{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:25:50Z","timestamp":1791116750942,"version":"4.1.0"},"reference-count":34,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2005,6,1]],"date-time":"2005-06-01T00:00:00Z","timestamp":1117584000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":2970,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2005,6]]},"DOI":"10.1086\/430843","type":"journal-article","created":{"date-parts":[[2005,5,6]],"date-time":"2005-05-06T18:15:37Z","timestamp":1115403337000},"page":"1081-1086","source":"Crossref","is-referenced-by-count":269,"title":["Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion"],"prefix":"10.1016","volume":"76","author":[{"given":"Orly","family":"Elpeleg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaya","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eli","family":"Hershkovitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Bitner-Glindzicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gili","family":"Bondi-Rubinstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shamima","family":"Rahman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alistair","family":"Pagnamenta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Eshhar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Saada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/430843_bib4","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0014-5793(86)80071-0","article-title":"Succinate thiokinase in pigeon breast muscle mitochondria","volume":"194","author":"Allen","year":"1986","journal-title":"FEBS Lett"},{"key":"10.1086\/430843_bib5","doi-asserted-by":"crossref","first-page":"D459","DOI":"10.1093\/nar\/gkh137","article-title":"MitoP2, an integrated database on mitochondrial proteins in yeast and man","volume":"32","author":"Andreoli","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/430843_bib6","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1126\/science.287.5454.848","article-title":"Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma","volume":"287","author":"Baysal","year":"2000","journal-title":"Science"},{"key":"10.1086\/430843_bib7","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":"10.1086\/430843_bib8","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1074\/mcp.M300035-MCP200","article-title":"Protein components of mitochondrial DNA nucleoids in higher eukaryotes","volume":"2","author":"Bogenhagen","year":"2003","journal-title":"Mol Cell Proteomics"},{"key":"10.1086\/430843_bib9","doi-asserted-by":"crossref","DOI":"10.1152\/ajpcell.00530.2004","article-title":"A computational model of mitochondrial deoxynucleotide metabolism and DNA replication","author":"Bradshaw","year":"2005","journal-title":"Am J Physiol Cell Physiol"},{"key":"10.1086\/430843_bib10","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1016\/S0021-9258(18)91291-3","article-title":"Succinic thiokinase. I. Purification of the enzyme from pig heart","volume":"239","author":"Cha","year":"1964","journal-title":"J Biol Chem"},{"key":"10.1086\/430843_bib11","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1126\/science.1106391","article-title":"Aconitase couples metabolic regulation to mitochondrial DNA maintenance","volume":"307","author":"Chen","year":"2005","journal-title":"Science"},{"key":"10.1086\/430843_bib12","first-page":"1","article-title":"Steady state kinetics of high molecular weight (type I) NADH dehydrogenase","volume":"440","author":"Dooijewaard","year":"1976","journal-title":"Biochem Biophys Acta"},{"key":"10.1086\/430843_bib13","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":"10.1086\/430843_bib14","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":"10.1086\/430843_bib15","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/0003-9861(69)90528-1","article-title":"An improved procedure for preparation of inner membrane vesicles from rat liver mitochondria by treatment with digitonin","volume":"135","author":"Hoppel","year":"1969","journal-title":"Arch Biochem Biophys"},{"key":"10.1086\/430843_bib16","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/S0968-0004(98)01335-8","article-title":"Moonlighting proteins","volume":"24","author":"Jeffery","year":"1999","journal-title":"Trends Biochem Sci"},{"key":"10.1086\/430843_bib17","doi-asserted-by":"crossref","first-page":"27580","DOI":"10.1074\/jbc.273.42.27580","article-title":"Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes","volume":"273","author":"Johnson","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1086\/430843_bib18","doi-asserted-by":"crossref","first-page":"27573","DOI":"10.1074\/jbc.273.42.27573","article-title":"Characterization of the ATP- and GTP-specific succinyl-CoA synthetases in pigeon: the enzymes incorporate the same \u03b1-subunit","volume":"273","author":"Johnson","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1086\/430843_bib19","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":"10.1086\/430843_bib20","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":"10.1086\/430843_bib21","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 \u03b2 cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase","volume":"398","author":"Kowluru","year":"2002","journal-title":"Arch Biochem Biophys"},{"key":"10.1086\/430843_bib22","doi-asserted-by":"crossref","first-page":"36621","DOI":"10.1074\/jbc.M406884200","article-title":"Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues","volume":"279","author":"Lambeth","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1086\/430843_bib23","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"},{"key":"10.1086\/430843_bib24","doi-asserted-by":"crossref","first-page":"14264","DOI":"10.1074\/jbc.275.19.14264","article-title":"The human nm23-H4 gene product is a mitochondrial nucleoside diphosphate kinase","volume":"275","author":"Milon","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1086\/430843_bib25","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1007\/s004390050405","article-title":"nm23-H4, a new member of the family of human nm23\/nucleoside diphosphate kinase genes localized on chromosome 16p13","volume":"99","author":"Milon","year":"1997","journal-title":"Hum Genet"},{"key":"10.1086\/430843_bib26","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":"10.1086\/430843_bib27","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/ana.20079","article-title":"POLG mutations associated with Alpers\u2019 syndrome and mitochondrial DNA depletion","volume":"55","author":"Naviaux","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1086\/430843_bib28","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1126\/science.283.5402.689","article-title":"Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder","volume":"283","author":"Nishino","year":"1999","journal-title":"Science"},{"key":"10.1086\/430843_bib29","series-title":"The enzymes","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S1874-6047(08)60069-4","article-title":"Nucleoside diphosphokinases","author":"Parks","year":"1973"},{"key":"10.1086\/430843_bib30","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/S0925-4439(97)00035-5","article-title":"Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human","volume":"1361","author":"Rustin","year":"1997","journal-title":"Biochim Biophys Acta"},{"key":"10.1086\/430843_bib31","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":"10.1086\/430843_bib32","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":"10.1086\/430843_bib33","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1016\/0006-3002(54)90205-X","article-title":"Guanosine triphosphate, the primary product of phosphorylation coupled to the breakdown of succinyl coenzyme A","volume":"14","author":"Sanadi","year":"1954","journal-title":"Biochim Biophys Acta"},{"key":"10.1086\/430843_bib34","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/ng849","article-title":"Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer","volume":"30","author":"Tomlinson","year":"2002","journal-title":"Nat Genet"},{"key":"10.1086\/430843_bib35","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":"10.1086\/430843_bib36","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":"10.1086\/430843_bib37","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/0014-5793(86)81223-6","article-title":"Occurrence of two distinct succinate thiokinases in animal tissues","volume":"199","author":"Weitzman","year":"1986","journal-title":"FEBS Lett"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707629036?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707629036?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,7,10]],"date-time":"2021-07-10T17:26:42Z","timestamp":1625938002000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707629036"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,6]]},"references-count":34,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2005,6]]}},"alternative-id":["S0002929707629036"],"URL":"https:\/\/doi.org\/10.1086\/430843","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2005,6]]}}}