Bibliography: Large Deletions in the Human mtDNA

Abnet, C. C., Huppi, K., Carrera, A., Armistead, D., McKenney, K., Hu, N., Tang, Z. Z., Taylor, P. R. and Dawsey, S. M. (2004). "Control region mutations and the 'common deletion' are frequent in the mitochondrial DNA of patients with esophageal squamous cell carcinoma." BMC Cancer 4:30.

Ait-Aissa, K., Blaszak, S. C., Beutner, G., Tsaih, S. W., Morgan, G., Santos, J. H., Flister, M. J., Joyce, D. L., Camara, A. K. S., Gutterman, D. D., Donato, A. J., Porter, G. A., Jr. and Beyer, A. M. (2019). "Mitochondrial Oxidative Phosphorylation defect in the Heart of Subjects with Coronary Artery Disease." Sci Rep 9(1):7623.

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." Biochim Biophys Acta 1219(1):129-140.

Alonso-Montes, C., Castro, M. G., Reguero, J. R., Perrot, A., Ozcelik, C., Geier, C., Posch, M. G., Moris, C., Alvarez, V., Ruiz-Ortega, M. and Coto, E. (2008). "Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy." Dis Markers 25(3):131-139.

Ambulkar, P. S., Chuadhari, A. R. and Pal, A. K. (2016). "Association of large scale 4977-bp "common" deletions in sperm mitochondrial DNA with asthenozoospermia and oligoasthenoteratozoospermia." J Hum Reprod Sci 9(1):35-40.

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.

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." N Engl J Med 341(14):1037-1044.

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 Clin Exp Res 15(1):1-5.

Aral, C., Akkiprik, M., Kaya, H., Ataizi-Celikel, C., Caglayan, S., Ozisik, G., Baloglu, H. and Ozer, A. (2010). "Mitochondrial DNA common deletion is not associated with thyroid, breast and colorectal tumors in Turkish patients." Genet Mol Biol 33(1):1-4.

Arck, P. C., Overall, R., Spatz, K., Liezman, C., Handjiski, B., Klapp, B. F., Birch-Machin, M. A. and Peters, E. M. (2006). "Towards a "free radical theory of graying": melanocyte apoptosis in the aging human hair follicle is an indicator of oxidative stress induced tissue damage." FASEB J 20(9):1567-1569.

Arenas-Pinto, A., Weller, I., Ekong, R., Grant, A., Karstaedt, A., Reiss, P., Telisinghe, L., Weber, R., Bolhaar, M., Bradman, N. and Ingram, C. (2012). "Common inherited mitochondrial DNA mutations and nucleoside reverse transcriptase inhibitor-induced severe hyperlactataemia in HIV-infected adults: an exploratory study." Antivir Ther 17(2):275-282.

Arenas, J., Campos, Y. and Martin, M. A. (1995). "[Molecular genetics of mitochondrial cytopathologies]." Neurologia 10 Suppl 1:44-49.

Ascaso, F. J., Lopez-Gallardo, E., Del Prado, E., Ruiz-Pesini, E. and Montoya, J. (2010). "Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions." Clin Exp Ophthalmol 38(8):812-816.

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." Lancet 341(8855):1291-1292.

Ayed, I. B., Chamkha, I., Mkaouar-Rebai, E., Kammoun, T., Mezghani, N., Chabchoub, I., Aloulou, H., Hachicha, M. and Fakhfakh, F. (2011). "A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions." Biochemical and Biophysical Research Communications 411(2):381-386.

Azakli, H., Gurses, C., Arikan, M., Aydoseli, A., Aras, Y., Sencer, A., Gokyigit, A., Bilgic, B. and Ustek, D. (2013). "Whole mitochondrial DNA variations in hippocampal surgical specimens and blood samples with high-throughput sequencing: a case of mesial temporal lobe epilepsy with hippocampal sclerosis." Gene 529(1):190-194.

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." Neuromuscul Disord 28(4):350-360.

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." The American Journal of Otology 18(4):449-453.

Ballinger, S. W., Bouder, T. G., Davis, G. S., Judice, S. A., Nicklas, J. A. and Albertini, R. J. (1996). "Mitochondrial genome damage associated with cigarette smoking." Cancer Res 56(24):5692-5697.

Ballinger, S. W., Shoffner, J. M., Gebhart, S., Koontz, D. A. and Wallace, D. C. (1994). "Mitochondrial diabetes revisited." 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(1):11-15.

Baranowska, I., Jaderlund, K. H., Nennesmo, I., Holmqvist, E., Heidrich, N., Larsson, N. G., Andersson, G., Wagner, E. G., Hedhammar, A., Wibom, R. and Andersson, L. (2009). "Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene." PLoS Genet 5(5):e1000499.

Barreau, E., Brossas, J. Y., Courtois, Y. and Treton, J. A. (1996). "Accumulation of mitochondrial DNA deletions in human retina during aging." Investigative Ophthalmology and Visual Science 37(2):384-391.

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.

Baykara, O., Sahin, S. K., Akbas, F., Guven, M. and Onaran, I. (2016). "The effects of mitochondrial DNA deletion and copy number variations on different exercise intensities in highly trained swimmers." Cell Mol Biol (Noisy-le-grand) 62(12):109-115.

Belmonte, F. R., Martin, J. L., Frescura, K., Damas, J., Pereira, F., Tarnopolsky, M. A. and Kaufman, B. A. (2016). "Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions." Sci Rep 6:25186.

Bender, A., Krishnan, K. J., Morris, C. M., Taylor, G. A., Reeve, A. K., Perry, R. H., Jaros, E., Hersheson, J. S., Betts, J., Klopstock, T., Taylor, R. W. and Turnbull, D. M. (2006). "High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease." Nature Genetics 38(5):515-517.

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.

Bergamin, G., Boaretto, F., Briani, C., Pegoraro, E., Cacciavillani, M., Martinuzzi, A., Muglia, M., Vettori, A., Vazza, G. and Mostacciuolo, M. L. (2014). "Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease." Neuromolecular Med 16(3):540-550.

Berio, A., Piazzi, A. and Traverso, C. E. (2017). "Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy?" Pediatr Med Chir 39(4):169.

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 and Photobiology 66(2):271-275.

Berneburg, M., Gremmel, T., Kurten, V., Schroeder, P., Hertel, I., von Mikecz, A., Wild, S., Chen, M., Declercq, L., Matsui, M., Ruzicka, T. and Krutmann, J. (2005). "Creatine supplementation normalizes mutagenesis of mitochondrial DNA as well as functional consequences." J Invest Dermatol 125(2):213-220.

Berneburg, M., Grether-Beck, S., Kurten, V., Ruzicka, T., Briviba, K., Sies, H. and Krutmann, J. (1999). "Singlet oxygen mediates the UVA-induced generation of the photoaging-associated mitochondrial common deletion." J Biol Chem 274(22):15345-15349.

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.

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.

Bianchi, M., Rizza, T., Verrigni, D., Martinelli, D., Tozzi, G., Torraco, A., Piemonte, F., Dionisi-Vici, C., Nobili, V., Francalanci, P., Boldrini, R., Callea, F., Santorelli, F. M., Bertini, E. and Carrozzo, R. (2011). "Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy." Biochemical and Biophysical Research Communications 415(2):300-304.

Birket, M. J. and Birch-Machin, M. A. (2007). "Ultraviolet radiation exposure accelerates the accumulation of the aging-dependent T414G mitochondrial DNA mutation in human skin." Aging Cell 6(4):557-564.

Biskup, S. and Moore, D. J. (2006). "Detrimental deletions: mitochondria, aging and Parkinson's disease." Bioessays 28(10):963-967.

Blackwood, J. K., Whittaker, R. G., Blakely, E. L., Alston, C. L., Turnbull, D. M. and Taylor, R. W. (2010). "The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells." Biochemical and Biophysical Research Communications 393(4):740-745.

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.

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.

Bodo, E., Tobin, D. J., Kamenisch, Y., Biro, T., Berneburg, M., Funk, W. and Paus, R. (2007). "Dissecting the impact of chemotherapy on the human hair follicle: a pragmatic in vitro assay for studying the pathogenesis and potential management of hair follicle dystrophy." Am J Pathol 171(4):1153-1167.

Bogliolo, M., Izzotti, A., De Flora, S., Carli, C., Abbondandolo, A. and Degan, P. (1999). "Detection of the '4977 bp' mitochondrial DNA deletion in human atherosclerotic lesions." Mutagenesis 14(1):77-82.

Bohm, M. and Hill, H. Z. (2016). "Ultraviolet B, melanin and mitochondrial DNA: Photo-damage in human epidermal keratinocytes and melanocytes modulated by alpha-melanocyte-stimulating hormone." F1000Res 5:881.

Bojarska-Junak, A., Semczuk, A., Grywalska, E., Rolinski, J. and Putowski, L. (2013). "mtDNA(4977) deletion is not a common feature in patients with premature ovarian failure and primary infertility." Clin Exp Obstet Gynecol 40(4):510-513.

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., 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.

Bosworth, C. M., Grandhi, S., Gould, M. P. and LaFramboise, T. (2017). "Detection and quantification of mitochondrial DNA deletions from next-generation sequence data." BMC Bioinformatics 18(Suppl 12):407.

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." Mutat Res 570(1):81-88.

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." The Journal of Biological Chemistry 268(26):19369-19376.

Brass, E. P., Wang, H. and Hiatt, W. R. (2000). "Multiple skeletal muscle mitochondrial DNA deletions in patients with unilateral peripheral arterial disease." Vasc Med 5(4):225-230.

Breen, M. S. and Kondrashov, F. A. (2010). "Mitochondrial pathogenic mutations are population-specific." Biol Direct 5:68.

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.

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.

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." J Inherit Metab Dis 21(2):155-161.

Byrne, E. (1992). "New concepts in respiratory chain diseases." Curr Opin Rheumatol 4(6):784-793.

Caballero, P. E., Candela, M. S., Alvarez, C. I. and Tejerina, A. A. (2007). "Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature." Neurologist 13(1):33-36.

Cameron, J. M., Levandovskiy, V., MacKay, N., Utgikar, R., Ackerley, C., Chiasson, D., Halliday, W., Raiman, J. and Robinson, B. H. (2009). "Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts." Mol Genet Metab 98(4):378-382.

Cammarata-Scalisi, F., Lopez-Gallardo, E., Emperador, S., Ruiz-Pesini, E., Da Silva, G., Camacho, N. and Montoya, J. (2011). "[Pearson syndrome. Case report]." Invest Clin 52(3):261-267.

Campos, Y., Martin, M. A., Caballero, C., Rubio, J. C., de la Cruz, F., Tunon, T. and Arenas, J. (2000). "Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction." Neuromuscul Disord 10(1):56-58.

Carelli, V. and La Morgia, C. (2018). "Clinical syndromes associated with mtDNA mutations: where we stand after 30 years." Essays Biochem 62(3):235-254.

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.

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.

Chang, M. C., Hung, S. C., Chen, W. Y., Chen, T. L., Lee, C. F., Lee, H. C., Wang, K. L., Chiou, C. C. and Wei, Y. H. (2005). "Accumulation of mitochondrial DNA with 4977-bp deletion in knee cartilage--an association with idiopathic osteoarthritis." Osteoarthritis Cartilage 13(11):1004-1011.

Chen, D. and Zhan, H. (2009). "Study on the mutations in the D-loop region of mitochondrial DNA in cervical carcinoma." J Cancer Res Clin Oncol 135(2):291-295.

Chen, L. Y., Wang, Y., Terkeltaub, R. and Liu-Bryan, R. (2018). "Activation of AMPK-SIRT3 signaling is chondroprotective by preserving mitochondrial DNA integrity and function." Osteoarthritis Cartilage 26(11):1539-1550.

Chen, Q., Li, X., Wu, L., Qi, Y. and Wu, X. (1998). "Mitochondrial gene defect in patients with chronic progressive external ophthalmoplegia." Chin Med J (Engl) 111(6):500-503.

Chen, T., He, J., Huang, Y. and Zhao, W. (2011). "The generation of mitochondrial DNA large-scale deletions in human cells." J Hum Genet 56(10):689-694.

Chen, T., He, J., Shen, L., Fang, H., Nie, H., Jin, T., Wei, X., Xin, Y., Jiang, Y., Li, H., Chen, G., Lu, J. and Bai, Y. (2011). "The mitochondrial DNA 4,977-bp deletion and its implication in copy number alteration in colorectal cancer." BMC Med Genet 12:8.

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.

Cheng, Y., Ren, X., Gowda, A. S., Shan, Y., Zhang, L., Yuan, Y. S., Patel, R., Wu, H., Huber-Keener, K., Yang, J. W., Liu, D., Spratt, T. E. and Yang, J. M. (2013). "Interaction of Sirt3 with OGG1 contributes to repair of mitochondrial DNA and protects from apoptotic cell death under oxidative stress." Cell Death Dis 4:e731.

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.

Conti, L., Vatrano, S., Bertero, L., Masu, L., Pacchioni, D., Daniele, L., De Rosa, G., Cassoni, P., Volante, M. and Papotti, M. (2017). "Mitochondrial DNA "common deletion" in post-fine needle aspiration infarcted oncocytic thyroid tumors." Hum Pathol 69:23-30.

Cooper, J. M., Mann, V. M. and Schapira, A. H. (1992). "Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing." J Neurol Sci 113(1):91-98.

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., 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.

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. Implications for cardiac disease." JAMA 266(13):1812-1816.

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.

Crimi, M., Bordoni, A., Menozzi, G., Riva, L., Fortunato, F., Galbiati, S., Del Bo, R., Pozzoli, U., Bresolin, N. and Comi, G. P. (2005). "Skeletal muscle gene expression profiling in mitochondrial disorders." FASEB J 19(7):866-868.

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." Eur J Hum Genet 11(11):896-898.

Cruz, S., Taipa, R., Nogueira, C., Pereira, C., Almeida, L. S., Neiva, R., Geraldes, T., Guimaraes, A., Melo-Pires, M. and Vilarinho, L. (2017). "Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders." Muscle Nerve 56(5):868-872.

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." Int J Androl 21(1):47-52.

Czarny, P., Seda, A., Wielgorski, M., Binczyk, E., Markiewicz, B., Kasprzak, E., Jimenez-Garcia, M. P., Grabska-Liberek, I., Pawlowska, E., Blasiak, J., Szaflik, J. and Szaflik, J. P. (2014). "Mutagenesis of mitochondrial DNA in Fuchs endothelial corneal dystrophy." Mutat Res 760:42-47.

Dai, J. G., Xiao, Y. B., Min, J. X., Zhang, G. Q., Yao, K. and Zhou, R. J. (2006). "Mitochondrial DNA 4977 BP deletion mutations in lung carcinoma." Indian J Cancer 43(1):20-25.

Dai, P., Jiang, S. and Gu, R. (2000). "[Cochlear hypoxia and mtDNA deletion: possible correlated factors to cause presbycusis]." Zhonghua Yi Xue Za Zhi 80(12):897-900.

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 Otolaryngol 124(2):130-136.

Damas, J., Samuels, D. C., Carneiro, J., Amorim, A. and Pereira, F. (2014). "Mitochondrial DNA rearrangements in health and disease--a comprehensive study." Hum Mutat 35(1):1-14.

Dani, S. U., Dani, M. A. and Simpson, A. J. (2003). "The common mitochondrial DNA deletion deltamtDNA(4977): shedding new light to the concept of a tumor suppressor mutation." Med Hypotheses 61(1):60-63.

Datta, S., Chattopadhyay, E., Ray, J. G., Majumder, M., Roy, P. D. and Roy, B. (2015). "D-loop somatic mutations and approximately 5 kb "common" deletion in mitochondrial DNA: important molecular markers to distinguish oral precancer and cancer." Tumour Biol 36(4):3025-3033.

De Flora, S., Scarfi, S., Izzotti, A., D'Agostini, F., Chang, C. C., Bagnasco, M., De Flora, A. and Trosko, J. E. (2006). "Induction by 7,12-dimethylbenz(a)anthracene of molecular and biochemical alterations in transformed human mammary epithelial stem cells, and protection by N-acetylcysteine." Int J Oncol 29(3):521-529.

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.

Debacq-Chainiaux, F., Borlon, C., De Hertogh, B., Remacle, J., Morvan, P. Y., Vallee, R. and Toussaint, O. (2006). "Identification of potential anti-photoageing algal compounds using an in-vitro model of photoageing." J Pharm Pharmacol 58(12):1577-1583.

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.

Del Bo, R., Bordoni, A., Martinelli Boneschi, F., 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." J Neurol Sci 202(1-2):85-91.

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." Genet Test 8(4):395-399.

Dhaliwal, G. K. and Grewal, R. P. (2000). "Mitochondrial DNA deletion mutation levels are elevated in ALS brains." Neuroreport 11(11):2507-2509.

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.

DiMauro, S., Bonilla, E., Davidson, M., Hirano, M. and Schon, E. A. (1998). "Mitochondria in neuromuscular disorders." Biochim Biophys Acta 1366(1-2):199-210.

Dimberg, J., Hong, T. T., Nguyen, L. T. T., Skarstedt, M., Lofgren, S. and Matussek, A. (2015). "Common 4977 bp deletion and novel alterations in mitochondrial DNA in Vietnamese patients with breast cancer." Springerplus 4:58.

Dimberg, J., Hong, T. T., Skarstedt, M., Lofgren, S., Zar, N. and Matussek, A. (2014). "Novel and differential accumulation of mitochondrial DNA deletions in Swedish and vietnamese patients with colorectal cancer." Anticancer Res 34(1):147-152.

Dong, D. W., Pereira, F., Barrett, S. P., Kolesar, J. E., Cao, K., Damas, J., Yatsunyk, L. A., Johnson, F. B. and Kaufman, B. A. (2014). "Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints." BMC Genomics 15:677.

Dowton, S. B. and Slaugh, R. A. (1995). "Diagnosis of human heritable diseases--laboratory approaches and outcomes." Clin Chem 41(5):785-794; discussion 813-786.

Drouet, M., Lauthier, F., Charmes, J. P., Sauvage, P. and Ratinaud, M. H. (1999). "Age-associated changes in mitochondrial parameters on peripheral human lymphocytes." Exp Gerontol 34(7):843-852.

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 J Otorhinolaryngol Relat Spec 81(2-3):92-100.

Dumont, P., Burton, M., Chen, Q. M., Gonos, E. S., Frippiat, C., Mazarati, J. B., Eliaers, F., Remacle, J. and Toussaint, O. (2000). "Induction of replicative senescence biomarkers by sublethal oxidative stresses in normal human fibroblast." Free Radic Biol Med 28(3):361-373.

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." Hum Mol Genet 2(10):1619-1624.

Duregon, E., Volante, M., Cappia, S., Cuccurullo, A., Bisceglia, M., Wong, D. D., Spagnolo, D. V., Szpak-Ulczok, S., Bollito, E., Daffara, F., Berruti, A., Terzolo, M. and Papotti, M. (2011). "Oncocytic adrenocortical tumors: diagnostic algorithm and mitochondrial DNA profile in 27 cases." Am J Surg Pathol 35(12):1882-1893.

Durham, S. E., Krishnan, K. J., Betts, J. and Birch-Machin, M. A. (2003). "Mitochondrial DNA damage in non-melanoma skin cancer." Br J Cancer 88(1):90-95.

Duvvuri, B., Duvvuri, V. R., Wang, C., Chen, L., Wagar, L. E., Jamnik, V., Wu, J., Yeung, R. S., Grigull, J., Watts, T. H. and Wu, G. E. (2014). "The human immune system recognizes neopeptides derived from mitochondrial DNA deletions." J Immunol 192(10):4581-4591.

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.

El-Hattab, A. W., Li, F. Y., Schmitt, E., Zhang, S., Craigen, W. J. and Wong, L. J. (2010). "MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations." Mol Genet Metab 99(3):300-308.

Elango, S., Govindaraj, P., Vishwanadha, V. P., Reddy, A. G., Tamang, R., Muthusami, U., Kunnoth, S., Koyilil, V. K., Lakshman, M., Shanmugasundharam, N., Singh, L. and Thangaraj, K. (2011). "Analysis of mitochondrial genome revealed a rare 50 bp deletion and substitutions in a family with hypertension." Mitochondrion 11(6):878-885.

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." Mol Genet Metab 105(1):91-102.

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.

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.

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.

Fellman, V. and Kotarsky, H. (2011). "Mitochondrial hepatopathies in the newborn period." Semin Fetal Neonatal Med 16(4):222-228.

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." Mol Cell Biochem 174(1-2):221-225.

Fesahat, F., Sheikhha, M. H., Rasti, A., Nodoshan, F. S., Zare-Zardini, H. and Navabazam, A. R. (2014). "An Investigation on Mitochondrial DNA Deletions and Telomere Shortening during Multiple Passages of Adult Stem Cells." Avicenna J Med Biotechnol 6(3):156-162.

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.

Forli, F., Mancuso, M., Santoro, A., Dotti, M. T., Siciliano, G. and Berrettini, S. (2006). "Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions." J Laryngol Otol 120(10):888-891.

Frippiat, C., Dierick, J. F., Remacle, J. and Toussaint, O. (2000). "Consideration of heteroduplexes and homoduplexes for the quantification by competitive PCR of human mitochondrial DNA deletions with ageing of tissues and cells." Biogerontology 1(3):279-283.

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.

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.

Fukagawa, N. K., Li, M., Liang, P., Russell, J. C., Sobel, B. E. and Absher, P. M. (1999). "Aging and high concentrations of glucose potentiate injury to mitochondrial DNA." Free Radic Biol Med 27(11-12):1437-1443.

Fuke, S., Kametani, M. and Kato, T. (2008). "Quantitative analysis of the 4977-bp common deletion of mitochondrial DNA in postmortem frontal cortex from patients with bipolar disorder and schizophrenia." Neurosci Lett 439(2):173-177.

Fukushima, K. and Fiocchi, C. (2004). "Paradoxical decrease of mitochondrial DNA deletions in epithelial cells of active ulcerative colitis patients." Am J Physiol Gastrointest Liver Physiol 286(5):G804-813.

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.

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 37(8):680-684.

Futyma, K., Putowski, L., Cybulski, M., Miotla, P., Rechberger, T. and Semczuk, A. (2008). "The prevalence of mtDNA4977 deletion in primary human endometrial carcinomas and matched control samples." Oncol Rep 20(3):683-688.

Gadaleta, M. N., Cormio, A., Pesce, V., Lezza, A. M. and Cantatore, P. (1998). "Aging and mitochondria." Biochimie 80(10):863-870.

Gammage, P. A., Rorbach, J., Vincent, A. I., Rebar, E. J. and Minczuk, M. (2014). "Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations." EMBO Mol Med 6(4):458-466.

Ganetzky, R. D. and Falk, M. J. (2018). "8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease." Mol Genet Metab 123(3):301-308.

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.

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.

Gebhard, D., Mahler, B., Matt, K., Burger, K. and Bergemann, J. (2014). "Mitochondrial DNA copy number - but not a mitochondrial tandem CC to TT transition - is increased in sun-exposed skin." Exp Dermatol 23(3):209-211.

Gendron, S. P., Mallet, J. D., Bastien, N. and Rochette, P. J. (2012). "Mitochondrial DNA common deletion in the human eye: a relation with corneal aging." Mech Ageing Dev 133(2-3):68-74.

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.

Gerhard, G. S., Benko, F. A., Allen, R. G., Tresini, M., Kalbach, A., Cristofalo, V. J. and Gocke, C. D. (2002). "Mitochondrial DNA mutation analysis in human skin fibroblasts from fetal, young, and old donors." Mech Ageing Dev 123(2-3):155-166.

Gholinezhad Chari, M., Hosseinzadeh Colagar, A. and Bidmeshkipour, A. (2015). "A novel large-scale deletion of the mitochondrial DNA of spermatozoa of men in north iran." Int J Fertil Steril 8(4):453-463.

Gibson, T. C., Kubisch, H. M. and Brenner, C. A. (2005). "Mitochondrial DNA deletions in rhesus macaque oocytes and embryos." Mol Hum Reprod 11(11):785-789.

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." Hum Mol Genet 18(2):328-340.

Goios, A., Nogueira, C., Pereira, C., Vilarinho, L., Amorim, A. and Pereira, L. (2005). "mtDNA single macrodeletions associated with myopathies: absence of haplogroup-related increased risk." J Inherit Metab Dis 28(5):769-778.

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.

Grady, J. P., Campbell, G., Ratnaike, T., Blakely, E. L., Falkous, G., Nesbitt, V., Schaefer, A. M., McNally, R. J., Gorman, G. S., Taylor, R. W., Turnbull, D. M. and McFarland, R. (2014). "Disease progression in patients with single, large-scale mitochondrial DNA deletions." Brain 137(Pt 2):323-334.

Graff, C., Clayton, D. A. and Larsson, N. G. (1999). "Mitochondrial medicine--recent advances." J Intern Med 246(1):11-23.

Greaves, L. C., Reeve, A. K., Taylor, R. W. and Turnbull, D. M. (2012). "Mitochondrial DNA and disease." J Pathol 226(2):274-286.

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.

Grünewald, T., Porschke, H., Goebel, H., Reichmann, H. and Seibel, P. (1999). Drug Development Research 46(1):80-85.

Gucer, S., Talim, B., Asan, E., Korkusuz, P., Ozen, S., Unal, S., Kalkanoglu, S. H., Kale, G. and Caglar, M. (2005). "Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: report of two cases with special emphasis on podocytes." Pediatr Dev Pathol 8(6):710-717.

Guerra, F., Arbini, A. A. and Moro, L. (2017). "Mitochondria and cancer chemoresistance." Biochim Biophys Acta Bioenerg 1858(8):686-699.

Guillausseau, P. J., Tielmans, D., Virally-Monod, M. and Assayag, M. (1997). "Diabetes: from phenotypes to genotypes." Diabetes Metab 23 Suppl 2:14-21.

Guirado Gimenez, F., Montoya Villarroya, J., Olivan del Cacho, M. J., Playan Ariso, A., Alcaine Villarroya, M. J., Rabano Rodriguez, A., Baldellou Vazquez, A. and Lopez-Pison, J. (1998). "[A patient with Pearson and Kearns-Sayre syndrome and a common 4.9 Kb deletion of mitochondrial DNA in blood]." An Esp Pediatr 49(5):510-512.

Gurakan, B., Ozbek, N., Varan, B. and Demirhan, B. (1999). "Fatal acidosis in a neonate with Pearson syndrome." Turk J Pediatr 41(3):361-364.

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.

Gwak, G. Y., Lee, D. H., Moon, T. G., Choi, M. S., Lee, J. H., Koh, K. C., Paik, S. W., Joh, J. W. and Yoo, B. C. (2011). "The correlation of hepatitis B virus pre-S mutation with mitochondrial D-loop mutations and common deletions in hepatocellular carcinoma." Hepatogastroenterology 58(106):522-528.

Haas, R. H., Nasirian, F., Hua, X., Nakano, K. and Hennessy, M. (1995). "Oxidative metabolism in Rett syndrome: 2. Biochemical and molecular studies." Neuropediatrics 26(2):95-99.

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." Int J Cancer 83(5):625-629.

Hafner, C., Kamenisch, Y., Landthaler, M. and Berneburg, M. (2011). "Distinct profile of the mitochondrial DNA common deletion in benign skin lesions." Exp Dermatol 20(2):151-153.

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.

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.

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). "Growing old: the most common mitochondrial disease of all?" Nat Genet 2(4):251-252.

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.

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.

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., 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.

Hedermann, G., Lokken, N., Dahlqvist, J. R. and Vissing, J. (2017). "Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA." Mitochondrion 32:27-30.

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.

Higuchi, M., Kudo, T., Suzuki, S., Evans, T. T., Sasaki, R., Wada, Y., Shirakawa, T., Sawyer, J. R. and Gotoh, A. (2006). "Mitochondrial DNA determines androgen dependence in prostate cancer cell lines." Oncogene 25(10):1437-1445.

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-S149.

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." Journal of Neurology, Neurosurgery and Psychiatry 61(4):422-423.

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 Res 47(10):e59.

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. (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.

Horga, A., Pitceathly, R. D., Blake, J. C., Woodward, C. E., Zapater, P., Fratter, C., Mudanohwo, E. E., Plant, G. T., Houlden, H., Sweeney, M. G., Hanna, M. G. and Reilly, M. M. (2014). "Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia." Brain 137(Pt 12):3200-3212.

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 and Cancer 15(2):95-101.

Hossein, R. and Houshmand, M. (2008). "Diagnostic algorithm for identification of individuals with hereditary predisposition to breast cancer." Lik Sprava (1-2):103-108.

Hou, J. H. and Wei, Y. H. (1996). "The unusual structures of the hot-regions flanking large-scale deletions in human mitochondrial DNA." Biochem J 318 ( Pt 3):1065-1070.

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.

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 opthalmoplagia." Neurol India 54(2):182-185.

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 81(Suppl 1):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., 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.

Hsu, C. H., Kwon, H., Perng, C. L., Bai, R. K., Dai, P. and Wong, L. J. (2005). "Hearing loss in mitochondrial disorders." Ann N Y Acad Sci 1042:36-47.

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.

Hubbard, K., Steinberg, M. L., Hill, H. and Orlow, I. (2008). "Mitochondrial DNA deletions in skin from melanoma patients." Ethn Dis 18(2 Suppl 2):S2-38-43.

Hwang, B. J., Kuttamperoor, F., Wu, J. and Steinberg, M. L. (2009). "Spectrum of mitochondrial DNA deletions within the common deletion region induced by low levels of UVB irradiation of human keratinocytes in vitro." Gene 440(1-2):23-27.

Ieremiadou, F. and Rodakis, G. C. (2009). "Correlation of the 4977 bp mitochondrial DNA deletion with human sperm dysfunction." BMC Res Notes 2:18.

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.

Imagawa, A., Nakajima, H., Itoh, N., Miyagawa, J., Waguri, M., Horikawa, Y., Inada, M., Tamura, S., Kawata, S., Kuwajima, M. and et al. (1995). "Mitochondrial DNA mutations in pancreatic biopsy specimens from IDDM patients." Diabetes Res Clin Pract 30(2):79-87.

Indo, H. P., Davidson, M., Yen, H. C., Suenaga, S., Tomita, K., Nishii, T., Higuchi, M., Koga, Y., Ozawa, T. and Majima, H. J. (2007). "Evidence of ROS generation by mitochondria in cells with impaired electron transport chain and mitochondrial DNA damage." Mitochondrion 7(1-2):106-118.

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, 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.

Iwai, K., Iwamura, Y., Yamashita, S., Wadano, Y. and Mesaki, N. (2006). "Effect of tea catechins on mitochondrial DNA 4977-bp deletions in human leucocytes." Mutat Res 595(1-2):191-195.

Iwai, K., Miyao, M., Wadano, Y. and Iwamura, Y. (2003). "Dynamic changes of deleted mitochondrial DNA in human leucocytes after endurance exercise." Eur J Appl Physiol 88(6):515-519.

Izzotti, A., Longobardi, M., Cartiglia, C. and Sacca, S. C. (2011). "Mitochondrial damage in the trabecular meshwork occurs only in primary open-angle glaucoma and in pseudoexfoliative glaucoma." PLoS One 6(1):e14567.

Izzotti, A., Piana, A., Minniti, G., Vercelli, M., Perrone, L. and De Flora, S. (2007). "Survival of atherosclerotic patients as related to oxidative stress and gene polymorphisms." Mutat Res 621(1-2):119-128.

Izzotti, A., Sacca, S. C., Longobardi, M. and Cartiglia, C. (2010). "Mitochondrial damage in the trabecular meshwork of patients with glaucoma." Arch Ophthalmol 128(6):724-730.

Jaeger, A., Weiss, D. G., Jonas, L. and Kriehuber, R. (2012). "Oxidative stress-induced cytotoxic and genotoxic effects of nano-sized titanium dioxide particles in human HaCaT keratinocytes." Toxicology 296(1-3):27-36.

Jansson, M., Darin, N., Kyllerman, M., Martinsson, T., Wahlstrom, J. and Oldfors, A. (2000). "Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy." Acta Neuropathol 100(1):23-28.

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.

Johns, D. R. (1990). "MtDNA deletions in Kearns-Sayre." Neurology 40(8):1322-1323.

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., 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.

Johnston, W., Karpati, G., Carpenter, S., Arnold, D. and Shoubridge, E. A. (1995). "Late-onset mitochondrial myopathy." Ann Neurol 37(1):16-23.

Kakiuchi, C., Ishiwata, M., Kametani, M., Nelson, C., Iwamoto, K. and Kato, T. (2005). "Quantitative analysis of mitochondrial DNA deletions in the brains of patients with bipolar disorder and schizophrenia." Int J Neuropsychopharmacol 8(4):515-522.

Kamalidehghan, B. and Houshmand, M. (2013). "Pitfalls for common mitochondrial DNA deletion (DeltamtDNA4977) as a biomarker of cancer." Arch Med Res 44(1):79-80.

Kamalidehghan, B., Houshmand, M., Ismail, P., Panahi, M. S. and Akbari, M. H. (2006). "Delta mtDNA4977 is more common in non-tumoral cells from gastric cancer sample." Arch Med Res 37(6):730-735.

Kamalidehghan, B., Houshmand, M., Panahi, M. S., Abbaszadegan, M. R., Ismail, P. and Shiroudi, M. B. (2006). "Tumoral cell mtDNA approximately 8.9 kb deletion is more common than other deletions in gastric cancer." Arch Med Res 37(7):848-853.

Kamenisch, Y. and Berneburg, M. (2013). "Mitochondrial CSA and CSB: protein interactions and protection from ageing associated DNA mutations." Mech Ageing Dev 134(5-6):270-274.

Kamenisch, Y., Wenz, J., Metzler, G., Bauer, J., Neubauer, H., Garbe, C., Rocken, M. and Berneburg, M. (2007). "The mitochondrial DNA common deletion is present in most basal and squamous cell carcinoma samples isolated by laser capture microdissection but generally at reduced rather than increased levels." J Invest Dermatol 127(2):486-490.

Kaneko, N., Vierkoetter, A., Kraemer, U., Sugiri, D., Matsui, M., Yamamoto, A., Krutmann, J. and Morita, A. (2012). "Mitochondrial common deletion mutation and extrinsic skin ageing in German and Japanese women." Exp Dermatol 21 Suppl 1:26-30.

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.

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.

Karimova, A., Hacioglu, Y., Bahtiyar, N., Niyazoglu, M., Akbas, F., Yilmaz, E., Ulutin, T. and Onaran, I. (2018). "Increased mitochondrial common deletion in platelets from patients with type 2 diabetes is not associated with abnormal platelet activity or mitochondrial function." Mol Med Rep 18(3):3529-3536.

Karimova, A., Oltulu, Y. M., Azakli, H., Kara, M., Ustek, D., Tutluoglu, B. and Onaran, I. (2017). "Lack of association between increased mitochondrial DNA(4977) deletion and ATP levels of sputum cells from chronic obstructive pulmonary disease patients versus healthy smokers." Mitochondrial DNA A DNA Mapp Seq Anal 28(3):361-369.

Karunadharma, P. P., Nordgaard, C. L., Olsen, T. W. and Ferrington, D. A. (2010). "Mitochondrial DNA damage as a potential mechanism for age-related macular degeneration." Investigative Ophthalmology and Visual Science 51(11):5470-5779.

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, T. (2005). "[Mitochondrial dysfunction in bipolar disorder]." Nihon Shinkei Seishin Yakurigaku Zasshi 25(2):61-72.

Kato, T. and Takahashi, Y. (1996). "Deletion of leukocyte mitochondrial DNA in bipolar disorder." J Affect Disord 37(2-3):67-73.

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.

Kenney, M. C., Atilano, S. R., Boyer, D., Chwa, M., Chak, G., Chinichian, S., Coskun, P., Wallace, D. C., Nesburn, A. B. and Udar, N. S. (2010). "Characterization of retinal and blood mitochondrial DNA from age-related macular degeneration patients." Invest Ophthalmol Vis Sci 51(8):4289-4297.

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.

Kim, E. J., Kim, S. Y., Yun, H. J., Kim, C. G., Jeong, J. W., Kim, T. H., Kim, C. H., Darroudi, F. and Kang, C. M. (2012). "Detection and quantification of a radiation-associated mitochondrial DNA deletion by a nested real-time PCR in human peripheral lymphocytes." Mutat Res 749(1-2):53-59.

Kim, S. H. and Chi, J. G. (1997). "Characterization of a mitochondrial DNA deletion in patients with mitochondrial myopathy." Molecules and 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, U. K., Kim, H. S., Oh, B. H., Lee, M. M., Kim, S. H., Chae, J. J., Choi, H. S., Choe, S. C., Lee, C. C. and Park, Y. B. (2000). "Analysis of mitochondrial DNA deletions in four chambers of failing human heart: hemodynamic stress, age, and disease are important factors." Basic Res Cardiol 95(2):163-171.

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(4):730-736.

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.

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." Hum Genet 100(5-6):643-650.

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.

Koch, H., Wittern, K. P. and Bergemann, J. (2001). "In human keratinocytes the Common Deletion reflects donor variabilities rather than chronologic aging and can be induced by ultraviolet A irradiation." J Invest Dermatol 117(4):892-897.

Koene, S., Kozicz, T. L., Rodenburg, R. J., Verhaak, C. M., de Vries, M. C., Wortmann, S., van de Heuvel, L., Smeitink, J. A. and Morava, E. (2009). "Major depression in adolescent children consecutively diagnosed with mitochondrial disorder." J Affect Disord 114(1-3):327-332.

Kong, W. J., Hu, Y. J., Wang, Q., Wang, Y., Han, Y. C., Cheng, H. M., Kong, W. and Guan, M. X. (2006). "The effect of the mtDNA4834 deletion on hearing." Biochemical and Biophysical Research Communications 344(1):425-430.

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.

Kornblum, C., Broicher, R., Walther, E., Seibel, P., Reichmann, H., Klockgether, T., Herberhold, C. and Schroder, R. (2001). "Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions." Neurology 56(10):1409-1412.

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.

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.

Krishnan, K. J. and Birch-Machin, M. A. (2006). "The incidence of both tandem duplications and the common deletion in mtDNA from three distinct categories of sun-exposed human skin and in prolonged culture of fibroblasts." J Invest Dermatol 126(2):408-415.

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., Lindsey, J., Lusher, M., Lowes, S. and Birch-Machin, M. A. (2003). "Current pitfalls in the measurement of the 4977 bp mitochondrial DNA common deletion in human skin." J Invest Dermatol 120(6):981-982.

Krishnan, K. J., Ratnaike, T. E., De Gruyter, H. L., Jaros, E. and Turnbull, D. M. (2012). "Mitochondrial DNA deletions cause the biochemical defect observed in Alzheimer's disease." Neurobiol Aging 33(9):2210-2214.

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.

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, S. and Wilichowski, E. (2018). "Combination of microdissection and single cell quantitative real-time PCR revealed intercellular mitochondrial DNA heterogeneities in fibroblasts of Kearns-Sayre syndrome patients." Mitochondrion 43:37-42.

Kunz, A., von Wurmb-Schwark, N., Sewangi, J., Ziske, J., Lau, I., Mbezi, P., Theuring, S., Hauser, A., Dugange, F., Katerna, A. and Harms, G. (2012). "Zidovudine exposure in HIV-1 infected Tanzanian women increases mitochondrial DNA levels in placenta and umbilical cords." PLoS One 7(7):e41637.

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.

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." Ir Med J 96(8):249-250.

Larsson, N. G. and Clayton, D. A. (1995). "Molecular genetic aspects of human mitochondrial disorders." Annu Rev Genet 29:151-178.

Larsson, N. G. and Holme, E. (1992). "Multiple short direct repeats associated with single mtDNA deletions." Biochim Biophys Acta 1139(4):311-314.

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., 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.

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.

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., 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, J. S., Ko, Y. G., Shin, K. J., Kim, S. K., Park, J. H., Hwang, K. C. and Pak, H. N. (2015). "Mitochondrial DNA 4977bp deletion mutation in peripheral blood reflects atrial remodeling in patients with non-valvular atrial fibrillation." Yonsei Med J 56(1):53-61.

Lee, S. J., Na, J. H., Han, J. and Lee, Y. M. (2018). "Ophthalmoplegia in Mitochondrial Disease." Yonsei Med J 59(10):1190-1196.

Lehmann, H. C., Chen, W., Borzan, J., Mankowski, J. L. and Hoke, A. (2011). "Mitochondrial dysfunction in distal axons contributes to human immunodeficiency virus sensory neuropathy." Ann Neurol 69(1):100-110.

Lenaz, G., Cavazzoni, M., Genova, M. L., D'Aurelio, M., Merlo Pich, M., Pallotti, F., Formiggini, G., Marchetti, M., Parenti Castelli, G. and Bovina, C. (1998). "Oxidative stress, antioxidant defences and aging." Biofactors 8(3-4):195-204.

Lestienne, P. (1989). "Mitochondrial and nuclear DNA complementation in the respiratory chain function and defects." Biochimie 71(11-12):1115-1123.

Lestienne, P. and Ponsot, G. (1988). "Kearns-Sayre syndrome with muscle mitochondrial DNA deletion." Lancet 1(8590):885.

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.

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, 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., Fradley, S. R., Griffiths, A. P., Baxter, P. W. and Parry, J. M. (2002). "Mitochondrial DNA mutations in the parotid gland of cigarette smokers and non-smokers." Mutat Res 518(1):47-54.

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, H., Liu, D., Lu, J. and Bai, Y. (2012). "Physiology and pathophysiology of mitochondrial DNA." Adv Exp Med Biol 942:39-51.

Li, J., Dai, X., He, X., Yang, R., Xia, Z. and Xiao, H. (2019). "Effect of SOD2 methylation on mitochondrial DNA4834-bp deletion mutation in marginal cells under oxidative stress." Bosn J Basic Med Sci.

Li, M., Foli, Y., Liu, Z., Wang, G., Hu, Y., Lu, Q., Selvaraj, S., Lam, W. and Paintsil, E. (2017). "High frequency of mitochondrial DNA mutations in HIV-infected treatment-experienced individuals." HIV Med 18(1):45-55.

Li, T., Chen, G. L., Lan, H., Mao, L. and Zeng, B. (2016). "Prevalence of the 4977-bp and 4408-bp mitochondrial DNA deletions in mesenteric arteries from patients with colorectal cancer." Mitochondrial DNA A DNA Mapp Seq Anal 27(5):3774-3776.

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." Diabetes 46(5):920-923.

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 Radic Biol Med 35(10):1310-1318.

Lindgren, U., Roos, S., Hedberg Oldfors, C., Moslemi, A. R., Lindberg, C. and Oldfors, A. (2015). "Mitochondrial pathology in inclusion body myositis." Neuromuscul Disord 25(4):281-288.

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., 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.

Liu, H. M., Tsai, L. P., Chien, Y. H., Wu, J. F., Weng, W. C., Peng, S. F., Wu, E. T., Huang, P. H., Lee, W. T., Tsai, I. J., Hwu, W. L. and Lee, N. C. (2012). "A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child." Pediatr Neonatol 53(4):264-268.

Liu, H., Han, Y., Wang, S. and Wang, H. (2015). "Association between the mitochondrial DNA 4977 common deletion in the hair shaft and hearing loss in presbycusis." Mol Med Rep 11(2):1127-1131.

Liu, J., Fang, H., Chi, Z., Wu, Z., Wei, D., Mo, D., Niu, K., Balajee, A. S., Hei, T. K., Nie, L. and Zhao, Y. (2015). "XPD localizes in mitochondria and protects the mitochondrial genome from oxidative DNA damage." Nucleic Acids Res 43(11):5476-5488.

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." Hum Mutat 11(3):191-196.

Lu, Z., Fischer, T. W., Hasse, S., Sugawara, K., Kamenisch, Y., Krengel, S., Funk, W., Berneburg, M. and Paus, R. (2009). "Profiling the response of human hair follicles to ultraviolet radiation." J Invest Dermatol 129(7):1790-1804.

Luigetti, M., Primiano, G., Cuccagna, C., Bernardo, D., Sauchelli, D., Vollono, C. and Servidei, S. (2018). "Small fibre neuropathy in mitochondrial diseases explored with sudoscan." Clin Neurophysiol 129(8):1618-1623.

Maassen, J. A. and Kadowaki, T. (1996). "Maternally inherited diabetes and deafness: a new diabetes subtype." Diabetologia 39(4):375-382.

Maguire, D., Zhang, S. B. and Okunieff, P. (2014). "Mitochondrial genetic abnormalities after radiation exposure." Adv Exp Med Biol 812:1-7.

Mahato, B., Jash, S. and Adhya, S. (2011). "RNA-mediated restoration of mitochondrial function in cells harboring a Kearns Sayre Syndrome mutation." Mitochondrion 11(4):564-574.

Majora, M., Wittkampf, T., Schuermann, B., Schneider, M., Franke, S., Grether-Beck, S., Wilichowski, E., Bernerd, F., Schroeder, P. and Krutmann, J. (2009). "Functional consequences of mitochondrial DNA deletions in human skin fibroblasts: increased contractile strength in collagen lattices is due to oxidative stress-induced lysyl oxidase activity." Am J Pathol 175(3):1019-1029.

Mamdani, F., Rollins, B., Morgan, L., Sequeira, P. A. and Vawter, M. P. (2014). "The somatic common deletion in mitochondrial DNA is decreased in schizophrenia." Schizophr Res 159(2-3):370-375.

Manaligod, J. M., Milam, M., Hill, S. A., Sanders, T., Skaggs, J. and Smith, R. J. (2000). "Age-related mitochondrial DNA mutations in the human larynx." Laryngoscope 110(12):2123-2127.

Mancuso, M., Ricci, G., Choub, A., Filosto, M., DiMauro, S., Davidzon, G., Tessa, A., Santorelli, F. M., Murri, L. and Siciliano, G. (2008). "Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family." J Affect Disord 106(1-2):173-177.

Mann, V. M., Cooper, J. M. and Schapira, A. H. V. (1992). "Quantitation of a mitochondrial DNA deletion in Parkinson's disease." FEBS Letters 299(3):218-222.

Marin-Garcia, J., Ananthakrishnan, R. and Goldenthal, M. J. (1994). "Presence of a mitochondrial DNA deletion in fetal and adult bovine cardiac tissue." Biochem Mol Biol Int 33(5):817-825.

Marin-Garcia, J., Ananthakrishnan, R., Goldenthal, M. J., Filiano, J. J. and Perez-Atayde, A. (1997). "Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy." Journal of Inherited Metabolic Disease 20(5):674-680.

Markaryan, A., Nelson, E. G. and Hinojosa, R. (2008). "Detection of mitochondrial DNA deletions in the cochlea and its structural elements from archival human temporal bone tissue." Mutat Res 640(1-2):38-45.

Markaryan, A., Nelson, E. G. and Hinojosa, R. (2009). "Quantification of the mitochondrial DNA common deletion in presbycusis." Laryngoscope 119(6):1184-1189.

Markaryan, A., Nelson, E. G. and Hinojosa, R. (2010). "Major arc mitochondrial DNA deletions in cytochrome c oxidase-deficient human cochlear spiral ganglion cells." Acta Otolaryngol 130(7):780-787.

Markaryan, A., Nelson, E. G., Tretiakova, M. and Hinojosa, R. (2008). "Technical report: laser microdissection of cochlear structures from celloidin embedded human temporal bone tissues and detection of the mitochondrial DNA common deletion using real time PCR." Hear Res 244(1-2):1-6.

Martikainen, M. H., Hinttala, R., Roytta, M., Jaaskelainen, S., Wendelin-Saarenhovi, M., Parkkola, R. and Majamaa, K. (2012). "Progressive external ophthalmoplegia in southwestern Finland: a clinical and genetic study." Neuroepidemiology 38(2):114-119.

Massanella, M., Karris, M. Y., Perez-Santiago, J., Yek, C., Vitomirov, A. and Mehta, S. R. (2018). "Analyses of mitochondrial DNA and immune phenotyping suggest accelerated T-cell turnover in treated HIV." Journal of Acquired Immune Deficiency Syndromes 79(3):399-406.

Mawrin, C., Kirches, E. and Dietzmann, K. (2003). "Single-cell analysis of mtDNA in amyotrophic lateral sclerosis: towards the characterization of individual neurons in neurodegenerative disorders." Pathol Res Pract 199(6):415-418.

Mawrin, C., Kirches, E., Krause, G., Schneider-Stock, R., Bogerts, B., Vorwerk, C. K. and Dietzmann, K. (2004). "Region-specific analysis of mitochondrial DNA deletions in neurodegenerative disorders in humans." Neurosci Lett 357(2):111-114.

Mawrin, C., Kirches, E., Krause, G., Wiedemann, F. R., Vorwerk, C. K., Bogerts, B., Schildhaus, H. U., Dietzmann, K. and Schneider-Stock, R. (2004). "Single-cell analysis of mtDNA deletion levels in sporadic amyotrophic lateral sclerosis." Neuroreport 15(6):939-943.

Maximo, V. and Sobrinho-Simoes, M. (2000). "Mitochondrial DNA 'common' deletion in Hurthle cell lesions of the thyroid." J Pathol 192(4):561-562.

Maximo, V., Soares, P., Lima, J., Cameselle-Teijeiro, J. and Sobrinho-Simoes, M. (2002). "Mitochondrial DNA somatic mutations (point mutations and large deletions) and mitochondrial DNA variants in human thyroid pathology: a study with emphasis on Hurthle cell tumors." American Journal of Pathology 160(5):1857-1865.

Maximo, V., Soares, P., Rocha, A. S. and Sobrinho-Simoes, M. (1998). "The common deletion of mitochondrial DNA is found in goiters and thyroid tumors with and without oxyphil cell change." Ultrastructural Pathology 22(3):271-273.

Maximo, V., Soares, P., Seruca, R., Rocha, A. S., Castro, P. and Sobrinho-Simoes, M. (2001). "Microsatellite instability, mitochondrial DNA large deletions, and mitochondrial DNA mutations in gastric carcinoma." Genes Chromosomes Cancer 32(2):136-143.

McDonald, D. G., McMenamin, J. B., Farrell, M. A., Droogan, O. and Green, A. J. (2002). "Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DNA deletion." Am J Med Genet 111(2):191-194.

McGregor, A., Smith, P. M., Ross, G. F., Taylor, R. W., Turnbull, D. M. and Lightowlers, R. N. (2003). "Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase gamma in vitro is not impaired." Biochim Biophys Acta 1629(1-3):73-83.

McShane, M. A., Hammans, M., Sweeney, I., Holt, I. J., Beattie, T. J., Brett, E. M. and Harding, A. E. (1991). "Pearson Syndrome and mitochondrial encephalomyopathy in patient with a deletion of mtDNA." American Journal of Human Genetics 48(1):39-42.

Mehmet, D., Ahmed, F., Cummins, J. M., Martin, R. and Whelan, J. (2001). "Quantification of the common deletion in human testicular mitochondrial DNA by competitive PCR assay using a chimaeric competitor." Mol Hum Reprod 7(3):301-306.

Meissner, C. and von Wurmb, N. (1998). "Sensitive detection of the 4977-bp deletion in human mitochondrial DNA of young individuals." Biotechniques 25(4):652-654.

Meissner, C., Mohamed, S. A., von Wurmb, N. and Oehmichen, M. (2001). "[The mitochondrial genome and aging]." Z Gerontol Geriatr 34(6):447-451.

Melberg, A., Moslemi, A. R., Palm, O., Raininko, R., Stalberg, E. and Oldfors, A. (2009). "A patient with two mitochondrial DNA mutations causing PEO and LHON." Eur J Med Genet 52(1):47-48.

Melov, S., Shoffner, J. M., Kaufman, A. and Wallace, D. C. (1995). "Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle [published erratum appears in Nucleic Acids Res 1995 Dec 11;23(23):4938]." Nucleic Acids Research 23(20):4122-4126.

Merelli, E., Selleri, L., Ferrari, S., Sola, P., Colombo, A. and Torelli, G. (1991). "Mitochondrial DNA deletion in oculoskeletal myopathy." Eur Neurol 31(3):160-163.

Mezghani, N., Mnif, M., Mkaouar-Rebai, E., Kallel, N., Charfi, N., Abid, M. and Fakhfakh, F. (2013). "A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions." Biochemical and Biophysical Research Communications 431(4):670-674.

Mita, S., Rizzuto, R., Moraes, C. T., Shanske, S., Arnaudo, E., Fabrizi, G. M., Koga, Y., DiMauro, S. and Schon, E. A. (1990). "Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA." Nucleic Acids Research 18(3):561-567.

Mita, S., Schmidt, B., Schon, E. A., DiMauro, S. and Bonilla, E. (1989). "Detection of 'deleted' mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome." Proceedings of the National Academy of Sciences of the United States of America 86(23):9509-9513.

Miyabayashi, S., Hanamizu, H., Endo, H., Tada, K. and Horai, S. (1991). "A new type of mitochondrial DNA deletion in patients with encephalomyopathy." Journal of Inherited Metabolic Disease 14(5):805-812.

Mkaouar-Rebai, E., Chamkha, I., Kammoun, T., Chabchoub, I., Aloulou, H., Fendri, N., Hachicha, M. and Fakhfakh, F. (2010). "A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles." Mitochondrion 10(5):449-455.

Mohamed, S. A., Hanke, T., Erasmi, A. W., Bechtel, M. J., Scharfschwerdt, M., Meissner, C., Sievers, H. H. and Gosslau, A. (2006). "Mitochondrial DNA deletions and the aging heart." Exp Gerontol 41(5):508-517.

Mohri, I., Taniike, M., Fujimura, H., Matsuoka, T., Inui, K., Nagai, T. and Okada, S. (1998). "A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up." Journal of the Neurological Sciences 158(1):106-109.

Moraes, C. T., Andreetta, F., Bonilla, E., Shanske, S., DiMauro, S. and Schon, E. A. (1991). "Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region." Molecular and Cellular Biology 11(3):1631-1637.

Moraes, C. T., DiMauro, S., Zeviani, M., Lombes, A., Shanske, S., et al. (1989). "Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome." The New England Journal of Medicine 320(20):1293-1299.

Moraes, C. T., Ricci, E., Petruzzella, V., Shanske, S., DiMauro, S., Schon, E. A. and Bonilla, E. (1992). "Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions." Nature Genetics 1(5):359-367.

Moraes, C. T., Sciacco, M., Ricci, E., Tengan, C. H., Hao, H., Bonilla, E., Schon, E. A. and DiMauro, S. (1995). "Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions." Muscle and Nerve 3(3):S150-S153.

Moraes, C. T., Zeviani, M., Schon, E. A., Hickman, R. O., Vlcek, B. W. and DiMauro, S. (1991). "Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?" American Journal of Medical Genetics 41(3):301-305.

Morikawa, Y., Matsuura, N., Kakudo, K., Higuchi, R., Koike, M. and Kobayashi, Y. (1993). "Pearson's marrow/pancreas syndrome: a histological and genetic study." Virchows Arch A, Pathological Anatomy and Histopathology 423(3):227-231.

Moslemi, A. R., Lindberg, C. and Oldfors, A. (1997). "Analysis of multiple mitochondrial DNA deletions in inclusion body myositis." Hum Mutat 10(5):381-386.

Muller-Hocker, J., Aust, D., Napiwotzky, J., Munscher, C., Link, T. A., Seibel, P., Schneeweiss, S. G. and Kadenbach, B. (1996). "Defects of the respiratory chain in oxyphil and chief cells of the normal parathyroid and in hyperfunction." Hum Pathol 27(6):532-541.

Muller-Hocker, J., Aust, D., Rohrbach, H., Napiwotzky, J., Reith, A., Link, T. A., Seibel, P., Holzel, D. and Kadenbach, B. (1997). "Defects of the respiratory chain in the normal human liver and in cirrhosis during aging." Hepatology 26(3):709-719.

Muller-Hocker, J., Jacob, U. and Seibel, P. (1998). "Hashimoto thyroiditis is associated with defects of cytochrome-c oxidase in oxyphil Askanazy cells and with the common deletion (4977) of mitochondrial DNA." Ultrastructural Pathology 22(1):91-100.

Muller-Hocker, J., Jacob, U. and Seibel, P. (1998). "The common 4977 base pair deletion of mitochondrial DNA preferentially accumulates in the cardiac conduction system of patients with Kearns-Sayre syndrome." Modern Pathology 11(3):295-301.

Muller-Hocker, J., Seibel, P., Schneiderbanger, K. and Kadenbach, B. (1993). "Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly." Virchows Arch A, Pathological Anatomy and Histopathology 422(1):7-15.

Muller-Hocker, J., Seibel, P., Schneiderbanger, K., Zietz, C., Obermaier-Kusser, B., Gerbitz, K. D. and Kadenbach, B. (1992). "In situ hybridization of mitochondrial DNA in the heart of a patient with Kearns-Sayre syndrome and dilatative cardiomyopathy." Hum Pathol 23(12):1431-1437.

Munscher, C., Rieger, T., Muller-Hocker, J. and Kadenbach, B. (1993). "The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages." FEBS Letters 317(1-2):27-30.

Murphy, J. E., Nugent, S., Seymour, C. and Mothersill, C. (2005). "Mitochondrial DNA point mutations and a novel deletion induced by direct low-LET radiation and by medium from irradiated cells." Mutat Res 585(1-2):127-136.

Muscari, C., Giaccari, A., Stefanelli, C., Viticchi, C., Giordano, E., Guarnieri, C. and Caldarera, C. M. (1996). "Presence of a DNA-4236 bp deletion and 8-hydroxy-deoxyguanosine in mouse cardiac mitochondrial DNA during aging." Aging (Milano) 8(6):429-433.

Nadasi, E. A., Melegh, B., Seress, L. and Kosztolanyi, G. (2003). "Mitochondrial DNA4977 deletion in brain of newborns died after intensive care." Acta Biol Hung 54(3-4):253-262.

Nadasi, E., Melegh, B., Seress, L. and Kosztolanyi, G. (2004). "[Mitochondrial DNA deletions in newborn brain samples]." Orv Hetil 145(25):1321-1325.

Naghizadeh, F., Varga, E. T., Molnar, M. J. and Hollo, G. (2014). "[Retinal ganglion cell layer and visual function in patients with progressive external ophthalmoplegia caused by common mtDNA deletion]." Ideggyogy Sz 67(9-10):335-341.

Nakagawa, M., Tokimura, M., Kuriyama, M., Higuchi, I. and Osame, M. (1991). "[Chronic progressive external ophthalmoplegia (CPEO); mitochondrial DNA deletion, brain MRI and electrophysiological studies]." Rinsho Shinkeigaku 31(9):981-986.

Nakai, A., Goto, Y., Fujisawa, K., Shigematsu, Y., Kikawa, Y., Konishi, Y., Nonaka, I. and Sudo, M. (1994). "Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion." Lancet 343(8910):1397-1398.

Nakase, H., Moraes, C. T., Rizzuto, R., Lombes, A., DiMauro, S. and Schon, E. A. (1990). "Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis." American Journal of Human Genetics 46(3):418-427.

Nelson, I., Bonne, G., Degoul, F., Marsac, C., Ponsot, G. and Lestienne, P. (1992). "Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations." Neuropediatrics 23(4):199-205.

Nelson, I., d'Auriol, L., Galibert, F., Ponsot, G. and Lestienne, P. (1989). "[Nucleotide mapping and a kinetic model of a heteroplasmic deletion of 4,666 base pairs from mitochondrial DNA in the Kearns-Sayre syndrome]." Comptes Rendus de l'Academie des Sciences - Serie III, Science de la Vie 309:403-407.

Niaudet, P., Heidet, L., Munnich, A., Schmitz, J., Bouissou, F., Gubler, M. C. and Rotig, A. (1994). "Deletion of the mitochondrial DNA in a case of de Toni-Debre-Fanconi syndrome and Pearson syndrome." Pediatric Nephrology 8(2):164-168.

Nicklas, J. A., Brooks, E. M., Hunter, T. C., Single, R. and Branda, R. F. (2004). "Development of a quantitative PCR (TaqMan) assay for relative mitochondrial DNA copy number and the common mitochondrial DNA deletion in the rat." Environ Mol Mutagen 44(4):313-320.

Nie, H., Chen, G., He, J., Zhang, F., Li, M., Wang, Q., Zhou, H., Lyu, J. and Bai, Y. (2016). "Mitochondrial common deletion is elevated in blood of breast cancer patients mediated by oxidative stress." Mitochondrion 26:104-112.

Nie, H., Shu, H., Vartak, R., Milstein, A. C., Mo, Y., Hu, X., Fang, H., Shen, L., Ding, Z., Lu, J. and Bai, Y. (2013). "Mitochondrial common deletion, a potential biomarker for cancer occurrence, is selected against in cancer background: a meta-analysis of 38 studies." PLoS One 8(7):e67953.

Niu, R., Yoshida, M. and Ling, F. (2012). "Increases in mitochondrial DNA content and 4977-bp deletion upon ATM/Chk2 checkpoint activation in HeLa cells." PLoS One 7(7):e40572.

Norby, S., Lestienne, P., Nelson, I., Nielsen, I. M., Schmalbruch, H., Sjo, O. and Warburg, M. (1994). "Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder." Journal of Medical Genetics 31(1):45-50.

O'Connell, M., McClure, N. and Lewis, S. E. (2002). "A comparison of mitochondrial and nuclear DNA status in testicular sperm from fertile men and those with obstructive azoospermia." Hum Reprod 17(6):1571-1577.

Obermaier-Kusser, B., Muller-Hocker, J., Nelson, I., Lestienne, P., Enter, C., Riedele, T. and Gerbitz, K. D. (1990). "Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR." Biochemical and Biophysical Research Communications 169(3):1007-1015.

Oldfors, A., Larsson, N. G., Holme, E., Tulinius, M., Kadenbach, B. and Droste, M. (1992). "Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres." Journal of the Neurological Sciences 110(1-2):169-177.

Oldfors, A., Moslemi, A. R., Fyhr, I. M., Holme, E., Larsson, N. G. and Lindberg, C. (1995). "Mitochondrial DNA deletions in muscle fibers in inclusion body myositis." Journal of Neuropathology and Experimental Neurology 54(4):581-587.

Oldfors, A., Moslemi, A. R., Jonasson, L., Ohlsson, M., Kollberg, G. and Lindberg, C. (2006). "Mitochondrial abnormalities in inclusion-body myositis." Neurology 66(2 Suppl 1):S49-55.

Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., et al. (2017). "Revisiting mitochondrial ocular myopathies: a study from the Italian Network." J Neurol 264(8):1777-1784.

Ota, Y., Miyake, Y., Awaya, S., Kumagai, T., Tanaka, M. and Ozawa, T. (1994). "Early retinal involvement in mitochondrial myopathy with mitochondrial DNA deletion." Retina 14(3):270-276.

Ota, Y., Tanaka, M., Sato, W., Ohno, K., Yamamoto, T., Maehara, M., Negoro, T., Watanabe, K., Awaya, S. and Ozawa, T. (1991). "Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome." Investigative Ophthalmology and Visual Science 32(10):2667-2675.

Ozawa, T., Tanaka, M., Ikebe, S., Ohno, K., Kondo, T. and Mizuno, Y. (1990). "Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis." Biochemical and Biophysical Research Communications 172(2):483-489.

Ozawa, T., Yoneda, M., Tanaka, M., Ohno, K., Sato, W., Suzuki, H., Nishikimi, M., Yamamoto, M., Nonaka, I. and Horai, S. (1988). "Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy." Biochemical and Biophysical Research Communications 154(3):1240-1247.

Pallotti, F., Chen, X., Bonilla, E. and Schon, E. A. (1996). "Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging." American Journal of Human Genetics 59(3):591-602.

Pang, C. Y., Lee, H. C., Yang, J. H. and Wei, Y. H. (1994). "Human skin mitochondrial DNA deletions associated with light exposure." Archives of Biochemistry and Biophysics 312(2):534-538.

Pang, L. J., Shao, J. Y., Liang, X. M., Xia, Y. F. and Zeng, Y. X. (2008). "Mitochondrial DNA somatic mutations are frequent in nasopharyngeal carcinoma." Cancer Biology and Therapy 7(2):198-207.

Papadimitriou, A., Comi, G. P., Hadjigeorgiou, G. M., Bordoni, A., Sciacco, M., Napoli, L., Prelle, A., Moggio, M., Fagiolari, G., Bresolin, N., Salani, S., Anastasopoulos, I., Giassakis, G., Divari, R. and Scarlato, G. (1998). "Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome." Neurology 51(4):1086-1092.

Pavicic, W. H. and Richard, S. M. (2009). "Correlation analysis between mtDNA 4977-bp deletion and ageing." Mutat Res 670(1-2):99-102.

Peng, T. I., Yu, P. R., Chen, J. Y., Wang, H. L., Wu, H. Y., Wei, Y. H. and Jou, M. J. (2006). "Visualizing common deletion of mitochondrial DNA-augmented mitochondrial reactive oxygen species generation and apoptosis upon oxidative stress." Biochim Biophys Acta 1762(2):241-255.

Pfeffer, G., Cote, H. C., Montaner, J. S., Li, C. C., Jitratkosol, M. and Mezei, M. M. (2009). "Ophthalmoplegia and ptosis: mitochondrial toxicity in patients receiving HIV therapy." Neurology 73(1):71-72.

Pfeffer, G., Sirrs, S., Wade, N. K. and Mezei, M. M. (2011). "Multisystem disorder in late-onset chronic progressive external ophthalmoplegia." Can J Neurol Sci 38(1):119-123.

Phillips, A. F., Millet, A. R., Tigano, M., Dubois, S. M., Crimmins, H., Babin, L., Charpentier, M., Piganeau, M., Brunet, E. and Sfeir, A. (2017). "Single-molecule analysis of mtDNA replication uncovers the basis of the common deletion." Molecular Cell 65(3):527-538 e526.

Piatto, V. B., Pereira, M. C., da Silva, M. A. and Maniglia, J. V. (2009). "Tracking of the genetic deafness associated to the aging in Brazilian patients." Neurobiol Aging 30(7):1173-1174.

Pistilli, D., di Gioia, C. R., D'Amati, G., Sciacchitano, S., Quaglione, R., Quitadamo, R., Casali, C., Gallo, P. and Santorelli, F. M. (2003). "Detection of deleted mitochondrial DNA in Kearns-Sayre syndrome using laser capture microdissection." Human Pathology 34(10):1058-1061.

Pitceathly, R. D., Rahman, S. and Hanna, M. G. (2012). "Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice." Neuromuscul Disord 22(7):577-586.

Pitceathly, R. D., Smith, C., Fratter, C., Alston, C. L., He, L., et al. (2012). "Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics." Brain 135(Pt 11):3392-3403.

Pogozelski, W. K., Hamel, C. J. C., Woeller, C. F., Jackson, W. E., Zullo, S. J., Fischel-Ghodsian, N. and Blakely, W. F. (2003). "Quantification of total mitochondrial DNA and the 4977-bp common deletion in Pearson's syndrome lymphoblasts using a fluorogenic 5'-nuclease (TaqMan(TM)) real-time polymerase chain reaction assay and plasmid external calibration standards." Mitochondrion 2(6):415-427.

Polisecki, E. Y., Schreier, L. E., Ravioli, J. and Corach, D. (2004). "Common mitochondrial DNA deletion associated with sudden natural death in adults." J Forensic Sci 49(6):1335-1338.

Porteous, W. K., James, A. M., Sheard, P. W., Porteous, C. M., Packer, M. A., Hyslop, S. J., Melton, J. V., Pang, C. Y., Wei, Y. H. and Murphy, M. P. (1998). "Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion." European Journal of Biochemistry 257(1):192-201.

Potenza, L., Calcabrini, C., Bellis, R. D., Mancini, U., Polidori, E., Zeppa, S., Alloni, R., Cucchiarini, L. and Dacha, M. (2011). "Effect of surgical stress on nuclear and mitochondrial DNA from healthy sections of colon and rectum of patients with colorectal cancer." J Biosci 36(2):243-251.

Potenza, L., Calcabrini, C., De Bellis, R., Guescini, M., Mancini, U., Cucchiarini, L., Nappo, G., Alloni, R., Coppola, R., Dugo, L. and Dacha, M. (2011). "Effects of oxidative stress on mitochondrial content and integrity of human anastomotic colorectal dehiscence: a preliminary DNA study." Can J Gastroenterol 25(8):433-439.

Poulton, J., Deadman, M. E., Ramacharan, S. and Gardiner, R. M. (1991). "Germ-line deletions of mtDNA in mitochondrial myopathy." American Journal of Human Genetics 48(4):649-653.

Powers, J. M., Murphy, G., Ralph, N., O'Gorman, S. M. and Murphy, J. E. (2016). "Mitochondrial DNA deletion percentage in sun exposed and non sun exposed skin." J Photochem Photobiol B 165:277-282.

Powers, J. M., Murphy, G., Ralph, N., O'Gorman, S. M. and Murphy, J. E. J. (2017). "Polypharmacy and sun exposure: Implications for mitochondrial DNA deletions in skin." J Photochem Photobiol B 173:397-403.

Prithivirajsingh, S., Story, M. D., Bergh, S. A., Geara, F. B., Ang, K. K., Ismail, S. M., Stevens, C. W., Buchholz, T. A. and Brock, W. A. (2004). "Accumulation of the common mitochondrial DNA deletion induced by ionizing radiation." FEBS Letters 571(1-3):227-232.

Quan, C., Cho, M. K., Perry, D. and Quan, T. (2015). "Age-associated reduction of cell spreading induces mitochondrial DNA common deletion by oxidative stress in human skin dermal fibroblasts: implication for human skin connective tissue aging." Journal of Biomedical Science 22(1):62.

Ramirez-Miranda, A., Navas-Perez, A., Gurria-Quintana, L., Vargas-Ortega, J., Murillo-Correa, C. and Zenteno, J. C. (2008). "[PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre syndrome]." Arch Soc Esp Oftalmol 83(3):155-159.

Rao, M., Li, L., Demello, C., Guo, D., Jaber, B. L., Pereira, B. J. and Balakrishnan, V. S. (2009). "Mitochondrial DNA injury and mortality in hemodialysis patients." Journal of the American Society of Nephrology 20(1):189-196.

Raposo, M., Ramos, A., Santos, C., Kazachkova, N., Teixeira, B., Bettencourt, C. and Lima, M. (2019). "Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease." Mol Neurobiol 56(1):119-124.

Read, J. L., Whittaker, R. G., Miller, N., Clark, S., Taylor, R., McFarland, R. and Turnbull, D. (2012). "Prevalence and severity of voice and swallowing difficulties in mitochondrial disease." Int J Lang Commun Disord 47(1):106-111.

Reimann, V., Kramer, U., Sugiri, D., Schroeder, P., Hoffmann, B., Medve-Koenigs, K., Jockel, K. H., Ranft, U. and Krutmann, J. (2008). "Sunbed use induces the photoaging-associated mitochondrial common deletion." Journal of Investigative Dermatology 128(5):1294-1297.

Remes, A. M., Hassinen, I. E., Ikaheimo, M. J., Herva, R., Hirvonen, J. and Peuhkurinen, K. J. (1994). "Mitochondrial DNA deletions in dilated cardiomyopathy: a clinical study employing endomyocardial sampling." Journal of the American College of Cardiology 23(4):935-942.

Reynier, P., Figarella-Branger, D., Serratrice, G., Charvet, B. and Malthiery, Y. (1994). "Association of deletion and homoplasmic point mutation of the mitochondrial DNA in an ocular myopathy." Biochemical and Biophysical Research Communications 202(3):1606-1611.

Ro, L. S., Lai, S. L., Chen, C. M. and Chen, S. T. (2003). "Deleted 4977-bp mitochondrial DNA mutation is associated with sporadic amyotrophic lateral sclerosis: a hospital-based case-control study." Muscle and Nerve 28(6):737-743.

Rocha, M. C., Rosa, H. S., Grady, J. P., Blakely, E. L., He, L., Romain, N., Haller, R. G., Newman, J., McFarland, R., Ng, Y. S., Gorman, G. S., Schaefer, A. M., Tuppen, H. A., Taylor, R. W. and Turnbull, D. M. (2018). "Pathological mechanisms underlying single large-scale mitochondrial DNA deletions." Ann Neurol 83(1):115-130.

Rodriguez-Hernandez, M., Hirano, M., Arrieta, T., Lestayo, Z., Estrada, R., Santiesteban, R., Guerra-Badia, R., Galarraga, J., Gutierres, J., Hechevarria, E., Andreu, A., Montoya, J. and DiMauro, S. (2000). "[Molecular studies in Cuban patients with progressive external ophthalmoplegia]." Rev Neurol 30(11):1001-1005.

Rogounovitch, T. I., Saenko, V. A., Shimizu-Yoshida, Y., Abrosimov, A. Y., Lushnikov, E. F., Roumiantsev, P. O., Ohtsuru, A., Namba, H., Tsyb, A. F. and Yamashita, S. (2002). "Large deletions in mitochondrial DNA in radiation-associated human thyroid tumors." Cancer Res 62(23):7031-7041.

Rogounovitch, T., Saenko, V. and Yamashita, S. (2004). "Mitochondrial DNA and human thyroid diseases." Endocr J 51(3):265-277.

Rollins, B. L., Morgan, L., Hjelm, B. E., Sequeira, A., Schatzberg, A. F., Barchas, J. D., Lee, F. S., Myers, R. M., Watson, S. J., Akil, H., Potkin, S. G., Bunney, W. E. and Vawter, M. P. (2018). "Mitochondrial Complex I Deficiency in Schizophrenia and Bipolar Disorder and Medication Influence." Mol Neuropsychiatry 3(3):157-169.

Ross, C. M. (2005). "Folate, cancer, and the common 4,977 bp deletion." Cancer Epidemiol Biomarkers Prev 14(9):2277.

Rossato, L. B., Nunes, A. C., Pereira, M. L., de Souza, C. F., Dummer, C., Milani, V., Porsch, D. B., de Mattos, C. B. and Barros, E. J. (2008). "Prevalence of 4977bp deletion in mitochondrial DNA from patients with chronic kidney disease receiving conservative treatment or hemodialysis in southern Brazil." Renal Failure 30(1):9-14.

Rotig, A., Bourgeron, T., Chretien, D., Rustin, P. and Munnich, A. (1995). "Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome." Human Molecular Genetics 4(8):1327-1330.

Rotig, A., Colonna, M., Blanche, S., Fischer, A., LeDeist, F., Frezal, J., Saudubray, J. M. and Munnich, A. (1988). "Deletion of blood mitochondrial DNA in pancytopenia." Lancet 2(8610):567-568.

Rotig, A., Colonna, M., Bonnefont, J. P., Blanche, S., Fischer, A., Saudubray, J. M. and Munnich, A. (1989). "Mitochondrial DNA deletion in Pearson's marrow-pancreas syndrome." Lancet 1(8643):902-903.

Rotig, A., Cormier, V., Blanche, S., Bonnefont, J. P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A. and Saudubray, J. M. (1990). "Pearson's marrow-pancreas syndrome. A multi-system mitochondrial disorder in infancy." The Journal of Clinical Investigation 86:1601-1608.

Rotig, A., Cormier, V., Chatelain, P., Francois, R., Saudubray, J. M., Rustin, P. and Munnich, A. (1993). "Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)." The Journal of Clinical Investigation 91:1095-1098.

Rotig, A., Cormier, V., Koll, F., Mize, C. E., Saudubray, J.-M., Veerman, A., Pearson, H. A. and Munnich, A. (1991). "Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome." Genomics 10(2):502-504.

Rotig, A., Goutieres, F., Niaudet, P., Rustin, P., Chretien, D., Guest, G., Mikol, J., Gubler, M. C. and Munnich, A. (1995). "Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis." Journal of Pediatrics 126(4):597-601.

Russell, O. and Turnbull, D. (2014). "Mitochondrial DNA disease-molecular insights and potential routes to a cure." Exp Cell Res 325(1):38-43.

Sabunciyan, S., Kirches, E., Krause, G., Bogerts, B., Mawrin, C., Llenos, I. C. and Weis, S. (2007). "Quantification of total mitochondrial DNA and mitochondrial common deletion in the frontal cortex of patients with schizophrenia and bipolar disorder." J Neural Transm (Vienna) 114(5):665-674.

Saccone, C., Pesole, G. and Sbisa, E. (1991). "The main regulatory region of mammalian mitochondrial DNA: structure-function model and evolutionary pattern." J Mol Evol 33(1):83-91.

Sadikovic, B., Wang, J., El-Hattab, A. W., Landsverk, M., Douglas, G., Brundage, E. K., Craigen, W. J., Schmitt, E. S. and Wong, L. J. (2010). "Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes." PLoS One 5(12):e15687.

Salehi, Z., Haghighi, A., Haghighi, S., Aminian, K., Asl, S. F. and Mashayekhi, F. (2017). "[Mitochondrial DNA deletion Delta4977 in peptic ulcer disease]." Mol Biol (Mosk) 51(1):37-41.

Samuels, D. C., Schon, E. A. and Chinnery, P. F. (2004). "Two direct repeats cause most human mtDNA deletions." Trends Genet 20(9):393-398.

Samuels, R., Bayerri, C. R., Sayer, J. A., Price, D. A. and Payne, B. A. I. (2017). "Tenofovir disoproxil fumarate-associated renal tubular dysfunction: noninvasive assessment of mitochondrial injury." AIDS 31(9):1297-1301.

Sanaker, P. S., Husebye, E. S., Fondenes, O. and Bindoff, L. A. (2007). "Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure." Acta Neurol Scand Suppl 187:64-67.

Sano, T., Ban, K., Ichiki, T., Kobayashi, M., Tanaka, M., Ohno, K. and Ozawa, T. (1993). "Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome." Pediatric Research 34:105-110.

Santorelli, F. M., Barmada, M. A., Pons, R., Zhang, L. L. and DiMauro, S. (1996). "Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion." Neurology 47(5):1320-1323.

Santorelli, F. M., Sciacco, M., Tanji, K., Shanske, S., Vu, T. H., Golzi, V., Griggs, R. C., Mendell, J. R., Hays, A. P., Bertorini, T. E., Pestronk, A., Bonilla, E. and DiMauro, S. (1996). "Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients." Ann Neurol 39(6):789-795.

Sarzi, E. and Rotig, A. (2010). "[Mitochondrial genome instability and associated diseases]." Med Sci (Paris) 26(2):171-176.

Sbisa, E., Tanzariello, F., Reyes, A., Pesole, G. and Saccone, C. (1997). "Mammalian mitochondrial D-loop region structural analysis: identification of new conserved sequences and their functional and evolutionary implications." Gene 205(1-2):125-140.

Schaefer, A. M., Blakely, E. L., Griffiths, P. G., Turnbull, D. M. and Taylor, R. W. (2005). "Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis." Muscle and Nerve 32(1):104-107.

Schilling-Toth, B., Sandor, N., Kis, E., Kadhim, M., Safrany, G. and Hegyesi, H. (2011). "Analysis of the common deletions in the mitochondrial DNA is a sensitive biomarker detecting direct and non-targeted cellular effects of low dose ionizing radiation." Mutat Res 716(1-2):33-39.

Schoeler, S., Szibor, R., Gellerich, F. N., Wartmann, T., Mawrin, C., Dietzmann, K. and Kirches, E. (2005). "Mitochondrial DNA deletions sensitize cells to apoptosis at low heteroplasmy levels." Biochemical and Biophysical Research Communications 332(1):43-49.

Schon, E. A., Rizzuto, R., Moraes, C. T., Nakase, H., Zeviani, M. and DiMauro, S. (1989). "A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA." Science 244(4902):346-349.

Schoser, B. G. and Pongratz, D. (2006). "Extraocular mitochondrial myopathies and their differential diagnoses." Strabismus 14(2):107-113.

Schroeder, P., Gremmel, T., Berneburg, M. and Krutmann, J. (2008). "Partial depletion of mitochondrial DNA from human skin fibroblasts induces a gene expression profile reminiscent of photoaged skin." Journal of Investigative Dermatology 128(9):2297-2303.

Schroeder, P., Hertel, I., Schneider, M. and Krutmann, J. (2007). "The effect of processed water on constitutive and ultraviolet-A-radiation-induced level of mitochondrial DNA mutations in human dermal fibroblasts." Skin Pharmacol Physiol 20(2):116-119.

Sciacco, M., Bonilla, E., Schon, E. A., DiMauro, S. and Moraes, C. T. (1994). "Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy (published erratum appears in Hum. Mol. Genet. 3(4):687, 1994)." Human Molecular Genetics 3(1):13-19.

Seidman, M. D. (2000). "Effects of dietary restriction and antioxidants on presbyacusis." Laryngoscope 110(5 Pt 1):727-738.

Seneca, S., Vancampenhout, K., Van Coster, R., Smet, J., Lissens, W., Vanlander, A., De Paepe, B., Jonckheere, A., Stouffs, K. and De Meirleir, L. (2015). "Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?" European Journal of Human Genetics 23(1):41-48.

Sequeira, A., Martin, M. V., Rollins, B., Moon, E. A., Bunney, W. E., Macciardi, F., Lupoli, S., Smith, E. N., Kelsoe, J., Magnan, C. N., van Oven, M., Baldi, P., Wallace, D. C. and Vawter, M. P. (2012). "Mitochondrial mutations and polymorphisms in psychiatric disorders." Frontiers in Genetics 3:103.

Seyrantepe, V., Kale, G., Topaloglu, H., Alikasifoglu, A. and Ozguc, M. (1999). "Common deletion of mitochondrial DNA in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers." Brain Dev 21(6):413-415.

Shah, V. O., Scariano, J., Waters, D., Qualls, C., Morgan, M., Pickett, G., Gasparovic, C., Dokladny, K., Moseley, P. and Raj, D. S. (2009). "Mitochondrial DNA deletion and sarcopenia." Genet Med 11(3):147-152.

Shanske, S., Moraes, C. T., Lombes, A., Miranda, A. F., Bonilla, E., Lewis, P., Whelan, M. A., Ellsworth, C. A. and DiMauro, S. (1990). "Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome." Neurology 40(1):24-28.

Shao, J. Y., Gao, H. Y., Li, Y. H., Zhang, Y., Lu, Y. Y. and Zeng, Y. X. (2004). "Quantitative detection of common deletion of mitochondrial DNA in hepatocellular carcinoma and hepatocellular nodular hyperplasia." World J Gastroenterol 10(11):1560-1564.

Shao, J. Y., Li, Y. H., Gao, H. Y., Mai, H. Q., Zhang, Y., Guo, X. and Zeng, Y. X. (2004). "High frequency of common deletion (4981 bp) in mitochondrial DNA in nasopharyngeal carcinoma and its correlation with patient age and clinical stages." Cancer Biol Ther 3(12):1270-1274.

Shao, L., Martin, M. V., Watson, S. J., Schatzberg, A., Akil, H., Myers, R. M., Jones, E. G., Bunney, W. E. and Vawter, M. P. (2008). "Mitochondrial involvement in psychiatric disorders." Ann Med 40(4):281-295.

Shen, J., Wan, J., Huff, C., Fang, S., Lee, J. E. and Zhao, H. (2016). "Mitochondrial DNA 4977-base pair common deletion in blood leukocytes and melanoma risk." Pigment Cell Melanoma Res 29(3):372-378.

Shen, L., Fang, H., Chen, T., He, J., Zhang, M., Wei, X., Xin, Y., Jiang, Y., Ding, Z., Ji, J., Lu, J. and Bai, Y. (2010). "Evaluating mitochondrial DNA in cancer occurrence and development." Ann N Y Acad Sci 1201:26-33.

Shieh, D. B., Chen, C. C., Shih, T. S., Tai, H. M., Wei, Y. H. and Chang, H. Y. (2007). "Mitochondrial DNA alterations in blood of the humans exposed to N,N-dimethylformamide." Chem Biol Interact 165(3):211-219.

Shoffner, J. M., Lott, M. T., Voljavec, A. S., Soueidan, S. A., Costigan, D. A. and Wallace, D. C. (1989). "Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy." Proceedings of the National Academy of Sciences of the United States of America 86(20):7952-7956.

Simonetti, S., Chen, X., DiMauro, S. and Schon, E. A. (1992). "Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR." Biochimica et Biophysica Acta 1180(2):113-122.

Simonsz, H. J., Barlocher, K. and Rotig, A. (1992). "Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion." Documenta Ophthalmologica 82:73-79.

Smith, M. A., Nunomura, A., Zhu, X., Takeda, A. and Perry, G. (2000). "Metabolic, metallic, and mitotic sources of oxidative stress in Alzheimer disease." Antioxid Redox Signal 2(3):413-420.

Sobreira, C., King, M. P., Davidson, M. M., Park, H., Koga, Y. and Miranda, A. F. (1999). "Long-term analysis of differentiation in human myoblasts repopulated with mitochondria harboring mtDNA mutations." Biochemical and Biophysical Research Communications 266(1):179-186.

Soong, N. W., Hinton, D. R., Cortopassi, G. and Arnheim, N. (1992). "Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain." Nature Genetics 2(4):318-323.

Srivastava, S. and Moraes, C. T. (2005). "Double-strand breaks of mouse muscle mtDNA promote large deletions similar to multiple mtDNA deletions in humans." Hum Mol Genet 14(7):893-902.

Storm, T., Rath, S., Mohamed, S. A., Bruse, P., Kowald, A., Oehmichen, M. and Meissner, C. (2002). "Mitotic brain cells are just as prone to mitochondrial deletions as neurons: a large-scale single-cell PCR study of the human caudate nucleus." Exp Gerontol 37(12):1389-1400.

Suganuma, N., Kitagawa, T., Nawa, A. and Tomoda, Y. (1993). "Human ovarian aging and mitochondrial DNA deletion." Hormone Research 39 Suppl 1:16-21.

Suomalainen, A. (1997). "Mitochondrial DNA and disease." Ann Med 29(3):235-246.

Suomalainen, A. and Kaukonen, J. (2001). "Diseases caused by nuclear genes affecting mtDNA stability." Am J Med Genet 106(1):53-61.

Superti-Furga, A., Schoenle, E., Tuchschmid, P., Caduff, R., Sabato, V., DeMattia, D., Gitzelmann, R. and Steinmann, B. (1993). "Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA." European Journal of Pediatrics 152(1):44-50.

Szabolcs, M. J., Seigle, R., Shanske, S., Bonilla, E., DiMauro, S. and D'Agati, V. (1994). "Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy." Kidney Int 45(5):1388-1396.

Taanman, J. W., Burton, M. D., Marusich, M. F., Kennaway, N. G. and Capaldi, R. A. (1996). "Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegia." Biochim Biophys Acta 1315(3):199-207.

Tabaku, M., Legius, E., Robberecht, W., Sciot, R., Fryns, J. P., Cassiman, J. J. and Matthijs, G. (1999). "A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation." Genet Couns 10(3):285-293.

Takai, D., Inoue, K., Shisa, H., Kagawa, Y. and Hayashi, J. (1995). "Age-associated changes of mitochondrial translation and respiratory function in mouse brain." Biochemical and Biophysical Research Communications 217(2):668-674.

Talhar, S. S., Ambulkar, P. S., Sontakke, B. R., Waghmare, P. J., Shende, M. R., Pal, A. K. and Narang, P. (2019). "Oxidative stress and its impact on mitochondrial DNA in pulmonary tuberculosis patients- a pilot study." Indian J Tuberc 66(2):227-233.

Tanaka, M., Sato, W., Ohno, K., Yamamoto, T. and Ozawa, T. (1989). "Direct sequencing of deleted mitochondrial DNA in myopathic patients." Biochemical and Biophysical Research Communications 164:156-163.

Tanhauser, S. M. and Laipis, P. J. (1995). "Multiple deletions are detectable in mitochondrial DNA of aging mice." J Biol Chem 270(42):24769-24775.

Taylor, R. W., Wardell, T. M., Connolly, B. A., Turnbull, D. M. and Lightowlers, R. N. (2001). "Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates." Nucleic Acids Res 29(16):3404-3412.

Tengan, C. H., Gabbai, A. A., Shanske, S., Zeviani, M. and Moraes, C. T. (1997). "Oxidative phosphorylation dysfunction does not increase the rate of accumulation of age-related mtDNA deletions in skeletal muscle." Mutation Research 379(1):1-11.

Thayer, R. E., Wittock, R., Parr, R., Zullo, S. and Birch-Machin, M. A. (2003). "A maternal line study investigating the 4977-bp mitochondrial DNA deletion." Experimental Gerontology 38(5):567-571.

Tian, R., Cui, Z., He, D., Tian, X., Gao, Q., et al. (2019). "Risk stratification of cervical lesions using capture sequencing and machine learning method based on HPV and human integrated genomic profiles." Carcinogenesis 40(10):1220-1228.

Tonska, K., Piekutowska-Abramczuk, D., Kaliszewska, M., Kowalski, P., Tanska, A., Bartnik, E., Pronicka, E. and Krajewska-Walasek, M. (2012). "Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests." Gene 506(1):161-165.

Topaloglu, R., Lebre, A. S., Demirkaya, E., Kuskonmaz, B., Coskun, T., Orhan, D., Gurgey, A. and Gumruk, F. (2008). "Two new cases with Pearson syndrome and review of Hacettepe experience." Turk J Pediatr 50(6):572-576.

Torii, K., Sugiyama, S., Tanaka, M., Takagi, K., Hanaki, Y., Iida, K., Matsuyama, M., Hirabayashi, N., Uno, Y. and Ozawa, T. (1992). "Aging-associated deletions of human diaphragmatic mitochondrial DNA." American Journal of Respiratory Cell and Molecular Biology 6(5):543-549.

Torrell, H., Montana, E., Abasolo, N., Roig, B., Gaviria, A. M., Vilella, E. and Martorell, L. (2013). "Mitochondrial DNA (mtDNA) in brain samples from patients with major psychiatric disorders: gene expression profiles, mtDNA content and presence of the mtDNA common deletion." Am J Med Genet B Neuropsychiatr Genet 162B(2):213-223.

Toth, T., Bokay, J., Szonyi, L., Nagy, B. and Papp, Z. (1998). "Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card." Clin Genet 53(3):210-213.

Trifunov, S., Pyle, A., Valentino, M. L., Liguori, R., Yu-Wai-Man, P., Burte, F., Duff, J., Kleinle, S., Diebold, I., Rugolo, M., Horvath, R. and Carelli, V. (2018). "Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells." Scientific Reports 8(1):11682.

Tsai, H. D., Hsieh, Y. Y., Hsieh, J. N., Chang, C. C., Yang, C. Y., Yang, J. G., Cheng, W. L., Tsai, F. J. and Liu, C. S. (2010). "Mitochondria DNA deletion and copy numbers of cumulus cells associated with in vitro fertilization outcomes." The Journal of Reproductive Medicine 55(11-12):491-497.

Tseng, L. M., Yin, P. H., Chi, C. W., Hsu, C. Y., Wu, C. W., Lee, L. M., Wei, Y. H. and Lee, H. C. (2006). "Mitochondrial DNA mutations and mitochondrial DNA depletion in breast cancer." Genes Chromosomes Cancer 45(7):629-638.

Tseng, L. M., Yin, P. H., Tsai, Y. F., Chi, C. W., Wu, C. W., Lee, L. M. and Lee, H. C. (2009). "Association between mitochondrial DNA 4,977 bp deletion and NAD(P)H:quinone oxidoreductase 1 C609T polymorphism in human breast tissues." Oncol Rep 21(5):1169-1174.

Tulinius, M. H., Holme, E., Kristiansson, B., Larsson, N. G. and Oldfors, A. (1991). "Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes." J Pediatr 119(2):251-259.

Ueda, N., Oshima, T., Ikeda, K., Abe, K., Aoki, M. and Takasaka, T. (1998). "Mitochondrial DNA deletion is a predisposing cause for sensorineural hearing loss." Laryngoscope 108(4 Pt 1):580-584.

Ueta, E., Sasabe, E., Yang, Z., Osaki, T. and Yamamoto, T. (2008). "Enhancement of apoptotic damage of squamous cell carcinoma cells by inhibition of the mitochondrial DNA repairing system." Cancer Science 99(11):2230-2237.

Var, S. R., Day, T. R., Vitomirov, A., Smith, D. M., Soontornniyomkij, V., Moore, D. J., Achim, C. L., Mehta, S. R. and Perez-Santiago, J. (2016). "Mitochondrial injury and cognitive function in HIV infection and methamphetamine use." AIDS 30(6):839-848.

Varanasi, S. S., Francis, R. M., Berger, C. E., Papiha, S. S. and Datta, H. K. (1999). "Mitochondrial DNA deletion associated oxidative stress and severe male osteoporosis." Osteoporos Int 10(2):143-149.

Varga, N. A., Pentelenyi, K., Balicza, P., Gezsi, A., Remenyi, V., Harsfalvi, V., Bencsik, R., Illes, A., Prekop, C. and Molnar, M. J. (2018). "Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion." Behav Brain Funct 14(1):4.

Vazquez-Acevedo, M., Coria, R., Gonzalez-Astiazaran, A., Medina-Crespo, V., Ridaura-Sanz, C. and Gonzalez-Halphen, D. (1995). "Characterization of a 5025 base pair mitochondrial DNA deletion in Kearns-Sayre syndrome." Biochimica et Biophysica Acta 1271(2-3):363-368.

Vazquez-Acevedo, M., Vazquez-Memije, M. E., Mutchinick, O. M., Morales, J. J., Garcia-Ramos, G. and Gonzalez-Halphen, D. (2002). "A case of Kearns-Sayre syndrome with the 4,977-bp common deletion associated with a novel 7,704-bp deletion." Neurological Sciences 23(5):247-250.

Vecchiet, L., Montanari, G., Pizzigallo, E., Iezzi, S., de Bigontina, P., Dragani, L., Vecchiet, J. and Giamberardino, M. A. (1996). "Sensory characterization of somatic parietal tissues in humans with chronic fatigue syndrome." Neurosci Lett 208(2):117-120.

Villa, A., Viera, M. H., Amini, S., Huo, R., Perez, O., Ruiz, P., Amador, A., Elgart, G. and Berman, B. (2010). "Decrease of ultraviolet A light-induced "common deletion" in healthy volunteers after oral Polypodium leucotomos extract supplement in a randomized clinical trial." J Am Acad Dermatol 62(3):511-513.

Vivekanandan, P., Daniel, H., Yeh, M. M. and Torbenson, M. (2010). "Mitochondrial mutations in hepatocellular carcinomas and fibrolamellar carcinomas." Mod Pathol 23(6):790-798.

von Wurmb-Schwark, N., Cavelier, L. and Cortopassi, G. A. (2006). "A low dose of ethidium bromide leads to an increase of total mitochondrial DNA while higher concentrations induce the mtDNA 4997 deletion in a human neuronal cell line." Mutat Res 596(1-2):57-63.

von Wurmb-Schwark, N., Higuchi, R., Fenech, A. P., Elfstroem, C., Meissner, C., Oehmichen, M. and Cortopassi, G. A. (2002). "Quantification of human mitochondrial DNA in a real time PCR." Forensic Sci Int 126(1):34-39.

von Wurmb-Schwark, N., Schwark, T., Caliebe, A., Drenske, C., Nikolaus, S., Schreiber, S. and Nebel, A. (2010). "Low level of the mtDNA(4977) deletion in blood of exceptionally old individuals." Mech Ageing Dev 131(3):179-184.

Vu, T. H., Tanji, K., Pallotti, F., Golzi, V., Hirano, M., DiMauro, S. and Bonilla, E. (2000). "Analysis of mtDNA deletions in muscle by in situ hybridization." Muscle Nerve 23(1):80-85.

Wallace, D. C. and Chalkia, D. (2013). "Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease." Cold Spring Harbor. Perspectives in Biology 5(11):a021220.

Wallace, D. C., Lott, M. T., Shoffner, J. M. and Ballinger, S. (1994). "Mitochondrial DNA mutations in epilepsy and neurological disease." Epilepsia 35(Suppl 1):S43-S50.

Wang, B., Qiao, L., Wang, Y., Zeng, J., Chen, D., Guo, H. and Zhang, Y. (2018). "Mitochondrial DNA Dloop lesions with the enhancement of DNA repair contribute to gastrointestinal cancer progression." Oncol Rep 40(6):3694-3704.

Wang, H., Fliegel, L., Cass, C. E., Penn, A. M. W., Michalak, M., Weiner, J. H. and Lemire, B. D. (1994). "Quantification of mitochondrial DNA in heteroplasmic fibroblasts with competitive PCR." Biotechniques 17(1):76-78.

Wang, L., Kuwahara, Y., Li, L., Baba, T., Shin, R. W., Ohkubo, Y., Ono, K. and Fukumoto, M. (2007). "Analysis of Common Deletion (CD) and a novel deletion of mitochondrial DNA induced by ionizing radiation." Int J Radiat Biol 83(7):433-442.

Wang, P., Liu, Y. L., Han, L., Zhao, F. L., Guo, F., Wang, X. A. and Lv, Y. M. (2013). "Mitochondria DNA 4977 bp common deletion in peripheral whole blood from healthy donors." Biomed Environ Sci 26(12):990-993.

Wang, Z. X., Luan, X. H., Zhang, Y., Yang, Y. L., Qi, Y., Bu, D. F. and Yuan, Y. (2008). "[Mitochondrial DNA mutation analysis in 97 Chinese patients with mitochondrial cephalomyopathy]." Zhonghua Yi Xue Za Zhi 88(46):3254-3256.

Wei, J., Gao, D. F., Wang, H., Yan, R., Liu, Z. Q., Yuan, Z. Y., Liu, J. and Chen, M. X. (2014). "Impairment of myocardial mitochondria in viral myocardial disease and its reflective window in peripheral cells." PLoS One 9(12):e116239.

Wei, Y. H. (1992). "Mitochondrial DNA alterations as ageing-associated molecular events." Mutation Research 275(3-6):145-155.

Wen, Q., Hu, Y., Ji, F. and Qian, G. (2011). "Mitochondrial DNA alterations of peripheral lymphocytes in acute lymphoblastic leukemia patients undergoing total body irradiation therapy." Radiat Oncol 6:133.

Wheelhouse, N. M., Lai, P. B., Wigmore, S. J., Ross, J. A. and Harrison, D. J. (2005). "Mitochondrial D-loop mutations and deletion profiles of cancerous and noncancerous liver tissue in hepatitis B virus-infected liver." Br J Cancer 92(7):1268-1272.

Williams, S. L., Mash, D. C., Zuchner, S. and Moraes, C. T. (2013). "Somatic mtDNA mutation spectra in the aging human putamen." PLoS Genetics 9(12):e1003990.

Wong, L. J. (2001). "Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation." Genet Med 3(6):399-404.

Wong, L. J. (2010). "Molecular genetics of mitochondrial disorders." Dev Disabil Res Rev 16(2):154-162.

Wu, R., Tan, Q., Niu, K., Zhu, Y., Wei, D., Zhao, Y. and Fang, H. (2018). "MMS19 localizes to mitochondria and protects the mitochondrial genome from oxidative damage." Biochem Cell Biol 96(1):44-49.

Yamadori, I., Kurose, A., Kobayashi, S., Ohmori, M. and Imai, T. (1992). "Brain lesions of the Leigh-type distribution associated with a mitochondriopathy of Pearson's syndrome: light and electron microscopic study." Acta Neuropathol 84(3):337-341.

Yamagata, K., Muro, K., Usui, J., Hagiwara, M., Kai, H., Arakawa, Y., Shimizu, Y., Tomida, C., Hirayama, K., Kobayashi, M. and Koyama, A. (2002). "Mitochondrial DNA mutations in focal segmental glomerulosclerosis lesions." Journal of the American Society of Nephrology 13(7):1816-1823.

Yamamoto, H., Tanaka, M., Katayama, M., Obayashi, T., Nimura, Y. and Ozawa, T. (1992). "Significant existence of deleted mitochondrial DNA in cirrhotic liver surrounding hepatic tumor." Biochemical and Biophysical Research Communications 182(2):913-920.

Yamashita, S., Nishino, I., Nonaka, I. and Goto, Y. (2008). "Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions." Journal of Human Genetics 53(7):598-606.

Yang, J. H., Lee, H. C., Lin, K. J. and Wei, Y. H. (1994). "A specific 4977-bp deletion of mitochondrial DNA in human ageing skin." Arch Dermatol Res 286(7):386-390.

Ye, C., Shu, X. O., Wen, W., Pierce, L., Courtney, R., Gao, Y. T., Zheng, W. and Cai, Q. (2008). "Quantitative analysis of mitochondrial DNA 4977-bp deletion in sporadic breast cancer and benign breast diseases." Breast Cancer Research and Treatment 108(3):427-434.

Yen, T. C., King, K. L., Lee, H. C., Yeh, S. H. and Wei, Y. H. (1994). "Age-dependent increase of mitochondrial DNA deletions together with lipid peroxides and superoxide dismutase in human liver mitochondria." Free Radical Biology and Medicine 16(2):207-214.

Yen, T. C., Pang, C. Y., Hsieh, R. H., Su, C. H., King, K. L. and Wei, Y. H. (1992). "Age-dependent 6kb deletion in human liver mitochondrial DNA." Biochemistry International 26(3):457-468.

Yen, T. C., Su, J. H., King, K. L. and Wei, Y. H. (1991). "Ageing-associated 5 kb deletion in human liver mitochondrial DNA." Biochemical and Biophysical Research Communications 178(1):124-131.

Yusoff, A. A. M., Abdullah, W. S. W., Khair, S. and Radzak, S. M. A. (2019). "A comprehensive overview of mitochondrial DNA 4977-bp deletion in cancer studies." Oncol Rev 13(1):409.

Zabihi Diba, L., Mohaddes Ardebili, S. M., Gharesouran, J. and Houshmand, M. (2016). "Age-related decrease in mtDNA content as a consequence of mtDNA 4977 bp deletion." Mitochondrial DNA A DNA Mapp Seq Anal 27(4):3008-3012.

Zeng, A., Liu, X., Shen, L., Li, W., Ding, Z., Bai, Y. and Lu, J. (2012). "Analysis of mitochondrial DNA variations in a Chinese family with spinocerebellar ataxia." J Clin Neurosci 19(1):60-64.

Zeng, Z., Zhang, Z., Yu, H., Corbley, M. J., Tang, Z. and Tong, T. (1999). "Mitochondrial DNA deletions are associated with ischemia and aging in Balb/c mouse brain." J Cell Biochem 73(4):545-553.

Zeviani, M., Moraes, C. T., DiMauro, S., Nakase, H., Bonilla, E., Nakase, H., Bonilla, E., Schon, E. A. and Rowland, L. P. (1988). "Deletions of mitochondrial DNA in Kearns-Sayre syndrome." Neurology 38(9):1339-1346.

Zhang, B., Ye, S., Sayer, A. A., Hammans, S. R., Adio, S., Hinks, L. J., Smythe, P. J., Groot, D., Cooper, C. and Day, I. N. (2003). "A study of mitochondrial DNA mutations in peripheral lymphocytes in an aging cohort." Biochemical Society Transactions 31(2):444-446.

Zhang, C., Baumer, A., Mackay, I. R., Linnane, A. W. and Nagley, P. (1995). "Unusual pattern of mitochondrial DNA deletions in skeletal muscle of an adult human with chronic fatigue syndrome." Human Molecular Genetics 4(4):751-754.

Zhang, C., Baumer, A., Maxwell, R. J., Linnane, A. W. and Nagley, P. (1992). "Multiple mitochondrial DNA deletions in an elderly human individual." FEBS Lett 297(1-2):34-38.

Zhang, C., Liu, V. W. and Nagley, P. (1997). "Gross mosaic pattern of mitochondrial DNA deletions in skeletal muscle tissues of an individual adult human subject." Biochemical and Biophysical Research Communications 233(1):56-60.

Zhang, J., Montine, T. J., Smith, M. A., Siedlak, S. L., Gu, G., Robertson, D. and Perry, G. (2002). "The mitochondrial common deletion in Parkinson's disease and related movement disorders." Parkinsonism Relat Disord 8(3):165-170.

Zhang, S. B., Maguire, D., Zhang, M., Zhang, Z., Zhang, A., Yin, L., Zhang, L., Huang, L., Vidyasagar, S., Swarts, S. and Okunieff, P. (2013). "The murine common deletion: mitochondrial DNA 3,860-bp deletion after irradiation." Radiat Res 180(4):407-413.

Zhang, S., Wen, G., Huang, S. X., Wang, J., Tong, J. and Hei, T. K. (2013). "Mitochondrial alteration in malignantly transformed human small airway epithelial cells induced by alpha-particles." Int J Cancer 132(1):19-28.

Zhang, Z., Burger, K., Hellwig, S. and Bergemann, J. (2008). "A UVB fingerprint mutation on the p53 tumor suppressor gene decreases in vitro." Cells Tissues Organs 188(3):280-286.

Zhao, D., Hong, D., Zhang, W., Yao, S., Qi, X., Lv, H., Zheng, R., Feng, L., Huang, Y., Yuan, Y. and Wang, Z. (2011). "Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes." J Hum Genet 56(11):759-764.

Zhao, X. Y., Sun, J. L., Hu, Y. J., Yang, Y., Zhang, W. J., Hu, Y., Li, J., Sun, Y., Zhong, Y., Peng, W., Zhang, H. L. and Kong, W. J. (2013). "The effect of overexpression of PGC-1alpha on the mtDNA4834 common deletion in a rat cochlear marginal cell senescence model." Hear Res 296:13-24.

Zheng, S., Qian, P., Li, F., Qian, G., Wang, C., Wu, G., Li, Q., Chen, Y., Li, J., Li, H., He, B. and Ji, F. (2012). "Association of mitochondrial DNA variations with lung cancer risk in a Han Chinese population from southwestern China." PLoS One 7(2):e31322.

Zheng, Y., Luo, X., Zhu, J., Zhang, X., Zhu, Y., Cheng, H., Xia, Z., Su, N., Zhang, N. and Zhou, J. (2012). "Mitochondrial DNA 4977 bp deletion is a common phenomenon in hair and increases with age." Bosn J Basic Med Sci 12(3):187-192.

Zhong, Y., Hu, Y. J., Chen, B., Peng, W., Sun, Y., Yang, Y., Zhao, X. Y., Fan, G. R., Huang, X. and Kong, W. J. (2011). "Mitochondrial transcription factor A overexpression and base excision repair deficiency in the inner ear of rats with D-galactose-induced aging." FEBS J 278(14):2500-2510.

Zhong, Y., Hu, Y. J., Yang, Y., Peng, W., Sun, Y., Chen, B., Huang, X. and Kong, W. J. (2011). "Contribution of common deletion to total deletion burden in mitochondrial DNA from inner ear of d-galactose-induced aging rats." Mutat Res 712(1-2):11-19.

Zhu, Y. H., Zhang, Q. J. and Wang, Q. J. (2019). "[Mitochondrial DNA deletion syndrome: a case report and literature review]." Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 33(9):808-813.

Zierz, C. M., Joshi, P. R. and Zierz, S. (2015). "Frequencies of myohistological mitochondrial changes in patients with mitochondrial DNA deletions and the common m.3243A>G point mutation." Neuropathology 35(2):130-136.

Zoccolella, S., Torraco, A., Amati, A., Lamberti, P., Serlenga, L., Papa, S. and Petruzzella, V. (2006). "Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA." Funct Neurol 21(1):39-41.

Zsurka, G., Kraytsberg, Y., Kudina, T., Kornblum, C., Elger, C. E., Khrapko, K. and Kunz, W. S. (2005). "Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy." Nat Genet 37(8):873-877.

Zuffa, E., Mancini, M., Brusa, G., Pagnotta, E., Hattinger, C. M., Serra, M., Remondini, D., Castellani, G., Corrado, P., Barbieri, E. and Santucci, M. A. (2008). "P53 oncosuppressor influences selection of genomic imbalances in response to ionizing radiations in human osteosarcoma cell line SAOS-2." Int J Radiat Biol 84(7):591-601.

Zullo, S. J. (2002). "In situ PCR of the common human mtDNA deletion. Is it related to apoptosis?" Methods Mol Biol 197:119-128.

Zullo, S. J., Cerritos, A. and Merril, C. R. (1999). "Possible relationship between conditions associated with chronic hypoxia and brain mitochondrial DNA deletions; reduction of genomic 8-hydroxyguanine levels in human brain tissues containing elevated levels of the human mitochondrial DNA4977 deletion." Archives of Biochemistry and Biophysics 367(1):140-142.

Zupanc, M. L., Moraes, C. T., Shanske, S., Langman, C. B., Ciafaloni, E. and DiMauro, S. (1991). "Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes." Annals of Neurology 29(6):680-683.