References
- Agaronyan K, Morozov YI, Anikin M, Temiakov D. Mitochondrial biology. Replication-transcription switch in human mitochondria. Science 347, 548–551, 2015.10.1126/science.aaa0986467768725635099
- Al-Gadi IS, Haas RH, Falk MJ, Goldstein A, McCormack SE. Endocrine Disorders in Primary Mitochondrial Disease. J Endocr Soc 2, 361–373, 2018.10.1210/js.2017-00434586553729594260
- Alexeyev MF, Venediktova N, Pastukh V, Shokolenko I, Bonilla G, Wilson GL. Selective elimination of mutant mitochondrial genomes as therapeutic strategy for the treatment of NARP and MILS syndromes. Gene Ther 15, 516–523, 2008.10.1038/gt.2008.1118256697
- Ardissone A, Bruno C, Diodato D, Donati A, Ghezzi D, Lamantea E, Lamperti C, Mancuso M, Martinelli D, Primiano G, Procopio E, Rubegni A, Santorelli F, Schiaffino MC, Servidei S, Tubili F, Bertini E, Moroni I. Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases. Orphanet J Rare Dis 16, 413, 2021.10.1186/s13023-021-02029-3850164434627336
- Bailey LJ, Doherty AJ. Mitochondrial DNA replication: a PrimPol perspective. Biochem Soc Trans 45, 513–529, 2017.10.1042/BST20160162539049628408491
- Bakare AB, Lesnefsky EJ, Iyer S. Leigh Syndrome: A tale of two genomes. Front Physiol 12, 693734, 2021.10.3389/fphys.2021.693734838544534456746
- Barchiesi A, Vascotto C. Transcription, processing, and decay of mitochondrial RNA in health and disease. Int J Mol Sci 20, 2221, 2019.10.3390/ijms20092221654060931064115
- Bayrhuber M, Meins T, Habeck M, Becker S, Giller K, Villinger S, Vonrhein C, Griesinger C, Zweckstetter M, Zeth K. Structure of the human voltage–dependent anion channel. Proc Natl Acad Sci U S A 105, 15370–15375, 2008.10.1073/pnas.0808115105255702618832158
- Bertram R, Gram Pedersen M, Luciani DS, Sherman A. A simplified model for mitochondrial ATP production. J Theor Biol 243, 575–586, 2006.10.1016/j.jtbi.2006.07.01916945388
- Bras M, Queenan B, Susin SA. Programmed cell death via mitochondria: different modes of dying. Biochemistry (Mosc) 70, 231–239, 2005.10.1007/s10541-005-0105-415807663
- Brown WM, Shine J, Goodman HM. Human mitochondrial DNA: analysis of 7S DNA from the origin of replication. Proc Natl Acad Sci U S A 75, 735–739, 1978.10.1073/pnas.75.2.735411331273237
- Brown TA, Cecconi C, Tkachuk AN, Bustamante C, Clayton DA. Replication of mitochondrial DNA occurs by strand displacement with alternative light-strand origins, not via a strand-coupled mechanism. Genes Dev 19, 2466–2476, 2005.10.1101/gad.1352105125740116230534
- Bruser C, Keller-Findeisen J, Jakobs S. The TFAM-to-mtDNA ratio defines inner-cellular nucleoid populations with distinct activity levels. Cell Rep 37, 110000, 2021.10.1016/j.celrep.2021.11000034818548
- Bursle C, Riney K, Stringer J, Moore D, Gole G, Kearns LS, Mackey DA, Coman D. Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis. JIMD Reports 42, 53–60, 2017.10.1007/8904_2017_79622639829249004
- Cagalinec M, Liiv M, Hodurova Z, Hickey MA, Vaarmann A, Mandel M, Zeb A, Choubey V, Kuum M, Safiulina D, Vasar E, Veksler V, Kaasik A. Role of mitochondrial dynamics in neuronal development: mechanism for Wolfram syndrome. PLoS Biol 14, e1002511, 2016.10.1371/journal.pbio.1002511495105327434582
- Colclough K, Ellard S, Hattersley A, Patel K. Syndromic monogenic diabetes genes should be tested in patients with a clinical suspicion of maturity-onset diabetes of the young. Diabetes 71, 530–537, 2022.10.2337/db21-0517761242034789499
- Craven L, Alston CL, Taylor RW, Turnbull DM. Recent advances in mitochondrial disease. Annu Rev Genomics Hum Genet 18, 257–275, 2017.10.1146/annurev-genom-091416-03542628415858
- D’Souza AR, Minczuk M. Mitochondrial transcription and translation: overview. Essays Biochem 62, 309–320, 2018.10.1042/EBC20170102605671930030363
- Danis D, Brennerova K, Skopkova M, Kurdiova T, Ukropec J, Stanik J, Kolnikova M, Gasperikova D. Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients. Endocr Regul 52, 110–118, 2018.10.2478/enr-2018-001329715184
- Davis RL, Liang C, Sue CM. A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases. Neurology 86, 2010–2015, 2016.10.1212/WNL.0000000000002705488712027164684
- Dimitrov B, Molema F, Williams M, Schmiesing J, Muhlhausen C, Baumgartner MR, Schumann A, Kolker S. Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise. J Inherit Metab Dis 44, 9–21, 2021.10.1002/jimd.1225432412122
- El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab 116, 4–12, 2015.10.1016/j.ymgme.2015.06.00426095523
- Falkenberg M. Mitochondrial DNA replication in mammalian cells: overview of the pathway. Essays Biochem 62, 287–296, 2018.10.1042/EBC20170100605671429880722
- Falkenberg M, Gustafsson CM. Mammalian mitochondrial DNA replication and mechanisms of deletion formation. Crit Rev Biochem Mol Biol 55, 509–524, 2020.10.1080/10409238.2020.181868432972254
- Fang C, Wei X, Wei Y. Mitochondrial DNA in the regulation of innate immune responses. Protein Cell 7, 11–16, 2016.10.1007/s13238-015-0222-9470715726498951
- Farruggia P, Marco FD, Dufour C. Pearson syndrome. Expert Rev Hematol 11, 239–246, 2018.10.1080/17474086.2018.142645429337599
- Finkel T, Hwang PM. The Krebs cycle meets the cell cycle: Mitochondria and the G1–S transition. Proc Natl Acad Sci U S A 106, 11825–11826, 2009.10.1073/pnas.0906430106271550819617546
- Finsterer J, Zarrouk-Mahjoub S. Leber’s hereditary optic neuropathy is multiorgan not mono-organ. Clin Ophthalmol 10, 2187–2190, 2016.10.2147/OPTH.S120197509859627843288
- Finsterer J, Zarrouk-Mahjoub S, Shoffner JM. MERRF Classification: Implications for Diagnosis and Clinical Trials. Pediatr Neurol 80, 8–23, 2018.10.1016/j.pediatrneurol.2017.12.00529449072
- Finsterer J. Photosensitive epilepsy and polycystic ovary syndrome as manifestations of MERRF. Case Rep Neurol Med 2020, 8876272, 2020.10.1155/2020/8876272754249933062354
- Finsterer J, Zarrouk-Mahjoub S. The heart in m.3243A>G carriers. Herz 45, 356–361, 2020.
- Gerards M, Sallevelt SCEH, Smeets HJM. Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options. Mol Genet Metab 117, 300–312, 2016.10.1016/j.ymgme.2015.12.004
- Giles RE, Blanc H, Cann HM, Wallace DC. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A 77, 6715–6719, 1980.10.1073/pnas.77.11.6715
- Gillis LA, Sokol RJ. Gastrointestinal manifestations of mitochondrial disease. Gastroenterol Clin North Am 32, 789–817, 2003.10.1016/S0889-8553(03)00052-9
- Goldstein A, Falk MJ. Mitochondrial DNA Deletion Syndromes. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
- Grady JP, Pickett SJ, Ng YS, Alston CL, Blakely EL, Hardy SA, Feeney CL, Bright AA, Schaefer AM, Gorman GS, McNally RJ, Taylor RW, Turnbull DM, McFarland R. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. EMBO Mol Med 10, e8262, 2018.
- Hao X, Bu W, Lv G, Xu L, Hou D, Wang J, Liu X, Yang T, Zhang X, Liu Q, Gong Y, Shao C. Disrupted mitochondrial homeostasis coupled with mitotic arrest generates antineoplastic oxidative stress. Oncogene 41, 427–443, 2022.10.1038/s41388-021-02105-9875553834773075
- Hayashi Y, Iwasaki Y, Yoshikura N, Yamada M, Kimura A, Inuzuka T, Miyahara H, Goto Y, Nishino I, Yoshida M, Shimohata T. Clinicopathological findings of a mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes/Leigh syndrome overlap patient with a novel m.3482A>G mutation in MT-ND1. Neuropathology 41, 84–90, 2021.
- He J, Mao C-C, Reyes A, Sembongi H, Di Re M, Granycome C, Clippingdale AB, Fearnley IM, Harbour M, Robinson AJ, Reichelt S, Spelbrink JN, Walker JE, Holt IJ. The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization. J Cell Biol 176, 141–146, 2007.10.1083/jcb.200609158206393317210950
- Hirano M. Weighing in on Leber hereditary optic neuropathy: effects of mitochondrial mass. Brain 137, 308–309, 2014.10.1093/brain/awu005499081624501072
- Hoffmann A, Spengler D. The Mitochondrion as potential interface in early-life stress brain programming. Front Behav Neurosci 12, 306, 2018.10.3389/fnbeh.2018.00306629145030574076
- Holmes JB, Akman G, Wood SR, Sakhuja K, Cerritelli SM, Moss C, Bowmaker MR, Jacobs HT, Crouch RJ, Holt IJ. Primer retention owing to the absence of RNase H1 is catastrophic for mitochondrial DNA replication. Proc Natl Acad Sci U S A 112, 9334–9339, 2015.10.1073/pnas.1503653112452276626162680
- Houten SM, Violante S, Ventura FV, Wanders RJA. The Biochemistry and physiology of mitochondrial fatty acid β-oxidation and its genetic disorders. Annu Rev Physiol 78, 23–44, 2016.10.1146/annurev-physiol-021115-10504526474213
- Chang X, Wu Y, Zhou J, Meng H, Zhang W, Guo J. A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations. Medicine 99, e18634, 2020.10.1097/MD.0000000000018634700463632000367
- Chinnery PF. Mitochondrial Disorders Overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
- Inatomi T, Matsuda S, Ishiuchi T, Do Y, Nakayama M, Abe S, Kasho K, Wanrooij S, Nakada K, Ichiyanagi K, Sasaki H, Yasukawa T, Kang D. TFB2M and POLRMT are essential for mammalian mitochondrial DNA replication. Biochim Biophys Acta Mol Cell Res 1869, 119167, 2022.10.1016/j.bbamcr.2021.11916734744028
- Jankauskaite E, Bartnik E, Kodron A. Investigating Leber’s hereditary optic neuropathy: Cell models and future perspectives. Mitochondrion 32, 19–26, 2017.10.1016/j.mito.2016.11.00627847334
- Kanungo S, Morton J, Neelakantan M, Ching K, Saeedian J, Goldstein A. Mitochondrial disorders. Ann Transl Med 6, 475, 2018.10.21037/atm.2018.12.13633136030740406
- Khan NA, Govindaraj P, Meena AK, Thangaraj K. Mitochondrial disorders: challenges in diagnosis & treatment. Indian J Med Res 141, 13–26, 2015.10.4103/0971-5916.154489440593425857492
- Khrapko K. Two ways to make an mtDNA bottleneck. Nat Genet 40, 134–135, 2008.10.1038/ng0208-134371727018227871
- Koenig MK. Presentation and diagnosis of mitochondrial disorders in children. Pediatr Neurol 38, 305–313, 2008.10.1016/j.pediatrneurol.2007.12.001309943218410845
- Korhonen JA, Pande V, Holmlund T, Farge G, Pham XH, Nilsson L, Falkenberg M. Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia. J Mol Biol 377, 691–705, 2008.10.1016/j.jmb.2008.01.03518279890
- Kornblum C, Nicholls TJ, Haack TB, Scholer S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multi-systemic mitochondrial disease. Nat Genet 45, 214–219, 2013.10.1038/ng.2501367884323313956
- La Morgia C, Maresca A, Amore G, Gramegna LL, Carbonelli M, Scimonelli E, Danese A, Patergnani S, Caporali L, Tagliavini F, Del Dotto V, Capristo M, Sadun F, Barboni P, Savini G, Evangelisti S, Bianchini C, Valentino ML, Liguori R, Tonon C, Giorgi C, Pinton P, Lodi R, Carelli V. Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome. Sci Rep 10, 4785, 2020.10.1038/s41598-020-61735-3707586732179840
- Lee JS, Yoo T, Lee M, Lee Y, Jeon E, Kim SY, Lim BC, Kim KJ, Choi M, Chae J-H. Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes. Clin Genet 97, 586–594, 2020.10.1111/cge.1371332020600
- Lim AZ, Ng YS, Blain A, Jiminez-Moreno C, Alston CL, Nesbitt V, Simmons L, Santra S, Wassmer E, Blakely EL, Turnbull DM, Taylor RW, Gorman GS, McFarland R. Natural History of Leigh Syndrome: A Study of Disease Burden and Progression. Ann Neurol 91, 117–130, 2022.10.1002/ana.2626034716721
- Litonin D, Sologub M, Shi Y, Savkina M, Anikin M, Falkenberg M, Gustafsson CM, Temiakov D. Human Mitochondrial Transcription Revisited. J Biol Chem 285, 18129–18133, 2010.10.1074/jbc.C110.128918288173620410300
- Lopez Sanchez MIG, Kearns LS, Staffieri SE, Clarke L, McGuinness MB, Meteoukki W, Samuel S, Ruddle JB, Chen C, Fraser CL, Harrison J, Hewitt AW, Howell N, Mackey DA. Establishing risk of vision loss in Leber hereditary optic neuropathy. Am J Hum Genet 108, 2159–2170, 2021.10.1016/j.ajhg.2021.09.015859592934670133
- Lorenzoni PJ, Werneck LC, Kay CSK, Silvado CES, Scola RH, Lorenzoni PJ, Werneck LC, Kay CSK, Silvado CES, Scola RH. When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis? Arq Neuropsiquiatr 73, 959–967, 2015.10.1590/0004-282X2015015426517220
- Luongo TS, Lambert JP, Gross P, Nwokedi M, Lombardi AA, Shanmughapriya S, Carpenter AC, Kolmetzky D, Gao E, van Berlo JH, Tsai EJ, Molkentin JD, Chen X, Madesh M, Houser SR, Elrod JW. The mitochondrial Na(+)/ Ca(2+) exchanger is essential for Ca(2+) homeostasis and viability. Nature 545, 93–97, 2017.10.1038/nature22082573124528445457
- Macao B, Uhler JP, Siibak T, Zhu X, Shi Y, Sheng W, Olsson M, Stewart JB, Gustafsson CM, Falkenberg M. The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication. Nat Commun 6, 7303, 2015.10.1038/ncomms8303455730426095671
- Manoli I, Sysol JR, Epping MW, Li L, Wang C, Sloan JL, Pass A, Gagne J, Ktena YP, Li L, Trivedi NS, Ouattara B, Zerfas PM, Hoffmann V, Abu-Asab M, Tsokos MG, Kleiner DE, Garone C, Cusmano-Ozog K, Enns GM, Vernon HJ, Andersson HC, Grunewald S, Elkahloun AG, Girard CL, Schnermann J, DiMauro S, Andres-Mateos E, Vandenberghe LH, Chandler RJ, Venditti CP. FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. JCI Insight 3, e124351, 2018.10.1172/jci.insight.124351632803030518688
- Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W. Spectrum of combined respiratory chain defects. J Inherit Metab Dis 38, 629–640, 2015.10.1007/s10545-015-9831-y449385425778941
- McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AaM, Foster SM, Tuppen HaL, Ramesh V, Dorman PJ, Turn-bull DM, Taylor RW. Homoplasmy, heteroplasmy, and mitochondrial dystonia. Neurology 69, 911–916, 2007.10.1212/01.wnl.0000267843.10977.4a17724295
- Mingroni-Netto RC. The Human Mitochondrial DNA. IN Human Genome Structure, Function and Clinical Considerations. LA Hadad, ed (Cham:Springer International Publishing), 301–328, 2021.10.1007/978-3-030-73151-9_10
- MITOMAP. A Human Mitochondrial Genome Database. http://www.mitomap.org. 2019.
- Moraes TF, Reithmeier RAF. Membrane transport metabolons. Biochim Biophys Acta 1818, 2687–2706, 2012.10.1016/j.bbamem.2012.06.00722705263
- Mukherjee I, Ghosh M, Meinecke M. MICOS and the mitochondrial inner membrane morphology - when things get out of shape. FEBS Lett 595, 1159–1183, 2021.10.1002/1873-3468.1408933837538
- Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS. MT-ND5 mutation exhibits highly variable neurological manifestations at low mutant load. EBioMedicine 30, 86–93, 2018.10.1016/j.ebiom.2018.02.010595221529506874
- Ngo HB, Lovely GA, Phillips R, Chan DC. Distinct structural features of TFAM drive mitochondrial DNA packaging versus transcriptional activation. Nat Commun 5, 3077, 2014.10.1038/ncomms4077393601424435062
- Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson NG, Larsson E, Falkenberg M, Taylor RW, Griffith JD, Gustafsson CM. Topoisomerase 3alpha is required for decatenation and segregation of human mtDNA. Mol Cell 69, 9–23 e26, 2018.10.1016/j.molcel.2017.11.033593512029290614
- Nunnari J, Suomalainen A. Mitochondria: in sickness and in health. Cell 148, 1145–1159, 2012.10.1016/j.cell.2012.02.035538152422424226
- Ota A, Ishihara T, Ishihara N. Mitochondrial nucleoid morphology and respiratory function are altered in Drp1-deficient HeLa cells. J Biochem 167, 287–294, 2020.10.1093/jb/mvz11231873747
- Peoples JN, Ghazal N, Duong DM, Hardin KR, Manning JR, Seyfried NT, Faundez V, Kwong JQ. Loss of the mitochondrial phosphate carrier SLC25A3 induces remodeling of the cardiac mitochondrial protein acylome. Am J Physiol Cell Physiol 321, C519–C534, 2021.10.1152/ajpcell.00156.2021846181534319827
- Pickett SJ, Grady JP, Ng YS, Gorman GS, Schaefer AM, Wilson IJ, Cordell HJ, Turnbull DM, Taylor RW, McFarland R. Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors. Ann Clin Transl Neurol 5, 333–345, 2018.
- Porter RK, Brand MD. Mitochondrial proton conductance and H+/O ratio are independent of electron transport rate in isolated hepatocytes. Biochem J 310, 379–382, 1995.10.1042/bj310037911359057654171
- Posse V, Al-Behadili A, Uhler JP, Clausen AR, Reyes A, Zeviani M, Falkenberg M, Gustafsson CM. RNase H1 directs origin-specific initiation of DNA replication in human mitochondria. PLoS Genet 15, e1007781, 2019.10.1371/journal.pgen.1007781631778330605451
- Poulton J, Luan Ja, Macaulay V, Hennings S, Mitchell J, Wareham NJ. Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Hum Mol Genet 11, 1581–1583, 2002.10.1093/hmg/11.13.158112045211
- Ramachandran A, Basu U, Sultana S, Nandakumar D, Patel SS. Human mitochondrial transcription factors TFAM and TFB2M work synergistically in promoter melting during transcription initiation. Nucleic Acids Res 45, 861–874, 2017.10.1093/nar/gkw1157531476727903899
- Rath S, Sharma R, Gupta R, Ast T, Chan C, Durham TJ, Goodman RP, Grabarek Z, Haas ME, Hung WHW, Joshi PR, Jourdain AA, Kim SH, Kotrys AV, Lam SS, McCoy JG, Meisel JD, Miranda M, Panda A, Patgiri A, Rogers R, Sadre S, Shah H, Skinner OS, To TL, Walker MA, Wang H, Ward PS, Wengrod J, Yuan CC, Calvo SE, Mootha VK. MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations. Nucleic Acids Res 49, D1541–D1547, 2021.10.1093/nar/gkaa1011777894433174596
- Shi Y, Posse V, Zhu X, Hyvarinen AK, Jacobs HT, Falkenberg M, Gustafsson CM. Mitochondrial transcription termination factor 1 directs polar replication fork pausing. Nucleic Acids Res 44, 5732–5742, 2016.10.1093/nar/gkw302493732027112570
- Shi Y, Chen G, Sun D, Hu C, Liu Z, Shen D, Wang J, Song T, Zhang W, Li J, Ren X, Han T, Ding C, Wang Y, Fang F. Phenotypes and genotypes of mitochondrial diseases with mtDNA variations in Chinese children: A multi-center study. Mitochondrion 62, 139–150, 2022.10.1016/j.mito.2021.11.00634800692
- Shoshan-Barmatz V, Shteinfer-Kuzmine A, Verma A. VDAC1 at the Intersection of Cell Metabolism, Apoptosis, and Diseases. Biomolecules 10, 1485, 2020.10.3390/biom10111485769397533114780
- Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 63, 35–39, 2008.10.1002/ana.2121717886296
- Schagger H, Pfeiffer K. Supercomplexes in the respiratory chains of yeast and mammalian mitochondria. The EMBO journal 19, 1777–1783, 2000.10.1093/emboj/19.8.177730202010775262
- Schlieben LD, Prokisch H. The dimensions of primary mitochondrial disorders. Front Cell Dev Biol 8, 600079, 2020.10.3389/fcell.2020.600079772622333324649
- Schultz BE, Chan SI. Structures and proton-pumping strategies of mitochondrial respiratory enzymes. Annu Rev Biophys Biomol Struct 30, 23–65, 2001.10.1146/annurev.biophys.30.1.2311340051
- Signes A, Fernandez-Vizarra E. Assembly of mammalian oxidative phosphorylation complexes I–V and supercomplexes. Essays Biochem 62, 255–270, 2018.10.1042/EBC20170098605672030030361
- Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Muller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM. EIF2S3 mutations associated with severe X-linked intellectual disability syndrome MEHMO. Hum Mutat 38, 409–425, 2017.10.1002/humu.23170626778628055140
- Smits P, Smeitink J, van den Heuvel L. Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies. J Biomed Biotechnol 2010, 737385, 2010.10.1155/2010/737385285457020396601
- Sousa JS, D’Imprima E, Vonck J. Mitochondrial respiratory chain complexes. In: Harris JR, Boekema EJ, editors. Membrane protein complexes: structure and function. Subcellular Biochemistry. p. 167–227, Singapore, Springer, 2018.
- van der Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Haines JL, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen Jr. FH, Goetz CG, Small GW, Mastaglia F, Stajich JM, McLaurin AC, Middleton LT, Scott BL, Schmechel DE, Pericak-Vance MA, Vance JM. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet 72, 804–811, 2003.10.1086/373937118034512618962
- Van Haute L, Pearce SF, Powell CA, D’Souza AR, Nicholls TJ, Minczuk M. Mitochondrial transcript maturation and its disorders. J Inherit Metab Dis 38, 655–680, 2015.10.1007/s10545-015-9859-z449394326016801
- Wallace DC. Mitochondrial diseases in man and mouse. Science 283, 1482–1488, 1999.10.1126/science.283.5407.148210066162
- Wong LJC. Molecular genetics of mitochondrial disorders. Dev Disabil Res Rev 16, 154–162, 2010.10.1002/ddrr.10420818730
- Yang M, Xu L, Xu C, Cui Y, Jiang S, Dong J, Liao L. The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients. Front Endocrinol (Lausanne) 12, 728043, 2021.10.3389/fendo.2021.728043865493034899594
- Ylikallio E, Suomalainen A. Mechanisms of mitochondrial diseases. Ann Med 44, 41–59, 2012.10.3109/07853890.2011.59854721806499
- Zachar I, Boza G. Endosymbiosis before eukaryotes: mitochondrial establishment in protoeukaryotes. Cell Mol Life Sci 77, 3503–3523, 2020.10.1007/s00018-020-03462-6745287932008087
- Zhang G, Hou Y, Wang Z, Ye Z. Cognitive profile of patients with mitochondrial chronic progressive external ophthalmoplegia. Front Neurol 11, 36, 2020.10.3389/fneur.2020.00036700065432063883
- Zhao Y, Sun X, Hu D, Prosdocimo DA, Hoppel C, Jain MK, Ramachandran R, Qi X. ATAD3A oligomerization causes neurodegeneration by coupling mitochondrial fragmentation and bioenergetics defects. Nat Commun 10, 1371, 2019.10.1038/s41467-019-09291-x643570130914652