{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T19:17:40Z","timestamp":1786994260183,"version":"build-2736575974"},"reference-count":46,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2007,2]]},"DOI":"10.1016\/j.mito.2006.11.010","type":"journal-article","created":{"date-parts":[[2006,12,6]],"date-time":"2006-12-06T07:13:37Z","timestamp":1165389217000},"page":"6-12","source":"Crossref","is-referenced-by-count":79,"title":["Depletion of mtDNA: Syndromes and genes"],"prefix":"10.1016","volume":"7","author":[{"given":"Simona","family":"Alberio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossana","family":"Mineri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Tiranti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mito.2006.11.010_bib1","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1212\/01.WNL.0000056088.09408.3C","article-title":"Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)","volume":"60","author":"Agostino","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.mito.2006.11.010_bib2","doi-asserted-by":"crossref","first-page":"2938","DOI":"10.1016\/S0021-9258(17)33481-6","article-title":"Thymidylate nucleotide supply for mitochondrial DNA synthesis in mouse L-cells. Effect of 5-fluorodeoxyuridine and methotrexate in thymidine kinase plus and thymidine kinase minus cells","volume":"251","author":"Bogenhagen","year":"1976","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2006.11.010_bib3","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1038\/ng1776","article-title":"Systematic identification of human mitochondrial disease genes through integrative genomics","volume":"38","author":"Calvo","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mito.2006.11.010_bib4","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/humu.9135","article-title":"Mutation analysis in 16 patients with mtDNA depletion","volume":"21","author":"Carrozzo","year":"2003","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mito.2006.11.010_bib5","doi-asserted-by":"crossref","first-page":"31341","DOI":"10.1074\/jbc.M506762200","article-title":"The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit","volume":"280","author":"Chan","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2006.11.010_bib6","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1002\/ana.20498","article-title":"POLG mutations and Alpers syndrome","volume":"57","author":"Davidzon","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mito.2006.11.010_bib7","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/S0168-8278(99)80019-1","article-title":"Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis","volume":"30","author":"Ducluzeau","year":"1999","journal-title":"J. Hepatol."},{"key":"10.1016\/j.mito.2006.11.010_bib8","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1203\/01.PDR.0000072796.25097.A5","article-title":"Inherited mitochondrial DNA depletion","volume":"54","author":"Elpeleg","year":"2003","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.mito.2006.11.010_bib9","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1086\/430843","article-title":"Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion","volume":"76","author":"Elpeleg","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2006.11.010_bib10","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1093\/brain\/awh410","article-title":"Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gamma A","volume":"128","author":"Ferrari","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.mito.2006.11.010_bib11","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.pediatrneurol.2005.07.013","article-title":"New mutations in TK2 gene associated with mitochondrial DNA depletion","volume":"34","author":"Galbiati","year":"2006","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.mito.2006.11.010_bib12","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1093\/brain\/awl088","article-title":"Phenotypic spectrum associated with mutations of the mitochondrial polymerase \u03b3 gene","volume":"129","author":"Horvath","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.mito.2006.11.010_bib13","doi-asserted-by":"crossref","first-page":"8454","DOI":"10.1074\/jbc.272.13.8454","article-title":"Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2","volume":"272","author":"Johansson","year":"1997","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2006.11.010_bib14","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/0304-4165(91)90083-S","article-title":"Apparent ATP-linked succinate thiokinase activity and its relation to nucleoside diphosphate kinase in mitochondrial matrix preparations from rabbit","volume":"1074","author":"Kadrmas","year":"1991","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.mito.2006.11.010_bib15","doi-asserted-by":"crossref","first-page":"5883","DOI":"10.1073\/pnas.91.13.5883","article-title":"Characterization of nucleoside-diphosphate kinase from Pseudomonas aeruginosa: complex formation with succinyl-CoA synthetase","volume":"91","author":"Kavanaugh-Black","year":"1994","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.mito.2006.11.010_bib16","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1006\/abbi.2001.2710","article-title":"Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase","volume":"398","author":"Kowluru","year":"2002","journal-title":"Arch. Biochem. Biophys."},{"key":"10.1016\/j.mito.2006.11.010_bib17","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1002\/ana.10278","article-title":"Mutations of mitochondrial DNA polymerase gamma-A are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia","volume":"52","author":"Lamantea","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mito.2006.11.010_bib18","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1016\/S0140-6736(04)16983-3","article-title":"Parkinsonism, premature menopause, and mitochondrial DNA polymerase-gamma mutations: clinical and molecular genetic study","volume":"364","author":"Luoma","year":"2004","journal-title":"Lancet"},{"key":"10.1016\/j.mito.2006.11.010_bib19","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1212\/01.WNL.0000028689.93049.9A","article-title":"Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA","volume":"59","author":"Mancuso","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.mito.2006.11.010_bib20","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1001\/archneur.60.7.1007","article-title":"Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene","volume":"60","author":"Mancuso","year":"2003","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.mito.2006.11.010_bib21","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/ng746","article-title":"The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA","volume":"29","author":"Mandel","year":"2001","journal-title":"Nat. Genet."},{"issue":"6","key":"10.1016\/j.mito.2006.11.010_bib22","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/S0022-3476(05)80335-X","article-title":"Fatal infantile liver failure associated with mitochondrial DNA depletion","volume":"121","author":"Mazziotta","year":"1992","journal-title":"J. Pediatr."},{"key":"10.1016\/j.mito.2006.11.010_bib23","first-page":"492","article-title":"mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases","volume":"48","author":"Moraes","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2006.11.010_bib24","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1002\/ana.20544","article-title":"POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion","volume":"58","author":"Naviaux","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mito.2006.11.010_bib25","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1212\/01.wnl.0000182814.55361.70","article-title":"POLG mutations in Alpers syndrome","volume":"65","author":"Nguyen","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.mito.2006.11.010_bib26","doi-asserted-by":"crossref","DOI":"10.1016\/j.jhep.2005.12.026","article-title":"Molecular diagnosis of Alpers syndrome","author":"Nguyen","year":"2006","journal-title":"J. Hepatol."},{"key":"10.1016\/j.mito.2006.11.010_bib27","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/0305-0491(73)90070-9","article-title":"Purine metabolism in primitive erythrocytes","volume":"45","author":"Parks","year":"1973","journal-title":"Comp. Biochem. Physiol. B."},{"key":"10.1016\/j.mito.2006.11.010_bib28","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1089\/dna.2004.23.797","article-title":"Deoxyribonucleotides and disorders of mitochondrial DNA integrity","volume":"23","author":"Saada","year":"2004","journal-title":"DNA Cell Biol."},{"key":"10.1016\/j.mito.2006.11.010_bib29","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/ng751","article-title":"Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy","volume":"29","author":"Saada","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mito.2006.11.010_bib30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S1096-7192(03)00063-5","article-title":"mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency","volume":"79","author":"Saada","year":"2003","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.mito.2006.11.010_bib31","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/ana.10284","article-title":"Mitochondrial DNA depletion and dGK gene mutations","volume":"52","author":"Salviati","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mito.2006.11.010_bib32","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.ymgme.2005.09.006","article-title":"Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement","volume":"86","author":"Slama","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.mito.2006.11.010_bib33","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1038\/ng1765","article-title":"MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion","volume":"38","author":"Spinazzola","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mito.2006.11.010_bib34","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/ana.10247","article-title":"A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA","volume":"52","author":"Taanman","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mito.2006.11.010_bib35","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/ajmg.a.30748","article-title":"Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria","volume":"135A","author":"Tadiboyina","year":"2005","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.mito.2006.11.010_bib36","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1212\/WNL.42.1.209","article-title":"Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA","volume":"42","author":"Tritschler","year":"1992","journal-title":"Neurology"},{"key":"10.1016\/j.mito.2006.11.010_bib37","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1093\/brain\/awl097","article-title":"The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases","volume":"129","author":"Tzoulis","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.mito.2006.11.010_bib38","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/90034","article-title":"Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions","volume":"28","author":"Van Goethem","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mito.2006.11.010_bib39","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0960-8966(02)00216-X","article-title":"Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia","volume":"13","author":"Van Goethem","year":"2003","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.mito.2006.11.010_bib40","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1212\/01.WNL.0000140494.58732.83","article-title":"POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement","volume":"63","author":"Van Goethem","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.mito.2006.11.010_bib41","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1212\/01.WNL.0000055928.58122.47","article-title":"Reversion of mtDNA depletion in a patient with TK2 deficiency","volume":"60","author":"Vila","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.mito.2006.11.010_bib42","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1212\/WNL.50.6.1783","article-title":"Clinical manifestations of mitochondrial DNA depletion","volume":"50","author":"Vu","year":"1998","journal-title":"Neurology"},{"key":"10.1016\/j.mito.2006.11.010_bib43","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.ymgme.2004.09.005","article-title":"Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes","volume":"84","author":"Wang","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.mito.2006.11.010_bib44","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1212\/01.WNL.0000156516.77696.5A","article-title":"A autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase-gamma mutations","volume":"64","author":"Winterthun","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.mito.2006.11.010_bib45","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/S0092-8674(02)01075-9","article-title":"Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication","volume":"111","author":"Yang","year":"2002","journal-title":"Cell"},{"key":"10.1016\/j.mito.2006.11.010_bib46","doi-asserted-by":"crossref","first-page":"5129","DOI":"10.1002\/j.1460-2075.1994.tb06842.x","article-title":"The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species","volume":"13","author":"Zwacka","year":"1994","journal-title":"EMBO J."}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724906002352?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724906002352?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,8,5]],"date-time":"2021-08-05T09:57:54Z","timestamp":1628157474000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724906002352"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,2]]},"references-count":46,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2007,2]]}},"alternative-id":["S1567724906002352"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2006.11.010","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2007,2]]}}}