{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T07:47:17Z","timestamp":1772524037832,"version":"3.50.1"},"reference-count":101,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2009,5,1]],"date-time":"2009-05-01T00:00:00Z","timestamp":1241136000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,18]],"date-time":"2013-07-18T00:00:00Z","timestamp":1374105600000},"content-version":"vor","delay-in-days":1539,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Bioenergetics"],"published-print":{"date-parts":[[2009,5]]},"DOI":"10.1016\/j.bbabio.2008.09.003","type":"journal-article","created":{"date-parts":[[2008,9,19]],"date-time":"2008-09-19T08:45:17Z","timestamp":1221813917000},"page":"476-483","source":"Crossref","is-referenced-by-count":51,"title":["20\u00a0years of human mtDNA pathologic point mutations: Carefully reading the pathogenicity criteria"],"prefix":"10.1016","volume":"1787","author":[{"given":"Julio","family":"Montoya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ester","family":"L\u00f3pez-Gallardo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"D\u00edez-S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel J.","family":"L\u00f3pez-P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo","family":"Ruiz-Pesini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbabio.2008.09.003_bib1","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1212\/01.WNL.0000031795.91814.D8","article-title":"Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children","volume":"59","author":"Wolf","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.bbabio.2008.09.003_bib2","first-page":"353","article-title":"Diagnosis of mitochondrial diseases: clinical and histological study of sixty patients with ragged red fibers","volume":"52","author":"Challa","year":"2004","journal-title":"Neurol. India"},{"key":"10.1016\/j.bbabio.2008.09.003_bib3","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1212\/01.wnl.0000244435.27645.54","article-title":"Mitochondrial disease criteria: diagnostic applications in children","volume":"67","author":"Morava","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.bbabio.2008.09.003_bib4","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1007\/s00239-004-2607-x","article-title":"Covariation of mitochondrial genome size with gene lengths: evidence for gene length reduction during mitochondrial evolution","volume":"59","author":"Schneider","year":"2004","journal-title":"J. Mol. Evol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib5","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/S0378-1119(01)00808-3","article-title":"Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease","volume":"286","author":"O'Brien","year":"2002","journal-title":"Gene"},{"key":"10.1016\/j.bbabio.2008.09.003_bib6","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1002\/humu.10304","article-title":"Mitochondrial DNA-like sequences in the nucleus (NUMTs): insights into our African origins and the mechanism of foreign DNA integration","volume":"23","author":"Mishmar","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbabio.2008.09.003_bib7","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1098\/rstb.2002.1191","article-title":"The function of genomes in bioenergetic organelles","volume":"358","author":"Allen","year":"2003","journal-title":"Philos. Trans. R. Soc. Lond., B Biol. Sci."},{"key":"10.1016\/j.bbabio.2008.09.003_bib8","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1146\/annurev.biochem.76.081205.150955","article-title":"Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine","volume":"76","author":"Wallace","year":"2007","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.bbabio.2008.09.003_bib9","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1038\/46466","article-title":"Ubiquitin tag for sperm mitochondria","volume":"402","author":"Sutovsky","year":"1999","journal-title":"Nature"},{"key":"10.1016\/j.bbabio.2008.09.003_bib10","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1073\/pnas.0506911103","article-title":"Active digestion of sperm mitochondrial DNA in single living sperm revealed by optical tweezers","volume":"103","author":"Nishimura","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbabio.2008.09.003_bib11","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S0070-2153(06)77001-6","article-title":"The role of the mitochondrion in sperm function: is there a place for oxidative phosphorylation or is this a purely glycolytic process?","volume":"77","author":"Ruiz-Pesini","year":"2007","journal-title":"Curr. Top. Dev. Biol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib12","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1056\/NEJMoa020350","article-title":"Paternal inheritance of mitochondrial DNA","volume":"347","author":"Schwartz","year":"2002","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bbabio.2008.09.003_bib13","unstructured":"A. Fersht, Structure and mechanism in protein science: a guide to enzyme catalysis and protein folding, W.H. Freeman and company, 1999."},{"key":"10.1016\/j.bbabio.2008.09.003_bib14","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.mad.2008.03.002","article-title":"Mitochondrial DNA repair in aging and disease","volume":"129","author":"Druzhyna","year":"2008","journal-title":"Mech. Ageing Dev."},{"key":"10.1016\/j.bbabio.2008.09.003_bib15","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1073\/pnas.76.4.1967","article-title":"Rapid evolution of animal mitochondrial DNA","volume":"76","author":"Brown","year":"1979","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbabio.2008.09.003_bib16","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1086\/368264","article-title":"The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates","volume":"72","author":"Howell","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib17","doi-asserted-by":"crossref","first-page":"10726","DOI":"10.1073\/pnas.0403649101","article-title":"Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication","volume":"101","author":"Coskun","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbabio.2008.09.003_bib18","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1002\/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P","article-title":"The epidemiology of pathogenic mitochondrial DNA mutations","volume":"48","author":"Chinnery","year":"2000","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib19","doi-asserted-by":"crossref","first-page":"E22","DOI":"10.1136\/jmg.39.5.e22","article-title":"Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations","volume":"39","author":"Chinnery","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib20","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/mus.20807","article-title":"Pathogenic mitochondrial DNA mutations in protein-coding genes","volume":"36","author":"Wong","year":"2007","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.bbabio.2008.09.003_bib21","series-title":"Mitochondrial Medicine","author":"DiMauro","year":"2006"},{"key":"10.1016\/j.bbabio.2008.09.003_bib22","doi-asserted-by":"crossref","first-page":"6206","DOI":"10.1073\/pnas.91.13.6206","article-title":"A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia","volume":"91","author":"Jun","year":"1994","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbabio.2008.09.003_bib23","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"key":"10.1016\/j.bbabio.2008.09.003_bib24","first-page":"381","article-title":"Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage","volume":"60","author":"Brown","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib25","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/ng0793-289","article-title":"Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness","volume":"4","author":"Prezant","year":"1993","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib26","first-page":"852","article-title":"Heteroplasmic mtDNA mutation (T\u2013G) at 8993 can cause Leigh disease when the percentage of abnormal DNA is high","volume":"50","author":"Tatuch","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib27","doi-asserted-by":"crossref","first-page":"1351","DOI":"10.1172\/JCI19435","article-title":"Mitochondrial DNA mutations in human colonic crypt stem cells","volume":"112","author":"Taylor","year":"2003","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbabio.2008.09.003_bib28","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1126\/science.1147786","article-title":"A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations","volume":"319","author":"Fan","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.bbabio.2008.09.003_bib29","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.ajhg.2007.10.007","article-title":"Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A->G mutation in blood","volume":"82","author":"Rajasimha","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib30","doi-asserted-by":"crossref","first-page":"e10","DOI":"10.1371\/journal.pbio.0060010","article-title":"Strong purifying selection in transmission of mammalian mitochondrial DNA","volume":"6","author":"Stewart","year":"2008","journal-title":"PLoS Biol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib31","first-page":"416","article-title":"[Diseases of the human mitochondrial oxidative phosphorylation system.]","volume":"43","author":"Ruiz-Pesini","year":"2006","journal-title":"Rev. Neurol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib32","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1002\/(SICI)1097-4598(199811)21:11<1374::AID-MUS3>3.0.CO;2-6","article-title":"Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction","volume":"21","author":"Sciacco","year":"1998","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.bbabio.2008.09.003_bib33","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s10540-007-9034-3","article-title":"Neuropathology of mitochondrial diseases","volume":"27","author":"Filosto","year":"2007","journal-title":"Biosci. Rep."},{"key":"10.1016\/j.bbabio.2008.09.003_bib34","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/S0960-8966(01)00244-9","article-title":"A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III","volume":"12","author":"Lamantea","year":"2002","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.bbabio.2008.09.003_bib35","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/S1097-2765(04)00124-8","article-title":"Respiratory complex III is required to maintain complex I in mammalian mitochondria","volume":"13","author":"Acin-Perez","year":"2004","journal-title":"Mol. Cell"},{"key":"10.1016\/j.bbabio.2008.09.003_bib36","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1016\/j.bbabio.2006.03.023","article-title":"Mitochondrial DNA transcription and diseases: past, present and future","volume":"1757","author":"Montoya","year":"2006","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbabio.2008.09.003_bib37","doi-asserted-by":"crossref","first-page":"5868","DOI":"10.1128\/MCB.18.10.5868","article-title":"The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression","volume":"18","author":"Guan","year":"1998","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib38","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/BF02099853","article-title":"Structural elements highly preserved during the evolution of the D-Loop region in vertebrate mitochondrial DNA","volume":"26","author":"Saccone","year":"1987","journal-title":"J. Mol. Evol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib39","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1093\/hmg\/ddg055","article-title":"Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor","volume":"12","author":"Duan","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib40","doi-asserted-by":"crossref","first-page":"1896","DOI":"10.1210\/mend.13.11.0369","article-title":"Multiple androgen response elements and a Myc consensus site in the androgen receptor (AR) coding region are involved in androgen-mediated up-regulation of AR messenger RNA","volume":"13","author":"Grad","year":"1999","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib41","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1038\/nrg1770","article-title":"Hearing silence: non-neutral evolution at synonymous sites in mammals","volume":"7","author":"Chamary","year":"2006","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib42","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1002\/ana.410410319","article-title":"A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis","volume":"41","author":"Chinnery","year":"1997","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib43","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.nmd.2003.10.011","article-title":"A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis","volume":"14","author":"McFarland","year":"2004","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.bbabio.2008.09.003_bib44","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1086\/425871","article-title":"Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia","volume":"75","author":"Palanichamy","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib45","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1093\/molbev\/msl209","article-title":"Whole-mtDNA genome sequence analysis of ancient African lineages","volume":"24","author":"Gonder","year":"2007","journal-title":"Mol. Biol. Evol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib46","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1038\/ng1451","article-title":"Mechanisms and convergence of compensatory evolution in mammalian mitochondrial tRNAs","volume":"36","author":"Kern","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib47","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1002\/humu.20378","article-title":"Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA","volume":"27","author":"Ruiz-Pesini","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbabio.2008.09.003_bib48","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1006\/bbrc.1998.8729","article-title":"A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease","volume":"247","author":"Kleinle","year":"1998","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbabio.2008.09.003_bib49","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/BF00434661","article-title":"Sequence analysis of cDNAs for the human and bovine ATP synthase beta subunit: mitochondrial DNA genes sustain seventeen times more mutations","volume":"12","author":"Wallace","year":"1987","journal-title":"Curr. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib50","doi-asserted-by":"crossref","first-page":"13950","DOI":"10.1073\/pnas.202400499","article-title":"Natural radioactivity and human mitochondrial DNA mutations","volume":"99","author":"Forster","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbabio.2008.09.003_bib51","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1172\/JCI17828","article-title":"Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency","volume":"111","author":"Nishigaki","year":"2003","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbabio.2008.09.003_bib52","doi-asserted-by":"crossref","first-page":"3053","DOI":"10.1093\/nar\/gkh634","article-title":"Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA","volume":"32","author":"Wanrooij","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbabio.2008.09.003_bib53","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/1096-8628(20011215)104:4<331::AID-AJMG10054>3.0.CO;2-W","article-title":"Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations","volume":"104","author":"Brown","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib54","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1097\/00041327-200212000-00002","article-title":"Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations","volume":"22","author":"Howell","year":"2002","journal-title":"J. Neuro-ophthalmol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib55","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1016\/j.bbrc.2007.04.025","article-title":"The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss","volume":"357","author":"Wei","year":"2007","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbabio.2008.09.003_bib56","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1042\/BSR20080004","article-title":"Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia","volume":"28","author":"Kornblum","year":"2008","journal-title":"Biosci. Rep."},{"key":"10.1016\/j.bbabio.2008.09.003_bib57","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1038\/ng0498-350","article-title":"A tRNA suppressor mutation in human mitochondria","volume":"18","author":"ElMeziane","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib58","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1093\/hmg\/11.16.1797","article-title":"Metabolic consequences of a novel missense mutation of the mtDNA CO I gene","volume":"11","author":"Varlamov","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib59","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1086\/339933","article-title":"Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups","volume":"70","author":"Herrnstadt","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib60","doi-asserted-by":"crossref","first-page":"D823","DOI":"10.1093\/nar\/gkl927","article-title":"An enhanced MITOMAP with a global mtDNA mutational phylogeny","volume":"35","author":"Ruiz-Pesini","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbabio.2008.09.003_bib61","doi-asserted-by":"crossref","first-page":"E103","DOI":"10.1002\/humu.20800","article-title":"A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1)","volume":"29","author":"Herrero-Martin","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbabio.2008.09.003_bib62","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1016\/S0002-9297(07)62954-1","article-title":"Tracing European founder lineages in the near eastern mtDNA pool","volume":"67","author":"Richards","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib63","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/j.bbrc.2005.07.161","article-title":"A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics","volume":"335","author":"Salas","year":"2005","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbabio.2008.09.003_bib64","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1097\/MCO.0b013e3282f0b774","article-title":"Lessons that can be learned from patients with diabetogenic mutations in mitochondrial DNA: implications for common type 2 diabetes","volume":"10","author":"Maassen","year":"2007","journal-title":"Curr. Opin. Clin. Nutr. Metab. Care"},{"key":"10.1016\/j.bbabio.2008.09.003_bib65","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/s00439-003-1004-7","article-title":"Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China","volume":"113","author":"Kong","year":"2003","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib66","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1086\/381133","article-title":"Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family","volume":"74","author":"Zhao","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib67","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/ajmg.a.20135","article-title":"Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background","volume":"119A","author":"Howell","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib68","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1086\/375537","article-title":"Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy","volume":"72","author":"Howell","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib69","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.gene.2007.06.009","article-title":"Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees","volume":"401","author":"Chen","year":"2007","journal-title":"Gene"},{"key":"10.1016\/j.bbabio.2008.09.003_bib70","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1097\/AUD.0b013e318047941e","article-title":"Prevalence and clinical features of the mitochondrial m.1555A>G mutation in Taiwanese patients with idiopathic sensorineural hearing loss and association of haplogroup F with low penetrance in three families","volume":"28","author":"Wu","year":"2007","journal-title":"Ear Hear."},{"key":"10.1016\/j.bbabio.2008.09.003_bib71","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.bbrc.2007.07.161","article-title":"Coexistence of mitochondrial 12S rRNA C1494T and CO1\/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss","volume":"362","author":"Yuan","year":"2007","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbabio.2008.09.003_bib72","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1016\/j.bbrc.2006.07.119","article-title":"mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese","volume":"348","author":"Wang","year":"2006","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbabio.2008.09.003_bib73","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1038\/ng.2007.63","article-title":"A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes","volume":"40","author":"Cree","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib74","doi-asserted-by":"crossref","first-page":"7325","DOI":"10.1093\/nar\/17.18.7325","article-title":"Rapid segregation of heteroplasmic bovine mitochondria","volume":"17","author":"Ashley","year":"1989","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbabio.2008.09.003_bib75","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1086\/518901","article-title":"Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A->G","volume":"81","author":"Durham","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib76","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/BF03256215","article-title":"Detection of low levels of the mitochondrial tRNA(Leu(UUR)) 3243A>G mutation in blood derived from patients with diabetes","volume":"10","author":"Procaccio","year":"2006","journal-title":"Mol. Diagn. Ther."},{"key":"10.1016\/j.bbabio.2008.09.003_bib77","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.diabres.2003.10.024","article-title":"Lipoma and opthalmoplegia in mitochondrial diabetes associated with small heteroplasmy level of 3243 tRNA(Leu(UUR)) mutation","volume":"63","author":"Suzuki","year":"2004","journal-title":"Diabetes Res. Clin. Pract."},{"key":"10.1016\/j.bbabio.2008.09.003_bib78","doi-asserted-by":"crossref","first-page":"1814","DOI":"10.1093\/hmg\/ddn073","article-title":"A Functionally Dominant Mitochondrial DNA Mutation","volume":"17","author":"Sacconi","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib79","doi-asserted-by":"crossref","first-page":"4526","DOI":"10.1073\/pnas.94.9.4526","article-title":"Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease","volume":"94","author":"Davis","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbabio.2008.09.003_bib80","doi-asserted-by":"crossref","first-page":"14900","DOI":"10.1073\/pnas.94.26.14900","article-title":"Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations","volume":"94","author":"Wallace","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbabio.2008.09.003_bib81","doi-asserted-by":"crossref","first-page":"14894","DOI":"10.1073\/pnas.94.26.14894","article-title":"Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes","volume":"94","author":"Hirano","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbabio.2008.09.003_bib82","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1006\/bbrc.1998.8353","article-title":"Evidence that two reports of mtDNA cytochrome c oxidase \u201c'mutations\u201d in Alzheimer's disease are based on nDNA pseudogenes of recent evolutionary origin","volume":"244","author":"Davis","year":"1998","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbabio.2008.09.003_bib83","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1016\/j.bbabio.2007.07.008","article-title":"Human mitochondrial complex I assembly: a dynamic and versatile process","volume":"1767","author":"Vogel","year":"2007","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbabio.2008.09.003_bib84","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.gene.2006.03.015","article-title":"Adaptive selection of mitochondrial complex I subunits during primate radiation","volume":"378","author":"Mishmar","year":"2006","journal-title":"Gene"},{"key":"10.1016\/j.bbabio.2008.09.003_bib85","doi-asserted-by":"crossref","first-page":"14210","DOI":"10.1074\/jbc.273.23.14210","article-title":"Human xenomitochondrial cybrids\u2014cellular models of mitochondrial complex I deficiency","volume":"273","author":"Barrientos","year":"1998","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbabio.2008.09.003_bib86","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1093\/oxfordjournals.molbev.a003836","article-title":"Evolution of nuclear- and mitochondrial-encoded subunit interaction in cytochrome c oxidase","volume":"18","author":"Schmidt","year":"2001","journal-title":"Mol. Biol. Evol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib87","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s10048-005-0015-z","article-title":"Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient","volume":"7","author":"Lucioli","year":"2006","journal-title":"Neurogenetics"},{"key":"10.1016\/j.bbabio.2008.09.003_bib88","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1083\/jcb.67.1.174","article-title":"Cytoplasmic transfer of chloramphenicol resistance in human tissue culture cells","volume":"67","author":"Wallace","year":"1975","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib89","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1126\/science.2814477","article-title":"Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation","volume":"246","author":"King","year":"1989","journal-title":"Science"},{"key":"10.1016\/j.bbabio.2008.09.003_bib90","doi-asserted-by":"crossref","first-page":"2236","DOI":"10.1128\/MCB.11.4.2236","article-title":"In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria","volume":"11","author":"Chomyn","year":"1991","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib91","doi-asserted-by":"crossref","first-page":"39831","DOI":"10.1074\/jbc.M006476200","article-title":"Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation","volume":"275","author":"Brown","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbabio.2008.09.003_bib92","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1001\/archneur.62.5.730","article-title":"Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids","volume":"62","author":"Baracca","year":"2005","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib93","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1093\/hmg\/8.6.1117","article-title":"Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background.","volume":"8","author":"Hao","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib94","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/ng819","article-title":"Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation","volume":"30","author":"McFarland","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbabio.2008.09.003_bib95","doi-asserted-by":"crossref","first-page":"3065","DOI":"10.1093\/nar\/gkn147","article-title":"Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation","volume":"36","author":"Rorbach","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbabio.2008.09.003_bib96","doi-asserted-by":"crossref","first-page":"3416","DOI":"10.1002\/jnr.21167","article-title":"Mitochondria in cybrids containing mtDNA from persons with mitochondriopathies","volume":"85","author":"Swerdlow","year":"2007","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.bbabio.2008.09.003_bib97","doi-asserted-by":"crossref","first-page":"36845","DOI":"10.1074\/jbc.M704158200","article-title":"Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption","volume":"282","author":"McKenzie","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbabio.2008.09.003_bib98","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/s10863-008-9130-5","article-title":"Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases","volume":"40","author":"Rocher","year":"2008","journal-title":"J. Bioenerg. Biomembranes"},{"key":"10.1016\/j.bbabio.2008.09.003_bib99","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1111\/j.1750-3639.2000.tb00275.x","article-title":"Mutations in mtDNA: are we scraping the bottom of the barrel?","volume":"10","author":"DiMauro","year":"2000","journal-title":"Brain Pathol."},{"key":"10.1016\/j.bbabio.2008.09.003_bib100","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.cell.2008.06.016","article-title":"A mitochondrial protein compendium elucidates complex I disease biology","volume":"134","author":"Pagliarini","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.bbabio.2008.09.003_bib101","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1038\/ng1897","article-title":"Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants","volume":"38","author":"Moreno-Loshuertos","year":"2006","journal-title":"Nat. Genet."}],"container-title":["Biochimica et Biophysica Acta (BBA) - Bioenergetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0005272808006713?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0005272808006713?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,25]],"date-time":"2018-12-25T15:26:43Z","timestamp":1545751603000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0005272808006713"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5]]},"references-count":101,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2009,5]]}},"alternative-id":["S0005272808006713"],"URL":"https:\/\/doi.org\/10.1016\/j.bbabio.2008.09.003","relation":{},"ISSN":["0005-2728"],"issn-type":[{"value":"0005-2728","type":"print"}],"subject":[],"published":{"date-parts":[[2009,5]]}}}