in 11778-negative Leber hereditary optic neuropathy [letter; comment]." American Journal of Human Genetics 48(6):1209-1213.
Johns, D. R. (1990). "The molecular genetics of Leber's hereditary optic neuropathy." Archives of Ophthalmology 108(10):1405-1407.
Johns, D. R. (1990). "MtDNA deletions in Kearns-Sayre [letter; comment]." Neurology 40(8):1322-1323.
Johns, D. R. (1992). "Mitochondrial ND-1 mutation in Leber hereditary optic neuropathy [letter]." American Journal of Human Genetics 50(4):872-874.
Johns, D. R. (1994). "Reply to Brown et al. ("Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy", Am. J. Hum. Genet. 55:410, 1994)." American Journal of Human Genetics 55:410-412.
Johns, D. R. (2003). "Paternal transmission of mitochondrial DNA is (fortunately) rare." Annals of Neurology 54(4):422-424.
Johns, D. R. and Berman, J. (1991). "Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy." Biochemical and Biophysical Research Communications 174(3):1324-1330.
Johns, D. R. and Cornblath, D. R. (1991). "Molecular insight into the asymmetric distribution of pathogenetic human mitochondrial DNA deletions." Biochemical and Biophysical Research Communications 174(1):244-250.
Johns, D. R. and Hurko, O. (1989). "Preferential amplification and molecular characterization of junction sequences of a pathogenic deletion in human mitochondrial DNA." Genomics 5(3):623-628.
Johns, D. R. and Hurko, O. (1991). "Mitochondrial leucine tRNA mutation in neurological diseases [letter]." Lancet 337(8746):927-928.
Johns, D. R. and Neufeld, M. (1993). "Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON)." American Journal of Human Genetics 53(4):916-920.
Johns, D. R. and Neufeld, M. J. (1991). "Cytochrome b mutations in Leber hereditary optic neuropathy." Biochemical and Biophysical Research Communications 181(3):1358-1364.
Johns, D. R. and Neufeld, M. J. (1993). "Cytochrome c oxidase mutations in Leber hereditary optic neuropathy." Biochemical and Biophysical Research Communications 196(2):810-815.
Johns, D. R. and Sadun, A. A. (1994). "Cuban epidemic optic neuropathy: mitochondrial DNA analysis [published editorial comment appears in J. Neuro-ophthalmol. 14:129, 1994]." Journal of Neuro-ophthalmology 14(3):130-134.
Johns, D. R., Drachman, D. B. and Hurko, O. (1989). "Identical mitochondrial DNA deletions in blood and muscle [letter]." Lancet 1(8634):393-394.
Johns, D. R., Heher, K. L., Miller, N. R. and Smith, K. H. (1993). "Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation." Archives of Ophthalmology 111(4):495-498.
Johns, D. R., Neufeld, M. J. and Hedges, T. R. (1994). "Mitochondrial DNA mutations in Cuban optic and peripheral neuropathy." Journal of Neuro-ophthalmology 14(3):135-140.
Johns, D. R., Neufeld, M. J. and Park, R. D. (1992). "An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy." Biochemical and Biophysical Research Communications 187(3):1551-1557.
Johns, D. R., Rutledge, S. L., Stine, O. C. and Hurko, O. (1989). "Directly repeated sequences associated with pathogenic mitochondrial DNA deletions." Proceedings of the National Academy of Sciences of the United States of America 86(20):8059-8062.
Johns, D. R., Smith, K. H. and Miller, N. R. (1992). "Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation." Archives of Ophthalmology 110(11):1577-1581.
Johns, D. R., Smith, K. H., Miller, N. R., Sulewski, M. E. and Bias, W. B. (1993). "Identical twins who are discordant for Leber's hereditary optic neuropathy." Archives of Ophthalmology 111(11):1491-1494.
Johns, D. R., Smith, K. H., Savino, P. J. and Miller, N. R. (1993). "Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation." Archives of Ophthalmology 100(7):981-986.
Johns, D. R., Stein, A. G. and Wityk, R. (1993). "MELAS syndrome masquerading as herpes simplex encephalitis." Neurology 43(12):2471-2473.
Johns, D. R., Threlkeld, A. B., Miller, N. R. and Hurko, O. (1993). "Multiple mitochondrial DNA deletions in myo-neuro-gastrointestinal encephalopathy syndrome [letter]." American Journal of Ophthalmology 115(1):108-109.
Johnson, K. R., Zheng, Q. Y., Bykhovskaya, Y., Spirina, O. and Fischel-Ghodsian, N. (2001). "A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice." Nature Genetics 27(2):191-194.
Johnson, M. A., Bindoff, L. A. and Turnbull, D. M. (1993). "Cytochrome c oxidase activity in single muscle fibers: assay techniques and diagnostic applications." Annals of Neurology 33(1):28-35.
Johnson, M. J., Wallace, D. C., Ferris, S. D., Rattazzi, M. C. and Cavalli-Sforza, L. L. (1983). "Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns." Journal of Molecular Evolution 19(3-4):255-271.
Johnson, W. G., Hodge, S. E. and Duvoisin, R. (1990). "Twin studies and the genetics of Parkinson's disease--a reappraisal." Movement Disorders 5(3):187-194.
Johnston, J. and Thomas, M. (2003). "Summary: the science of genealogy by genetics." Developing World Bioethics 3(2):103-108.
Johnston, W., Karpati, G., Carpenter, S., Arnold, D. and Shoubridge, E. A. (1995). "Late-onset mitochondrial myopathy." Annals of Neurology 37(1):16-23.
Jonassen, T., Proft, M., Randez-Gil, F., Schultz, J. R., Marbois, B. N., Entian, K. D. and Clarke, C. F. (1998). "Yeast Clk-1 homologue (Coq7/Cat5) is a mitochondrial protein in coenzyme Q synthesis." Journal of Biological Chemistry 273(6):3351-3357.
Jonckheere, A. I., Hogeveen, M., Nijtmans, L. G., van den Brand, M. A., Janssen, A. J., Diepstra, J. H., van den Brandt, F. C., van den Heuvel, L. P., Hol, F. A., Hofste, T. G., Kapusta, L., Dillmann, U., Shamdeen, M. G., Smeitink, J. A. and Rodenburg, R. J. (2008). "A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy." Journal of Medical Genetics 45(3):129-133.
Jones-Humble, S. A., Morgan, P. F. and Cooper, B. R. (1994). "The novel anticonvulsant lamotrigine prevents dopamine depletion in C57 black mice in the MPTP animal model of Parkinson's disease." Life Sciences 54(4):245-252.
Jones, A. C., Austin, J., Hansen, N., Hoogendoorn, B., Oefner, P. J., Cheadle, J. P. and O'Donovan, M. C. (1999). "Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis." Clinical Chemistry 45(8 Pt 1):1133-1140.
Jones, C. N., Jones, C. I., Graham, W. D., Agris, P. F. and Spremulli, L. L. (2008). "A disease-causing point mutation in human mitochondrial tRNAMet rsults in tRNA misfolding leading to defects in translational initiation and elongation." The Journal of Biological Chemistry 283(49):34445-34456.
Jones, J. B., Song, J. J., Hempen, P. M., Parmigiani, G., Hruban, R. H. and Kern, S. E. (2001). "Detection of mitochondrial DNA mutations in pancreatic cancer offers a "mass"-ive advantage over detection of nuclear DNA mutations." Cancer Research 61(4):1299-1304.
Jones, P. L., Kucera, G., Gordon, H. and Boss, J. M. (1995). "Cloning and characterization of the murine manganous superoxide dismutase-encoding gene." Gene 153(2):155-161.
Jordan, E. M. and Breen, G. A. M. (1992). "Molecular cloning of an import precursor of the delta-subunit of the human mitochondrial ATP synthase complex." Biochimica et Biophysica Acta 1130(1):123-126.
Jorde, L. B. and Bamshad, M. (2000). "Questioning evidence for recombination in human mitochondrial DNA [Technical Comment #2 re: Awadalla et al 1999]." Science 288(5473):1931.
Jorde, L. B., Bamshad, M. J., Watkins, W. S., Zenger, R., Fraley, A. E., Krakowiak, P. A., Carpenter, K. D., Soodyall, H., Jenkins, T. and Rogers, A. R. (1995). "Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data." American Journal of Human Genetics 57(3):523-538.
Jorde, L. B., Rogers, A. R., Bamshad, M., Watkins, W. S., Krakowiak, P., Sung, S., Kere, J. and Harpending, H. C. (1997). "Microsatellite diversity and the demographic history of modern humans." Proceedings of the National Academy of Sciences of the United States of America 94(7):3100-3103.
Jorstad, O. K., Odegaard, E. M., Heimdal, K. R. and Kerty, E. (2018). "Leber hereditary optic neuropathy caused by a mitochondrial DNA 10663T>C point mutation and its response to idebenone treatment." Journal of Neuro-Ophthalmology 38(1):129-131.
Joshi, P. R., Baty, K., Hopton, S., Cordts, I., Falkous, G., Schoser, B., Blakely, E. L., Taylor, R. W. and Deschauer, M. (2020). "Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA(Pro)) gene variant." Neuromuscular Disorders 30(4):346-350.
Joshi, S. and Kermode, A. G. (2019). "Harding's disease: an important MS mimic." BMJ Case Reports 12(3):e228337.
Joy, D. A., Feng, X., Mu, J., Furuya, T., Chotivanich, K., Krettli, A. U., Ho, M., Wang, A., White, N. J., Suh, E., Beerli, P. and Su, X. Z. (2003). "Early origin and recent expansion of Plasmodium falciparum." Science 300(5617):318-321.
Ju, Y. S., Tubio, J. M., Mifsud, W., Fu, B., Davies, H. R., et al. (2015). "Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells." Genome Research 25(6):814-824.
Jukes, T. H. and Osawa, S. (1993). "Evolutionary changes in the genetic code." Comp Biochem Physiol B 106(3):489-494.
Jukes, T. H. and Osawa, S. (1990). "The genetic code in mitochondria and chloroplasts." Experientia 46(11-12):1117-1126.
Jukes, T. H., Osawa, S., Muto, A. and Lehman, N. (1987). "Evolution of anticodons: variations in the genetic code." Cold Spring Harbor Symposia on Quantitative Biology 52:769-776.
Jun, A. S., Brown, M. D. and Wallace, D. C. (1994). "A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia." Proceedings of the National Academy of Sciences of the United States of America 91(13):6206-6210.
Jun, A. S., Trounce, I. A., Brown, M. D., Shoffner, J. M. and Wallace, D. C. (1996). "Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia." Molecular and Cellular Biology 16(3):771-777.
Jun, A. S., Trounce, I. A., Brown, M. D., Shoffner, J. M., Kim, Y. L. and Wallace, D. C. (1994). "Marked complex I deficiency in patients harboring the np14459 ND6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy and dystonia." American Journal of Human Genetics 55(Suppl.):A225 (Abst.1311).
Jung, J., Mauguiere, F., Clerc-Renaud, P., Ollagnon, E., de Camaret, B. M. and Ryvlin, P. (2007). "NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy." Neurology 68(17):1429-1430.
Juo, S. H., Lu, M. Y., Bai, R. K., Liao, Y. C., Trieu, R. B., Yu, M. L. and Wong, L. J. (2010). "A common mitochondrial polymorphism 10398A>G is associated metabolic syndrome in a Chinese population." Mitochondrion 10(3):294-299.
Juras, A., Chylenski, M., Ehler, E., Malmstrom, H., Zurkiewicz, D., Wlodarczak, P., Wilk, S., Peska, J., Fojtik, P., Kralik, M., Libera, J., Baginska, J., Tunia, K., Klochko, V. I., Dabert, M., Jakobsson, M. and Kosko, A. (2018). "Mitochondrial genomes reveal an east to west cline of steppe ancestry in Corded Ware populations." Scientific Reports 8(1):11603.
Juras, A., Chylenski, M., Krenz-Niedbala, M., Malmstrom, H., Ehler, E., Pospieszny, L., Lukasik, S., Bednarczyk, J., Piontek, J., Jakobsson, M. and Dabert, M. (2017). "Investigating kinship of Neolithic post-LBK human remains from Krusza Zamkowa, Poland using ancient DNA." Forensic Science International. Genetics 26:30-39.
Juras, A., Krzewinska, M., Nikitin, A. G., Ehler, E., Chylenski, M., Lukasik, S., Krenz-Niedbala, M., Sinika, V., Piontek, J., Ivanova, S., Dabert, M. and Gotherstrom, A. (2017). "Diverse origin of mitochondrial lineages in Iron Age Black Sea Scythians." Scientific Reports 7:43950.
Juras, A., Makarowicz, P., Chylenski, M., Ehler, E., Malmstrom, H., Krzewinska, M., Pospieszny, L., Gorski, J., Taras, H., Szczepanek, A., Polanska, M., Wlodarczak, P., Szyca, A., Lasota-Kus, A., Wojcik, I., Jakobsson, M. and Dabert, M. (2020). "Mitochondrial genomes from Bronze Age Poland reveal genetic continuity from the Late Neolithic and additional genetic affinities with the steppe populations." American Journal of Physical Anthropology 172(2):176-188.
Jurkute, N. and Yu-Wai-Man, P. (2017). "Leber hereditary optic neuropathy: bridging the translational gap." Current Opinion in Ophthalmology 28(5):403-409.
Jurkute, N., Harvey, J. and Yu-Wai-Man, P. (2019). "Treatment strategies for Leber hereditary optic neuropathy." Current Opinion in Neurology 32(1):99-104.
Just, R. S., Diegoli, T. M., Saunier, J. L., Irwin, J. A. and Parsons, T. J. (2008). "Complete mitochondrial genome sequences for 265 African American and U.S. "Hispanic" individuals." Forensic Science International. Genetics 2(3):e45-e48.
Just, R. S., Loreille, O. M., Molto, J. E., Merriwether, D. A., Woodward, S. R., Matheson, C., Creed, J., McGrath, S. E., Sturk-Andreaggi, K., Coble, M. D., Irwin, J. A., Ruffman, A. and Parr, R. L. (2011). "Titanic's unknown child: the critical role of the mitochondrial DNA coding region in a re-identification effort." Forensic Science International 5(3):231-235.
Juvonen, V., Huoponen, K., Syvanen, A. C., Nikoskelainen, E. and Savontaus, M. L. (1994). "Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing." Human Genetics 93(1):16-20.
Juvonen, V., Nikoskelainen, E., Lamminen, T., Penttinen, M., Aula, P. and Savontaus, M. L. (1997). "Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy." Human Mutation 9(5):412-417.
Kabala, A. M., Lasserre, J. P., Ackerman, S. H., di Rago, J. P. and Kucharczyk, R. (2014). "Defining the impact on yeast ATP synthase of two pathogenic human mitochondrial DNA mutations, T9185C and T9191C." Biochimie 100:200-206.
Kadenbach, B. (1969). "Half-lives of cytochrome c from various organs of the rat." Biochimica et Biophysica Acta 186:399-401.
Kadenbach, B., Jarausch, J., Hartmann, R. and Merle, P. (1983). "Separation of mammalian cytochrome c oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure." Analytical Biochemistry 129:517-521.
Kadowaki, H., Tobe, K., Mori, Y., Sakura, H., Sakuta, R., Nonaka, I., Hagura, R., Yazaki, Y., Akanuma, Y. and Kadowaki, T. (1993). "Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus [letter]." Lancet 341(8849):893-894.
Kadowaki, T., Kadowaki, H., Mori, Y., Tobe, K., Sakuta, R., Suzuki, Y., Tanabe, Y., Sakura, H., Awata, T., Goto, Y., Hayakawa, T., Matsuoka, K., Kawamori, R., Kamade, T., Horai, S., Nonake, I., Hagura, R., Akanuma, Y. and Yazaki, Y. (1994). "A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA." New England Journal of Medicine 330(14):962-968.
Kadowaki, T., Sakura, H., Otabe, S., Yasuda, K., Kadowaki, H., Mori, Y., Hagura, R., Akanuma, Y. and Yazaki, Y. (1995). "A subtype of diabetes mellitus associated with a mutation in the mitochondrial gene." Muscle and Nerve 3(41):S137-141.
Kaestle, F. A., Kittles, R. A., Roth, A. L. and Ungvarsky, E. J. (2006). "Database Limitations on the Evidentiary Value of Forensic Mitochondrial DNA Evidence." American Criminal Law Review 43:53-88.
Kagawa, Y. and Hayashi, J. I. (1997). "Gene therapy of mitochondrial diseases using human cytoplasts." Gene Therapy 4(1):6-10.
Kagawa, Y., Hamamoto, T., Endo, H., Ichida, M., Shibui, H. and Hayakawa, M. (1997). "Genes of human ATP synthase: their roles in physiology and aging." Bioscience Reports 17(2):115-146.
Kahn, C. R., Vicent, D. and Doria, A. (1996). "Genetics of non-insulin-dependent (type-II) diabetes mellitus." Annual Review of Medicine 47:509-531.
Kahn, P. and Gibbons, A. (1997). "DNA from an extinct human [news] [see comments]." Science 277(5323):176-178.
Kai, Y., Miyako, K., Muta, T., Umeda, S., Irie, T., Hamasaki, N., Takeshige, K. and Kang, D. (1999). "Mitochondrial DNA replication in human T lymphocytes is regulated primarily at the H-strand termination site." Biochimica et Biophysica Acta 1446(1-2):126-134.
Kajander, O. A., Rovio, A. T., Majamaa, K., Poulton, J., Spelbrink, J. N., Holt, I. J., Karhunen, P. J. and Jacobs, H. T. (2000). "Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states." Human Molecular Genetics 9(19):2821-2835.
Kakuda, T. N. (2000). "Pharmacology of nucleoside and nucleotide reverse transcriptase inhibitor-induced mitochondrial toxicity." Clin Ther 22(6):685-708.
Kalaydjieva, L., Calafell, F., Jobling, M. A., Angelicheva, D., de Knijff, P., Rosser, Z. H., Hurles, M. E., Underhill, P., Tournev, I., Marushiakova, E. and Popov, V. (2001). "Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages." European Journal of Human Genetics 9(2):97-104.
Kalinska-Bienias, A., Pollak, A., Kowalewski, C., Lechowicz, U., Stawinski, P., Gergont, A., Kosinska, J., Pronicka, E., Kowalski, P., Wozniak, K. and Ploski, R. (2017). "Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy." American Journal of Medical Genetics. Part A 173(11):3093-3097.
Kalman, B. and Alder, H. (1998). "Is the mitochondrial DNA involved in determining susceptibility to multiple sclerosis?" Acta Neurologica Scandinavica 98(4):232-237.
Kalman, B. and Mandler, R. N. (2002). "Studies of mitochondrial DNA in Devic's disease revealed no pathogenic mutations, but polymorphisms also found in association with multiple sclerosis." Annals of Neurology 51(5):661-662.
Kalman, B., Lublin, F. D. and Alder, H. (1997). "Impairment of central and peripheral myelin in mitochondrial diseases." Multiple Sclerosis 2(6):267-278.
Kalman, B., Rodriguez-Valdez, J. L., Bosch, U. and Lublin, F. D. (1997). "Screening for Leber's hereditary optic neuropathy associated mitochondrial DNA mutations in patients with prominent optic neuritis." Multiple Sclerosis 2(6):279-282.
Kalsbeek, A. M., Chan, E. F., Grogan, J., Petersen, D. C., Jaratlerdsiri, W., Gupta, R., Lyons, R. J., Haynes, A. M., Horvath, L. G., Kench, J. G., Stricker, P. D. and Hayes, V. M. (2016). "Mutational load of the mitochondrial genome predicts pathological features and biochemical recurrence in prostate cancer." Aging (Albany NY) 8(11):2702-2712.
Kalsbeek, A. M. F., Chan, E. K. F., Corcoran, N. M., Hovens, C. M. and Hayes, V. M. (2017). "Mitochondrial genome variation and prostate cancer: a review of the mutational landscape and application to clinical management." Oncotarget 8(41):71342-71357.
Kaltimbacher, V., Bonnet, C., Lecoeuvre, G., Forster, V., Sahel, J. A. and Corral-Debrinski, M. (2006). "mRNA localization to the mitochondrial surface allows the efficient translocation inside the organelle of a nuclear recoded ATP6 protein." RNA 12(7):1408-1417.
Kamakura, K., Abe, H., Tadano, Y., Nakamura, R., Kobayashi, H., Kawaguchi, S., Nagata, N., Matsuoka, T., Sakuta, R. and Nonaka, I. (1995). "Recurrent respiratory failure in a patient with 3243 mutation in mitochondrial DNA [letter]." Journal of Neurology 242(4):253-255.
Kamboh, M. I., Sanghera, D. K., Ferrell, R. E. and DeKosky, S. T. (1995). "APOE*4-associated Alzheimer's disease risk is modified by alpha 1-antichymotrypsin polymorphism." Nature Genetics 10(4):486-488.
Kameoka, K., Isotani, H., Tanaka, K., Azukari, K., Fujimura, Y., Shiota, Y., Sasaki, E., Majima, M., Furukawa, K., Haginomori, S., Kitaoka, H. and Ohsawa, N. (1998). "Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes." Biochemical & Biophysical Research Communications 245(2):523-527.
Kameoka, K., Isotani, H., Tanaka, K., Kitaoka, H. and Ohsawa, N. (1998). "Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys) [letter]." Diabetes Care 21(11):2034-2035.
Kamimura, N., Ishii, S., Ma, L. D. and Shay, J. W. (1989). "Three separate mitochondrial DNA sequences are contiguous in human genomic DNA." J Mol Biol 210(4):703-707.
Kamiya, J. and Aoki, Y. (2003). "Associations between hyperglycaemia and somatic transversion mutations in mitochondrial DNA of people with diabetes mellitus." Diabetologia 46(11):1559-1566.
Kamo, N., Muratsugu, M., Hongoh, R. and Kobatake, Y. (1979). "Membrane potential of mitochondria measured with an electrode sensitive to tetraphenyl phosphonium and relationship between proton electrochemical potential and phosphorylation potential in steady state." Journal of Membrane Biology 49(2):105-121.
Kanamori, A., Tanaka, K., Umezawa, S., Matoba, K., Fujita, Y. and Yajima, Y. (1995). "Response to Walker et al. (Insulin sensitivity and mitochondrial gene mutation)." Diabetes Care 18(2):274-275.
Kanamori, A., Tanaka, K., Umezawa, S., Matoba, K., Fujita, Y., Iizuka, T. and Yajima, Y. (1994). "Insulin resistance in mitochondrial gene mutation." Diabetes Care 17(7):778-779.
Kaneda, H., Hayashi, J., Takahama, S., Taya, C., Lindahl, K. F. and Yonekawa, H. (1995). "Elimination of paternal mitochondrial DNA in intraspecific crosses during early mouse embryogenesis." Proceedings of the National Academy of Sciences of the United States of America 92(10):4542-4546.
Kang, B. Y., Choi, H., Kwon, J. and Lee, J. K. (2010). "The 5178C/A and 16189T/C polymorphisms of mitochondrial DNA in Korean men and their associations with blood iron metabolism." Molecular Biology Reports 37(8):4051-4057.
Kang, E., Koski, A., Amato, P., Temiakov, D. and Mitalipov, S. (2019). "Reply to: Reversion after replacement of mitochondrial DNA [Hudson et al. 2019. doi.org/10.1038/s41586-019-1623-3]." Nature 574(7778):E12-E13.
Kang, E., Wu, J., Gutierrez, N. M., Koski, A., Tippner-Hedges, R., et al. (2016). "Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations." Nature 540(7632):270-275; author correction at doi.org/210.1038/s41586-41019-40876-41581
Kang, L., Zheng, H. X., Chen, F., Yan, S., Liu, K., Qin, Z., Liu, L., Zhao, Z., Li, L., Wang, X., He, Y. and Jin, L. (2013). "mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands." Molecular Biology and Evolution 30(12):2579-2587.
Kang, L., Zheng, H. X., Zhang, M., Yan, S., Li, L., Liu, L., Liu, K., Hu, K., Chen, F., Ma, L., Qin, Z., Wang, Y., Wang, X. and Jin, L. (2016). "MtDNA analysis reveals enriched pathogenic mutations in Tibetan highlanders." Scientific Reports 6:31083.
Kang, Y. J., Chen, Y. and Epstein, P. N. (1996). "Suppression of doxorubicin cardiotoxicity by overexpression of catalase in the heart of transgenic mice." Journal of Biological Chemistry 271(21):12610-12616.
Kao, S. H., Chao, H. T. and Wei, Y. H. (1998). "Multiple deletions of mitochondrial DNA are associated with the decline of motility and fertility of human spermatozoa." Molecular Human Reproduction 4(7):657-666.
Kao, S., Chao, H. T. and Wei, Y. H. (1995). "Mitochondrial deoxyribonucleic acid 4977-bp deletion is associated with diminished fertility and motility of human sperm." Biology of Reproduction 52(4):729-736.
Kaplan, R. S., Mayor, J. A. and Wood, D. O. (1993). "The mitochondrial tricarboxylate transport protein. cDNA cloning, primary structure, and comparison with other mitochondrial transport proteins." Journal of Biological Chemistry 268(18):13682-13690.
Kaplitt, M. G., Xiao, X., Samulski, R. J., Li, J., Ojamaa, K., Klein, I. L., Makimura, H., Kaplitt, M. J., Strumpf, R. K. and Diethrich, E. B. (1996). "Long-term gene transfer in porcine myocardium after coronary infusion of an adeno-associated virus vector." Annals of Thoracic Surgery 62(6):1669-1676.
Kapnick, S. M., Pacheco, S. E. and McGuire, P. J. (2018). "The emerging role of immune dysfunction in mitochondrial diseases as a paradigm for understanding immunometabolism." Metabolism 81:97-112.
Kapsa, R. M., Quigley, A. F., Han, T. F., Jean-Francois, M. J., Vaughan, P. and Byrne, E. (1998). "mtDNA replicative potential remains constant during ageing: polymerase gamma activity does not correlate with age related cytochrome oxidase activity decline in platelets." Nucleic Acids Research 26(19):4365-4373.
Kapsa, R., Siregar, N., Quigley, A., Ojaimi, J., Katsabanis, S., Sue, C. and Byrne, E. (1997). "The polymerase chain reaction in the study of mitochondrial genetics." Journal of Biochemical & Biophysical Methods 36(1):31-50.
Kapsa, R., Thompson, G. N., Thorburn, D. R., Dahl, H. H., Marzuki, S., Byrne, E. and Blok, R. B. (1994). "A novel mtDNA deletion in an infant with Pearson syndrome." Journal of Inherited Metabolic Disease 17(5):521-526.
Karaarslan, C. (2019). "Leber's hereditary optic neuropathy as a promising disease for gene therapy development." Advances in Therapy 36(12):3299-3307.
Karadimas, C. L., Salviati, L., Sacconi, S., Chronopoulou, P., Shanske, S., Bonilla, E., De Vivo, D. C. and DiMauro, S. (2002). "Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA." Neuromuscular Disorders 12(9):865-868.
Karanjia, R., Berezovsky, A., Sacai, P. Y., Cavascan, N. N., Liu, H. Y., et al. (2017). "The photopic negative response: an objective measure of retinal ganglion cell function in patients with Leber's hereditary optic neuropathy." Investigative Ophthalmology and Visual Science 58(6):BIO300-BIO306.
Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alfoldi, J., et al. (2020). "The mutational constraint spectrum quantified from variation in 141,456 humans." Nature 581(7809):434-443.
Kareem, M. A., Abdulzahra, A. I., Hameed, I. H. and Jebor, M. A. (2016). "A new polymorphic positions discovered in mitochondrial DNA hypervariable region HVIII from central and north-central of Iraq." Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis 27(5):3250-3254.
Karicheva, O. Z., Kolesnikova, O. A., Schirtz, T., Vysokikh, M. Y., Mager-Heckel, A. M., Lombes, A., Boucheham, A., Krasheninnikov, I. A., Martin, R. P., Entelis, N. and Tarassov, I. (2011). "Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria." Nucleic Acids Research 39(18):8173-8186.
Karin, M. and Richards, R. I. (1982). "Human metallothionein genes--primary structure of the metallothionein-II gene and a related processed gene." Nature 299(5886):797-802.
Kariya, S., Hirano, M., Furiya, Y. and Ueno, S. (2005). "Effect of humanin on decreased ATP levels of human lymphocytes harboring A3243G mutant mitochondrial DNA". Neuropeptides 39(2):97-101.
Kariya, S., Takahashi, N., Hirano, M. and Ueno, S. (2003). "Humanin improves impaired metabolic activity and prolongs survival of serum-deprived human lymphocytes." Molecular and Cellular Biochemistry 254(1-2):83-89.
Karlin, S. and Campbell, A. M. (1994). "Which bacterium is the ancestor of the animal mitochondrial genome?" Proceedings of the National Academy of Sciences of the United States of America 91(26):12842-12846.
Karp, L., Weizman, A., Tyano, S. and Gavish, M. (1989). "Examination stress, platelet peripheral benzodiazepine binding sites, and plasma hormone levels." Life Sciences 44(16):1077-1082.
Karpati, G. (1990). "The principles and practice of myoblast transfer." Advances in Experimental Medicine & Biology 280:69-74.
Karppa, M., Herva, R., Moslemi, A. R., Oldfors, A., Kakko, S. and Majamaa, K. (2005). "Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA." Brain 128(Pt 8):1861-1869.
Karppa, M., Kytovuori, L., Saari, M. and Majamaa, K. (2018). "Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype." BMC Neurology 18(1):149.
Karppa, M., Mahjneh, I., Karttunen, A., Tolonen, U. and Majamaa, K. (2004). "Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G." Journal of Neurology 251(5):556-563.
Karppa, M., Syrjala, P., Tolonen, U. and Majamaa, K. (2003). "Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA." Journal of Neurology 250(2):216-221.
Kasamatsu, H., Robberson, D. L. and Vinograd, J. (1971). "A novel closed-circular mitochondrial DNA with properties of a replicating intermediate." Proceedings of the National Academy of Sciences of the United States of America 68(9):2252-2257.
Katagiri, H., Asano, T., Ishihara, H., Inukai, K., Anai, M., Yamanouchi, T., Tsukuda, K., Kikuchi, M., Kitaoka, H., Ohsawa, N., Yazaki, Y. and Oka, Y. (1994). " Mitochondrial diabetes mellitus: prevalence and clinical characterization of diabetes due to mitochondrial tRNALeu(UUR) gene mutation in Japanese patients." Diabetologia 37(5):504-510.
Kataoka, H. and Biswas, C. (1991). "Nucleotide sequence of a cDNA for the alpha subunit of human mitochondrial ATP synthase." Biochimica et Biophysica Acta 1089(3):393-395.
Kataoka, Y., Sugaya, A., Maeda, Y., Kariya, S., Omichi, R., Fukushima, K. and Nishizaki, K. (2017). "Genetic counseling of a hearing-impaired patient with multiple genetic mutations." Nihon Jibiinkoka Gakkai Kaiho 120(2):131-136.
Katayama, M., Tanaka, M., Yamamoto, H., Ohbayashi, T., Nimura, Y. and Ozawa, T. (1991). "Deleted mitochondrial DNA in the skeletal muscle of aged individuals." Biochemistry International 25(1):47-56.
Kato, C., Umekage, T., Tochigi, M., Otowa, T., Hibino, H., Ohtani, T., Kohda, K., Kato, N. and Sasaki, T. (2004). "Mitochondrial DNA polymorphisms and extraversion." American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics 128B(1):76-79.
Kato, M., Nakamura, M., Ichiba, M., Tomiyasu, A., Shimo, H., Higuchi, I., Ueno, S. and Sano, A. (2011). "Mitochondrial DNA deletion mutations in patients with neuropsychiatric symptoms". Neuroscience Research 69(4):331-336.
Kato, T. (2006). "The role of mitochondrial dysfunction in bipolar disorder." Drug News and Perspectives 19(10):597-602.
Kato, T. (2008). "Role of mitochondrial DNA in calcium signaling abnormality in bipolar disorder." Cell Calcium 44(1):92-102.
Kato, T. M., Kubota-Sakashita, M., Fujimori-Tonou, N., Saitow, F., Fuke, S., Masuda, A., Itohara, S., Suzuki, H. and Kato, T. (2018). "Ant1 mutant mice bridge the mitochondrial and serotonergic dysfunctions in bipolar disorder." Molecular Psychiatry 23(10):2039-2049.
Kato, T., Kunugi, H., Nanko, S. and Kato, N. (2001). "Mitochondrial DNA polymorphisms in bipolar disorder." Journal of Affective Disorders 62(3):151-164.
Kato, T., Nishigaki, Y., Noguchi, Y., Ueno, H., Hosoya, H., Ito, T., Kimura, Y., Kitamura, K. and Tanaka, M. (2010). "Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss". Journal of Human Genetics 55(3):147-154.
Kato, T., Stine, O. C., McMahon, F. J. and Crowe, R. R. (1997). "Increased levels of a mitochondrial DNA deletion in the brain of patients with bipolar disorder." Biological Psychiatry 42(10):871-875.
Kato, T., Takahashi, S., Shioiri, T., Murashita, J., Hamakawa, H. and Inubushi, T. (1994). "Reduction of brain phosphocreatine in bipolar II disorder detected by phosphorus-31 magnetic resonance spectroscopy." Journal of Affective Disorders 31(2):125-133.
Kato, T., Winokur, G., McMahon, F. J., DePaulo, J. R. and Crowe, R. R. (1997). "Quantitative analysis of leukocyte mitochondrial DNA deletion in affective disorders." Biological Psychiatry 42(5):311-316.
Kato, Y., Miura, Y., Inagaki, A., Itatsu, T. and Oiso, Y. (2002). "Age of onset possibly associated with the degree of heteroplasmy in two male siblings with diabetes mellitus having an A to G transition at 3243 of mitochondrial DNA." Diabetic Medicine 19(9):784-786.
Kato, Z., Fukuda, S., Tomatsu, S., Vega, H., Yasunaga, T., Yamagishi, A., Yamada, N., Valencia, A., Barrera, L. A., Sukegawa, K., Orii, T. and Kondo, N. (1997). "A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA." Human Genetics 101(1):97-101.
Katoh, T., Mano, S., Ikuta, T., Munkhbat, B., Tounai, K., Ando, H., Munkhtuvshin, N., Imanishi, T., Inoko, H. and Tamiya, G. (2002). "Genetic isolates in East Asia: a study of linkage disequilibrium in the X chromosome." American Journal of Human Genetics 71(2):395-400.
Katrangi, E., D'Souza, G., Boddapati, S. V., Kulawiec, M., Singh, K. K., Bigger, B. and Weissig, V. (2007). "Xenogenic transfer of isolated murine mitochondria into human rho0 cells can improve respiratory function." Rejuvenation Research 10(4):561-570.
Katsumata, K., Hayakawa, M., Tanaka, M., Sugiyama, S. and Ozawa, T. (1994). "Fragmentation of human heart mitochondrial DNA associated with premature aging." Biochemical and Biophysical Research Communications 202(1):102-110.
Katulanda, P., Groves, C. J., Barrett, A., Sheriff, R., Matthews, D. R., McCarthy, M. I. and Gloyn, A. L. (2008). "Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka." Diabetic Medicine 25(3):370-374.
Katz, Y., Weizman, R., Weizman, A. and Gavish, M. (1992). "Disulfiram and diethyldithiocarbamate are competitive inhibitors at the peripheral benzodiazepine receptor." Journal of Pharmacology and Experimental Therapeutics 262(1):394-397.
Kaufmann, P., Engelstad, K., Wei, Y., Jhung, S., Sano, M. C., Shungu, D. C., Millar, W. S., Hong, X., Gooch, C. L., Mao, X., Pascual, J. M., Hirano, M., Stacpoole, P. W., DiMauro, S. and De Vivo, D. C. (2006). "Dichloroacetate causes toxic neuropathy in MELAS: A randomized, controlled clinical trial." Neurology 66(3):324-330.
Kaufmann, P., Engelstad, K., Wei, Y., Kulikova, R., Oskoui, M., Sproule, D. M., Battista, V., Koenigsberger, D. Y., Pascual, J. M., Shanske, S., Sano, M., Mao, X., Hirano, M., Shungu, D. C., Dimauro, S. and De Vivo, D. C. (2011). "Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype." Neurology 77(22):1965-1971.
Kaufmann, P., Koga, Y., Shanske, S., Hirano, M., DiMauro, S., King, M. P. and Schon, E. A. (1996). "Mitochondrial DNA and RNA processing in MELAS." Annals of Neurology 40(2):172-180.
Kaufmann, P., Shungu, D. C., Sano, M. C., Jhung, S., Engelstad, K., Mitsis, E., Mao, X., Shanske, S., Hirano, M., DiMauro, S. and De Vivo, D. C. (2004). "Cerebral lactic acidosis correlates with neurological impairment in MELAS." Neurology 62(8):1297-1302.
Kaukonen, J. A., Amati, P., Suomalainen, A., Rotig, A., Piscaglia, M. G., Salvi, F., Weissenbach, J., Fratta, G., Comi, G., Peltonen, L. and Zeviani, M. (1996). "An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p." American Journal of Human Genetics 58(4):763-769.
Kaukonen, J., Amati, P., Suomalainen, A., Rotig, A., Antozzi, C., Salvi, F., Weissenbach, J., Peltonen, L. and Zeviani, M. (1995). "Identification of a second autosomal locus predisposing to multiple deletions of mitochondrial DNA." American Journal of Human Genetics 57(4):A216 (abstract 1246).
Kaukonen, J., Juselius, J. K., Tiranti, V., Kyttala, A., Zeviani, M., Comi, G. P., Keranen, S., Peltonen, L. and Suomalainen, A. (2000). "Role of adenine nucleotide translocator 1 in mtDNA maintenance." Science 289(5480):782-785.
Kaukonen, J., Zeviani, M., Comi, G. P., Piscaglia, M. G., Peltonen, L. and Suomalainen, A. (1999). "A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia." American Journal of Human Genetics 65(1):256-261.
Kaul, S. C., Wadhwa, R., Matsuda, Y., Hensler, P. J., Pereira-Smith, O. M., Komatsu, Y. and Mitsui, Y. (1995). "Mouse and human chromosomal assignments of mortalin, a novel member of the murine hsp70 family of proteins." FEBS Letters 361(2-3):269-272.
Kaul, S., Fishbein, M. C. and Siegel, R. J. (1991). "Cardiac manifestations of acquired immune deficiency syndrome: a 1991 update." American Heart Journal 122(2):535-544.
Kauppila, J. H. and Stewart, J. B. (2015). "Mitochondrial DNA: Radically free of free-radical driven mutations." Biochimica et Biophysica Acta 1847(11):1354-1361.
Kauppila, J. H. K., Baines, H. L., Bratic, A., Simard, M. L., Freyer, C., Mourier, A., Stamp, C., Filograna, R., Larsson, N. G., Greaves, L. C. and Stewart, J. B. (2016). "A phenotype-driven approach to generate mouse models with pathogenic mtDNA mutations causing mitochondrial disease." Cell Reports 16(11):2980-2990.
Kaur, I., Roy, S., Chakrabarti, S., Sarhadi, V. K., Majumder, P. P., Bhanwer, A. J. and Singh, J. R. (2002). "Genomic diversities and affinities among four endogamous groups of Punjab (India) based on autosomal and mitochondrial DNA polymorphisms." Human Biology 74(6):819-836.
Kawahara, H., Fukura, M., Tsuchishima, M. and Takase, S. (2007). "Mutation of mitochondrial DNA in livers from patients with alcoholic hepatitis and nonalcoholic steatohepatitis." Alcoholism, Clinical and Experimental Research 31(1 Suppl):S54-60.
Kawai, H., Akaike, M., Yokoi, K., Nishida, Y., Kunishige, M., Mine, H. and Saito, S. (1995). "Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases." Muscle and Nerve 18(7):753-760.
Kawakami, Y., Sakuta, R., Hashimoto, K., Fujino, O., Fujita, T., Hida, M., Horai, S., Goto, Y. and Nonaka, I. (1994). "Mitochondrial myopathy with progressive decrease in mitochondrial tRNALeu(UUR) mutant genomes." Annals of Neurology 35(3):370-373.
Kawarai, T., Kawakami, H., Kozuka, K., Izumi, Y., Matsuyama, Z., Watanabe, C., Kohriyama, T. and Nakamura, S. (1997). "A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G." Neurology 49(2):598-600.
Kawazoe, T., Tobisawa, S., Sugaya, K., Uruha, A., Miyamoto, K., Komori, T., Goto, Y. I., Nishino, I., Yoshihashi, H., Mizuguchi, T., Matsumoto, N., Egawa, N., Kawata, A. and Isozaki, E. (2022). "Myoclonic epilepsy with ragged-red fibers with intranuclear inclusions." Internal Medicine 61(4):547-552.
Kayser, M. (2010). "The human genetic history of Oceania: near and remote views of dispersal." Current Biology 20(4):R194-201.
Kayser, M., Brauer, S., Schadlich, H., Prinz, M., Batzer, M. A., Zimmerman, P. A., Boatin, B. A. and Stoneking, M. (2003). "Y chromosome STR haplotypes and the genetic structure of U.S. populations of African, European, and Hispanic ancestry." Genome Research 13(4):624-634.
Kayser, M., Brauer, S., Weiss, G., Schiefenhovel, W., Underhill, P. A. and Stoneking, M. (2001). "Independent histories of human Y chromosomes from Melanesia and Australia." American Journal of Human Genetics 68(1):173-190.
Kazuno, A. A., Munakata, K., Kato, N. and Kato, T. (2008). "Mitochondrial DNA-dependent effects of valproate on mitochondrial calcium levels in transmitochondrial cybrids." The International Journal of Neuropsychopharmacology 11(1):71-78.
Kazuno, A. A., Munakata, K., Mori, K., Tanaka, M., Nanko, S., Kunugi, H., Umekage, T., Tochigi, M., Kohda, K., Sasaki, T., Akiyama, T., Washizuka, S., Kato, N. and Kato, T. (2005). "Mitochondrial DNA sequence analysis of patients with 'atypical psychosis'." Psychiatry Clin Neurosci 59(4):497-503.
Kazuno, A. A., Munakata, K., Nagai, T., Shimozono, S., Tanaka, M., Yoneda, M., Kato, N., Miyawaki, A. and Kato, T. (2006). "Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics." PLoS Genetics 2(8):e128.
Ke, Y., Su, B., Song, X., Lu, D., Chen, L., Li, H., Qi, C., Marzuki, S., Deka, R., Underhill, P., Xiao, C., Shriver, M., Lell, J., Wallace, D., Wells, R. S., Seielstad, M., Oefner, P., Zhu, D., Jin, J., Huang, W., Chakraborty, R., Chen, Z. and Jin, L. (2001). "African origin of modern humans in East Asia: a tale of 12,000 Y chromosomes." Science 292(5519):1151-1153.
Kazuno, A. A., Munakata, K., Tanaka, M., Kato, N. and Kato, T. (2008). "Relationships between mitochondrial DNA subhaplogroups and intracellular calcium dynamics." Mitochondrion 8(2):164-169.
Kearns, T. P. and Sayre, G. P. (1958). "Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: unusual syndrome with histologic study in one of two cases." AMA Archives of Ophthalmology 60(2):280-289.
Kearsey, S. E. and Craig, I. W. (1981). "Altered ribosomal RNA genes in mitochondria from mammalian cells with chloramphenicol resistance." Nature 290(5807):607-608.
Keating, M. T. and Sanguinetti, M. C. (1996). "Molecular genetic insights into cardiovascular disease." Science 272(5262):681-685.
Keefe, D. L., Niven-Fairchild, T., Powell, S. and Buradagunta, S. (1995). "Mitochondrial deoxyribonucleic acid deletions in oocytes and reproductive aging in women." Fertility and Sterility 64(3):577-583.
Keeney, P. M., Quigley, C. K., Dunham, L. D., Papageorge, C. M., Iyer, S., Thomas, R. R., Schwarz, K. M., Trimmer, P. A., Khan, S. M., Portell, F. R., Bergquist, K. E. and Bennett, J. P., Jr. (2009). "Mitochondrial gene therapy augments mitochondrial physiology in a Parkinson's disease cell model." Human Gene Therapy 20(8):897-907.
Keightley, J. A., Anitori, R., Burton, M. D., Quan, F., Buist, N. R. and Kennaway, N. G. (2000). "Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene." American Journal of Human Genetics 67(6):1400-1410.
Keightley, J. A., Hoffbuhr, K. C., Burton, M. D., Salas, V. M., Johnston, W. S., Penn, A. M., Buist, N. R. and Kennaway, N. G. (1996). "A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria." Nature Genetics 12(4):410-416.
Keith, J. M., Cochran, D. A., Lala, G. H., Adams, P., Bryant, D. and Mitchelson, K. R. (2004). "Unlocking hidden genomic sequence." Nucleic Acids Research 32(3):e35.
Kellar-Wood, H., Robertson, N., Govan, G. G., Compston, D. A. and Harding, A. E. (1994). "Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis." Annals of Neurology 36(1):109-112.
Kelley, S. O., Steinberg, S. V. and Schimmel, P. (2000). "Functional defects of pathogenic human mitochondrial tRNAs related to structural fragility." Nature Structural Biology 7(10):862-865.
Kelley, S. O., Steinberg, S. V. and Schimmel, P. (2001). "Fragile T-stem in disease-associated human mitochondrial tRNA sensitizes structure to local and distant mutations." Journal of Biological Chemistry 276(14):10607-10611.
Kelly, T. M., Stachula, S. A., Raetz, C. R. and Anderson, M. S. (1993). "The firA gene of Escherichia coli encodes UDP-3-O-(R-3- hydroxymyristoyl)-glucosamine N-acyltransferase. The third step of endotoxin biosynthesis." Journal of Biological Chemistry 268(26):19866-19874.
Kemp, J. P., Smith, P. M., Pyle, A., Neeve, V. C., Tuppen, H. A., Schara, U., Talim, B., Topaloglu, H., Holinski-Feder, E., Abicht, A., Czermin, B., Lochmuller, H., McFarland, R., Chinnery, P. F., Chrzanowska-Lightowlers, Z. M., Lightowlers, R. N., Taylor, R. W. and Horvath, R. (2011). "Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency." Brain 134(Pt 1):183-195.
Kempken, F., Howard, W. and Pring, D. R. (1998). "Mutations at specific atp6 codons which cause human mitochondrial diseases also lead to male sterility in a plant." FEBS Letters 441(2):159-160.
Keng, W. T., Pilz, D. T., Minns, B. and FitzPatrick, D. R. (2003). "A3243G mitochondrial mutation associated with polymicrogyria." Developmental Medicine and Child Neurology. 45(10):704-708.
Kennaway, N. G., Burton, M. D., Hall, R. E., Johnston, W. S. W., Keightley, J. A., Salas, V. M. and Tindle, N. A. (1994). "Mitochondrial myopathy and cytochrome c oxidase (COX) deficiency associated with a 15 bp deletion in the gene for COX subunit III." Neurology 44 Suppl 2(4):A335, abstract 827S.
Kennaway, N. G., Keightley, J. A., Burton, M. D., Quan, F., Libby, B. D. and Buist, N. M. R. (1998). "Mitochondrial encephalomyopathy associated with a nonsense mutation in the cytochrome b (Abstract). In: UCSD Mitochondrial Medicine Conference. San Diego, California, USA. February 19-21, 1998." Molecular Genetics and Metabolism 63(1):49.
Kennaway, N. G., Keightley, J. A., Burton, M., Hoffbuhr, K. and Buist, N. R. M. (1995). "Single fiber analysis of muscle from a patient with a microdeletion in the gene for cytochrome c oxidase (COX) subunit III. Abstract FC084." EUROMIT III, Third International Meeting on Human Mitochondrial Pathology, Chantilly, France:64.
Kenney, M. C., Chwa, M., Atilano, S. R., Falatoonzadeh, P., Ramirez, C., Malik, D., Tarek, M., Caceres-Del-Carpio, J., Nesburn, A. B., Boyer, D. S., Kuppermann, B. D., Vawter, M., Michal Jazwinski, S., Miceli, M., Wallace, D. C. and Udar, N. (2014). "Inherited mitochondrial DNA variants can affect complement, inflammation and apoptosis pathways: insights into mitochondrial-nuclear interactions." Human Molecular Genetics 23(13):3537-3551.
Kenney, M. C., Chwa, M., Atilano, S. R., Falatoonzadeh, P., Ramirez, C., Malik, D., Tarek, M., Del Carpio, J. C., Nesburn, A. B., Boyer, D. S., Kuppermann, B. D., Vawter, M. P., Jazwinski, S. M., Miceli, M. V., Wallace, D. C. and Udar, N. (2014). "Molecular and bioenergetic differences between cells with African versus European inherited mitochondrial DNA haplogroups: Implications for population susceptibility to diseases". Biochimica et Biophysica Acta 1842(2):208-219.
Kent, L., Gallagher, L., Elliott, H. R., Mowbray, C. and Chinnery, P. F. (2008). "An investigation of mitochondrial haplogroups in autism." American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics 147B(6):987-989.
Kenvin, S., Torregrosa-Munumer, R., Reidelbach, M., Pennonen, J., Turkia, J. J., Rannila, E., Kvist, J., Sainio, M. T., Huber, N., Herukka, S. K., Haapasalo, A., Auranen, M., Trokovic, R., Sharma, V., Ylikallio, E. and Tyynismaa, H. (2022). "Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism." Human Molecular Genetics 31(6):958-974.
Keogh, M. J. and Chinnery, P. F. (2015). "Mitochondrial DNA mutations in neurodegeneration." Biochimica et Biophysica Acta 1847(11):1401-1411.
Kern, A. D. and Kondrashov, F. A. (2004). "Mechanisms and convergence of compensatory evolution in mammalian mitochondrial tRNAs." Nature Genetics 36(11):1207-1212.
Kerr, D. S. (1997). "Protean manifestations of mitochondrial diseases: a minireview." Journal of Pediatric Hematology/Oncology 19(4):279-286.
Kerr, D. S. (2010). "Treatment of mitochondrial electron transport chain disorders: a review of clinical trials over the past decade." Molecular Genetics and Metabolism 99(3):246-255.
Kerrison, J. B. and Newman, N. J. (1997). "Clinical spectrum of Leber's hereditary optic neuropathy." Clinical Neuroscience 4(5):295-301.
Kerrison, J. B., Biousse, V. and Newman, N. J. (2000). "Retinopathy of NARP syndrome." Archives of Ophthalmology 118(2):298-299.
Kerrison, J. B., Miller, N. R., Hsu, F., Beaty, T. H., Maumenee, I. H., Smith, K. H., Savino, P. J., Stone, E. M. and Newman, N. J. (2000). "A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy." American Journal of Ophthalmology 130(6):803-812.
Kervinen, M., Hinttala, R., Helander, H. M., Kurki, S., Uusimaa, J., Finel, M., Majamaa, K. and Hassinen, I. E. (2006). "The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I". Human Molecular Genetics 15(17):2543-2552.
Keyeux, G., Rodas, C., Gelvez, N. and Carter, D. (2002). "Possible migration routes into South America deduced from mitochondrial DNA studies in Colombian Amerindian populations." Human Biology 74(2):211-233.
Keyser-Tracqui, C., Crubezy, E. and Ludes, B. (2003). "Nuclear and mitochondrial DNA analysis of a 2,000-year-old necropolis in the Egyin Gol Valley of Mongolia." American Journal of Human Genetics 73(2):247-260.
Khalimonchuk, O. and Rodel, G. (2005). "Biogenesis of cytochrome c oxidase." Mitochondrion 5(6):363-388.
Khan, M. I., Ahmad, H., Xue, H. and Mat, F. (2019). "Novel prevalent mutations in mitochondrial MTRNR1 gene in deaf population of Khyber Pakhtunkhwa, Pakistan." In preparation. Corresponding author: Muhammad Ismail Khan, ismail_genetics@hu.edu.pk
Khan, N. A., Govindaraj, P., Meena, A. K. and Thangaraj, K. (2015). "Mitochondrial disorders: challenges in diagnosis and treatment." The Indian Journal of Medical Research 141(1):13-26.
Khan, N. A., Govindaraj, P., Soumittra, N., Sharma, S., Srilekha, S., Ambika, S., Vanniarajan, A., Meena, A. K., Uppin, M. S., Sundaram, C., Bindu, P. S., Gayathri, N., Taly, A. B. and Thangaraj, K. (2017). "Leber's hereditary optic neuropathy-specific mutation m.11778G>A exists on diverse mitochondrial haplogroups in India." Investigative Ophthalmology and Visual Science 58(10):3923-3930.
Khan, N. A., Govindaraj, P., Soumittra, N., Srilekha, S., Ambika, S., Vanniarajan, A., Meena, A. K., Uppin, M. S., Sundaram, C., Taly, A. B., Bindu, P. S., Gayathri, N. and Thangaraj, K. (2013). "Haplogroup heterogeneity of LHON patients carrying the m.14484T>C mutation in India". Investigative Ophthalmology and Visual Science 54(6):3999-4005.
Khasawneh, R., Alsokhni, H., Alzghoul, B., Momani, A., Abualsheikh, N., Kamal, N. and Qatawneh, M. (2018). "A novel mitochondrial DNA deletion in patient with Pearson syndrome." Medical Archives 72(2):148-150.
Khodjakov, A., Rieder, C., Mannella, C. A. and Kinnally, K. W. (2004). "Laser micro-irradiation of mitochondria: is there an amplified mitochondrial death signal in neural cells?" Mitochondrion 3(4):217-227.
Khogali, S. S., Mayosi, B. M., Beattie, J. M., McKenna, W. J., Watkins, H. and Poulton, J. (2001). "A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations." Lancet 357(9264):1265-1267.
Khoo, A., Naidu, S., Wijayendran, S. B., Merve, A., Bremner, F. and Sidhu, M. K. (2021). "Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C." BMJ Neurology Open 3(1):e000180.
Khrapko, K. (2011). "The timing of mitochondrial DNA mutations in aging". Nature Genetics 43(8):726-727.
Khrapko, K., Bodyak, N., Thilly, W. G., van Orsouw, N. J., Zhang, X., Coller, H. A., Perls, T. T., Upton, M., Vijg, J. and Wei, J. Y. (1999). "Cell-by-cell scanning of whole mitochondrial genomes in aged human heart reveals a significant fraction of myocytes with clonally expanded deletions." Nucleic Acids Research 27(11):2434-2441.
Khrapko, K., Coller, H. A., Andre, P. C., Li, X. C., Hanekamp, J. S. and Thilly, W. G. (1997). "Mitochondrial mutational spectra in human cells and tissues." Proceedings of the National Academy of Sciences of the United States of America 94(25):13798-13803.
Khrapko, K., Ebralidse, K. and Kraytsberg, Y. (2004). "Where and when do somatic mtDNA mutations occur?" Annals of the New York Academy of Sciences 1019:240-244.
Khrapko, K., Nekhaeva, E., Kraytsberg, Y. and Kunz, W. (2003). "Clonal expansions of mitochondrial genomes: implications for in vivo mutational spectra." Mutation Research 522(1-2):13-19.
Khusnutdinova, E. K., Fatkhlislamova, R. I., Khidiiatova, I. M., Viktorova, T. V. and Grinchuk, O. V. (1997). "[Restriction-deletion polymorphism of the mitochondrial DNA V-region in populations from the Volga-Ural region]." Genetika 33(7):996-1000.
Khusnutdinova, E., Gilyazova, I., Ruiz-Pesini, E., Derbeneva, O., Khusainova, R., Khidiyatova, I., Magzhanov, R. and Wallace, D. C. (2008). "A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease." Annals of the New York Academy of Sciences 1147:1-20.
Kiechl, S., Horvath, R., Luoma, P., Kiechl-Kohlendorfer, U., Wallacher-Scholz, B., Stucka, R., Thaler, C., Wanschitz, J., Suomalainen, A., Jaksch, M. and Willeit, J. (2004). "Two families with autosomal dominant progressive external ophthalmoplegia." Journal of Neurology, Neurosurgery and Psychiatry 75(8):1125-1128.
Kilic, M., Sivri, H. S., Dursun, A., Tokatli, A., De Meirleir, L., Seneca, S., Akcoren, Z., Yigit, S., Topaloglu, H. and Coskun, T. (2011). "A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome". The Turkish Journal of Pediatrics 53(1):79-82.
Kim, J. H., Park, K. S., Cho, Y. M., Kang, B. S., Kim, S. K., Jeon, H. J., Kim, S. Y. and Lee, H. K. (2002). "The prevalence of the mitochondrial DNA 16189 variant in non-diabetic Korean adults and its association with higher fasting glucose and body mass index." Diabetic Medicine 19(8):681-684.
Kim, J. W., Lee, Y., Kang, H. B., Chose, Y. K., Chung, T. W., Chang, S. Y., Lee, K. S. and Choe, I. S. (1997). "Cloning of the human cDNA sequence encoding the NADH:ubiquinone oxidoreductase MLRQ subunit." Biochemistry and Molecular Biology International (Sydney) 43(3):669-675.
Kim, J. Y., Hwang, J. M. and Park, S. S. (2002). "Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis." Annals of Neurology 51(5):630-634.
Kim, J. Y., Hwang, J. M., Chang, B. L. and Park, S. S. (2003). "Spectrum of the mitochondrial DNA mutations of Leber's hereditary optic neuropathy in Koreans." Journal of Neurology 250(3):278-281.
Kim, J. Y., Hwang, J. M., Ko, H. S., Seong, M. W., Park, B. J. and Park, S. S. (2005). "Mitochondrial DNA content is decreased in autosomal dominant optic atrophy." Neurology 64(6):966-972.
Kim, S. H. and Chi, J. G. (1997). "Characterization of a mitochondrial DNA deletion in patients with mitochondrial myopathy." Molecules & Cells 7(6):726-729.
Kim, S. H., Chi, J. G., Reith, A. and Kadenbach, B. (1997). "Quantitative analysis of mitochondrial DNA deletion in paraffin embedded muscle tissues from patients with KSS and CPEO." Biochimica et Biophysica Acta 1360(3):193-195.
Kim, S. K., Gignoux, C. R., Wall, J. D., Lum-Jones, A., Wang, H., Haiman, C. A., Chen, G. K., Henderson, B. E., Kolonel, L. N., Le Marchand, L., Stram, D. O., Saxena, R. and Cheng, I. (2012). "Population genetic structure and origins of Native Hawaiians in the multiethnic cohort study". PLoS ONE 7(11):e47881.
Kim, U. S., Jurkute, N. and Yu-Wai-Man, P. (2018). "Leber hereditary optic neuropathy - light at the end of the tunnel?" Asia-Pacific Journal of Ophthalmology 7(4):242-245.
Kim, Y. L., Brown, M. D. and Wallace, D. C. (1995). "Single-strand conformation polymorphism analysis for the detection of point mutations in the mitochondrial DNA." Analytical Biochemistry 224(2):608-611.
Kim, Y. O., Oh, I. U., Park, H. S., Jeng, J., Song, B. J. and Huh, T. L. (1995). "Characterization of a cDNA clone for human NAD(+)-specific isocitrate dehydrogenase alpha-subunit and structural comparison with its isoenzymes from different species." Biochemical Journal 308(Pt 1):63-68.
Kin, T., Sugie, K., Hirano, M., Goto, Y., Nishino, I. and Ueno, S. (2006). "Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia." Journal of Human Genetics 51(6):555-558.
King, M. P. and Attardi, G. (1988). "Injection of mitochondria into human cells leads to a rapid replacement of the endogenous mitochondrial DNA." Cell 52(6):811-819.
King, M. P. and Attardi, G. (1989). "Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation." Science 246(4929):500-503.
King, M. P. and Attardi, G. (1996). "Mitochondria-mediated transformation of human rho(0) cells." Methods in Enzymology 264:313-334.
King, M. P., Koga, Y., Davidson, M. and Schon, E. A. (1992). "Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALeu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes." Molecular and Cellular Biology 12(2):480-490.
Kinnally, K. W., Zorov, D. B., Antonenko, Y. N., Snyder, S. H., McEnery, M. W. and Tedeschi, H. (1993). "Mitochondrial benzodiazepine receptor linked to inner membrane ion channels by nanomolar actions of ligands." Proceedings of the National Academy of Sciences of the United States of America 90(4):1374-1378.
Kinouchi, H., Epstein, C. J., Mizui, T., Carlson, E., Chen, S. F. and Chan, P. H. (1991). "Attenuation of focal cerebral ischemic injury in transgenic mice overexpressing CuZn superoxide dismutase." Proceedings of the National Academy of Sciences of the United States of America 88(24):11158-11162.
Kirby, D. M., Boneh, A., Chow, C. W., Ohtake, A., Ryan, M. T., Thyagarajan, D. and Thorburn, D. R. (2003). "Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease." Annals of Neurology 54(4):473-478.
Kirby, D. M., Kahler, S. G., Freckmann, M. L., Reddihough, D. and Thorburn, D. R. (2000). "Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families." Annals of Neurology 48(1):102-104.
Kirby, D. M., McFarland, R., Ohtake, A., Dunning, C., Ryan, M. T., Wilson, C., Ketteridge, D., Turnbull, D. M., Thorburn, D. R. and Taylor, R. W. (2004). "Mutations of the mitochondrial ND1 gene as a cause of MELAS." Journal of Medical Genetics 41(10):784-789.
Kirby, D. M., Salemi, R., Sugiana, C., Ohtake, A., Parry, L., Bell, K. M., Kirk, E. P., Boneh, A., Taylor, R. W., Dahl, H. H., Ryan, M. T. and Thorburn, D. R. (2004). "NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency." Journal of Clinical Investigation 114(6):837-845.
Kirby, D. M., Thorburn, D. R., Turnbull, D. M. and Taylor, R. W. (2007). "Biochemical assays of respiratory chain complex activity." Methods in Cell Biology 80:93-119.
Kirches, E., Krause, G., Warich-Kirches, M., Weis, S., Schneider, T., Meyer-Puttlitz, B., Mawrin, C. and Dietzmann, K. (2001). "High frequency of mitochondrial DNA mutations in glioblastoma multiforme identified by direct sequence comparison to blood samples." International Journal of Cancer 93(4):534-538.
Kirches, E., Mawrin, C., Schneider-Stock, R., Krause, G., Scherlach, C. and Dietzmann, K. (2003). "Mitochondrial DNA as a clonal tumor cell marker: gliomatosis cerebri." Journal of Neuro-Oncology 61(1):1-5.
Kirino, Y., Goto, Y. I., Campos, Y., Arenas, J. and Suzuki, T. (2005). "Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease." Proceedings of the National Academy of Sciences of the United States of America 102(20):7127-7132.
Kirino, Y., Yasukawa, T., Marjavaara, S. K., Jacobs, H. T., Holt, I. J., Watanabe, K. and Suzuki, T. (2006). "Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect." Human Molecular Genetics 15(6):897-904.
Kirk, R., Furlong, R. A., Amos, W., Cooper, G., Rubinsztein, J. S., Walsh, C., Paykel, E. S. and Rubinsztein, D. C. (1999). "Mitochondrial genetic analyses suggest selection against maternal lineages in bipolar affective disorder." American Journal of Human Genetics 65(2):508-518.
Kirkman, M. A., Korsten, A., Leonhardt, M., Dimitriadis, K., De Coo, I. F., Klopstock, T., Griffiths, P. G., Hudson, G., Chinnery, P. F. and Yu-Wai-Man, P. (2009). "Quality of life in patients with Leber hereditary optic neuropathy." Investigative Ophthalmology and Visual Science 50(7):3112-3315.
Kirkman, M. A., Yu-Wai-Man, P., Korsten, A., Leonhardt, M., Dimitriadis, K., De Coo, I. F., Klopstock, T. and Chinnery, P. F. (2009). "Gene-environment interactions in Leber hereditary optic neuropathy." Brain 132(Pt 9):2317-2326.
Kirkwood, T. B. (2002). "Molecular gerontology." Journal of Inherited Metabolic Disease 25(3):189-196.
Kishimoto, M., Hashiramoto, M., Kanda, F., Tanaka, M. and Kasuga, M. (1995). "Mitochondrial mutation in diabetic patient with gastrointestinal symptoms." Lancet 345(8947):452.
Kishita, Y., Ishikawa, K., Nakada, K., Hayashi, J.-I., Fushimi, T., Shimura, M., Kohda, M., Ohtake, A., Murayama, K. and Okazaki, Y. (2021). "A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome." Scientific Reports 11(1):11123.
Kislev, N., Spolsky, C. M. and Eisenstadt, J. M. (1973). "Effect of chloramphenicol on the ultrastructure of mitochondria in sensitive and resistant strains of HeLa." Journal of Cell Biology 57(2):571-579.
Kiss, C., Li, J., Szeles, A., Gizatullin, R. Z., Kashuba, V. I., Lushnikova, T., Protopopov, A. I., Kelve, M., Kiss, H., Kholodnyuk, I. D., Imreh, S., Klein, G. and Zabarovsky, E. R. (1997). "Assignment of the ARHA and GPX1 genes to human chromosome bands 3p21.3 by in situ hybridization and with somatic cell hybrids." Cytogenetics and Cell Genetics 79(3-4):228-230.
Kit, S., Dubbs, D. R., Pielarskik, L. J. and Hsu, T. S. (1963). "Deletion of thymidine kinase activity from L cells resistant to bromodeoxyuridine." Experimental Cell Research 31:297-312.
Kita, K., Oya, H., Gennis, R. B., Ackrell, B. A. and Kasahara, M. (1990). "Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of iron sulfur (Ip) subunit of liver mitochondria." Biochemical and Biophysical Research Communications 166(1):101-108.
Kitagawa, T., Suganuma, N., Nawa, A., Kikkawa, F., Tanaka, M., Ozawa, T. and Tomoda, Y. (1993). "Rapid accumulation of deleted mitochondrial deoxyribonucleic acid in postmenopausal ovaries." Biology of Reproduction 49:730-736.
Kittles, R. A., Bergen, A. W., Urbanek, M., Virkkunen, M., Linnoila, M., Goldman, D. and Long, J. C. (1999). "Autosomal, mitochondrial, and Y chromosome DNA variation in Finland: evidence for a male-specific bottleneck." American Journal of Physical Anthropology 108(4):381-399.
Kivisild, T. and Villems, R. (2000). "Questioning evidence for recombination in human mitochondrial DNA [Technical Comment #1 re: Awadalla et al 1999]." Science 288(5473):1931.
Kivisild, T., Bamshad, M. J., Kaldma, K., Metspalu, M., Metspalu, E., Reidla, M., Laos, S., Parik, J., Watkins, W. S., Dixon, M. E., Papiha, S. S., Mastana, S. S., Mir, M. R., Ferak, V. and Villems, R. (1999). "Deep common ancestry of Indian and western-Eurasian mitochondrial DNA lineages." Current Biology 9(22):1331-1334.
Kivisild, T., Reidla, M., Metspalu, E., Rosa, A., Brehm, A., Pennarun, E., Parik, J., Geberhiwot, T., Usanga, E. and Villems, R. (2004). "Ethiopian mitochondrial DNA heritage: tracking gene flow across and around the gate of tears." American Journal of Human Genetics 75(5):752-770.
Kivisild, T., Shen, P., Wall, D. P., Do, B., Sung, R., Davis, K., Passarino, G., Underhill, P. A., Scharfe, C., Torroni, A., Scozzari, R., Modiano, D., Coppa, A., de Knijff, P., Feldman, M., Cavalli-Sforza, L. L. and Oefner, P. J. (2006). "The role of selection in the evolution of human mitochondrial genomes." Genetics 172(1):373-387.
Kivisild, T., Tolk, H. V., Parik, J., Wang, Y., Papiha, S. S., Bandelt, H. J. and Villems, R. (2002). "The emerging limbs and twigs of the East Asian mtDNA tree." Molecular Biology and Evolution 19(10):1737-1751.
Kiyomoto, B. H., Tengan, C. H., Moraes, C. T., Oliveira, A. S. and Gabbai, A. A. (1997). "Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia." Journal of the Neurological Sciences 152(2):160-165.
Klaunig, J. E. and Kamendulis, L. M. (2004). "The role of oxidative stress in carcinogenesis." Annual Review of Pharmacology and Toxicology 44:239-267.
Kleefstra, T., Wortmann, S. B., Rodenburg, R. J., Bongers, E. M., Hadzsiev, K., Noordam, C., van den Heuvel, L. P., Nillesen, W. M., Hollody, K., Gillessen-Kaesbach, G., Lammens, M., Smeitink, J. A., van der Burgt, I. and Morava, E. (2011). "Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway." European Journal of Human Genetics 19(2):138-144.
Kleinle, S., Schneider, V., Moosmann, P., Brandner, S., Krahenbuhl, S. and Liechti-Gallati, S. (1998). "A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease." Biochemical & Biophysical Research Communications 247(1):112-115.
Kleinle, S., Wiesmann, U., Superti-Furga, A., Krahenbuhl, S., Boltshauser, E., Reichen, J. and Liechti-Gallati, S. (1997). "Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR." Human Genetics 100(5-6):643-650.
Klembovskii, A. I. and Sukhorukov, V. S. (1997). "[Mitochondrial insufficiency in children]." Arkhiv Patologii 59(5):3-7.
Klemm, T., Neumann, S., Trulzsch, B., Pistrosch, F., Hanefeld, M. and Paschke, R. (2001). "Search for mitochondrial DNA mutation at position 3243 in German patients with a positive family history of maternal diabetes mellitus." Experimental and Clinical Endocrinology and Diabetes 109(5):283-287.
Klink, G. V., O'Keefe, H., Gogna, A., Bazykin, G. A. and Elson, J. L. (2021). "A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations." Scientific Reports 11(1):19578.
Kliot-Fields, T., Finney, D. A. and Wiseman, A. (1983). "Purification of cybrids by fluorescence-activated cell sorting." Somatic Cell Genetics 9(3):375-389.
Klohn, P. C., Soriano, M. E., Irwin, W., Penzo, D., Scorrano, L., Bitsch, A., Neumann, H.-G. and Bernardi, P. (2003). "Early resistance to cell death and to onset of the mitochondrial permeability transition during hepatocarcinogenesis with 2-acetylaminofluorene." Proceedings of the National Academy of Sciences of the United States of America 100(17):10014-10019.
Klopstock, T., Naumann, M., Schalke, B., Bischof, F., Seibel, P., Kottlors, M., Eckert, P., Reiners, K., Toyka, K. V. and Reichmann, H. (1994). "Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA." Neurology 44(5):862-866.
Klopstock, T., Naumann, M., Seibel, P., Shalke, B., Reiners, K. and Reichmann, H. (1997). "Mitochondrial DNA mutations in multiple symmetric lipomatosis." Molecular & Cellular Biochemistry 174(1-2):271-275.
Klopstock, T., Yu-Wai-Man, P., Dimitriadis, K., Rouleau, J., Heck, S., Bailie, M., Atawan, A., Chattopadhyay, S., Schubert, M., Garip, A., Kernt, M., Petraki, D., Rummey, C., Leinonen, M., Metz, G., Griffiths, P. G., Meier, T. and Chinnery, P. F. (2011). "A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy". Brain 134(9):2677-2686.
Kloss-Brandstatter, A., Schafer, G., Erhart, G., Huttenhofer, A., Coassin, S., Seifarth, C., Summerer, M., Bektic, J., Klocker, H. and Kronenberg, F. (2010). "Somatic mutations throughout the entire mitochondrial genome are associated with elevated PSA levels in prostate cancer patients." American Journal of Human Genetics 87(6):802-812.
Klyosov, A. A. (2011). "Biological chemistry as a foundation of DNA genealogy: the emergence of "molecular history"". Biochemistry (Moscow) 76(5):517-533.
Knapp, M., Horsburgh, K. A., Prost, S., Stanton, J. A., Buckley, H. R., Walter, R. K. and Matisoo-Smith, E. A. (2012). "Complete mitochondrial DNA genome sequences from the first New Zealanders." Proceedings of the National Academy of Sciences of the United States of America 109(45):18350-18354.
Knerr, I., Metzler, M., Niemeyer, C. M., Holter, W., Gerecke, A., Baumann, I., Trollmann, R. and Repp, R. (2003). "Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA." Journal of Pediatric Hematology/Oncology 25(12):948-951.
Knight, A. (2003). "The phylogenetic relationship of Neandertal and modern human mitochondrial DNAs based on informative nucleotide sites." Journal of Human Evolution 44(5):627-632.
Knight, A., Underhill, P. A., Mortensen, H. M., Zhivotovsky, L. A., Lin, A. A., Henn, B. M., Louis, D., Ruhlen, M. and Mountain, J. L. (2003). "African Y chromosome and mtDNA divergence provides insight into the history of click languages." Current Biology 13(6):464-473.
Knight, K. M., Shelkowitz, E., Larson, A. A., Mirsky, D. M., Wang, Y., Chen, T., Wong, L. J., Friederich, M. W. and Van Hove, J. L. K. (2020). "The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome." Mitochondrion 55:8-13.
Knight, R.D., Freeland, S.J. and Landweber, L.F. (2001). "Rewiring the keyboard: evolvability of the genetic code." Nature Reviews Genetics 2(1):49-58.
Knight, R.D., Landweber, L.F. and Yarus, M. (2001). "How mitochondria redefine the code." Journal of Molecular Evolution 53(4-5):299-313.
Kobayashi, K., Oguchi, T., Asamura, K., Miyagawa, M., Horai, S., Abe, S. and Usami, S. (2005). "Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation." Auris, Nasus, Larynx 32(2):119-124.
Kobayashi, T., Nakanishi, K., Nakase, H., Kajio, H., Okubo, M., Murase, T. and Kosaka, K. (1997). "In situ characterization of islets in diabetes with a mitochondrial DNA mutation at nucleotide position 3243." Diabetes 46(10):1567-1571.
Kobayashi, Y., Ichihashi, K., Ohta, S., Nihei, K., Kagawa, Y., Yanagisawa, M. and Momoi, M. Y. (1992). "The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations." Journal of Inherited Metabolic Disease 15(5):803-808.
Kobayashi, Y., Momoi, M. Y., Tominaga, K., Momoi, T., Nihei, K., Yanagisawa, M., Kagawa, Y. and Ohta, S. (1990). "A point mutation in the mitochondrial tRNALeu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)." Biochemical and Biophysical Research Communications 173(3):816-822.
Kobayashi, Y., Momoi, M. Y., Tominaga, K., Shimoizumi, H., Nihei, K., Yanagisawa, M., Kagawa, Y. and Ohta, S. (1991). "Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNALeu(UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)." American Journal of Human Genetics 49(3):590-599.
Kobayashi, Y., Sharpe, H. and Brown, N. (1994). "Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy [letter]." American Journal of Human Genetics 55(1):206-209.
Kocaefe, Y. C., Erdem, S., Ozguc, M. and Tan, E. (2003). "Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome(MNGIE) patients." European Journal of Human Genetics 11(1):102-104.
Kodron, A., Hajieva, P., Kulicka, A., Paterczyk, B., Jankauskaite, E. and Bartnik, E. (2019). "Analysis of BNIP3 and BNIP3L/Nix expression in cybrid cell lines harboring two LHON-associated mutations." Acta Biochimica Polonica 66(4):427-435.
Koehler, C. M., Jarosch, E., Tokatlidis, K., Schmid, K., Schweyen, R. J. and Schatz, G. (1998). "Import of mitochondrial carriers mediated by essential proteins of the intermembrane space." Science 279(5349):369-373.
Koehler, C. M., Leuenberger, D., Merchant, S., Renold, A., Junne, T. and Schatz, G. (1999). "Human deafness dystonia sydrome is a mitochondrial disease." Proceedings of the National Academy of Sciences of the United States of America 96(5):2141-2146.
Koehler, C. M., Merchant, S., Oppliger, W., Schmid, K., Jarosch, E., Dolfini, L., Junne, T., Schatz, G. and Tokatlidis, K. (1998). "Tim9p, an essential partner subunit of Tim10p for the import of mitochondrial carrier proteins." Embo J 17(22):6477-6486.
Koene, S., Timmermans, J., Weijers, G., de Laat, P., de Korte, C. L., Smeitink, J. A., Janssen, M. C. and Kapusta, L. (2017). "Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? - a retrospective pilot study." Journal of Inherited Metabolic Disease 40(2):247-259.
Kofler, B., Mueller, E. E., Eder, W., Stanger, O., Maier, R., Weger, M., Haas, A., Winker, R., Schmut, O., Paulweber, B., Iglseder, B., Renner, W., Wiesbauer, M., Aigner, I., Santic, D., Zimmermann, F. A., Mayr, J. A. and Sperl, W. (2009). "Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study." BMC Medical Genetics 10:35.
Koga, A., Koga, Y., Akita, Y., Fukiyama, R., Ueki, I., Yatsuga, S. and Matsuishi, T. (2003). "Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations." Neuromuscular Disorders 13(3):259-262.
Koga, Y., Davidson, M., Schon, E. A. and King, M. P. (1993). "Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS." Nucleic Acids Research 21(3):657-662.
Koga, Y., Davidson, M., Schon, E. A. and King, M. P. (1995). "Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene." Muscle and Nerve 3(23):S119-123.
Koga, Y., Fabrizi, G. M., Mita, S., Arnaudo, E., Lomax, M. I., Aqua, M. S., Grossman, L. I. and Schon, E. A. (1990). "Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase." Nucleic Acids Research 18(3):684.
Koga, Y., Ishibashi, M., Ueki, I., Yatsuga, S., Fukiyama, R., Akita, Y. and Matsuishi, T. (2002). "Effects of L-arginine on the acute phase of strokes in three patients with MELAS." Neurology 58(5):827-828.
Koga, Y., Povalko, N., Nishioka, J., Katayama, K., Yatsuga, S. and Matsuishi, T. (2012). "Molecular pathology of MELAS and L-arginine effects". Biochimica et Biophysica Acta 1820(5):608-614.
Kogachi, K., Ter-Zakarian, A., Asanad, S., Sadun, A. and Karanjia, R. (2019). "Toxic medications in Leber's hereditary optic neuropathy." Mitochondrion 46:270-277.
Kogelnik, A. M., Lott, M. T., Brown, M. D., Navathe, S. B. and Wallace, D. C. (1996). "MITOMAP: a human mitochondrial genome database." Nucleic Acids Research 24(1):177-179.
Kogelnik, A. M., Lott, M. T., Brown, M. D., Navathe, S. B. and Wallace, D. C. (1997). "MITOMAP: an update on the status of the human mitochondrial genome database." Nucleic Acids Research 25(1):196-199.
Kogelnik, A. M., Lott, M. T., Brown, M. D., Navathe, S. B. and Wallace, D. C. (1998). "MITOMAP: a human mitochondrial genome database--1998 update." Nucleic Acids Research 26(1):112-115.
Koh, H., Park, G. S., Shin, S. M., Park, C. E., Kim, S., Han, S. J., Pham, H. Q., Shin, J. H. and Lee, D. W. (2018). "Mitochondrial mutations in cholestatic liver disease with biliary atresia." Scientific Reports 8(1):905.
Kohda, M., Tokuzawa, Y., Kishita, Y., Nyuzuki, H., Moriyama, Y., et al. (2016). "A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies." PLoS Genetics 12(1):e1005679.
Kohen, R., Yamamoto, Y., Cundy, K. C. and Ames, B. N. (1988). "Antioxidant activity of carnosine, homocarnosine, and anserine present in muscle and brain." Proceedings of the National Academy of Sciences of the United States of America 85(9):3175-3179.
Kohler, J. J., Hosseini, S. H., Green, E., Hoying-Brandt, A., Cucoranu, I., Haase, C. P., Russ, R., Srivastava, J., Ivey, K., Ludaway, T., Kapoor, V., Abuin, A., Shapoval, A., Santoianni, R., Saada, A., Elpeleg, O. and Lewis, W. (2008). "Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathy." Cardiovascular Toxicology 8(2):57-69.
Kohnemann, S., Pennekamp, P. and Pfeiffer, H. (2011). "An allelic ladder based upon reference alleles for mtDNA SNP analysis using the SNaPshot technique." Electrophoresis 32(14):1860-1863.
Kohnemann, S., Sibbing, U., Pfeiffer, H. and Hohoff, C. (2008). "A rapid mtDNA assay of 22 SNPs in one multiplex reaction increases the power of forensic testing in European Caucasians." International Journal of Legal Medicine 122(6):517-523.
Koike, K., Ohta, S., Urata, Y., Kagawa, Y. and Koike, M. (1988). "Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase." Proceedings of the National Academy of Sciences of the United States of America 85(1):41-45.
Koike, K., Urata, Y. and Koike, M. (1990). "Molecular cloning and characterization of human pyruvate dehydrogenase beta subunit gene." Proceedings of the National Academy of Sciences of the United States of America 87(15):5594-5597.
Koilkonda, R. D. and Guy, J. (2011). "Leber's hereditary optic neuropathy - gene therapy: from benchtop to bedside." Journal of Ophthalmology 2011:179412.
Koilkonda, R. D., Chou, T. H., Porciatti, V., Hauswirth, W. W. and Guy, J. (2010). "Induction of rapid and highly efficient expression of the human ND4 complex I subunit in the mouse visual system by self-complementary adeno-associated virus." Archives of Ophthalmology 128(7):876-883.
Koilkonda, R. D., Hauswirth, W. W. and Guy, J. (2009). "Efficient expression of self-complementary AAV in ganglion cells of the ex vivo primate retina." Molecular Vision 15:2796-2802.
Koilkonda, R. D., Yu, H., Chou, T. H., Feuer, W. J., Ruggeri, M., Porciatti, V., Tse, D., Hauswirth, W. W., Chiodo, V., Boye, S. L., Lewin, A. S., Neuringer, M., Renner, L. and Guy, J. (2014). "Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial." JAMA Ophthalmology 132(4):409-420.
Koilkonda, R., Yu, H., Talla, V., Porciatti, V., Feuer, W. J., Hauswirth, W. W., Chiodo, V., Erger, K. E., Boye, S. L., Lewin, A. S., Conlon, T. J., Renner, L., Neuringer, M., Detrisac, C. and Guy, J. (2014). "LHON gene therapy vector prevents visual loss and optic neuropathy induced by G11778A mutant mitochondrial DNA: biodistribution and toxicology profile." Investigative Ophthalmology and Visual Science 55(12):7739-7753.
Kojima, T., Yamamoto, M., Furuhashi, N., Sarui, H., Takatsu, H., Takeda, N., Ishizuka, T., Yamada, K. and Yasuda, K. (2003). "Decrease of beta-cells and increase of alpha-cells in a diabetic patient with mitochondrial DNA 3243 (A-->G) mutation." Internal Medicine 42(12):1193-1196.
Kokaze, A., Ishikawa, M., Matsunaga, N., Karita, K., Yoshida, M., Ohtsu, T., Shirasawa, T., Sekii, H., Ito, T., Kawamoto, T. and Takashima, Y. (2009). "NADH dehydrogenase subunit-2 237 Leu/Met polymorphism modulates the effects of coffee consumption on the risk of hypertension in middle-aged Japanese men." Journal of Epidemiology 19(5):231-236.
Kokaze, A., Ishikawa, M., Matsunaga, N., Karita, K., Yoshida, M., Shimada, N., Ohtsu, T., Shirasawa, T., Ochiai, H., Kawamoto, T., Ito, T., Hoshino, H. and Takashima, Y. (2010). "Combined effect of longevity-associated mitochondrial DNA 5178 C/A polymorphism and coffee consumption on the risk of hyper-LDL cholesterolemia in middle-aged Japanese men." Journal of Human Genetics 55(9):577-581.
Kokaze, A., Ishikawa, M., Matsunaga, N., Yoshida, M., Makita, R., Satoh, M., Teruya, K., Sekiguchi, K., Masuda, Y., Harada, M., Uchida, Y. and Takashima, Y. (2005). "Longevity-associated mitochondrial DNA 5178 C/A polymorphism is associated with fasting plasma glucose levels and glucose tolerance in Japanese men." Mitochondrion 5(6):418-425.
Kokaze, A., Ishikawa, M., Matsunaga, N., Yoshida, M., Sekine, Y., Sekiguchi, K., Satoh, M., Harada, M., Teruya, K., Takeda, N., Uchida, Y. and Takashima, Y. (2003). "Longevity-associated mitochondrial DNA 5178 A/C polymorphism influences effects of cigarette smoking on serum protein fraction levels in Japanese men." Mechanisms of Ageing and Development 124(6):765-770.
Kokaze, A., Ishikawa, M., Matsunaga, N., Yoshida, M., Sekine, Y., Sekiguchi, K., Satoh, M., Harada, M., Teruya, K., Takeda, N., Uchida, Y., Tsunoda, T. and Takashima, Y. (2003). "Longevity-associated mitochondrial DNA 5178 A/C polymorphism modulates effects of daily drinking and cigarette consumption on serum triglyceride levels in middle-aged Japanese men." Experimental Gerontology 38(10):1071-1076.
Kokaze, A., Ishikawa, M., Matsunaga, N., Yoshida, M., Sekine, Y., Teruya, K., Takeda, N., Sumiya, Y., Uchida, Y. and Takashima, Y. (2001). "Association of the mitochondrial DNA 5178 A/C polymorphism with serum lipid levels in the Japanese population." Human Genetics 109(5):521-525.
Kokaze, A., Yoshida, M., Ishikawa, M., Matsunaga, N., Makita, R., Satoh, M., Sekiguchi, K., Masuda, Y., Uchida, Y. and Takashima, Y. (2004). "Longevity-associated mitochondrial DNA 5178 A/C polymorphism is associated with intraocular pressure in Japanese men." Clinical and Experimental Ophthalmology 32(2):131-136.
Kokoszka, J. E., Coskun, P., Esposito, L. and Wallace, D. C. (2001). "Increased mitochondrial oxidative stress in the Sod2 (+/-) mouse results in the age-related decline of mitochondrial function culminating in increased apoptosis." Proceedings of the National Academy of Sciences of the United States of America 98(5):2278-2283.
Kokoszka, J. E., Coskun, P., Esposito, L. and Wallace, D. C. (2001). "Increased mitochondrial oxidative stress in the Sod2 (+/-) mouse results in the age-related decline of mitochondrial function culminating in increased apoptosis." Proceedings of the National Academy of Sciences of the United States of America 98(5):2278-2283.
Kokoszka, J. E., Waymire, K. G., Levy, S. E., Sligh, J. E., Cai, J., Jones, D. P., MacGregor, G. R. and Wallace, D. C. (2004). "The ADP/ATP translocator is not essential for the mitochondrial permeability transition poreregulation." Nature 427(6973):461-465.
Kokotas, H., Grigoriadou, M., Korres, G. S., Ferekidou, E., Kandiloros, D., Korres, S. and Petersen, M. B. (2011). "Detection of deafness-causing mutations in the Greek mitochondrial genome". Disease Markers 30(6):283-289.
Kokotas, H., Grigoriadou, M., Yang, L., Lodahl, M., Rendtorff, N. D., Gyftodimou, Y., Korres, G. S., Ferekidou, E., Kandiloros, D., Korres, S., Tranebjaerg, L., Guan, M. X. and Petersen, M. B. (2011). "Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss". International Journal of Pediatric Otorhinolaryngology 75(1):89-94.
Kokotas, H., Petersen, M. B. and Willems, P. J. (2007). "Mitochondrial deafness". Clinical Genetics 71(5):379-391.
Kolarova, H., Liskova, P., Tesarova, M., Kucerova Vidrova, V., Forgac, M., Zamecnik, J., Hansikova, H. and Honzik, T. (2016). "Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5." Ophthalmic Genetics 37(4):419-423.
Kolesnikova, O. A., Entelis, N. S., Jacquin-Becker, C., Goltzene, F., Chrzanowska-Lightowlers, Z. M., Lightowlers, R. N., Martin, R. P. and Tarassov, I. (2004). "Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells." Human Molecular Genetics 13(20):2519-2534.
Kollberg, G., Jansson, M., Perez-Bercoff, A., Melberg, A., Lindberg, C., Holme, E., Moslemi, A. R. and Oldfors, A. (2005). "Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations." European Journal of Human Genetics 13(4):463-469.
Kollberg, G., Moslemi, A. R., Lindberg, C., Holme, E. and Oldfors, A. (2005). "Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I." Journal of Neuropathology and Experimental Neurology 64(2):123-128.
Koller, H., Kornischka, J., Neuen-Jacob, E., Saleh, A., von Giesen, H. J., Schmiedel, J., Reichmann, H. and Hartung, H. P. (2003). "Persistent organic personality change as rare psychiatric manifestation of MELAS syndrome." Journal of Neurology 250(12):1501-1502.
Kolman, C. J. and Bermingham, E. (1997). "Mitochondrial and nuclear DNA diversity in the Choco and Chibcha Amerinds of Panama." Genetics 147(3):1289-1302.
Kolman, C. J., Bermingham, E., Cooke, R., Ward, R. H., Arias, T. D. and Guionneau-Sinclair, F. (1995). "Reduced mtDNA diversity in the Ngobe Amerinds of Panama." Genetics 140(1):275-283.
Kolman, C. J., Sambuughin, N. and Bermingham, E. (1996). "Mitochondrial DNA analysis of Mongolian populations and implications for the origin of New World founders." Genetics 142(4):1321-1334.
Komaki, H., Akanuma, J., Iwata, H., Takahashi, T., Mashima, Y., Nonaka, I. and Goto, Y. (2003). "A novel mtDNA C11777A mutation in Leigh syndrome." Mitochondrion 2(4):293-304.
Komaki, H., Fukazawa, T., Houzen, H., Yoshida, K., Nonaka, I. and Goto, Y. (2002). "A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions." Annals of Neurology 51(5):645-648.
Komaki, H., Nishigaki, Y., Fuku, N., Hosoya, H., Murayama, K., Ohtake, A., Goto, Y. I., Wakamoto, H., Koga, Y. and Tanaka, M. (2009). "Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency." Biochimica et Biophysica Acta 1800(3):313-315.
Komiya, T., Rospert, S., Koehler, C., Looser, R., Schatz, G. and Mihara, K. (1998). "Interaction of mitochondrial targeting signals with acidic receptor domains along the protein import pathway: evidence for the 'acid chain' hypothesis." Embo Journal 17(14):3886-3898.
Komlosi, K., Maasz, A., Kisfali, P., Hadzsiev, K., Bene, J., Melegh, B. I., Melegh, B., Ablonczy, M., Nemeth, K. and Fekete, G. (2013). "Non-syndromic hearing impairment in a Hungarian family with the m.7510T>C mutation of mitochondrial tRNA(Ser(UCN)) and review of published cases." JIMD Reports 9:105-111; erratum in JIMD Rep (2013) 2019:E2011.
Kondo, H., Fujita, Y., Mizuno, Y., Kihara, M. and Murayama, K. (2018). "Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with severe systemic symptoms: Pathology and biochemistry." Pediatrics International 60(3):300-302.
Kondrashov, F. A. (2005). "Prediction of pathogenic mutations in mitochondrially encoded human tRNAs." Human Molecular Genetics 14:2415-2419.
Kong, J. and Xu, Z. (1998). "Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1." Journal of Neuroscience 18(9):3241-3250.
Kong, Q. P., Bandelt, H. J., Sun, C., Yao, Y. G., Salas, A., Achilli, A., Wang, C. Y., Zhong, L., Zhu, C. L., Wu, S. F., Torroni, A. and Zhang, Y. P. (2006). "Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations." Human Molecular Genetics 15(13):2076-2086.
Kong, Q. P., Bandelt, H. J., Zhao, M., Zhang, Y. P. and Yaoe, Y. G. (2010). "Reply to van Oven: Suggestions and caveats for naming mtDNA haplogroup." Proceedings of the National Academy of Sciences of the United States of America 107(11):E40-E41.
Kong, Q. P., Salas, A., Sun, C., Fuku, N., Tanaka, M., Zhong, L., Wang, C. Y., Yao, Y. G. and Bandelt, H. J. (2008). "Distilling artificial recombinants from large sets of complete mtDNA genomes." PLoS ONE 3(8):e3016.
Kong, Q. P., Yao, Y. G., Liu, M., Shen, S. P., Chen, C., Zhu, C. L., Palanichamy, M. G. and Zhang, Y. P. (2003). "Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China." Human Genetics 113(5):391-405.
Kong, Q. P., Yao, Y. G., Sun, C., Bandelt, H. J., Zhu, C. L. and Zhang, Y. P. (2003). "Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. [Erratum: Am. J. Hum. Genet., 75:157, 2004]." American Journal of Human Genetics 73(3):671-676.
Kong, Q. P., Yao, Y. G., Sun, C., Zhu, C. L., Zhong, L., Wang, C. Y., Cai, W. W., Xu, X. M., Xu, A. L. and Zhang, Y. P. (2004). "Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic." Journal of Human Genetics 49(8):414-423.
Konings, A., Van Camp, G., Goethals, A., Van Eyken, E., Vandevelde, A., Ben Azza, J., Peeters, N., Wuyts, W., Smeets, H. and Van Laer, L. (2008). "Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients." Mitochondrion 8(5-6):377-382.
Koopman, W. J., Nijtmans, L. G., Dieteren, C. E., Roestenberg, P., Valsecchi, F., Smeitink, J. A. and Willems, P. H. (2010). "Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation". Antioxidants and Redox Signaling 12(12):1431-1470.
Koopman, W. J., Verkaart, S., Visch, H. J., van der Westhuizen, F. H., Murphy, M. P., van den Heuvel, L. W., Smeitink, J. A. and Willems, P. H. (2005). "Inhibition of complex I of the electron transport chain causes O2·-mediated mitochondrial outgrowth." American Journal of Physiology 288(6):C1440-C1450.
Koopman, W. J., Willems, P. H. and Smeitink, J. A. (2012). "Monogenic mitochondrial disorders." The New England Journal of Medicine 366(12):1132-1141.
Kopinski, P. K., Janssen, K., Schaefer, P., Trefely, S., Perry, C., Potluri, P., Tintos-Hernandez, J., Singh, L., Karch, K., Campbell, S., Doan, M., Jiang, H., Nissim, I., Nakamaru-Ogiso, E., Wellen, K., Snyder, N., Garcia, B. and Wallace, D. C. (2019). "Regulation of nuclear epigenome by mitochondrial DNA heteroplasmy." Proceedings of the National Academy of Sciences of the United States of America 116 (32):16028-16035.
Kopsidas, G., Zhang, C., Yarovaya, N., Kovalenko, S., Graves, S., Richardson, M. and Linnane, A. W. (2002). "Stochastic mitochondrial DNA changes: bioenergy decline in type I skeletal muscle fibres correlates with a decline in the amount of amplifiable full-length mtDNA." Biogerontology 3(1-2):29-36.
Korhonen, J. A., Pande, V., Holmlund, T., Farge, G., Pham, X. H., Nilsson, L. and Falkenberg, M. (2008). "Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia." Journal of Molecular Biology 377(3):691-705.
Korhonen, J. A., Pham, X. H., Pellegrini, M. and Falkenberg, M. (2004). "Reconstitution of a minimal mtDNA replisome in vitro." EMBO Journal 23(12):2423-2429.
Korlipara, L. V., Cooper, J. M. and Schapira, A. H. (2004). "Differences in toxicity of the catechol-O-methyl transferase inhibitors, tolcapone and entacapone to cultured human neuroblastoma cells." Neuropharmacology 46(4):562-569.
Kormann, B. A., Schuster, H., Berninger, T. A. and Leo-Kottler, B. (1991). "Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy." Human Genetics 88(1):98-100.
Kornblum, C., Zsurka, G., Wiesner, R. J., Schroder, R. and Kunz, W. S. (2008). "Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia." Bioscience Reports 28(2):89-96.
Korpelainen, H. (1999). "Genetic maternal effects on human life span through the inheritance of mitochondrial DNA." Human Heredity 49(4):183-185.
Kosel, S., Egensperger, R., Mehraein, P. and Graeber, M. B. (1994). "No association of mutations at nucleotide 5460 of mitochondrial NADH dehydrogenase with Alzheimer's disease." Biochemical and Biophysical Research Communications 203(2):745-749.
Kosel, S., Egensperger, R., Schnopp, N. M. and Graeber, M. B. (1997). "The 'common deletion' is not increased in parkinsonian substantia nigra as shown by competitive polymerase chain reaction." Movement Disorders 12(5):639-645.
Kosel, S., Grasbon-Frodl, E. M., Mautsch, U., Egensperger, R., von Eitzen, U., Frishman, D., Hofmann, S., Gerbitz, K. D., Mehraein, P. and Graeber, M. B. (1998). "Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease." Neurogenetics 1(3):197-204.
Kosel, S., Lucking, C. B., Egensperger, R., Mehraein, P. and Graeber, M. B. (1996). "Mitochondrial NADH dehydrogenase and CYP2D6 genotypes in Lewy-body parkinsonism." Journal of Neuroscience Research 44(2):174-183.
Koshiba, T., Holman, H. A., Kubara, K., Yasukawa, K., Kawabata, S., Okamoto, K., MacFarlane, J. and Shaw, J. M. (2011). "Structure-function analysis of the yeast mitochondrial Rho GTPase, Gem1p: implications for mitochondrial inheritance." The Journal of Biological Chemistry 286(1):354-362.
Koshikawa, N., Akimoto, M., Hayashi, J. I., Nagase, H. and Takenaga, K. (2017). "Association of predicted pathogenic mutations in mitochondrial ND genes with distant metastasis in NSCLC and colon cancer." Scientific Reports 7(1):15535.
Koshikawa, N., Kida, Y., Yasui, N., Shinozaki, Y., Tsuji, K., Watanabe, T., Lin, J., Yamamoto, S., Takenaga, K. and Nagase, H. (2021). "A linear five-ring pyrrole-imidazole polyamide-triphenylphosphonium conjugate targeting a mitochondrial DNA mutation efficiently induces apoptosis of HeLa cybrid cells carrying the mutation." Biochemical and Biophysical Research Communications 576:93-99.
Koshikawa, N., Yasui, N., Kida, Y., Shinozaki, Y., Tsuji, K., Watanabe, T., Takenaga, K. and Nagase, H. (2021). "A PI polyamide-TPP conjugate targeting a mtDNA mutation induces cell death of cancer cells with the mutation." Cancer Science 112(6):2504-2512.
Kouga, T., Takagi, M., Miyauchi, A., Shimbo, H., Iai, M., Yamashita, S., Murayama, K., Klein, M. B., Miller, G., Goto, T. and Osaka, H. (2018). "Japanese Leigh syndrome case treated with EPI-743." Brain and Development 40(2):145-149. Comment by Finsterer & Zarrouk-Mahjoub 2018 [PMID 28916229]; reply by Osaka and Kouga 28912018 [PMID 29500099]
Koulintchenko, M., Temperley, R. J., Mason, P. A., Dietrich, A. and Lightowlers, R. N. (2006). "Natural competence of mammalian mitochondria allows the molecular investigation of mitochondrial gene expression." Human Molecular Genetics 15(1):143-154.
Koutnikova, H., Campuzano, V., Foury, F., Dolle, P., Cazzalini, O. and Koenig, M. (1997). "Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin." Nature Genetics 16(4):345-351.
Kovacs, G. G., Hoftberger, R., Majtenyi, K., Horvath, R., Barsi, P., Komoly, S., Lassmann, H., Budka, H. and Jakab, G. (2005). "Neuropathology of white matter disease in Leber's hereditary optic neuropathy." Brain 128(Pt 1):35-41.
Kovalenko, S. A., Harms, P. J., Tanaka, M., Baumer, A., Kelso, J., Ozawa, T. and Linnane, A. W. (1997). "Method for in situ investigation of mitochondrial DNA deletions." Human Mutation 10(6):489-495.
Kovalenko, S. A., Kopsidas, G., Kelso, J. M. and Linnane, A. W. (1997). "Deltoid human muscle mtDNA is extensively rearranged in old age subjects." Biochemical & Biophysical Research Communications 232(1):147-152.
Kovalenko, S. A., Kopsidas, G., Kelso, J., Rosenfeldt, F. and Linnane, A. W. (1998). "Tissue-specific distribution of multiple mitochondrial DNA rearrangements during human aging." Annals of the New York Academy of Sciences 854:171-181.
Kowal, A. T., Morningstar, J. E., Johnson, M. K., Ramsay, R. R. and Singer, T. P. (1986). "Spectroscopic characterization of the number and type of iron-sulfur clusters in NADH:ubiquinone oxidoreductase." Journal of Biological Chemistry 261(20):9239-9245.
Kowald, A. and Kirkwood, T. B. (1993). "Mitochondrial mutations, cellular instability and ageing: modelling the population dynamics of mitochondria." Mutation Research 295(3):93-103.
Kozak, I., Oystreck, D. T., Abu-Amero, K. K., Nowilaty, S. R., Alkhalidi, H., Elkhamary, S. M., Mohamed, S., Hamad, M. H. A., Salih, M. A., Blakely, E. L., Taylor, R. W. and Bosley, T. M. (2018). "New observations regarding the retinopathy of genetically confirmed Kearns-Sayre Syndrome." Retinal Cases and Brief Reports 12(4):349-358.
Kozak, L. P., Britton, J. H., Kozak, U. C. and Wells, J. M. (1988). "The mitochondrial uncoupling protein gene. Correlation of exon structure to transmembrane domains." Journal of Biological Chemistry 263(25):12274-12277.
Kozopas, K. M., Yang, T., Buchan, H. L., Zhou, P. and Craig, R. W. (1993). "MCL1, a gene expressed in programmed myeloid cell differentiation, has sequence similarity to BCL2." Proceedings of the National Academy of Sciences of the United States of America 90(8):3516-3520.
Krag, T. O., Hauerslev, S., Jeppesen, T. D., Duno, M. and Vissing, J. (2013). "Muscle regeneration in mitochondrial myopathies". Mitochondrion 13(2):63-70.
Kraja, A. T., Liu, C., Fetterman, J. L., Graff, M., Have, C. T., et al. (2019). "Associations of mitochondrial and nuclear mitochondrial variants and genes with seven metabolic traits." American Journal of Human Genetics 104(1):112-138.
Krause, J., Briggs, A. W., Kircher, M., Maricic, T., Zwyns, N., Derevianko, A. and Paabo, S. (2010). "A complete mtDNA genome of an early modern human from Kostenki, Russia." Current Biology 20(3):231-236.
Kraya, T., Deschauer, M., Joshi, P. R., Zierz, S. and Gaul, C. (2018). "Prevalence of headache in patients with mitochondrial disease: a cross-sectional study." Headache 58(1):45-52. Erratum: Headache 58(42): 358
Kraytsberg, Y., Bodyak, N., Myerow, S., Nicholas, A., Ebralidze, K. and Khrapko, K. (2009). "Collection of isolated cells for studying mitochondrial DNA mutations within individual cells." Methods in Molecular Biology 554:315-327.
Kraytsberg, Y., Bodyak, N., Myerow, S., Nicholas, A., Ebralidze, K. and Khrapko, K. (2009). "Quantitative analysis of somatic mitochondrial DNA mutations by single-cell single-molecule PCR." Methods in Molecular Biology 554:329-369.
Kraytsberg, Y., Kudryavtseva, E., McKee, A. C., Geula, C., Kowall, N. W. and Khrapko, K. (2006). "Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons." Nature Genetics 38(5):518-520.
Kraytsberg, Y., Nekhaeva, E., Bodyak, N. B. and Khrapko, K. (2003). "Mutation and intracellular clonal expansion of mitochondrial genomes: two synergistic components of the aging process?" Mechanisms of Ageing and Development 124(1):49-53.
Kraytsberg, Y., Schwartz, M., Brown, T. A., Ebralidse, K., Kunz, W. S., Clayton, D. A., Vissing, J. and Khrapko, K. (2004). "Recombination of human mitochondrial DNA." Science 304(5673):981.
Kretzchmar, H. A., DeArmond, S. J., Koch, T. K., Patel, M. S., Newth, C. J. L., Schmidt, K. A. and Packman, S. (1987). "Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh's disease)." Pediatrics 79(3):370-373.
Krige, D., Carroll, M. T., Cooper, J. M., Marsden, C. D. and Schapira, A. H. (1992). "Platelet mitochondrial function in Parkinson's Disease." Annals of Neurology 32(6):782-788.
Krings, M., Stone, A., Schmitz, R. W., Krainitzki, H., Stoneking, M. and Paabo, S. (1997). "Neandertal DNA sequences and the origin of modern humans." Cell 90(1):19-30.
Kripps, K. A., Friederich, M. W., Chen, T., Larson, A. A., Mirsky, D. M., Wang, Y., Tanji, K., Knight, K. M., Wong, L. J. and Van Hove, J. L. K. (2020). "A novel acceptor stem variant in mitochondrial tRNA(Tyr) impairs mitochondrial translation and is associated with a severe phenotype." Molecular Genetics and Metabolism 131(4):398-404.
Krishnan, K. J. and Turnbull, D. M. (2010). "Mitochondrial DNA and genetic disease [Review]". Essays in Biochemistry 47(-):139-151.
Krishnan, K. J., Bender, A., Taylor, R. W. and Turnbull, D. M. (2007). "A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells." Analytical Biochemistry 370(1):127-129.
Krishnan, K. J., Greaves, L. C., Reeve, A. K. and Turnbull, D. (2007). "The ageing mitochondrial genome." Nucleic Acids Res 35(22):7399-7405.
Krishnan, K. J., Greaves, L. C., Reeve, A. K. and Turnbull, D. M. (2007). "Mitochondrial DNA mutations and aging." Ann N Y Acad Sci 1100:227-240.
Krishnan, K. J., Harbottle, A. and Birch-Machin, M. A. (2004). "The use of a 3895 bp mitochondrial DNA deletion as a marker for sunlight exposure in human skin." Journal of Investigative Dermatology 123(6):1020-1024.
Krishnan, K. J., Reeve, A. K. and Turnbull, D. M. (2007). "Do mitochondrial DNA mutations have a role in neurodegenerative disease?" Biochemical Society Transactions 35(Pt 5):1232-1235.
Krishnan, K. J., Reeve, A. K., Samuels, D. C., Chinnery, P. F., Blackwood, J. K., Taylor, R. W., Wanrooij, S., Spelbrink, J. N., Lightowlers, R. N. and Turnbull, D. M. (2008). "What causes mitochondrial DNA deletions in human cells?" Nature Genetics 40(3):275-279.
Kroemer, G. and Reed, J. C. (2000). "Mitochondrial control of cell death." Nature Medicine 6(5):513-519.
Kroemer, G., Zamzami, N. and Susin, S. A. (1997). "Mitochondrial control of apoptosis." Immunology Today 18(1):44-51.
Krueger, K. E. (1995). "Molecular and functional properties of mitochondrial benzodiazepine receptors." Biochimica et Biophysica Acta 1241(3):453-470.
Kruglyak, L. and Nickerson, D. A. (2001). "Variation is the spice of life." Nature Genetics 27(3):234-236.
Kruse, B., Narasimhan, N. and Attardi, G. (1989). "Termination of transcription in human mitochondria: identification and purification of a DNA binding protein factor that promotes termination." Cell 58(2):391-397.
Krylova, T. D., Sheremet, N. L., Tabakov, V. Y., Lyamzaev, K. G., Itkis, Y. S., Tsygankova, P. G., Andreeva, N. A., Shmelkova, M. S., Nevinitsyna, T. A., Kadyshev, V. V. and Zakharova, E. Y. (2020). "Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy." Mitochondrion 50:139-144.
Krylova, T. D., Tsygankova, P. G., Itkis, Y. S., Sheremet, N. L., Nevinitsyna, T. A., Mikhaylova, S. V. and Zakharova, E. Y. (2017). "[High resolution respirometry in diagnostic of mitochondrial disorders caused by mitochondrial complex I deficiency]." Biomeditsinskaia Khimiia 63(4):327-333.
Ksenzenko, M., Konstantinov, A. A., Khomutov, G. B., Tikhonov, A. N. and Ruuge, E. K. (1983). "Effect of electron transfer inhibitors on superoxide generation in the cytochrome bc1 site of the mitochondrial respiratory chain." FEBS Letters 155(1):19-24.
Ku, D. H., Kagan, J., Chen, S. T., Chang, C. D., Baserga, R. and Wurzel, J. (1990). "The human fibroblast adenine nucleotide translocator gene. Molecular cloning and sequence." Journal of Biological Chemistry 265(27):16060-16063.
Ku, H. H., Brunk, U. T. and Sohal, R. S. (1993). "Relationship between mitochondrial superoxide and hydrogen peroxide production and longevity of mammalian species." Free Radical Biology and Medicine 15(6):621-627.
Kuan, S. W., Chua, K. H., Tan, E., Tan, L. K., Loch, A. and Kee, B. P. (2022). "Whole mitochondrial genome sequencing of Malaysian patients with cardiomyopathy." PeerJ 10 e13265, https://peerj.com/articles/13265/
Kubota, N., Hayashi, J., Inada, T. and Iwamura, Y. (1997). "Induction of a particular deletion in mitochondrial DNA by X rays depends on the inherent radiosensitivity of the cells." Radiation Research 148(4):395-398.
Kucharczyk, R., Ezkurdia, N., Couplan, E., Procaccio, V., Ackerman, S. H., Blondel, M. and di Rago, J. P. (2010). "Consequences of the pathogenic T9176C mutation of human mitochondrial DNA on yeast mitochondrial ATP synthase." Biochimica et Biophysica Acta 1797(6-7):1105-1112.
Kuida, K., Haydar, T. F., Kuan, C. Y., Gu, Y., Taya, C., Karasuyama, H., Su, M. S., Rakic, P. and Flavell, R. A. (1998). "Reduced apoptosis and cytochrome c-mediated caspase activation in mice lacking caspase 9." Cell 94(3):325-337.
Kujoth, G. C., Hiona, A., Pugh, T. D., Someya, S., Panzer, K., Wohlgemuth, S. E., Hofer, T., Seo, A. Y., Sullivan, R., Jobling, W. A., Morrow, J. D., Van Remmen, H., Sedivy, J. M., Yamasoba, T., Tanokura, M., Weindruch, R., Leeuwenburgh, C. and Prolla, T. A. (2005). "Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging." Science 309(5733):481-484.
Kulawiec, M., Owens, K. M. and Singh, K. K. (2009). "mtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice." Journal of Human Genetics 54(11):647-654.
Kuleva, M., Ben Miled, S., Steffann, J., Bonnefont, J. P., Rondeau, S., Ville, Y., Munnich, A. and Salomon, L. J. (2019). "Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre." BJOG 126(11):1372-1379.
Kuleva, M., Ben Miled, S., Steffann, J., Rondeau, S., Ville, Y., Munnich, A. and Salomon, L. J. (2019). "Authors' reply re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre." BJOG 126(11):1401.
Kullar, P. J., Gomez-Duran, A., Gammage, P. A., Garone, C., Minczuk, M., Golder, Z., Wilson, J., Montoya, J., Hakli, S., Karppa, M., Horvath, R., Majamaa, K. and Chinnery, P. F. (2017). "Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family." Brain 141(1):55-62.
Kumar, M., Tanwar, M., Saxena, R., Sharma, P. and Dada, R. (2010). "Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy." Molecular Vision 16:782-792.
Kumar, R., Venkatesh, S., Kumar, M., Tanwar, M., Shasmsi, M. B., Kumar, R., Gupta, N. P., Sharma, R. K., Talwar, P. and Dada, R. (2009). "Oxidative stress and sperm mitochondrial DNA mutation in idiopathic oligoasthenozoospermic men." Indian Journal of Biochemistry and Biophysics 46(2):172-177.
Kumar, S., Bellis, C., Zlojutro, M., Melton, P. E., Blangero, J. and Curran, J. E. (2011). "Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins". BMC Evolutionary Biology 11:293.
Kumar, S., Hedrick, P., Dowling, T. and Stoneking, M. (2000). "Questioning evidence for recombination in human mitochondrial DNA [Technical Comment #3 re: Awadalla et al 1999] " Science 288(5473):1931.
Kumar, S., Padmanabham, P. B., Ravuri, R. R., Uttaravalli, K., Koneru, P., Mukherjee, P. A., Das, B., Kotal, M., Xaviour, D., Saheb, S. Y. and Rao, V. R. (2008). "The earliest settlers' antiquity and evolutionary history of Indian populations: evidence from M2 mtDNA lineage." BMC Evolutionary Biology 8:230.
Kumar, U., Dunlop, D. M. and Richardson, J. S. (1994). "Mitochondria from Alzheimer's fibroblasts show decreased uptake of calcium and increased sensitivity to free radicals." Life Sciences 54(24):1855-1860.
Kumimoto, H., Yamane, Y., Nishimoto, Y., Fukami, H., Shinoda, M., Hatooka, S. and Ishizaki, K. (2004). "Frequent somatic mutations of mitochondrial DNA in esophageal squamous cell carcinoma." International Journal of Cancer 108(2):228-231.
Kumleh, H. H., Riazi, G. H., Houshmand, M., Sanati, M. H., Gharagozli, K. and Shafa, M. (2006). "Complex I deficiency in Persian multiple sclerosis patients." Journal of the Neurological Sciences 243(1-2):65-69.
Kummer, E., Leibundgut, M., Rackham, O., Lee, R. G., Boehringer, D., Filipovska, A. and Ban, N. (2018). "Unique features of mammalian mitochondrial translation initiation revealed by cryo-EM." Nature 560(7717):263-267.
Kunchandy, J. and Kulkarni, S. K. (1988). "Hypoxic stress-induced convulsion and death: protective effect of alpha 2-adrenoceptor and benzodiazepine receptor agonists and Ro 5-4864." Archives Internationales de Pharmacodynamie et de Therapie 292:35-44.
Kunz, D., Luley, C., Fritz, S., Bohnensack, R., Winkler, K., Kunz, W. S. and Wallesch, C. W. (1995). "Oxygraphic evaluation of mitochondrial function in digitonin-permeabilized mononuclear cells and cultured skin fibroblasts of patients with chronic progressive external ophthalmoplegia." Biochemical and Molecular Medicine 54(2):105-111.
Kunz, W. S., Winkler, K., Kuznetsov, A. V., Lins, H., Kirches, E. and Wallesch, C. W. (1997). "Detection of mitochondrial defects by laser fluorimetry." Molecular and Cellular Biochemistry 174(1-2):97-100.
Kupka, S., Toth, T., Wrobel, M., Zeissler, U., Szyfter, W., Szyfter, K., Niedzielska, G., Bal, J., Zenner, H. P., Sziklai, I., Blin, N. and Pfister, M. (2002). "Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients." Human Mutation (Online) 19(3):308-309.
Kurland, C. G. and Andersson, S. G. (2000). "Origin and evolution of the mitochondrial proteome." Microbiology and Molecular Biology Review 64(4):786-820.
Kurogouchi, F., Oguchi, T., Mawatari, E., Yamaura, S., Hora, K., Takei, M., Sekijima, Y., Ikeda, S. and Kiyosawa, K. (1998). "A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation." American Journal of Nephrology 18(6):551-556.
Kurosaki, K., Matsushita, T. and Ueda, S. (1993). "Individual DNA identification from ancient human remains." American Journal of Human Genetics 53(3):638-643.
Kurth, J. H., Kurth, M. C., Poduslo, S. E. and Schwankhaus, J. D. (1993). "Association of a monoamine oxidase B allele with Parkinson's disease." Annals of Neurology 33(4):368-372.
Kusao, I., Agsalda, M., Troelstrup, D., Villanueva, N. and Shiramizu, B. (2008). "Chemotoxicity recovery of mitochondria in non-Hodgkin lymphoma resulting in minimal residual disease." Pediatric Blood and Cancer 51(2):193-197.
Kutsyi, M. P., Gouliaeva, N. A., Kuznetsova, E. A. and Gaziev, A. I. (2005). "DNA-binding proteins of mammalian mitochondria." Mitochondrion 5(1):35-44.
Kuwajima, M., Goto, M., Kurane, K., Shimbo, H., Omika, N., Jimbo, E. F., Muramatsu, K., Tajika, M., Shimura, M., Murayama, K., Kurosawa, K., Yamagata, T. and Osaka, H. (2019). "MELAS syndrome with m.4450 G>A mutation in mitochondrial tRNA(Met) gene." Brain and Development 41(5):465-469.
Kuwert, T., Lange, H. W., Boecker, H., Titz, H., Herzog, H., Aulich, A., Wang, B. C., Nayak, U. and Feinendegen, L. E. (1993). "Striatal glucose consumption in chorea-free subjects at risk of Huntington's disease [see comments]." Journal of Neurology 241(1):31-36.
Kuznetsov, A. V., Veksler, V., Gellerich, F. N., Saks, V., Margreiter, R. and Kunz, W. S. (2008). "Analysis of mitochondrial function in situ in permeabilized muscle fibers, tissues and cells." Nature Protocols 3(6):965-976.
Kwoh, T. J., Obermiller, P. S., McCue, A. W., Kwoh, D. Y., Sullivan, S. A. and Gingeras, T. R. (1988). "Introduction and expression of the bacterial PaeR7 restriction endonuclease gene in mouse cells containing the PaeR7 methylase." Nucleic Acids Research 16(24):11489-11506.
Kwon, H., Tan, D. J., Bai, R. K. and Wong, L. J. (2004). "Enhanced detection of deleterious mutations by TTGE analysis of mother and child's DNA side by side." Annals of the New York Academy of Sciences 1011:299-303.
Kwon, S., Kim, S. S., Nebeck, H. E. and Ahn, E. H. (2019). "Immortalization of different breast epithelial cell types results in distinct mitochondrial mutagenesis." International Journal of Molecular Sciences 20(11):2813.
Kwong, L. K. and Sohal, R. S. (1998). "Substrate and site specificity of hydrogen peroxide generation in mouse mitochondria." Archives of Biochemistry & Biophysics 350(1):118-126.
Kyriakouli, D. S., Boesch, P., Taylor, R. W. and Lightowlers, R. N. (2008). "Progress and prospects: gene therapy for mitochondrial DNA disease." Gene Therapy 15(14):1017-1023.
Kytovuori, L., Junttila, J., Huikuri, H., Keinanen-Kiukaanniemi, S., Majamaa, K. and Martikainen, M. H. (2020). "Mitochondrial DNA variation in sudden cardiac death: a population-based study." International Journal of Legal Medicine 134(1):39-44.
Kytovuori, L., Gardberg, M., Majamaa, K. and Martikainen, M. H. (2017). "The m.7510T>C mutation: hearing impairment and a complex neurologic phenotype." Brain and Behavior 7(12):e00859.
Kytovuori, L., Karppa, M., Tuominen, H., Uusimaa, J., Saari, M., Hinttala, R. and Majamaa, K. (2017). "Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder." BMC Neurology 17(1):96.
Kytovuori, L., Lipponen, J., Rusanen, H., Komulainen, T., Martikainen, M. H. and Majamaa, K. (2016). "A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism." Journal of Neurology 263(11):2188-2195.
La Morgia, C., Achilli, A., Iommarini, L., Barboni, P., Pala, M., Olivieri, A., Zanna, C., Vidoni, S., Tonon, C., Lodi, R., Vetrugno, R., Mostacci, B., Liguori, R., Carroccia, R., Montagna, P., Rugolo, M., Torroni, A. and Carelli, V. (2008). "Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus." Neurology 70(10):762-770.
La Morgia, C., Caporali, L., Gandini, F., Olivieri, A., Toni, F., Nassetti, S., Brunetto, D., Stipa, C., Scaduto, C., Parmeggiani, A., Tonon, C., Lodi, R., Torroni, A. and Carelli, V. (2014). "Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions." BMC Neurology 14:116.
La Russa, A., Cittadella, R., Andreoli, V., Valentino, P., Trecroci, F., Caracciolo, M., Gallo, O., Gambardella, A. and Quattrone, A. (2011). "Leber's hereditary optic neuropathy associated with a multiple-sclerosis-like picture in a man". Multiple Sclerosis Journal 17(6):763-766.
Laberge, A. M., Jomphe, M., Houde, L., Vezina, H., Tremblay, M., Desjardins, B., Labuda, D., St-Hilaire, M., Macmillan, C., Shoubridge, E. A. and Brais, B. (2005). "A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians." American Journal of Human Genetics 77(2):313-317.
Lachmund, U. and Mojon, D. S. (2006). "[Leber's hereditary optic neuropathy in malnutrition: a case report]." Klinische Monatsblatter fur Augenheilkunde 223(5):393-396.
Lackey, E., Lefland, A. and Eckstein, C. (2022). "Leber's hereditary optic neuropathy plus causing recurrent myelopathy due to an MT-DN1 mutation at G3635A." Case Reports in Neurological Medicine 2022 (https://doi.org/10.1155/2022/1628892) 1628892.
Laderman, K. A., Penny, J. R., Mazzucchelli, F., Bresolin, N., Scarlato, G. and Attardi, G. (1996). "Aging-dependent functional alterations of mitochondrial DNA (mtDNA) from human fibroblasts transferred into mtDNA-less cells." Journal of Biological Chemistry 271(27):15891-15897.
Laforet, P., Eymard, B., Danan, C., Chevallay, M., Rouche, A., Frachon, P., Fardeau, M. and Lombes, A. (1997). "[Progressive external ophthalmoplegia of mitochondrial origin: contribution of morphological and molecular studies]." Revue Neurologique 155(1):51-58.
Lagerstrom-Fermer, M., Olsson, C., Forsgren, L. and Syvanen, A. C. (2001). "Heteroplasmy of the human mtDNA control region remains constant during life." American Journal of Human Genetics 68(5):1299-1301.
Lahermo, P., Sajantila, A., Sistonen, P., Lukka, M., Aula, P., Peltonen, L. and Savontaus, M. L. (1996). "The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA." American Journal of Human Genetics 58(6):1309-1322.
Lahiri, D., Sawale, V. M., Banerjee, S., Dubey, S., Roy, B. K. and Das, S. K. (2019). "Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case report." Journal of Medical Case Reports 13(1):63.
Lai, C. H., Huang, S. F., Chen, I. H., Liao, C. T., Wang, H. M. and Hsieh, L. L. (2012). "The mitochondrial DNA Northeast Asia CZD haplogroup is associated with good disease-free survival among male oral squamous cell carcinoma patients." PLoS ONE 7(11):e49684.
Lai, L. P., Tsai, C. C., Su, M. J., Lin, J. L., Chen, Y. S., Tseng, Y. Z. and Huang, S. K. (2003). "Atrial fibrillation is associated with accumulation of aging-related common type mitochondrial DNA deletion mutation in human atrial tissue." Chest 123(2):539-544.
Lakatos, A., Derbeneva, O., Younes, D., Keator, D., Bakken, T., Lvova, M., Brandon, M., Guffanti, G., Reglodi, D., Saykin, A., Weiner, M., Macciardi, F., Schork, N., Wallace, D. C. and Potkin, S. G. (2010). "Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort." Neurobiology of Aging 31(8):1355-1363.
Laloi-Michelin, M., Meas, T., Ambonville, C., Bellanne-Chantelot, C., Beaufils, S., et al. (2009). "The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes." The Journal of Clinical Endocrinology and Metabolism 94(8):3025-3030.
Lalueza, C., Perez-Perez, A., Prats, E., Cornudella, L. and Turbon, D. (1997). "Lack of founding Amerindian mitochondrial DNA lineages in extinct aborigines from Tierra del Fuego-Patagonia." Human Molecular Genetics 6(1):41-46.
Lam, B. L. (1998). "Identical twins no longer discordant for Leber's hereditary optic neuropathy [letter]." Archives of Ophthalmology 116(7):956-957.
Lam, B. L., Burke, S. P., Wang, M. X., Nadayil, G. A., Rosa, P. R., Gregori, G., Feuer, W. J., Cuprill-Nilson, S., Vandenbroucke, R., Zhang, X. and Guy, J. (2016). "Macular retinal sublayer thicknesses in G11778A Leber hereditary optic neuropathy." Ophthalmic Surgery, Lasers and Imaging Retina 47(9):802-810.
Lam, B. L., Feuer, W. J., Abukhalil, F., Porciatti, V., Hauswirth, W. W. and Guy, J. (2010). "Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1." Archives of Ophthalmology 128(9):1129-1135.
Lam, B. L., Feuer, W. J., Schiffman, J. C., Porciatti, V., Vandenbroucke, R., Rosa, P. R., Gregori, G. and Guy, J. (2014). "Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy : preparation for gene therapy clinical trial." JAMA Ophthalmology 132(4):428-436.
Lam, C. W., Lau, C. H., Williams, J. C., Chan, Y. W. and Wong, L. J. (1997). "Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy." European Journal of Pediatrics 156(7):562-564.
Lam, C.W., Yang, T., Tsang, M.W. and Pang, C.P. (2001). "Homoplasmic 3316G-->A in the ND1 gene of the mitochondrial genome: a pathogenic mutation or a neutral polymorphism?" Journal of Medical Genetics 38(3):E10.
Lamantea, E., Carrara, F., Mariotti, C., Morandi, L., Tiranti, V. and Zeviani, M. (2002). "A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III." Neuromuscular Disorders 12(1):49-52.
Lamantea, E., Tiranti, V., Bordoni, A., Toscano, A., Bono, F., Servidei, S., Papadimitriou, A., Spelbrink, H., Silvestri, L., Casari, G., Comi, G. P. and Zeviani, M. (2002). "Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia." Annals of Neurology 52(2):211-219.
Lamminen, T., Huoponen, K., Sistonen, P., Juvonen, V., Lahermo, P., Aula, P., Nikoskelainen, E. and Savontaus, M. L. (1997). "mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy." European Journal of Human Genetics 5(5):271-279.
Lamminen, T., Majander, A., Juvonen, V., Wikstrom, M., Aula, P., Nikoskelainen, E. and Savontous, M. L. (1995). "A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy [letter]." American Journal of Human Genetics 56(5):1238-1240.
Lamont, P. J., Surtees, R., Woodward, C. E., Leonard, J. V., Wood, N. W. and Harding, A. E. (1998). "Clinical and laboratory findings in referrals for mitochondrial DNA analysis." Archives of Disease in Childhood 79(1):22-27.
Lamperti, C., Diodato, D., Lamantea, E., Carrara, F., Ghezzi, D., Mereghetti, P., Rizzi, R. and Zeviani, M. (2012). "MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I". Neuromuscular Disorders 22(11):990-994.
Lamperti, C., Naini, A., Hirano, M., De Vivo, D. C., Bertini, E., Servidei, S., Valeriani, M., Lynch, D., Banwell, B., Berg, M., Dubrovsky, T., Chiriboga, C., Angelini, C., Pegoraro, E. and DiMauro, S. (2003). "Cerebellar ataxia and coenzyme Q10 deficiency." Neurology 60(7):1206-1208.
Lamperti, C., Naini, A., Hirano, M., De Vivo, D. C., Bertini, E., Servidei, S., Valeriani, M., Lynch, D., Banwell, B., Berg, M., Dubrovsky, T., Chiriboga, C., Angelini, C., Pegoraro, E. and DiMauro, S. (2003). "Cerebellar ataxia and coenzyme Q10 deficiency." Neurology 60(7):1206-1208.
Lamperti, C. and Zeviani, M. (2009). "Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk." Acta Myologica 28(1):2-11.
Lan, Q., Xie, T., Jin, X., Fang, Y., Mei, S., Yang, G. and Zhu, B. (2019). "MtDNA polymorphism analyses in the Chinese Mongolian group: Efficiency evaluation and further matrilineal genetic structure exploration." Molecular Genetics and Genomic Medicine 7(10):e00934.
Land, J. M., Morgan-Hughes, J. A., Hargreaves, I. and Heales, S. J. (2004). "Mitochondrial disease: a historical, biochemical, and London perspective." Neurochemical Research 29(3):483-491.
Landhuis, E. (2004). "Symphony of errors." Science of Aging Knowledge Environment 21:26.
Lane, H., Bermingham, N., Farrell, M. A., Redmond, J., Connolly, S. and Brett, F. M. (2003). "Mitochondrial disorder with a common 4977-bp deletion presenting as a novel multisystem neurodegenerative disorder." Irish Medical Journal 96(8):249-250.
Lane, M. D., Pedersen, P. L. and Mildvan, A. S. (1986). "The mitochondrion updated". Science 234(4776):526-527.
Lane, N. (2009). "Biodiversity: On the origin of bar codes." Nature 462(7271):272-274.
Lane, N. and Martin, W. (2010). "The energetics of genome complexity". Nature 467(7318):929-934.
Lang, B. F., Burger, G., O'Kelly, C. J., Cedergren, R., Golding, G. B., Lemieux, C., Sankoff, D., Turmel, M. and Gray, M. W. (1997). "An ancestral mitochondrial DNA resembling a eubacterial genome in miniature [see comments]." Nature 387(6632):493-497.
Langdahl, J. H., Larsen, M., Frost, M., Andersen, P. H., Yderstraede, K. B., Vissing, J., Duno, M., Thomassen, M. and Frederiksen, A. L. (2018). "Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: a 10-year prospective cohort." Clinical Genetics 93(4):925-928.
Langer, S. Z. and Arbilla, S. (1988). "Imidazopyridines as a tool for the characterization of benzodiazepine receptors: a proposal for a pharmacological classification as omega receptor subtypes." Pharmacology Biochemsitry and Behavior 29(4):763-766.
Langston, J. W., Ballard, P., Tetrud, J. W. and Irwin, I. (1983). "Chronic parkinsonism in humans due to a product of meperidine-analog synthesis." Science 219(4587):979-980.
LaNoue, K. F., Jeffries, F. M. and Radda, G. K. (1986). "Kinetic control of mitochondrial ATP synthesis." Biochemistry 25(23):7667-7675.
Lanza, G., Cantone, M., Musso, S., Borgione, E., Scuderi, C. and Ferri, R. (2018). "Early-onset subcortical ischemic vascular dementia in an adult with mtDNA mutation 3316G>A." Journal of Neurology 265(4):968-969.
Lanza, I. R. and Nair, K. S. (2010). "Mitochondrial function as a determinant of life span." Pflügers Archiv: European Journal of Physiology 459(2):277-289.
Lao, O., Andres, A. M., Mateu, E., Bertranpetit, J. and Calafell, F. (2003). "Spatial patterns of cystic fibrosis mutation spectra in European populations." European Journal of Human Genetics 11(5):385-394.
Lara, M. C., Weiss, B., Illa, I., Madoz, P., Massuet, L., Andreu, A. L., Valentino, M. L., Anikster, Y., Hirano, M. and Marti, R. (2006). "Infusion of platelets transiently reduces nucleoside overload in MNGIE." Neurology 67(8):1461-1463.
Larcher, J. C., Vayssiere, J. L., Le Marquer, F. J., Cordeau, L. R., Keane, P. E., Bachy, A., Gros, F. and Croizat, B. P. (1989). "Effects of peripheral benzodiazepines upon the O2 consumption of neuroblastoma cells." European Journal of Pharmacology 161(2-3):197-202.
Laricchia, K. M., Lake, N. J., Watts, N. A., Shand, M., Haessly, A., Gauthier, L., Benjamin, D., Banks, E., Soto, J., Garimella, K., Emery, J., Genome Aggregation Database, C., Rehm, H. L., MacArthur, D. G., Tiao, G., Lek, M., Mootha, V. K. and Calvo, S. E. (2022). "Mitochondrial DNA variation across 56,434 individuals in gnomAD." Genome Research 32(3):569-582.
Larsen, N. B., Rasmussen, M. and Rasmussen, L. J. (2005). "Nuclear and mitochondrial DNA repair: similar pathways?" Mitochondrion 5(2):89-108.
Larson, A. A., Balasubramaniam, S., Christodoulou, J., Burrage, L. C., Marom, R., Graham, B. H., Diaz, G. A., Glamuzina, E., Hauser, N., Heese, B., Horvath, G., Mattman, A., van Karnebeek, C., Lane Rutledge, S., Williamson, A., Estrella, L., Van Hove, J. K. L. and Weisfeld-Adams, J. D. (2019). "Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6." Mitochondrion 44:58-64.
Larsson, N. G. (2002). "Leber hereditary optic neuropathy: a nuclear solution of a mitochondrial problem." Annals of Neurology 52(5):529-530.
Larsson, N. G. and Clayton, D. A. (1995). "Molecular genetic aspects of human mitochondrial disorders." Annual Review of Genetics 29:151-178.
Larsson, N. G. and Holme, E. (1992). "Multiple short direct repeats associated with single mtDNA deletions." Biochimica et Biophysica Acta 1139(4):311-314.
Larsson, N. G. and Luft, R. (1999). "Revolution in mitochondrial medicine." FEBS Letters 455(3):199-202.
Larsson, N. G. and Oldfors, A. (2001). "Mitochondrial myopathies." Acta Physiologica Scandinavica 171(3):385-393.
Larsson, N. G., Andersen, O., Holme, E., Oldfors, A. and Wahlstrom, J. (1991). "Leber's hereditary optic neuropathy and complex I deficiency in muscle." Annals of Neurology 30(5):701-708.
Larsson, N. G., Eiken, H. G., Boman, H., Holme, E., Oldfors, A. and Tulinius, M. H. (1992). "Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre Syndrome to her child." American Journal of Human Genetics 50(2):360-363.
Larsson, N. G., Garman, J. D., Oldfors, A., Barsh, G. S. and Clayton, D. A. (1996). "A single mouse gene encodes the mitochondrial transcription factor A and a testis-specific nuclear HMG-box protein." Nature Genetics 13(3):296-302.
Larsson, N. G., Holme, E., Kristiansson, B., Oldfors, A. and Tulinius, M. (1990). "Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome." Pediatric Research 28(2):131-136.
Larsson, N. G., Oldfors, A., Garman, J. D., Barsh, G. S. and Clayton, D. A. (1997). "Down-regulation of mitochondrial transcription factor A during spermatogenesis in humans." Human Molecular Genetics 6(2):185-191.
Larsson, N. G., Oldfors, A., Holme, E. and Clayton, D. A. (1994). "Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion." Biochemical and Biophysical Research Communications 200(3):1374-1381.
Larsson, N. G., Tulinius, M. H., Holme, E. and Oldfors, A. (1995). "Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas." Muscle and Nerve 3(6):S102-106.
Larsson, N. G., Tulinius, M. H., Holme, E., Oldfors, A., Andersen, O., Wahlstrom, J. and Aasly, J. (1992). "Segregation and manifestations of the mtDNA tRNALys A-G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome." American Journal of Human Genetics 51(6):1201-1212.
Larsson, N. G., Wang, J., Wilhelmsson, H., Oldfors, A., Rustin, P., Lewandoski, M., Barsh, G. S. and Clayton, D. A. (1998). "Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice." Nature Genetics 18(3):231-236.
Latsoudis, H., Spanaki, C., Chlouverakis, G. and Plaitakis, A. (2008). "Mitochondrial DNA polymorphisms and haplogroups in Parkinson's disease and control individuals with a similar genetic background." Journal of Human Genetics 53(4):349-356.
Latvala, T., Mustonen, E., Uusitalo, R. and Majamaa, K. (2002). "Pigmentary retinopathy in patients with the MELAS mutation 3243A-->G in mitochondrial DNA." Graefes Archive for Clinical and Experimental Ophthalmology 240(10):795-801.
Lauber, J., Marsac, C., Kadenbach, B. and Seibel, P. (1991). "Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases." Nucleic Acids Research 19(7):1393-1397.
Law, P. K., Goodwin, T. G., Li, H. J. and Chen, M. (1990). "Plausible structural/functional/behavioral/biochemical transformations following myoblast transfer therapy." Advances in Experimental Medicine & Biology 280:241-250.
Law, R. H., Farrell, L. B., Nero, D., Devenish, R. J. and Nagley, P. (1988). "Studies on the import into mitochondria of yeast ATP synthase subunits 8 and 9 encoded by artificial nuclear genes." FEBS Letters 236(2):501-505.
Lax, N. Z., Gnanapavan, S., Dowson, S. J., Alston, C. L., He, L., Polvikoski, T. M., Jaros, E., O'Donovan, D. G., Yarham, J. W., Turnbull, D. M., Dean, A. F. and Taylor, R. W. (2013). "Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study." Journal of Neuropathology and Experimental Neurology 72(2):164-175.
Lax, N. Z., Hepplewhite, P. D., Reeve, A. K., Nesbitt, V., McFarland, R., Jaros, E., Taylor, R. W. and Turnbull, D. M. (2012). "Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study". Journal of Neuropathology and Experimental Neurology 71(2):148-161.
Lax, N. Z., Pienaar, I. S., Reeve, A. K., Hepplewhite, P. D., Jaros, E., Taylor, R. W., Kalaria, R. N. and Turnbull, D. M. (2012). "Microangiopathy in the cerebellum of patients with mitochondrial DNA disease". Brain 135(Pt 6):1736-1750.
Lazdinyte, S., Schorderet, D. F., Schaller, A., Valmaggia, C. and Todorova, M. G. (2019). "Analysis of inherited optic neuropathies." Klinische Monatsblatter fur Augenheilkunde 236(4):451-461.
Le Fur, G., Perrier, M. L., Vaucher, N., Imbault, F., Flamier, A., Benavides, J., Uzan, A., Renault, C., Dubroeucq, M. C. and Gueremy, C. (1983). "Peripheral benzodiazepine binding sites: effect of PK 11195, 1-(2- chlorophenyl)-N-methyl-N-(1-methylpropyl)-3-isoquinolinecarboxamide. I. In vitro studies." Life Sciences 32(16):1839-1847.
Leber, T. (1871). "Ueber hereditare un congenital-angelegte Sehnervenleiden." Albrecht von Graefe's Archiv fur Klinische und Experimentalle Ophthalmologie 17:249-291.
Lebiedzinska, M., Karkucinska-Wieckowska, A., Giorgi, C., Karczmarewicz, E., Pronicka, E., Pinton, P., Duszynski, J., Pronicki, M. and Wieckowski, M. R. (2010). "Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders." Biochimica et Biophysica Acta 1797(6-7):952-960.
Lebon, S., Chol, M., Benit, P., Mugnier, C., Chretien, D., Giurgea, I., Kern, I., Girardin, E., Hertz-Pannier, L., de Lonlay, P., Rotig, A., Rustin, P. and Munnich, A. (2003). "Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency." Journal of Medical Genetics 40(12):896-899.
Lebovitz, R. M., Zhang, H., Vogel, H., Cartwright, J., Jr., Dionne, L., Lu, N., Huang, S. and Matzuk, M. M. (1996). "Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice." Proceedings of the National Academy of Sciences of the United States of America 93(18):9782-9787.
Lebre, A. S., Rio, M., Faivre d'Arcier, L., Vernerey, D., Landrieu, P., et al. (2011). "A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency". Journal of Medical Genetics 48(1):16-23.
Lebrecht, D., Kokkori, A., Ketelsen, U. P., Setzer, B. and Walker, U. A. (2005). "Tissue-specific mtDNA lesions and radical-associated mitochondrial dysfunction in human hearts exposed to doxorubicin." Journal of Pathology 207(4):436-244.
Lebrecht, D., Setzer, B., Ketelsen, U. P., Haberstroh, J. and Walker, U. A. (2003). "Time-dependent and tissue-specific accumulation of mtDNA and respiratory chain defects in chronic doxorubicin cardiomyopathy." Circulation 108(19):2423-2429.
Lechowicz, U., Pollak, A., Fraczak, A., Rydzanicz, M., Stawinski, P., Lorens, A., Skarzynski, P. H., Skarzynski, H., Ploski, R. and Oldak, M. (2018). "Application of nextgeneration sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss." Molecular Medicine Reports 17(1):1782-1790.
Lechuga-Vieco, A. V., Justo-Mendez, R. and Enriquez, J. A. (2021). "Not all mitochondrial DNAs are made equal and the nucleus knows it." IUBMB Life 73(3):511-529.
Lechuga-Vieco, A. V., Latorre-Pellicer, A., Johnston, I. G., Prota, G., Gileadi, U., et al. (2020). "Cell identity and nucleo-mitochondrial genetic context modulate OXPHOS performance and determine somatic heteroplasmy dynamics." Science Advances 6(31):eaba5345.
Leckschat, S., Ream-Robinson, D. and Scheffler, I. E. (1993). "The gene for the iron sulfur protein of succinate dehydrogenase (SDH-IP) maps to human chromosome 1p35-36.1." Somat Cell Mol Genet 19(5):505-511.
Lederer, S. R., Klopstock, T. and Schiffl, H. (2010). "MELAS: a mitochondrial disorder in an adult patient with a renal transplant." Wiener Klinische Wochenschrift 122(11-12):363-365.
LeDoux, S. P., Wilson, G. L. and Bohr, V. A. (1993). "Mitochondrial DNA repair and cell injury." In Mitochondrial Dysfunction, Methods in Toxicology 2: 461-476; New York, Academic Press. Jones, D. P. and Lash, L., Eds.
LeDoux, S. P., Wilson, G. L., Beecham, E. J., Stevnsner, T., Wassermann, K. and Bohr, V. A. (1992). "Repair of mitochondrial DNA after various types of DNA damage in Chinese hamster ovary cells." Carcinogenesis 13(11):1967-1973.
Lee, A. G. and Brazis, P. W. (2002). "Chronic progressive external ophthalmoplegia." Current Neurology and Neuroscience Reports 2(5):413-417.
Lee, C., Jang, J. H., Park, K. A., Lee, G. I. and Oh, S. Y. (2021). "A new phenotype of MT-ND6 gene mutation for Leber's hereditary optic neuropathy." Neurological Sciences 42(10):4367–4371.
Lee, C., Yen, K. and Cohen, P. (2013). "Humanin: a harbinger of mitochondrial-derived peptides?" Trends in Endocrinology and Metabolism 24(5):222-228.
Lee, C., Zeng, J., Drew, B. G., Sallam, T., Martin-Montalvo, A., Wan, J., Kim, S. J., Mehta, H., Hevener, A. L., de Cabo, R. and Cohen, P. (2015). "The mitochondrial-derived peptide MOTS-c promotes metabolic homeostasis and reduces obesity and insulin resistance." Cell Metabolism 21(3):443-454.
Lee, C. K., Klopp, R. G., Weindruch, R. and Prolla, T. A. (1999). "Gene expression profile of aging and its retardation by caloric restriction." Science 285(5432):1390-1393.
Lee, C. M., Weindruch, R. and Aiken, J. M. (1997). "Age-associated alterations of the mitochondrial genome." Free Radical Biology and Medicine 22(7):1259-1269.
Lee, D. Y. and Clayton, D. A. (1998). "Initiation of mitochondrial DNA replication by transcription and R-loop processing." Journal of Biological Chemistry 273(46):30614-30621.
Lee, H. C. and Wei, Y. H. (1997). "Mutation and oxidative damage of mitochondrial DNA and defective turnover of mitochondria in human aging." Journal of the Formosan Medical Association 96(10):770-778.
Lee, H. C., Chang, C. M. and Chi, C. W. (2010). "Somatic mutations of mitochondrial DNA in aging and cancer progression." Ageing Research Reviews 9 Suppl 1:S47-S58.
Lee, H. C., Li, S. H., Lin, J. C., Wu, C. C., Yeh, D. C. and Wei, Y. H. (2004). "Somatic mutations in the D-loop and decrease in the copy number of mitochondrial DNA in human hepatocellular carcinoma." Mutation Research 547(1-2):71-78.
Lee, H. C., Lim, M. L., Lu, C. Y., Liu, V. W., Fahn, H. J., Zhang, C., Nagley, P. and Wei, Y. H. (1999). "Concurrent increase of oxidative DNA damage and lipid peroxidation together with mitochondrial DNA mutation in human lung tissues during aging--smoking enhances oxidative stress on the aged tissues." Archives of Biochemistry & Biophysics 362(2):309-316.
Lee, H. C., Pang, C. Y., Hsu, H. S. and Wei, Y. H. (1994). "Ageing-associated tandem duplications in the D-loop of mitochondrial DNA of human muscle." FEBS Letters 354(1):79-83.
Lee, H. C., Pang, C. Y., Hsu, H. S. and Wei, Y. H. (1994). "Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing." Biochimica et Biophysica Acta 1226(1):37-43.
Lee, H. C., Song, Y. D., Li, H. R., Park, J. O., Suh, H. C., Lee, E., Lim, S., Kim, K. and Huh, K. (1997). "Mitochondrial gene transfer ribonucleic acid (tRNA)Leu(UUR) 3243 and tRNA(Lys) 8344 mutations and diabetes mellitus in Korea." Journal of Clinical Endocrinology & Metabolism 82(2):372-374.
Lee, H. K. (2004). "Mitochondrial pathogenesis from genes and apoptosis to aging and disease. Overview." Annals of the New York Academy of Sciences 1011:1-6.
Lee, H. K., Park, K. S., Cho, Y. M., Lee, Y. Y. and Pak, Y. K. (2005). "Mitochondria-based model for fetal origin of adult disease and insulin resistance." Annals of the New York Academy of Sciences 1042:1-18.
Lee, H. Y., Song, I., Ha, E., Cho, S. B., Yang, W. I. and Shin, K. J. (2008). "mtDNAmanager: a Web-based tool for the management and quality analysis of mitochondrial DNA control-region sequences." BMC Bioinformatics 9(1):483.
Lee, H. Y., Song, I., Ha, E., Cho, S. B., Yang, W. I. and Shin, K. J. (2009). "Mutation Motifs" on mtDNA Manager web site, http://mtmanager.yonsei.ac.kr/help/MutationMotifs.pdf, accessed January 13, 2009.
Lee, H., Na, J. H. and Lee, Y. M. (2022). "Mitochondrial tRNA(His) mutation (m.12158A > G) associated with MELAS syndrome." Clinical Genetics 101(4):474-475.
Lee, M. S. and Levin, B. C. (2002). "MitoAnalyzer, a computer program and interactive web site to determine the effects of single nucleotide polymorphisms and mutations in human mitochondrial DNA." Mitochondrion 1(4):321-326.
Lee, M., Choi, J. S. and Ko, K. S. (2008). "Mitochondria targeting delivery of nucleic acids." Expert Opinion on Drug Delivery 5(8):879-887.
Lee, S. D., Shin, C. H., Kim, K. B., Lee, Y. S. and Lee, J. B. (1997). "Sequence variation of mitochondrial DNA control region in Koreans." Forensic Science International 87(2):99-116.
Lee, W., Choi, H. I., Kim, M. J. and Park, S. Y. (2008). "Depletion of mitochondrial DNA up-regulates the expression of MDR1 gene via an increase in mRNA stability." Experimental and Molecular Medicine 40(1):109-117.
Lee, Y. S., Kim, W. Y., Ji, M., Kim, J. H. and Bhak, J. (2009). "MitoVariome: a variome database of human mitochondrial DNA." BMC Genomics 10 Suppl 3:S12.
Leeuwin, R. S., Zeegers, A. and Van Wilgenburg, H. (1996). "PK 11195 antagonizes the positive inotropic response of the isolated rat heart to diazepam but not the negative inotropic response." European Journal of Pharmacology 299(1-3):149-152.
Legras, A., Lievre, A., Bonaiti-Pellie, C., Cottet, V., Pariente, A., Nalet, B., Lafon, J., Faivre, J., Bonithon-Kopp, C., Goasguen, N., Penna, C., Olschwang, S. and Laurent-Puig, P. (2008). "Mitochondrial D310 mutations in colorectal adenomas: an early but not causative genetic event during colorectal carcinogenesis." International Journal of Cancer 122(10):2242-2248.
Legros, F., Chatzoglou, E., Frachon, P., Ogier De Baulny, H., Laforet, P., Jardel, C., Godinot, C. and Lombes, A. (2001). "Functional characterization of novel mutations in the human cytochrome b gene." European Journal of Human Genetics 9(7):510-518.
Lehman, J. J., Barger, P. M., Kovacs, A., Saffitz, J. E., Medeiros, D. M. and Kelly, D. P. (2000). "Peroxisome proliferator-activated receptor gamma coactivator-1 promotes cardiac mitochondrial biogenesis." Journal of Clinical Investigation 106(7):847-856.
Lehmann, D., Schubert, K., Joshi, P. R., Baty, K., Blakely, E. L., Zierz, S., Taylor, R. W. and Deschauer, M. (2015). "A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease." Neuromuscular Disorders 25(1):81-84.
Lehmann, D., Schubert, K., Joshi, P. R., Hardy, S. A., Tuppen, H. A., Baty, K., Blakely, E. L., Bamberg, C., Zierz, S., Deschauer, M. and Taylor, R. W. (2015). "Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy." European Journal of Human Genetics 23(12):1735-1738.
Lehmann, G., Segal, E., Muradian, K. K. and Fraifeld, V. E. (2008). "Do mitochondrial DNA and metabolic rate complement each other in determination of the Mammalian maximum longevity?" Rejuvenation Research 11(2):409-417.
Lehnhardt, F. G., Horvath, R., Ullrich, R., Kracht, L., Sobesky, J., Moller-Hartmann, W., Jacobs, A. H. and Haupt, W. F. (2008). "Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions." Archives of Neurology 65(3):407-411.
Lehtinen, S. K., Hance, N., El Meziane, A., Juhola, M. K., Juhola, K. M., Karhu, R., Spelbrink, J. N., Holt, I. J. and Jacobs, H. T. (2000). "Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA." Genetics 154(1):363-380.
Lehtonen, M. S., Meinila, M., Hassinen, I. E. and Majamaa, K. (1999). "Haplotype-matched controls as a tool to discriminate polymorphisms from pathogenic mutations in mtDNA." Human Genetics 105(5):513-514.
Lehtonen, M. S., Moilanen, J. S. and Majamaa, K. (2003). "Increased variation in mtDNA in patients with familial sensorineural hearing impairment." Human Genetics 113(3):220-227.
Lehtonen, M. S., Uimonen, S., Hassinen, I. E. and Majamaa, K. (2000). "Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment." European Journal of Human Genetics 8(4):315-318.
Leijon, M., Sehlstedt, U., Nielsen, P. E. and Graslund, A. (1997). "Unique base-pair breathing dynamics in PNA-DNA hybrids." Journal of Molecular Biology 271(3):438-455.
Lell, J. T., Brown, M. D., Schurr, T. G., Sukernik, R. I., Starikovskaya, Y. B., Torroni, A., Moore, L. G., Troup, G. M. and Wallace, D. C. (1997). "Y chromosome polymorphisms in native American and Siberian populations: identification of native American Y chromosome haplotypes." Human Genetics 100(5-6):536-543.
Lell, J. T., Sukernik, R. I., Starikovskaya, Y. B., Su, B., Jin, L., Schurr, T. G., Underhill, P. A. and Wallace, D. C. (2002). "The dual origin and Siberian affinities of Native American Y chromosomes." American Journal of Human Genetics 70(1):192-206.
Lemarie, A. and Grimm, S. (2011). "Mitochondrial respiratory chain complexes: apoptosis sensors mutated in cancer? [Review]". Oncogene 30(38):3985-4003.
Lemmers, R. J., van der Maarel, S. M., van Deutekom, J. C., van der Wielen, M. J., Deidda, G., Dauwerse, H. G., Hewitt, J., Hofker, M., Bakker, E., Padberg, G. W. and Frants, R. R. (1998). "Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis." Human Molecular Genetics 7(8):1207-1214.
Lemoine, S., Panaye, M., Rabeyrin, M., Errazuriz-Cerda, E., Mousson de Camaret, B., Petiot, P., Juillard, L. and Guebre-Egziabher, F. (2018). "Renal involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: a case report." American Journal of Kidney Diseases 71(5):754-757.
Lemza, S. V., Sokolova, O. V. and Puzyrev, V. P. (1992). "Mitochondrial DNA polymorphism in Russians from west Siberia." Human Heredity 42(2):129-133.
Lenaz, G. (1998). "Role of mitochondria in oxidative stress and ageing." Biochimica et Biophysica Acta 1366(1-2):53-67.
Lenaz, G., Baracca, A., Carelli, V., D'Aurelio, M., Sgarbi, G. and Solaini, G. (2004). "Bioenergetics of mitochondrial diseases associated with mtDNA mutations". Biochimica et Biophysica Acta 1658(1-2):89-94.
Leo-Kottler, B., Christ-Adler, M., Baumann, B., Zrenner, E. and Wissinger, B. (1996). "Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene." German Journal of Ophthalmology 5(4):233-240.
Leo-Kottler, B., Jagle, H., Kupker, T. and Schimpf, S. (2007). "[How to distinguish between autosomal dominant optic atrophy and Leber's hereditary optic neuropathy]." Die Ophthalmologie 104(12):1060-1065.
Leo-Kottler, B., Luberichs, J., Besch, D., Christ-Adler, M. and Fauser, S. (2002). "Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery." Graefes Archive for Clincial and Experimental Ophthalmology 240(9):758-764.
Leonard, J. V. and Schapira, A. H. (2000). "Mitochondrial respiratory chain disorders I: mitochondrial DNA defects." Lancet 355(9200):299-304.
Leonard, J. V. and Schapira, A. H. (2000). "Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects." Lancet 355(9201):389-394.
Leontis, N. B. and Westhof, E. (1998). "Conserved geometrical base-pairing patterns in RNA." Quarterly Reviews of Biophysics 31(4):399-455.
Lerman, L. S., Silverstein, K. and Grinfeld, E. (1986). "Searching for gene defects by denaturing gradient gel electrophoresis." Cold Spring Harbor Symposia on Quantitative Biology 51(Pt 1):285-297.
Leroy, D. and Norby, S. (1994). "A new human mtDNA polymorphism: tRNAGln/4336 T(C)." Clinical Genetics 45(2):109-110.
Lertrit, P., Kapsa, R. M. I., Jean-Francois, M. J. B., Thyagarajan, D., Noer, A. S., Marzuki, S. and Byrne, E. (1994). "Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction." Human Molecular Genetics 3(11):1973-1981.
Lertrit, P., Noer, A. S., Byrne, E. and Marzuki, S. (1992). "Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy." Human Genetics 90(3):251-254.
Lertrit, P., Noer, A. S., Jean-Francois, M. J., Kapsa, R., Dennett, X., Thyagarajan, D., Lethlean, K., Byrne, E. and Marzuki, S. (1992). "A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I [see comments]." American Journal of Human Genetics 51(3):457-468.
Lertrit, P., Ruangvaravate, N., Trongpanich, Y., Imsumran, A., Mungkornkarn, C. and Neungton, N. (1999). "Leber's hereditary optic neuropathy (LHON) with mitochondrial ND4 gene mutation (11778) in a Thai patient." Journal of the Medical Association of Thailand 82(1):59-64.
Leruez, S., Verny, C., Bonneau, D., Procaccio, V., Lenaers, G., Amati-Bonneau, P., Reynier, P., Scherer, C., Prundean, A., Orssaud, C., Zanlonghi, X., Rougier, M. B., Tilikete, C. and Milea, D. (2018). "Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy." Orphanet Journal of Rare Diseases 13(1):33.
Leshinsky-Silver, E., Lev, D., Malinger, G., Shapira, D., Cohen, S., Lerman-Sagie, T. and Saada, A. (2010). "Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3." Molecular Genetics and Metabolism 100(1):65-70.
Leshinsky-Silver, E., Lev, D., Tzofi-Berman, Z., Cohen, S., Saada, A., Yanoov-Sharav, M., Gilad, E. and Lerman-Sagie, T. (2005). "Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene." Biochemical and Biophysical Research Communications 334(2):582-587.
Leshinsky-Silver, E., Malinger, G., Ben-Sira, L., Kidron, D., Cohen, S., Inbar, S., Bezaleli, T., Levine, A., Vinkler, C., Lev, D. and Lerman-Sagie, T. (2011). "A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutieres syndrome associated with mtDNA deletions". European Journal of Human Genetics 19(3):287-292.
Leshinsky-Silver, E., Perach, M., Basilevsky, E., Hershkovitz, E., Yanoov-Sharav, M., Lerman-Sagie, T. and Lev, D. (2003). "Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA." Prenatal Diagnosis 23(1):31-33.
Leshinsky-Silver, E., Shuvalov, R., Inbar, S., Cohen, S., Lev, D. and Lerman-Sagie, T. (2011). "Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence". Journal of Child Neurology 26(4):476-481.
Lesko, N., Naess, K., Wibom, R., Solaroli, N., Nennesmo, I., von Dobeln, U., Karlsson, A. and Larsson, N. G. (2010). "Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion." Neuromuscular Disorders 20(3):198-203.
Lestienne, P. (1989). "Mitochondrial and nuclear DNA complementation in the respiratory chain function and defects." Biochimie 71(11-12):1115-1123.
Lestienne, P. (1997). "[Do mitochondria play a role in aging?]." Comptes Rendus des Seances de la Societe de Biologie et de Ses Filiales 191(4):579-592.
Lestienne, P. and Ponsot, G. (1988). "Kearns-Sayre syndrome with muscle mitochondrial DNA deletion [letter]." Lancet 1(8590):885.
Lestienne, P., Bataille, N. and Lucas-Heron, B. (1995). "Role of the mitochondrial DNA and calmitine in myopathies." Biochimica et Biophysica Acta 1271(1):159-163.
Lestienne, P. P., Boudsocq, F. and Bonnet, J. E. (2008). "Initiation of DNA replication by a third parallel DNA strand bound in a triple-helix manner leads to strand invasion." Biochemistry 47(21):5689-5698.
Lestienne, P., Reynier, P., Chretien, M. F., Penisson-Besnier, I., Malthiery, Y. and Rohmer, V. (1997). "Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements." Molecular Human Reproduction 3(9):811-814.
Letellier, T., Heinrich, R., Malgat, M. and Mazat, J. P. (1994). "The kinetic basis of threshold effects observed in mitochondrial diseases:a systemic approach." Biochemical Journal 302(Pt 1):171-174.
Letellier, T., Malgat, M., Rossignol, R. and Mazat, J. P. (1998). "Metabolic control analysis and mitochondrial pathologies." Molecular & Cellular Biochemistry 184(1-2):409-417.
Leung, D. G., Cohen, J. S., Michelle, E. H., Bai, R., Mammen, A. L. and Christopher-Stine, L. (2018). "Mitochondrial DNA deletions With low-level heteroplasmy in adult-onset myopathy." Journal of Clinical Neuromuscular Disease 19(3):117-123.
Leuzzi, V., Carducci, C., Lenza, M., Salvetti, M., Ristori, G., Di Giovanni, S. and Torroni, A. (1997). "LHON mutations in Italian patients affected by multiple sclerosis." Acta Neurologica Scandinavica 96(3):145-148.
Levanon, D., Lieman-Hurwitz, J., Dafni, N., Wigderson, M., Sherman, L., Bernstein, Y., Laver-Rudich, Z., Danciger, E., Stein, O. and Groner, Y. (1985). "Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase." EMBO Journal 4(1):77-84.
Levenson, R., Macara, I. G., Smith, R. L., Cantley, L. and Housman, D. (1982). "Role of mitochondrial membrane potential in the regulation of murine erythroleukemia cell differentiation." Cell 28(4):855-863.
Leveque, M., Marlin, S., Jonard, L., Procaccio, V., Reynier, P., et al. (2007). "Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip." European Journal of Human Genetics 15(11):1145-1155.
Levin, B. C., Cheng, H. and Reeder, D. J. (1999). "A human mitochondrial DNA standard reference material for quality control in forensic identification, medical diagnosis, and mutation detection." Genomics 55(2):135-146.
Levin, B. C., Holland, K. A., Hancock, D. K., Coble, M., Parsons, T. J., Kienker, L. J., Williams, D. W., Jones, M. and Richie, K. L. (2003). "Comparison of the complete mtDNA genome sequences of human cell lines - HL-60 and GM10742A - from individuals with pro-myelocytic leukemia and leber hereditary optic neuropathy, respectively, and the inclusion of HL-60 in the NIST human mitochondrial DNA standard reference material - SRM 2392-I." Mitochondrion 2(6):387-400.
Levin, B. C., Sekiguchi, K., Tully, L. A., Chen, T. L. and Gropman, A. (2005). "The common deletion found in patient reexamined after 33 years and comparison with complete mtDNA sequences of maternal relatives." Mitochondrion 5(6):403-410.
Levine, R. L., Williams, J. A., Stadtman, E. R. and Shacter, E. (1994). "Carbonyl assays for determination of oxidatively modified proteins." Methods in Enzymology 233:346-357.
Levin, L. A. (2007). "Mechanisms of retinal ganglion specific-cell death in Leber hereditary optic neuropathy." Transactions of the American Ophthalmological Society 105:379-391.
Levin, L., Zhidkov, I., Gurman, Y., Hawlena, H. and Mishmar, D. (2013). "Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease". Genome Biology and Evolution 5(5):876-890.
Levinger, L., Giege, R. and Florentz, C. (2003). "Pathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3' end processing efficiency in vitro." Nucleic Acids Research 31(7):1904-1912.
Levinger, L., Jacobs, O. and James, M. (2001). "In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNA(Ser(UCN)) precursor with the U7445C substitution, which causes non-syndromic deafness." Nucleic Acids Research 29(21):4334-4340.
Levinger, L., Morl, M. and Florentz, C. (2004). "Mitochondrial tRNA 3' end metabolism and human disease." Nucleic Acids Research 32(18):5430-5441.
Levitsky, S., Laurikka, J., Stewart, R. D., Campos, C. T., Lahey, S. J. and McCully, J. D. (2003). "Mitochondrial DNA deletions in coronary artery bypass grafting patients." European Journal of Cardio-Thoracic Surgery 24(5):777-784.
Levy-Lahad, E., Wasco, W., Poorkaj, P., Romano, D. M., Oshima, J., Pettingell, W. H., Yu, C. E., Jondro, P. D., Schmidt, S. D., Wang, K., Crowley, A. C., Fu, Y.-H., Guenette, S. Y., Galas, D., Nemens, E., Wijsman, E. M., Bird, T. D., Schellenberg, G. D. and Tanzi, R. E. (1995). "Candidate gene for the chromosome 1 familial Alzheimer's disease locus [see comments]." Science 269(5226):973-977.
Levy, R. J. and Deutschman, C. S. (2007). "Deficient mitochondrial biogenesis in critical illness: cause, effect, or epiphenomenon?" Critical Care 11(4):158.
Levy, S. E., Chen, Y.-S., Graham, B. H. and Wallace, D. C. (2000). "Expression and sequence analysis of the mouse adenine nucleotide translocase 1 and 2 genes." Gene 254(1-2):57-66.
Levy, S. E., Waymire, K. G., Kim, Y. L., MacGregor, G. R. and Wallace, D. C. (1999). "Transfer of chloramphenicol-resistant mitochondrial DNA into the chimeric mouse." Transgenic Research 8(2):137-145.
Lewis, D.W., Erickson, C.E. and Castora, F.J. (1994). "Mutation analysis of mitochondrial transfer RNA genes in Rett syndrome. Abtract 229." Pediatric Neurology 11(2):143-144.
Lewis, P.D., Baxter, P., Griffiths, A.P., Parry, J.M. and Skibinski, D.O. (2000). "Detection of damage to the mitochondrial genome in the oncocytic cells of Warthin's tumour." Journal of Pathology 191(3):274-281.
Lewis, P.D., Baxter, P.W., Griffiths, A.P., Parry, J.M. and Skibinski, D.O. (2000). "Authors' reply. Mitochondrial DNA damage and oncocytic neoplasia." Journal of Pathology 192(4):562-563.
Lewis, W., Copeland, W. C. and Day, B. J. (2001). "Mitochondrial DNA depletion, oxidative stress, and mutation: mechanisms of dysfunction from nucleoside reverse transcriptase inhibitors." Laboratory Investigation; a Journal of Technical Methods and Pathology 81(6):777-790.
Lewis, W., Day, B. J. and Copeland, W. C. (2003). "Mitochondrial toxicity of NRTI antiviral drugs: an integrated cellular perspective." Nature Reviews. Drug Discovery 2(10):812-822.
Lezza, A. M., Boffoli, D., Scacco, S., Cantatore, P. and Gadaleta, M. N. (1994). "Correlation between mitochondrial DNA 4977-bp deletion and respiratory chain enzyme activities in aging human skeletal muscles." Biochemical and Biophysical Research Communications 205(1):772-779.
Lezza, A. M., Cormio, A., Gerardi, P., Silvestri, G., Servidei, S., Serlenga, L., Cantatore, P. and Gadaleta, M. N. (1997). "Mitochondrial DNA deletions in oculopharyngeal muscular dystrophy." FEBS Letters 418(1-2):167-170.
Li, D., Sun, Y., Zhuang, Q., Song, Y., Wu, B., Jia, Z., Pan, H., Zhou, H., Hu, S., Zhang, B., Qiu, Y., Dai, Y., Chen, S., Xu, X., Zhu, X., Lin, A., Huang, W., Liu, Z. and Yan, Q. (2019). "Mitochondrial dysfunction caused by m.2336T>C mutation with hypertrophic cardiomyopathy in cybrid cell lines." Mitochondrion 46:313-320.
Li, F. X., Ji, F. Y., Zheng, S. Z., Yao, W., Xiao, Z. L. and Qian, G. S. (2011). "MtDNA haplogroups M7 and B in southwestern Han Chinese at risk for acute mountain sickness". Mitochondrion 11(4):553-558.
Li, H., Geng, J., Yu, H., Tang, X., Yang, X. and Xue, L. (2018). "Mitochondrial tRNA(Thr) 15909A>G mutation associated with hypertension in a Chinese Han pedigree." Biochemical and Biophysical Research Communications 495(1):574-581.
Li, H., Kolluri, S. K., Gu, J., Dawson, M. I., Cao, X., Hobbs, P. D., Lin, B., Chen, G.-Q., Lu, J.-S., Lin, F., Xie, Z., Fontana, J. A., Reed, J. C. and Zhang, X.-K. (2000). "Cytochrome c release and apoptosis induced by mitochondrial targeting of nuclear orphan receptor TR3." Science 289(5482):1159-1164.
Li, H., Wang, J., Wilhelmsson, H., Hansson, A., Thoren, P., Duffy, J., Rustin, P. and Larsson, N. G. (2000). "Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy." Proceedings of the National Academy of Sciences of the United States of America 97(7):3467-3472.
Li, J. Y., Hsieh, R. H., Peng, N. J., Lai, P. H., Lee, C. F., Lo, Y. K. and Wei, Y. H. (2007). "A follow-up study in a Taiwanese family with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome". Journal of the Formosan Medical Association 106(7):528-536.
Li, K., Hodge, J. A. and Wallace, D. C. (1990). "OXBOX, a positive transcriptional element of the heart-skeletal muscle ADP/ATP translocator gene." Journal of Biological Chemistry 265(33):20585-20588.
Li, K., Warner, C. K., Hodge, J. A., Minoshima, S., Kudoh, J., Fukuyama, R., Maekawa, M., Shimizu, Y., Shimizu, N. and Wallace, D. C. (1989). "A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed." Journal of Biological Chemistry 264(24):13998-14004.
Li, K., Wu, L., Liu, J., Lin, W., Qi, Q. and Zhao, T. (2020). "Maternally inherited diabetes mellitus associated with a novel m.15897G>A mutation in mitochondrial tRNA(Thr) gene." Journal of Diabetes Research 2020:2057187.
Li, M., Schonberg, A., Schaefer, M., Schroeder, R., Nasidze, I. and Stoneking, M. (2010). "Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes". American Journal of Human Genetics 87(2):237-249.
Li, M., Schroeder, R., Ko, A. and Stoneking, M. (2012). "Fidelity of capture-enrichment for mtDNA genome sequencing: influence of NUMTs." Nucleic Acids Research 40(18):e137.
Li, M., Schroder, R., Ni, S., Madea, B. and Stoneking, M. (2015). "Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations." Proceedings of the National Academy of Sciences of the United States of America 112(8):2491-2496.
Li, Q., Lin, K., Sun, H., Liu, S., Huang, K., Huang, X., Chu, J. and Yang, Z. (2016). "Mitochondrial haplogroup M9a1a1c1b is associated with hypoxic adaptation in the Tibetans." Journal of Human Genetics 61(12):1021-1026.
Li, R. and Guan, M. X. (2010). "Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes." Molecular and Cellular Biology 30(9):2147-2154; erratum at http://mcb.asm.org/content/2137/2118/e00335-00317
Li, R. and Guan, M. X. (2017). "Correction for Li and Guan, "Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNA(Leu(UUR)) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes"." Molecular and Cellular Biology 37(18):erratum.
Li, R., Greinwald, J. H., Jr., Yang, L., Choo, D. I., Wenstrup, R. J. and Guan, M. X. (2004). "Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss." Journal of Medical Genetics 41(8):615-620.
Li, R., Ishikawa, K., Deng, J. H., Heman-Ackah, S., Tamagawa, Y., Yang, L., Bai, Y., Ichimura, K. and Guan, M. X. (2005). "Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNA(Ser(UCN)) gene in a Japanese family." Biochemical and Biophysical Research Communications 328(1):32-37.
Li, R., Liu, Y., Li, Z., Yang, L., Wang, S. and Guan, M. X. (2009). "Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family." Hypertension 54(2):329-337.
Li, R., Qu, J., Zhou, X., Tong, Y., Hu, Y., Qian, Y., Lu, F., Mo, J. Q., West, C. E. and Guan, M. X. (2006). "The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family." Gene 376(1):79-86.
Li, R., Xing, G., Yan, M., Cao, X., Liu, X. Z., Bu, X. and Guan, M. X. (2004). "Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss." American Journal of Medical Genetics 124A(2):113-117.
Li, S., Besenbacher, S., Li, Y., Kristiansen, K., Grarup, N., Albrechtsen, A., Sparso, T., Korneliussen, T., Hansen, T., Wang, J., Nielsen, R., Pedersen, O., Bolund, L. and Schierup, M. H. (2014). "Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population." European Journal of Human Genetics 22(8):1040-1045.
Li, W., Han, D., Yuan, H. and Cao, J. (2004). "[Pedigree analysis and sequence analysis of mtDNA 12srRNA, tRNA(Leu(UUR)), tRNA(Ser(UCN)) gene in nonsyndromic inherited deafness pedigrees]." Lin Chuang Er Bi Yan Hou Ke Za Zhi 18(10):582-585, 589.
Li, W., Wen, C., Li, W., Wang, H., Guan, X., Zhang, W., Ye, W. and Lu, J. (2015). "The tRNA(Gly) T10003C mutation in mitochondrial haplogroup M11b in a Chinese family with diabetes decreases the steady-state level of tRNA(Gly), increases aberrant reactive oxygen species production, and reduces mitochondrial membrane potential." Molecular and Cellular Biochemistry 408(1-2):171-179.
Li, X. and Guan, M. X. (2002). "A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation." Molecular and Cellular Biology 22(21):7701-7711.
Li, X. J., Li, S. H., Sharp, A. H., Nucifora, F. C., Jr., Schilling, G., Lanahan, A., Worley, P., Snyder, S. H. and Ross, C. A. (1995). "A huntingtin-associated protein enriched in brain with implications for pathology." Nature 378(6555):398-402.
Li, X. J., Sharp, A. H., Li, S. H., Dawson, T. M., Snyder, S. H. and Ross, C. A. (1996). "Huntingtin-associated protein (HAP1): discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthase." Proceedings of the National Academy of Sciences of the United States of America 93(10):4839-4844.
Li, X., Fischel-Ghodsian, N., Schwartz, F., Yan, Q., Friedman, R. A. and Guan, M. X. (2004). "Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness." Nucleic Acids Research 32(3):867-877.
Li, X., Li, R., Lin, X. and Guan, M. X. (2002). "Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation." Journal of Biological Chemistry 277(30):27256-27264.
Li, X., Zhang, L. S. and Guan, M. X. (2005). "Cloning and characterization of mouse mTERF encoding a mitochondrial transcriptional termination factor." Biochemical and Biophysical Research Communications 326(2):505-510.
Li, Y. C., Wang, H. W., Tian, J. Y., Liu, L. N., Yang, L. Q., Zhu, C. L., Wu, S. F., Kong, Q. P. and Zhang, Y. P. (2015). "Ancient inland human dispersals from Myanmar into interior East Asia since the Late Pleistocene." Scientific Reports 5:9473.
Li, Y. J., Minear, M. A., Qin, X., Rimmler, J., Hauser, M. A., Allingham, R. R., Igo, R. P., Lass, J. H., Iyengar, S. K., Klintworth, G. K., Afshari, N. A., Gregory, S. G. and Consortium, F. G. (2014). "Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy." Investigative Ophthalmology and Visual Science 55(7):4577-4584.
Li, Y. Y., Hengstenberg, C. and Maisch, B. (1995). "Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy." Biochemical and Biophysical Research Communications 210(1):211-218.
Li, Y. Y., Maisch, B., Rose, M. L. and Hengstenberg, C. (1997). "Point mutations in mitochondrial DNA of patients with dilated cardiomyopathy." Journal of Molecular and Cellular Cardiology 29(10):2699-2709.
Li, Y., D'Aurelio, M., Deng, J. H., Park, J. S., Manfredi, G., Hu, P., Lu, J. and Bai, Y. (2007). "An assembled complex IV maintains the stability and activity of complex I in mammalian mitochondria." The Journal of Biological Chemistry 282(24):17557-17562.
Li, Y., Huang, T. T., Carlson, E. J., Melov, S., Ursell, P. C., Olson, J. L., Noble, L. J., Yoshimura, M. P., Berger, C., Chan, P. H., Wallace, D. C. and Epstein, C. J. (1995). "Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase." Nature Genetics 11(4):376-381.
Li, Y., Tang, J., Pan, Z., Xiao, P., Zhou, D., Jin, L., Pan, M. and Lu, Z. (2011). "Single nucleotide polymorphism genotyping and point mutation detection by ligation on microarrays." Journal of Nanoscience and Nanotechnology 11(2):994-1003.
Li, Z., Li, R., Chen, J., Liao, Z., Zhu, Y., Qian, Y., Xiong, S., Heman-Ackah, S., Wu, J., Choo, D. I. and Guan, M. X. (2005). "Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss." Human Genetics 117(1):9-15.
Li, Z., Liu, Y., Yang, L., Wang, S. and Guan, M. X. (2008). "Maternally inherited hypertension is associated with the mitochondrial tRNA(Ile) A4295G mutation in a Chinese family." Biochemical and Biophysical Research Communications 367(4):906-911.
Lian, L. H. and Koh, C. L. (2005). "Genetic polymorphisms in mitochondrial DNA hypervariable regions I, II and III of the Malaysian population." Asia-Pacific Journal of Molecular Biology and Biotechnology 13(2):79-85.
Liang, B., Ardestani, S., Chow, H. H., Eskelson, C. and Watson, R. R. (1996). "Vitamin E deficiency and immune dysfunction in retrovirus-infected C57BL/6 mice are prevented by T-cell receptor peptide treatment." The Journal of Nutrition 126(5):1389-1397.
Liang, B., Chung, S., Araghiniknam, M., Lane, L. C. and Watson, R. R. (1996). "Vitamins and immunomodulation in AIDS." Nutrition 12(1):1-7.
Liang, B., Wang, J. Y. and Watson, R. R. (1996). "Murine AIDS, a key to understanding retrovirus-induced immunodeficiency." Viral Immunology 9(4):225-239.
Liang, B., Zhang, Z., Araghiniknam, M., Eskelson, C. and Watson, R. R. (1997). "Prevention of retrovirus-induced aberrant cytokine secretion, excessive lipid peroxidation, and tissue vitamin E deficiency by T cell receptor peptide treatments in C57BL/6 mice." Proceedings of the Society for Experimental Biology and Medicine 214(1):87-94.
Liang, B. C. and Hays, L. (1996). "Mitochondrial DNA copy number changes in human gliomas." Cancer Letters 105(2):167-173.
Liang, M. H. and Wong, L. J. (1998). "Yield of mtDNA mutation analysis in 2,000 patients." American Journal of Medical Genetics 77(5):395-400.
Liang, M. H. and Wong, L. J. (1998). "Novel nucleotide substitutions in mitochondrial DNA." Journal of Inherited Metabolic Disease 21(8):871-873.
Liang, M. H., Johnson, D. R. and Wong, L. J. (1998). "Preparation and validation of PCR-generated positive controls for diagnostic dot blotting [published erratum appears in Clin Chem 1998 Sep;44(9):2070]." Clinical Chemistry 44(7):1578-1579.
Liang, M., Guan, M., Zhao, F., Zhou, X., Yuan, M., Tong, Y., Yang, L., Wei, Q. P., Sun, Y. H., Lu, F., Qu, J. and Guan, M. X. (2009). "Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation." Biochemical and Biophysical Research Communications 383(3):286-292.
Liang, M., Ji, C., Zhang, L., Wang, X., Hu, C., Zhang, J., Zhu, Y., Mo, J. Q. and Guan, M. X. (2022). "Leber's hereditary optic neuropathy (LHON)-associated ND6 14 484 T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy." Human Molecular Genetics ePub ahead of print, https://doi.org/10.1093/hmg/ddac109
Liang, M., Jiang, P., Li, F., Zhang, J., Ji, Y., He, Y., Xu, M., Zhu, J., Meng, X., Zhao, F., Tong, Y., Liu, X., Sun, Y., Zhou, X., Mo, J. Q., Qu, J. and Guan, M. X. (2014). "Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy." Investigative Ophthalmology and Visual Science 55(3):1321-1331.
Liang, P. and Pardee, A. B. (1992). "Differential display of eukaryotic messenger RNA by means of the polymerase chain reaction." Science 257(5072):967-971.
Liang, P., Hughes, V. and Fukagawa, N. K. (1997). "Increased prevalence of mitochondrial DNA deletions in skeletal muscle of older individuals with impaired glucose tolerance: possible marker of glycemic stress [published erratum appears in Diabetes 1997 Sep;46(9):1532]." Diabetes 46(5):920-923.
Liao, H. X. and Spremulli, L. L. (1990). "Effects of length and mRNA secondary structure on the interaction of bovine mitochondrial ribosomes with messenger RNA." Journal of Biological Chemistry 265(20):11761-11765.
Liao, W. Q., Pang, Y., Yu, C. A., Wen, J. Y., Zhang, Y. G. and Li, X. H. (2008). "Novel mutations of mitochondrial DNA associated with type 2 diabetes in Chinese Han population." The Tohoku Journal of Experimental Medicine 215(4):377-384.
Liao, Z., Zhao, J., Zhu, Y., Yang, L., Yang, A., Sun, D., Zhao, Z., Wang, X., Tao, Z., Tang, X., Wang, J., Guan, M., Chen, J., Li, Z., Lu, J. and Guan, M. X. (2007). "The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family." Biochemical and Biophysical Research Communications 362(3):670-676.
Lifton, R. P. (1995). "Genetic determinants of human hypertension." Proceedings of the National Academy of Sciences of the United States of America 92(19):8545-8451.
Lifton, R. P. (1996). "Molecular genetics of human blood pressure variation." Science 272(5262):676-680.
Lightowlers, R. N. and Chrzanowska-Lightowlers, Z. M. (2010). "Terminating human mitochondrial protein synthesis: a shift in our thinking." RNA Biology 7(3):282-286.
Lightowlers, R. N., Chinnery, P. F., Turnbull, D. M. and Howell, N. (1997). "Mammalian mitochondrial genetics: heredity, heteroplasmy and disease." Trends in Genetics 13(11):450-455.
Lightowlers, R. N., Jacobs, H. T. and Kajander, O. A. (1999). "Mitochondrial DNA--all things bad?" Trends in Genetics 15(3):91-93.
Lightowlers, R. N., Taylor, R. W. and Turnbull, D. M. (2015). "Mutations causing mitochondrial disease: What is new and what challenges remain?" Science 349(6255):1494-1499.
Liguori, R., Mazzaccara, C., Pasanisi, F., Buono, P., Oriani, G., Finelli, C., Contaldo, F. and Sacchetti, L. (2006). "The mtDNA 15497 G/A polymorphism in cytochrome b in severe obese subjects from Southern Italy." Nutrition, Metabolism, and Cardiovascular Diseases 16(7):466-470.
Like, A. A. and Rossini, A. A. (1976). "Streptozotocin-induced pancreatic insulitis: new model of diabetes mellitus." Science 193(4251):415-417.
Lim, A. Z., Blakely, E. L., Baty, K., He, L., Hopton, S., Falkous, G., McWilliam, K., Cozens, A., McFarland, R. and Taylor, R. W. (2019). "A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes." Mitochondrion 47:18-23.
Lim, B. C., Park, J. D., Hwang, H., Kim, K. J., Hwang, Y. S., Chae, J. H., Cheon, J. E., Kim, I. O., Lee, R. and Moon, H. K. (2009). "Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies." Journal of Child Neurology 24(7):828-832.
Lim, K. S., Naviaux, R. K. and Haas, R. H. (2009). "Determination of DNA mutation load in human tissues using denaturing HPLC-based heteroduplex analysis." Methods in Molecular Biology 554:287-299.
Lim, K. S., Naviaux, R. K., Wong, S. and Haas, R. H. (2008). "Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation." Journal of Molecular Diagnostics 10(1):102-108.
Lim, P. S., Ma, Y. S., Cheng, Y. M., Chai, H., Lee, C. F., Chen, T. L. and Wei, Y. H. (2002). "Mitochondrial DNA mutations and oxidative damage in skeletal muscle of patients with chronic uremia." Journal of Biomedical Science 9(6 Pt 1):549-560.
Lima, J., Maximo, V., Soares, P., Williams, D., Bogdanova, T., Thomas, G. A. and Sobrinho-Simoes, M. (2003). "Re: Lohrer,H.D., Hieber,L. and Zitzelsberger,H. (2002) Differential mutation frequency in mitochondrial DNA from thyroid tumours. Carcinogenesis, 23, 1577-1582." Carcinogenesis 24(6):1155.
Limbach, K. J. and Wu, R. (1985). "Characterization of a mouse somatic cytochrome c gene and three cytochrome c pseudogenes." Nucleic Acids Research 13(2):617-631.
Limongelli, A., Schaefer, J., Jackson, S., Invernizzi, F., Kirino, Y., Suzuki, T., Reichmann, H. and Zeviani, M. (2004). "Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome." Journal of Medical Genetics 41(5):342-349.
Limongelli, A. and Tiranti, V. (2002). "Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA." Mitochondrion 2(1-2):39-46.
Lin, D., Chang, Y. J., Strauss, J. F. d. and Miller, W. L. (1993). "The human peripheral benzodiazepine receptor gene: cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia." Genomics 18(3):643-650.
Lin, C. S., Sharpley, M. S., Fan, W., Waymire, K. G., Sadun, A., Carelli, V., Ross-Cisneros, F. N., Baciu, P., Sung, E., McManus, M. J., Pan, B. X., Gil, D. W., MacGregor, G. R. and Wallace, D. C. (2012). "A mouse mtDNA mutant model of Leber's hereditary optic neuropathy". Proceedings of the National Academy of Sciences of the United States of America 109(49):20065-20070.
Lin, D., Chang, Y. J., Strauss, J. F. I. and Miller, W. L. (1993). "The human peripheral benzodiazepine receptor gene: cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia." Genomics 18(3):643-650.
Lin, F., Lin, R., Wisniewski, H. M., Hwang, Y., Grundke-Iqbal, I., Healy-Louie, G. and Iqbal, K. (1992). "Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains." Biochemical and Biophysical Research Communications 182(1):238-246.
Lin, J., Zhao, C. B., Lu, J. H., Wang, H. J., Zhu, W. H., Xi, J. Y., Lu, J., Luo, S. S., Ma, D., Wang, Y., Xiao, B. G. and Lu, C. Z. (2014). "Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS." Mitochondrial DNA 25(1):56-62.
Lin, L., Cui, P., Qiu, Z., Wang, M., Yu, Y., Wang, J., Sun, Q. and Zhao, H. (2019). "The mitochondrial tRNA(Ala) 5587T>C and tRNA(Leu(CUN)) 12280A>G mutations may be associated with hypertension in a Chinese family." Experimental and Therapeutic Medicine 17(3):1855-1862.
Lin, M. T., Simon, D. K., Ahn, C. H., Kim, L. M. and Beal, M. F. (2002). "High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer's disease brain." Human Molecular Genetics 11(2):133-145.
Lin, P. H., Lee, S. H., Su, C. P. and Wei, Y. H. (2003). "Oxidative damage to mitochondrial DNA in atrial muscle of patients with atrial fibrillation." Free Radical Biology and Medicine 35(10):1310-1318.
Lin, T. K., Chen, S. D., Wang, P. W., Wei, Y. H., Lee, C. F., Chen, T. L., Chuang, Y. C., Tan, T. Y., Chang, K. C. and Liou, C. W. (2005). "Increased oxidative damage with altered antioxidative status in type 2 diabetic patients harboring the 16189 T to C variant of mitochondrial DNA." Annals of the New York Academy of Sciences 1042:64-69.
Lin, X., Wells, D. E., Kimberling, W. J. and Kumar, S. (1999). "Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13." Human Heredity 49(2):75-80.
Lin, Y., Xu, X., Zhao, D., Liu, F., Luo, Y., Du, J., Wang, D., Ji, K., Zhao, Y. and Yan, C. (2020). "A novel m.11406T>A mutation in mitochondrial ND4 gene causes MELAS syndrome." Mitochondrion 54:57-64.
Lin, Y. H., Wang, N. K., Yeung, L., Lai, C. C. and Chuang, L. H. (2018). "Juvenile open-angle glaucoma associated with Leber's hereditary optic neuropathy: a case report and literature review." BMC Ophthalmology 18(1):323.
Lind, J. M., Hutcheson-Dilks, H. B., Williams, S. M., Moore, J. H., Essex, M., Ruiz-Pesini, E., Wallace, D. C., Tishkoff, S. A., O'Brien, S. J. and Smith, M. W. (2007). "Elevated male European and female African contributions to the genomes of African American individuals." Human Genetics 120(5):713-722.
Lindberg, C., Moslemi, A. R. and Oldfors, A. (2008). "MELAS syndrome in a patient with a point mutation in MTTS1." Acta Neurologica Scandinavica 117(2):128-132.
Lindroos, M. M., Parkka, J. P., Taittonen, M. T., Iozzo, P., Karppa, M., Hassinen, I. E., Knuuti, J., Nuutila, P. and Majamaa, K. (2016). "Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA." Journal of Inherited Metabolic Disease 39(1):67-74.
Lindholm, E., Cavelier, L., Howell, W. M., Eriksson, I., Jalonen, P., Adolfsson, R., Blackwood, D. H., Muir, W. J., Brookes, A. J., Gyllensten, U. and Jazin, E. E. (1997). "Mitochondrial sequence variants in patients with schizophrenia." European Journal of Human Genetics 5(6):406-412.
Lindholm, H., Lofberg, M., Somer, H., Naveri, H. and Sovijarvi, A. (2004). "Abnormal blood lactate accumulation after exercise in patients with multiple mitochondrial DNA deletions and minor muscular symptoms." Clinical Physiology and Functional Imaging 24(2):109-115.
Lindner, A., Hofmann, E., Naumann, M., Becker, G. and Reichmann, H. (1997). "Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients." Molecular and Cellular Biochemistry 174(1-2):297-303.
Lindroos, M. M., Parkka, J. P., Taittonen, M. T., Iozzo, P., Karppa, M., Hassinen, I. E., Knuuti, J., Nuutila, P. and Majamaa, K. (2016). "Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA." Journal of Inherited Metabolic Disease 39(1):67-74.
Ling, J., Roy, H., Qin, D., Rubio, M. A., Alfonzo, J. D., Fredrick, K. and Ibba, M. (2007). "Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome." Proceedings of the National Academy of Sciences 104(39):15299-15304.
Linke, P. and Weiss, H. (1986). "Reconstitution of ubiquinol-cytochrome c reductase from Neurospora mitochondria with regard to subunits I and II." Methods in Enzymology 126:201-210.
Linnane, A. W., Baumer, A., Maxwell, R. J., Preston, H., Zhang, C. and Marzuki, S. (1990). "Mitochondrial gene mutation: the aging process and degenerative diseases." Biochemistry International 22(6):1067-1076.
Linnane, A. W., Kovalenko, S. and Gingold, E. B. (1998). "The universality of bioenergetic disease. Age-associated cellular bioenergetic degradation and amelioration therapy." Annals of the New York Academy of Sciences 854:202-213.
Linnane, A. W., Marzuki, S., Ozawa, T. and Tanaka, M. (1989). "Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases." Lancet 1(8639):642-645.
Linnane, A. W., Zhang, C., Baumer, A. and Nagley, P. (1992). "Mitochondrial DNA mutation and the ageing process: bioenergy and pharmacological intervention." Mutation Research 275(3-6):195-208.
Linnartz, B., Anglmayer, R. and Zanssen, S. (2004). "Comprehensive scanning of somatic mitochondrial DNA alterations in acute leukemia developing from myelodysplastic syndromes." Cancer Research 64(6):1966-1971.
Liolitsa, D. and Hanna, M. G. (2002). "Models of mitochondrial disease." International Review of Neurobiology 53:429-466.
Liolitsa, D., Rahman, S., Benton, S., Carr, L. J. and Hanna, M. G. (2003). "Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?" Annals of Neurology 53(1):128-132.
Liou, C. W., Chen, J. B., Tiao, M. M., Weng, S. W., Huang, T. L., Chuang, J. H., Chen, S. D., Chuang, Y. C., Lee, W. C., Lin, T. K. and Wang, P. W. (2012). "Mitochondrial DNA coding and control region variants as genetic risk factors for type 2 diabetes." Diabetes 61(10):2642-2651.
Liou, C. W., Huang, C. C., Chee, E. C., Jong, Y. J., Tsai, J. L., Pang, C. Y., Lee, H. C. and Wei, Y. H. (1994). "MELAS syndrome: correlation between clinical features and molecular genetic analysis." Acta Neurologica Scandinavica 90(5):354-359.
Liou, C. W., Huang, C. C., Lee, C. F., Lin, T. K. and Wei, Y. H. (2003). "Low antioxidant content and mutation load in mitochondrial DNA A3243G mutation-related diabetes mellitus." Journal of the Formosan Medical Association 102(8):527-533.
Liou, C. W., Lin, T. K., Chen, J. B., Tiao, M. M., Weng, S. W., Chen, S. D., Chuang, Y. C., Chuang, J. H. and Wang, P. W. (2010). "Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells." Journal of Medical Genetics 47(11):723-728.
Liou, C. W., Lin, T. K., Huang, F. M., Chen, T. L., Lee, C. F., Chuang, Y. C., Tan, T. Y., Chang, K. C. and Wei, Y. H. (2004). "Association of the mitochondrial DNA 16189 T to C variant with lacunar cerebral infarction: evidence from a hospital-based case-control study." Annals of the New York Academy of Sciences 1011:317-324.
Liou, C. W., Lin, T. K., Huei Weng, H., Lee, C. F., Chen, T. L., Wei, Y. H., Chen, S. D., Chuang, Y. C., Weng, S. W. and Wang, P. W. (2007). "A common mitochondrial DNA variant and increased body mass index as associated factors for development of type 2 diabetes: Additive effects of genetic and environmental factors." The Journal of Clinical Endocrinology and Metabolism 92(1):235-239.
Lippold, S., Xu, H., Ko, A., Li, M., Renaud, G., Butthof, A., Schroder, R. and Stoneking, M. (2014). "Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences." Investigative Genetics 5.
Littlefield, J. W. (1964). Nature 203:1142-1144.
Littlefield, N. A., Blackwell, B. N., Hewitt, C. C. and Gaylor, D. W. (1985). "Chronic toxicity and carcinogenicity studies of gentian violet in mice." Fundam Appl Toxicol 5(5):902-912.
Littlefield, N. A., Gaylor, D. W., Blackwell, B. N. and Allen, R. R. (1989). "Chronic toxicity/carcinogenicity studies of sulphamethazine in B6C3F1 mice." Food & Chemical Toxicology 27(7):455-463.
Liu, A. M., Mak, S. C., Tsai, C. R. and Chi, C. S. (1998). "Childhood MELAS syndrome presenting with seizure and cortical blindness: a case report." Chung Hua i Hsueh Tsa Chih - Chinese Medical Journal 61(12):730-735.
Liu, C., Yang, Q., Hwang, S. J., Sun, F., Johnson, A. D., Shirihai, O. S., Vasan, R. S., Levy, D. and Schwartz, F. (2012). "Association of genetic variation in the mitochondrial genome with blood pressure and metabolic traits." Hypertension 60(4):949-956.
Liu, C. H., Liou, C. W., Liu, C. H., Kuo, H. C., Chu, C. C. and Huang, C. C. (2011). "Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient". Acta Neurologica Taiwanica 20(1):53-58.
Liu, C. S., Chen, H. W., Lii, C. K., Tsai, C. S., Kuo, C. L. and Wei, Y. H. (2002). "Alterations of plasma antioxidants and mitochondrial DNA mutation in hair follicles of smokers." Environmental and Molecular Mutagenesis 40(3):168-174.
Liu, C. S., Cheng, W. L., Kuo, S. J., Li, J. Y., Soong, B. W. and Wei, Y. H. (2008). "Depletion of mitochondrial DNA in leukocytes of patients with poly-Q diseases." Journal of the Neurological Sciences 264(1-2):18-21.
Liu, C. S., Kao, S. H. and Wei, Y. H. (1997). "Smoking-associated mitochondrial DNA mutations in human hair follicles." Environmental & Molecular Mutagenesis 30(1):47-55.
Liu, C. S., Tsai, C. S., Kuo, C. L., Chen, H. W., Lii, C. K., Ma, Y. S. and Wei, Y. H. (2003). "Oxidative stress-related alteration of the copy number of mitochondrial DNA in human leukocytes." Free Radical Research 37(12):1307-1317.
Liu, C. S., Wu, S. L., Cheng, W. L., Lin, T. T., Jhang, K. M. and Kuo, S. J. (2013). "Family migraine with mitochondrial DNA A3111T mutation " The Changhua Journal of Medicine 11:63-67.
Liu, C. Y., Lee, C. F. and Wei, Y. H. (2009). "Activation of PKCdelta and ERK1/2 in the sensitivity to UV-induced apoptosis of human cells harboring 4977 bp deletion of mitochondrial DNA." Biochimica et Biophysica Acta 1792(8):783-790.
Liu, C. Y., Lee, C. F., Hong, C. H. and Wei, Y. H. (2004). "Mitochondrial DNA mutation and depletion increase the susceptibility of human cells to apoptosis." Annals of the New York Academy of Sciences 1011:133-145.
Liu, G., Shen, X., Sun, Y., Lv, Q., Li, Y. and Du, A. (2020). "Heteroplasmy and phenotype spectrum of the mitochondrial tRNA(Leu (UUR)) gene m.3243A>G mutation in seven Han Chinese families." Journal of the Neurological Sciences 408:116562.
Liu, H., Li, R., Li, W., Wang, M., Ji, J., Zheng, J., Mao, Z., Mo, J. Q., Jiang, P., Lu, J. and Guan, M. X. (2015). "Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNA(Gly) gene." Mitochondrion 21:49-57.
Liu, H. L., Yuan, J. J., Zhang, Y., Tian, Z., Li, X., Wang, D., Du, Y. Y., Song, L. and Li, B. (2020). "Factors associated with rapid improvement in visual acuity in patients with Leber's hereditary optic neuropathy after gene therapy." Acta Ophthalmologica (Copenhagen) 98(6):e730–e733.
Liu, J., Zou, Y., Tang, Y., Xi, M., Xie, L., Zhang, Q. and Gong, J. (2016). "Circulating cell-free mitochondrial deoxyribonucleic acid is increased in coronary heart disease patients with diabetes mellitus." Journal of Diabetes Investigation 7(1):109-114.
Liu, K., Zhao, H., Ji, K. and Yan, C. (2014). "MERRF/MELAS overlap syndrome due to the m.3291T>C mutation." Metabolic Brain Disease 29(1):139-144.
Liu, P. K., Hsu, C. Y., Dizdaroglu, M., Floyd, R. A., Kow, Y. W., Karakaya, A., Rabow, L. E. and Cui, J. K. (1996). "Damage, repair, and mutagenesis in nuclear genes after mouse forebrain ischemia-reperfusion." Journal of Neuroscience 16(21):6795-6806.
Liu, S., Bai, Y., Huang, J., Zhao, H., Zhang, X., Hu, S. and Wei, Y. (2013). "Do mitochondria contribute to left ventricular non-compaction cardiomyopathy? New findings from myocardium of patients with left ventricular non-compaction cardiomyopathy." Molecular Genetics and Metabolism 109(1):100-106.
Liu, V. W., Shi, H. H., Cheung, A. N., Chiu, P. M., Leung, T. W., Nagley, P., Wong, L. C. and Ngan, H. Y. (2001). "High incidence of somatic mitochondrial DNA mutations in human ovarian carcinomas." Cancer Research 61(16):5998-6001.
Liu, V. W., Wang, Y., Yang, H. J., Tsang, P. C., Ng, T. Y., Wong, L. C., Nagley, P. and Ngan, H. Y. (2003). "Mitochondrial DNA variant 16189T>C is associated with susceptibility to endometrial cancer." Human Mutation 22(2):173-174.
Liu, V. W., Yang, H. J., Wang, Y., Tsang, P. C., Cheung, A. N., Chiu, P. M., Ng, T. Y., Wong, L. C., Nagley, P. and Ngan, H. Y. (2003). "High frequency of mitochondrial genome instability in human endometrial carcinomas." British Journal of Cancer 89(4):697-701.
Liu, V. W., Zhang, C. and Nagley, P. (1998). "Mutations in mitochondrial DNA accumulate differentially in three different human tissues during ageing." Nucleic Acids Research 26(5):1268-1275.
Liu, V. W., Zhang, C., Linnane, A. W. and Nagley, P. (1997). "Quantitative allele-specific PCR: demonstration of age-associated accumulation in human tissues of the A-->G mutation at nucleotide 3243 in mitochondrial DNA." Human Mutation 9(3):265-271.
Liu, V. W., Zhang, C., Pang, C. Y., Lee, H. C., Lu, C. Y., Wei, Y. H. and Nagley, P. (1998). "Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages." Human Mutation 11(3):191-196.
Liu, X. L., Zhou, X., Zhou, J., Zhao, F., Zhang, J., Li, C., Ji, Y., Zhang, Y., Wei, Q. P., Sun, Y. H., Yang, L., Lin, B., Yuan, Y., Li, Y., Qu, J. and Guan, M. X. (2011). "Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families". Ophthalmology 118(5):978-985.
Liu, X. Q., Shen, S. Q., Yang, G. C. and Liu, Q. (2019). "Mitochondrial A3243G mutation causes mitochondrial encephalomyopathy in a Chinese patient: Case report." Medicine (Baltimore) 98(19):e15534.
Liu, X., Kim, C. N., Yang, J., Jemmerson, R. and Wang, X. (1996). "Induction of apoptotic program in cell-free extracts: requirement for dATP and cytochrome c." Cell 86(1):147-157.
Liu, Y., Gao, L., Li, Y., Li, Z., Xu, H., Wang, L., Chen, R., Liu, M., Wen, Y., Guan, M. and Wang, S. (2009). "Voltage-dependent anion channel (VDAC) is involved in apoptosis of cell lines carrying the mitochondrial DNA mutation." BMC Medical Genetics 10:114.
Liu, Y., Gao, L., Xue, Q., Li, Z., Wang, L., Chen, R., Liu, M., Wen, Y., Guan, M., Li, Y. and Wang, S. (2011). "Voltage-dependent anion channel involved in the mitochondrial calcium cycle of cell lines carrying the mitochondrial DNA A4263G mutation." Biochemical and Biophysical Research Communications 404(1):364-369.
Liu, Y., Li, R., Li, Z., Wang, X. J., Yang, L., Wang, S. and Guan, M. X. (2009). "Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree." Hypertension 53(6):1083-1090.
Liu, Y., Li, Z., Yang, L., Wang, S. and Guan, M. X. (2008). "The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertension." Biochemical and Biophysical Research Communications 368(1):18-22.
Liu, Y., Li, Y., Zhu, C., Tian, L., Guan, M. and Chen, Y. (2017). "Mitochondrial biogenesis dysfunction and metabolic dysfunction from a novel mitochondrial tRNA(Met) 4467 C>A mutation in a Han Chinese family with maternally inherited hypertension." Scientific Reports 7(1):3034.
Liu, Y., Xue, J., Zhao, D., Chen, L., Yuan, Y. and Wang, Z. (2014). "Audiological evaluation in Chinese patients with mitochondrial encephalomyopathies." Chinese Medical Journal (English) 127(12):2304-2309.
Liu, Y., Zhuang, S. L., Tong, Y., Qu, J., Zhou, X. T., Zhao, F. X., Zhang, J. J., Zhang, Y. M., Zhang, Y. and Guan, M. X. (2010). "[Leber's hereditary optic neuropathy and limbs abnormity claudication may be associated with the mitochondrial ND1 T3866C mutation]." Yi Chuan 32(2):141-147.
Liu, Z., Song, Y., Li, D., He, X., Li, S., Wu, B., Wang, W., Gu, S., Zhu, X., Wang, X., Zhou, Q., Dai, Y. and Yan, Q. (2014). "The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy." Journal of Medical Genetics 51(3):176-184.
Livesey, K. J., Wimhurst, V. L., Carter, K., Worwood, M., Cadet, E., Rochette, J., Roberts, A. G., Pointon, J. J., Merryweather-Clarke, A. T., Bassett, M. L., Jouanolle, A. M., Mosser, A., David, V., Poulton, J. and Robson, K. J. (2004). "The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading." Journal of Medical Genetics 41(1):6-10.
Livingstone, I. R., Mastaglia, F. L., Howe, J. W. and Aherne, G. E. (1980). "Leber's optic neuropathy: clinical and visual evoked response studies in asymptomatic and symptomatic members of a 4-generation family." British Journal of Ophthalmology 64(10):751-757.
Llamas, B., Fehren-Schmitz, L., Valverde, G., Soubrier, J., Mallick, S., et al. (2016). "Ancient mitochondrial DNA provides high-resolution time scale of the peopling of the Americas." Science Advances 2(4):e1501385.
Llòria, X., Catarino, C., Downes, S., Vincent, A., Matloob, S., Silva, M. and Klopstock, T. (2017). "Clinical experience with idebenone in the treatment of patients harboring rare mutations related to Leber's hereditary optic neuropathy (LHON)." Acta Ophthalmologica 95(S259):Abstract from the 2017 European Association for Vision and Eye Research Conference.
Lockhart, D. J., Dong, H., Byrne, M. C., Follettie, M. T., Gallo, M. V., Chee, M. S., Mittmann, M., Wang, C., Kobayashi, M., Horton, H. and Brown, E. L. (1996). "Expression monitoring by hybridization to high-density oligonucleotide arrays." Nature Biotechnology 14(13):1675-1680.
Lodi, R., Carelli, V., Cortelli, P., Iotti, S., Valentino, M. L., Barboni, P., Pallotti, F., Montagna, P. and Barbiroli, B. (2002). "Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy." Journal of Neurology, Neurosurgery and Psychiatry 72(6):805-807.
Lodi, R., Montagna, P., Iotti, S., Zaniol, P., Barboni, P., Puddu, P. and Barbiroli, B. (1994). "Brain and muscle energy metabolism studied in vivo by 31P-magnetic resonance spectroscopy in NARP syndrome." Journal of Neurology, Neurosurgery and Psychiatry 57(12):1492-1496.
Lodi, R., Taylor, D. J., Tabrizi, S. J., Kumar, S., Sweeney, M., Wood, N. W., Styles, P., Radda, G. K. and Schapira, A. H. (1997). "In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy." Annals of Neurology 42(4):573-579.
Lodi, R., Tonon, C., Valentino, M. L., Manners, D., Testa, C., Malucelli, E., La Morgia, C., Barboni, P., Carbonelli, M., Schimpf, S., Wissinger, B., Zeviani, M., Baruzzi, A., Liguori, R., Barbiroli, B. and Carelli, V. (2011). "Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations." Archives of Neurology 68(1):67-73.
Loeb, L. A., Wallace, D. C. and Martin, G. M. (2005). "The mitochondrial theory of aging and its relationship to reactive oxygen species damage and somatic mtDNA mutations." Proceedings of the National Academy of Sciences of the United States of America 102(52):18769-18770.
Loeffen, J. L., Triepels, R. H., van den Heuvel, L. P., Schuelke, M., Buskens, C. A., Smeets, R. J., Trijbels, J. M. and Smeitink, J. A. (1998). "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed." Biochemical and Biophysical Research Communications 253(2):415-422.
Loeffen, J., Smeets, R., Smeitink, J., Triepels, R., Sengers, R., Trijbels, F. and van den Heuvel, L. (1999). "The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients." Journal of Inherited Metabolic Disease 22(1):19-28.
Loeffen, J., Smeitink, J., Triepels, R., Smeets, R., Schuelke, M., Sengers, R., Trijbels, F., Hamel, B., Mullaart, R. and van den Heuvel, L. (1998). "The first nuclear-encoded complex I mutation in a patient with Leigh Syndrome." American Journal of Human Genetics 63(6):1598-1608.
Loeffen, J., van den Heuvel, L., Smeets, R., Triepels, R., Sengers, R., Trijbels, F. and Smeitink, J. (1998). "cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed." Biochemical and Biophysical Research Communications 247(3):751-758.
Logan, I. (2005). "The medical implications of complete mitchondrial DNA sequencing." Journal of Genetic Genealogy 1(2):40-53.
Logan, I. (2007). "A suggested genome for “Mitochondrial Eve”." Journal of Genetic Genealogy 3(2):72-77.
Logan, I. S. (2017). "Pseudogenization of the Humanin gene is common in the mitochondrial DNA of many vertebrates." Zoological Research 38(4):198-202.
Lohrer, H. D., Hieber, L. and Zitzelsberger, H. (2002). "Differential mutation frequency in mitochondrial DNA from thyroid tumours." Carcinogenesis 23(10):1577-1582.
Lomax, M. I. and Grossman, L. I. (1989). "Tissue-specific genes for respiratory proteins." Trends in Biochemical Sciences 14:501-503.
Lomax, M. I., Hsieh, C. L., Darras, B. T. and Francke, U. (1991). "Structure of the human cytochrome c oxidase subunit Vb gene and chromosomal mapping of the coding gene and of seven pseudogenes." Genomics 10(1):1-9.
Lomax, M. I., Welch, M. D., Darras, B. T., Francke, U. and Grossman, L. I. (1990). "Novel use of a chimpanzee pseudogene for chromosomal mapping of human cytochrome c oxidase subunit IV." Gene 86(2):209-216.
Lombardo, M. C., van der Zwaan, J. W., Brul, S. and Tager, J. M. (1992). "A procedure for selecting mammalian cells with an impairment in oxidative phosphorylation." Biochimica et Biophysica Acta 1138(4):275-281.
Lombes, A., Aure, K., Bellanne-Chantelot, C., Gilleron, M. and Jardel, C. (2014). "Unsolved issues related to human mitochondrial diseases". Biochimie 100C:171-176.
Longley, M. J., Nguyen, D., Kunkel, T. A. and Copeland, W. C. (2001). "The fidelity of human DNA polymerase gamma with and without exonucleolytic proofreading and the p55 accessory subunit." Journal of Biological Chemistry 276(42):38555-38562.
Longo, N., Schrijver, I., Vogel, H., Pique, L. M., Cowan, T. M., Pasquali, M., Steinberg, G. K., Hedlund, G. L., Ernst, S. L., Gallagher, R. C. and Enns, G. M. (2008). "Progressive cerebral vascular degeneration with mitochondrial encephalopathy." American Journal of Medical Genetics 146(3):361-367.
Loo, J. H., Trejaut, J. A., Yen, J. C., Chen, Z. S., Lee, C. L. and Lin, M. (2011). "Genetic affinities between the Yami tribe people of Orchid Island and the Philippine Islanders of the Batanes archipelago." BMC Genetics 12:21.
Loos, M. A., Gomez, G., Mayorga, L., Caraballo, R. H., Eiroa, H. D., Obregon, M. G., Rugilo, C., Lubieniecki, F., Taratuto, A. L., Saccoliti, M., Alonso, C. N. and Araoz, H. V. (2021). "Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients." Molecular Genetics and Metabolism Reports 27:100733.
Loogvali, E. L., Roostalu, U., Malyarchuk, B. A., Derenko, M. V., Kivisild, T., et al. (2004). "Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia." Molecular Biology and Evolution 21(11):2012-2021.
Lopes, T., Coelho, M., Bordalo, D., Bandeira, A., Bandeira, A., Vilarinho, L., Fonseca, P., Carvalho, S., Martins, C. and Oliveira, J. G. (2018). "Leigh Syndrome: a case report with a mitochondrial DNA mutation." Revista Paulista de Pediatria 36(4):519-523.
Lopez Sanchez, M. I. G., Kearns, L. S., Staffieri, S. E., Clarke, L., McGuinness, M. B., Meteoukki, W., Samuel, S., Ruddle, J. B., Chen, C., Fraser, C. L., Harrison, J., Hewitt, A. W., Howell, N. and Mackey, D. A. (2021). "Establishing risk of vision loss in Leber hereditary optic neuropathy." American Journal of Human Genetics 108(11):2159-2170.
Lopez-Gallardo, E., Cammarata-Scalisi, F., Emperador, S., Hernandez-Ainsa, C., Habbane, M., Vela-Sebastian, A., Bayona-Bafaluy, M. P., Montoya, J. and Ruiz-Pesini, E. (2020). "Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis." Clinical Genetics 97(5):731-735.
Lopez-Gallardo, E., Emperador, S., Hernandez-Ainsa, C., Montoya, J., Bayona-Bafaluy, M. P. and Ruiz-Pesini, E. (2018). "Food derived respiratory complex I inhibitors modify the effect of Leber hereditary optic neuropathy mutations." Food and Chemical Toxicology 120:89-97.
Lopez-Gallardo, E., Emperador, S., Solano, A., Llobet, L., Martin-Navarro, A., Lopez-Perez, M. J., Briones, P., Pineda, M., Artuch, R., Barraquer, E., Jerico, I., Ruiz-Pesini, E. and Montoya, J. (2014). "Expanding the clinical phenotypes of MT-ATP6 mutations." Human Molecular Genetics 23(23):6191-6200.
Lopez-Gallardo, E., Llobet, L., Emperador, S., Montoya, J. and Ruiz-Pesini, E. (2016). "Effects of tributyltin chloride on cybrids with or without an ATP synthase pathologic mutation." Environmental Health Perspectives 124(9):1399-1405.
Lopez-Gallardo, E., Solano, A., Herrero-Martin, M. D., Martinez-Romero, I., Castano-Perez, M. D., Andreu, A. L., Herrera, A., Lopez-Perez, M. J., Ruiz-Pesini, E. and Montoya, J. (2009). "NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein." Journal of Medical Genetics 46(1):64-67.
Lopez Sanchez, M. I. G., Kearns, L. S., Staffieri, S. E., Clarke, L., McGuinness, M. B., Meteoukki, W., Samuel, S., Ruddle, J. B., Chen, C., Fraser, C. L., Harrison, J., Hewitt, A. W., Howell, N. and Mackey, D. A. (2021). "Establishing risk of vision loss in Leber hereditary optic neuropathy." American Journal of Human Genetics 108(11):2159-2170.
Lorenc, A., Bryk, J., Golik, P., Kupryjanczyk, J., Ostrowski, J., Pronicki, M., Semczuk, A., Szolkowska, M. and Bartnik, E. (2003). "Homoplasmic MELAS A3243G mtDNA mutation in a colon cancer sample." Mitochondrion 3(2):119-124.
Lorente, L., Iceta, R., Martin, M. M., Lopez-Gallardo, E., Sole-Violan, J., Blanquer, J., Labarta, L., Diaz, C., Borreguero-Leon, J. M., Jimenez, A., Montoya, J. and Ruiz-Pesini, E. (2013). "Severe septic patients with mitochondrial DNA haplogroup JT show higher survival rates: a prospective, multicenter, observational study." PLoS ONE 8(9):e73320.
Lorenz, B. (2002). "Genetics of isolated and syndromic strabismus: facts and perspectives." Strabismus 10(2):147-156.
Lorenz, J. G. and Smith, D. G. (1994). "Distribution of the 9-bp mitochondrial DNA region V deletion among North American Indians." Human Biology 66(5):777-788.
Lorenz, R., Ahting, U., Betzler, C., Heimering, S., Borggrafe, I. and Lange-Sperandio, B. (2020). "Homoplasmy of the mitochondrial DNA mutation m.616T>C leads to mitochondrial tubulointerstitial kidney disease and encephalopathia." Nephron 144(3):156-160.
Loschen, G., Azzi, A., Richter, C. and Flohe, L. (1974). "Superoxide radicals as precursors of mitochondrial hydrogen peroxide." FEBS Letters 42(1):68-72.
Lott, M. T., Leipzig, J. N., Derbeneva, O., Xie, H. M., Chalkia, D., Sarmady, M., Procaccio, V. and Wallace, D. C. (2013). "mtDNA variation and analysis using MITOMAP and MITOMASTER." Current Protocols in Bioinformatics 1(123):1.23.21-21.23.26.
Lott, M. T., Voljavec, A. S. and Wallace, D. C. (1990). "Variable genotype of Leber's hereditary optic neuropathy patients." American Journal of Ophthalmology 109(6):625-631.
Love, S., Nicoll, J. A. and Kinrade, E. (1993). "Sequencing and quantitative assessment of mutant and wild-type mitochondrial DNA in paraffin sections from cases of MELAS." Journal of Pathology 170(1):9-14.
Loveland, B., Wang, C. R., Yonekawa, H., Hermel, E. and Fischer-Lindahl, D. (1990). "Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein." Cell 60(6):971-980.
Low, R. L. (2003). "Mitochondrial Endonuclease G function in apoptosis and mtDNA metabolism: a historical perspective." Mitochondrion 2(4):225-236.
Lowenstein, C. J., Hill, S. L., Lafond-Walker, A., Wu, J., Allen, G., Landavere, M., Rose, N. R. and Herskowitz, A. (1996). "Nitric oxide inhibits viral replication in murine myocarditis." Journal of Clinical Investigation 97(8):1837-1843.
Lowik, M. M., Hol, F. A., Steenbergen, E. J., Wetzels, J. F. and van den Heuvel, L. P. (2005). "Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis." Nephrology, Dialysis, Transplantation 20(2):336-341.
Lowis, G. W., Sheremata, W. A., Wickman, P. R., Dube, S., Dube, K. and Poiesz, B. J. (1999). "HTLV-II risk factors in Native Americans in Florida." Neuroepidemiology 18(1):37-47.
Lu, C. Y., Lee, H. C., Fahn, H. J. and Wei, Y. H. (1999). "Oxidative damage elicited by imbalance of free radical scavenging enzymes is associated with large-scale mtDNA deletions in aging human skin." Mutation Research 423(1-2):11-21.
Lu, H. E., Yang, Y. P., Chen, Y. T., Wu, Y. R., Wang, C. L., Tsai, F. T., Hwang, D. K., Lin, T. C., Chen, S. J., Wang, A. G., Hsieh, P. C. H. and Chiou, S. H. (2018). "Generation of patient-specific induced pluripotent stem cells from Leber's hereditary optic neuropathy." Stem Cell Research 28:56-60.
Lu, J., He, B. and Wang, D. (2011). "Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes". Neurosciences (Riyadh) 16(2):162-163.
Lu, J., Li, Z., Zhu, Y., Yang, A., Li, R., et al. (2010). "Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss." Mitochondrion 10(4):380-390.
Lu, J., Qian, Y., Li, Z., Yang, A., Zhu, Y., et al. (2010). "Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation." Mitochondrion 10(1):69-81.
Lu, J., Wang, D., Li, R., Li, W., Ji, J., Zhao, J., Ye, W., Yang, L., Qian, Y., Zhu, Y. and Guan, M. X. (2006). "Maternally transmitted diabetes mellitus associated with the mitochondrial tRNA(Leu(UUR)) A3243G mutation in a four-generation Han Chinese family." Biochemical and Biophysical Research Communications 348(1):115-119.
Lu, M. Y., Huang, J. F., Liao, Y. C., Bai, R. K., Trieu, R. B., Chuang, W. L., Yu, M. L., Juo, S. H. and Wong, L. J. (2012). "Mitochondrial polymorphism 12361A>G is associated with nonalcoholic fatty liver disease". Translational Research 159(1):58-59.
Lu, Q., Guo, Y., Yi, J., Deng, X., Yang, Z., Yuan, X. and Deng, H. (2017). "Identification of an ND4 Mutation in Leber hereditary optic neuropathy." Optometry and Vision Science 94(12):1090-1094.
Lu, Y., Deng, J., Zhao, Y., Zhang, Z., Hong, D., Yao, S., Zhao, D., Xie, J., Fang, H., Yuan, Y. and Wang, Z. (2020). "Patients with MELAS with negative myopathology for characteristic ragged-red fibers." Journal of the Neurological Sciences 408:116499.
Lu, Z., Chen, H., Meng, Y., Wang, Y., Xue, L., Zhi, S., Qiu, Q., Yang, L., Mo, J. Q. and Guan, M. X. (2011). "The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree". European Journal of Human Genetics 19(11):1181-1186.
Luberichs, J., Leo-Kottler, B., Besch, D. and Fauser, S. (2002). "A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy." Graefes Archive for Clincial and Experimental Ophthalmology 240(2):96-100.
Luca, C. C., Lam, B. L. and Moraes, C. T. (2004). "Erythromycin as a potential precipitating agent in the onset of Leber's hereditary optic neuropathy." Mitochondrion 4(1):31-36.
Luciakova, K., Sokolikova, B., Chloupkova, M. and Nelson, B. D. (1999). "Enhanced mitochondrial biogenesis is associated with increased expression of the mitochondrial ATP-dependent Lon protease." FEBS Letters 444(2-3):186-188.
Lucioli, S., Hoffmeier, K., Carrozzo, R., Tessa, A., Ludwig, B. and Santorelli, F. M. (2006). "Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient." Neurogenetics 7(1):51-57.
Lucking, C. B., Kosel, S., Mehraein, P. and Graeber, M. B. (1995). "Absence of the mitochondrial A7237T mutation in Parkinson's disease." Biochemical and Biophysical Research Communications 211(2):700-704.
Lucotte, G. (2010). "A rare variant of the mtDNA HVS1 sequence in the hairs of Napoleon's family." Investigative Genetics 1(1):7.
Lucotte, G. and Loirat, F. (1999). "Y-chromosome DNA haplotype 15 in Europe." Human Biology 71(3):431-437.
Lucotte, G., Guerin, P., Halle, L., Loirat, F. and Hazout, S. (1989). "Y chromosome DNA polymorphisms in two African populations." American Journal of Human Genetics 45(1):16-20.
Luder, A. and Barash, V. (1994). "Complex I deficiency with diabetes, Fanconi syndrome and mtDNA deletion." Journal of Inherited Metabolic Disease 17(3):298-300.
Luft, R. (1994). "The development of mitochondrial medicine." Proceedings of the National Academy of Sciences of the United States of America 91(19):8731-8738.
Luft, R., Ikkos, D., Palmieri, G., Ernster, L. and Afzelius, B. A. (1962). "A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study." The Journal of Clinical Investigation 41:1776-1804.
Luke, C., Cornely, O. A., Fricke, J., Lehrer, E. and Bartz-Schmidt, K. U. (1999). "Late onset of Leber's hereditary optic neuropathy in HIV infection." British Journal of Ophthalmology 83(10):1204-1205.
Lum, J. K. and Cann, R. L. (1998). "mtDNA and language support a common origin of Micronesians and Polynesians in Island Southeast Asia." American Journal of Physical Anthropology 105(2):109-119.
Lum, J. K., Rickards, O., Ching, C. and Cann, R. L. (1994). "Polynesian mitochondrial DNAs reveal three deep maternal lineage clusters." Human Biology 66(4):567-590.
Lunardi, J., Darrouzet, E., Dupuis, A. and Issartel, J. P. (1998). "The nuoM arg368his mutation in NADH:ubiquinone oxidoreductase from Rhodobacter capsulatus: a model for the human nd4-11778 mtDNA mutation associated with Leber's hereditary optic neuropathy." Biochimica et Biophysica Acta 1407(2):114-124.
Lundin, K., Wilichowski, E., Ernst, B. P. and Hanefeld, F. (1997). "S1 nuclease hybrid analysis of mitochondrial DNA amplified by long-distance PCR: rapid screening for small-scale rearrangements." Nucleic Acids Research 25(12):2535-2536.
Lundquist, A. A., Farholt, S., Borresen, M. L., Duno, M., Wibrand, F., Witting, N. and Ostergaard, E. (2021). "A novel homoplasmic mt-tRNA(Glu) m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency." European Journal of Medical Genetics 64(10):104306.
Luo, S., Valencia, C. A., Zhang, J., Lee, N. C., Slone, J., Gui, B., Wang, X., Li, Z., Dell, S., Brown, J., Chen, S. M., Chien, Y. H., Hwu, W. L., Fan, P. C., Wong, L. J., Atwal, P. S. and Huang, T. (2018). "Biparental inheritance of mitochondrial DNA in humans." Proceedings of the National Academy of Sciences of the United States of America 115(51):13039-13044.
Luo, S., Valencia, C. A., Zhang, J., Lee, N. C., Slone, J., Gui, B., Wang, X., Li, Z., Dell, S., Brown, J., Chen, S. M., Chien, Y. H., Hwu, W. L., Fan, P. C., Wong, L. J., Atwal, P. S. and Huang, T. (2019). "Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments." Proceedings of the National Academy of Sciences of the United States of America 116(6):1823-1824.
Luo, Y. J., Gao, W. X., Li, S. Z., Huang, X. W., Chen, Y., Liu, F. Y., Huang, Q. Y. and Gao, Y. Q. (2012). "Mitochondrial haplogroup D4 confers resistance and haplogroup B is a genetic risk factor for high-altitude pulmonary edema among Han Chinese." Genetics and Molecular Research 11(4):3658-3667.
Luo, Y., Gao, W., Liu, F. and Gao, Y. (2011). "Mitochondrial nt3010G-nt3970C haplotype is implicated in high-altitude adaptation of Tibetans." Mitochondrial DNA 22(5-6):181-190.
Luo, Y., Yang, X. and Gao, Y. (2013). "Mitochondrial DNA response to high altitude: a new perspective on high-altitude adaptation." Mitochondrial DNA: The Journal of DNA Mapping, Sequencing & Analysis 24(4):313-319.
Luoma, P., Melberg, A., Rinne, J. O., Kaukonen, J. A., Nupponen, N. N., Chalmers, R. M., Oldfors, A., Rautakorpi, I., Peltonen, L., Majamaa, K., Somer, H. and Suomalainen, A. (2004). "Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study." Lancet 364(9437):875-882.
Lutsenko, S. and Cooper, M. J. (1998). "Localization of the Wilson's disease protein product to mitochondria." Proceedings of the National Academy of Sciences of the United States of America 95(11):6004-6009.
Lutter, R., Saraste, M., van Walraven, H. S., Runswick, M. J., Finel, M., Deatherage, J. F. and Walker, J. E. (1993). "F1F0-ATP synthase from bovine heart mitochondria: development of the purification of a monodisperse oligomycin-sensitive ATPase." Biochemical Journal 295(Pt 3):799-806.
Lutz-Bonengel, S. and Parson, W. (2019). "No further evidence for paternal leakage of mitochondrial DNA in humans yet." Proceedings of the National Academy of Sciences of the United States of America 116(6):1821-1822.
Lutz-Bonengel, S., Niederstatter, H., Naue, J., Koziel, R., Yang, F., et al. (2021). "Evidence for multi-copy Mega-NUMTs in the human genome." Nucleic Acids Research 49(3):1517-1531.
Lutz, S., Weisser, H. J., Heizmann, J. and Pollak, S. (1997). "A third hypervariable region in the human mitochondrial D-loop." Human Genetics 101(3):384.
Lutz, S., Wittig, H., Weisser, H. J., Heizmann, J., Junge, A., Dimo-Simonin, N., Parson, W., Edelmann, J., Anslinger, K., Jung, S. and Augustin, C. (2000). "Is it possible to differentiate mtDNA by means of HVIII in samples that cannot be distinguished by sequencing the HVI and HVII regions?" Forensic Science International 113(1-3):97-101.
Luzhansky, J. Z., Pierce, A. B., Hoy, J. F. and Hall, A. J. (2001). "Leber's hereditary optic neuropathy in the setting of nucleoside analogue toxicity." Aids 15(12):1588-1589.
Lynch, M. (1996). "Mutation accumulation in transfer RNAs: molecular evidence for Muller's ratchet in mitochondrial genomes." Molecular Biology and Evolution 13(1):209-220.
Lynn, S., Borthwick, G. M., Charnley, R. M., Walker, M. and Turnbull, D. M. (2003). "Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells." Diabetologia 46(2):296-299.
Lynn, S., Wardell, T., Johnson, M. A., Chinnery, P. F., Daly, M. E., Walker, M. and Turnbull, D. M. (1998). "Mitochondrial diabetes: investigation and identification of a novel mutation." Diabetes 47(11):1800-1802.
Lyseng-Williamson, K. A. (2016). "Idebenone: a review in Leber's hereditary optic neuropathy." Drugs 76(7):805-813.
Lyu, L., Wang, Q., Song, S., Zhou, H., Li, M., Zhou, C., Jiang, Z., Li, L., Lyu, J., Chen, G. and Bai, Y. (2018). "Dataset of mitochondrial genome variants in oncocytic tumors." Data Brief 17:1149-1152.
Copyright © by the contributing authors. All material on this collaboration platform is the property of the contributing authors. Ideas, requests, problems regarding Foswiki? Send feedback