{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T10:52:02Z","timestamp":1791024722427,"version":"4.1.0"},"reference-count":37,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"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":3852,"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":[[2003,1]]},"DOI":"10.1086\/345489","type":"journal-article","created":{"date-parts":[[2003,1,17]],"date-time":"2003-01-17T16:59:52Z","timestamp":1042822792000},"page":"101-114","source":"Crossref","is-referenced-by-count":284,"title":["Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy"],"prefix":"10.1016","volume":"72","author":[{"given":"Hana","family":"Antonicka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Mattman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher G.","family":"Carlson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Moira","family":"Glerum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen C.","family":"Hoffbuhr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scot C.","family":"Leary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy G.","family":"Kennaway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric A.","family":"Shoubridge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/345489_bib4","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/S0378-1119(01)00803-4","article-title":"Cytochrome oxidase in health and disease","volume":"286","author":"Barrientos","year":"2002","journal-title":"Gene"},{"key":"10.1086\/345489_bib5","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0014-5793(01)02249-9","article-title":"Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation of heme O","volume":"492","author":"Barros","year":"2001","journal-title":"FEBS Lett"},{"key":"10.1086\/345489_bib6","doi-asserted-by":"crossref","first-page":"9997","DOI":"10.1074\/jbc.M112025200","article-title":"Mitochondrial ferredoxin is required for heme A synthesis in Saccharomyces cerevisiae","volume":"277","author":"Barros","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1086\/345489_bib7","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/S0014-5793(02)02514-0","article-title":"Regulation of the heme A biosynthetic pathway in Saccharomyces cerevisiae","volume":"516","author":"Barros","year":"2002","journal-title":"FEBS Lett"},{"key":"10.1086\/345489_bib8","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/0003-2697(76)90527-3","article-title":"A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding","volume":"72","author":"Bradford","year":"1976","journal-title":"Anal Biochem"},{"key":"10.1086\/345489_bib9","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/0076-6879(95)60134-1","article-title":"Mammalian cytochrome-c oxidase: characterization of enzyme and immunological detection of subunits in tissue extracts and whole cells","volume":"260","author":"Capaldi","year":"1995","journal-title":"Methods Enzymol"},{"key":"10.1086\/345489_bib10","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1006\/bbrc.1999.1662","article-title":"SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency","volume":"265","author":"Coenen","year":"1999","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/345489_bib11","doi-asserted-by":"crossref","first-page":"19088","DOI":"10.1074\/jbc.272.30.19088","article-title":"COX15 codes for a mitochondrial protein essential for the assembly of yeast cytochrome oxidase","volume":"272","author":"Glerum","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1086\/345489_bib12","doi-asserted-by":"crossref","first-page":"8452","DOI":"10.1073\/pnas.91.18.8452","article-title":"Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant","volume":"91","author":"Glerum","year":"1994","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/345489_bib13","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1136\/jmg.35.11.895","article-title":"A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy","volume":"35","author":"Jaksch","year":"1998","journal-title":"J Med Genet"},{"key":"10.1086\/345489_bib14","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1093\/hmg\/9.5.795","article-title":"Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency","volume":"9","author":"Jaksch","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/345489_bib15","doi-asserted-by":"crossref","first-page":"3025","DOI":"10.1093\/hmg\/10.26.3025","article-title":"Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts","volume":"10","author":"Jaksch","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1086\/345489_bib16","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1203\/00006450-199011000-00024","article-title":"Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency","volume":"28","author":"Kennaway","year":"1990","journal-title":"Pediatr Res"},{"key":"10.1086\/345489_bib17","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1006\/abio.1995.1523","article-title":"Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin","volume":"231","author":"Klement","year":"1995","journal-title":"Anal Biochem"},{"key":"10.1086\/345489_bib18","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1006\/excr.1999.4407","article-title":"Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts","volume":"248","author":"Lochmuller","year":"1999","journal-title":"Exp Cell Res"},{"key":"10.1086\/345489_bib19","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/S0042-6822(88)90101-8","article-title":"Construction and use of a safe and efficient amphotropic packaging cell line","volume":"167","author":"Markowitz","year":"1988","journal-title":"Virology"},{"key":"10.1086\/345489_bib20","series-title":"Atlas of human histology and ultrastructure","author":"Matthews","year":"1971"},{"key":"10.1086\/345489_bib21","doi-asserted-by":"crossref","first-page":"11872","DOI":"10.1016\/S0021-9258(18)67323-5","article-title":"Nuclear functions required for cytochrome c oxidase biogenesis in Saccharomyces cerevisiae: characterization of mutants in 34 complementation groups","volume":"261","author":"McEwen","year":"1986","journal-title":"J Biol Chem"},{"key":"10.1086\/345489_bib22","doi-asserted-by":"crossref","first-page":"2895","DOI":"10.1128\/MCB.6.8.2895","article-title":"Redesign of retrovirus packaging cell lines to avoid recombination leading to helper virus production","volume":"6","author":"Miller","year":"1986","journal-title":"Mol Cell Biol"},{"key":"10.1086\/345489_bib23","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/0076-6879(93)17090-R","article-title":"Use of retroviral vectors for gene transfer and expression","volume":"217","author":"Miller","year":"1993","journal-title":"Methods Enzymol"},{"key":"10.1086\/345489_bib24","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1046\/j.1432-1327.1998.2540389.x","article-title":"Assembly of cytochrome-c oxidase in cultured human cells","volume":"254","author":"Nijtmans","year":"1998","journal-title":"Eur J Biochem"},{"key":"10.1086\/345489_bib25","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/15513","article-title":"Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene","volume":"23","author":"Papadopoulou","year":"1999","journal-title":"Nat Genet"},{"key":"10.1086\/345489_bib26","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1006\/geno.1998.5580","article-title":"Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain","volume":"54","author":"Petruzzella","year":"1998","journal-title":"Genomics"},{"key":"10.1086\/345489_bib27","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1203\/00006450-200011000-00004","article-title":"Human cytochrome oxidase deficiency","volume":"48","author":"Robinson","year":"2000","journal-title":"Pediatr Res"},{"key":"10.1086\/345489_bib28","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/0076-6879(95)60137-6","article-title":"Native electrophoresis for isolation of mitochondrial oxidative phosphorylation protein complexes","volume":"260","author":"Schagger","year":"1995","journal-title":"Methods Enzymol"},{"key":"10.1086\/345489_bib29","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1002\/ajmg.1378","article-title":"Cytochrome c oxidase deficiency","volume":"106","author":"Shoubridge","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1086\/345489_bib30","doi-asserted-by":"crossref","first-page":"2277","DOI":"10.1093\/hmg\/10.20.2277","article-title":"Nuclear genetic defects of oxidative phosphorylation","volume":"10","author":"Shoubridge","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1086\/345489_bib31","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/0076-6879(69)13005-0","article-title":"Citrate synthase","volume":"13","author":"Srere","year":"1969","journal-title":"Methods Enzymol"},{"key":"10.1086\/345489_bib32","doi-asserted-by":"crossref","first-page":"2533","DOI":"10.1093\/hmg\/8.13.2533","article-title":"Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions","volume":"8","author":"Tiranti","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1086\/345489_bib33","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1086\/302150","article-title":"Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency","volume":"63","author":"Tiranti","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/345489_bib34","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1128\/MMBR.54.3.211-225.1990","article-title":"PET genes of Saccharomyces cerevisiae","volume":"54","author":"Tzagoloff","year":"1990","journal-title":"Microbiol Rev"},{"key":"10.1086\/345489_bib35","first-page":"593","article-title":"On the functions of the yeast COX10 and COX11 gene products","volume":"31","author":"Tzagoloff","year":"1993","journal-title":"Biochem Mol Biol Int"},{"key":"10.1086\/345489_bib36","first-page":"1104","article-title":"Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy","volume":"67","author":"Valnot","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/345489_bib37","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1093\/hmg\/9.8.1245","article-title":"A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency","volume":"9","author":"Valnot","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/345489_bib38","doi-asserted-by":"crossref","first-page":"2541","DOI":"10.1093\/hmg\/8.13.2541","article-title":"Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency","volume":"8","author":"Yao","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1086\/345489_bib39","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1002\/elps.1150181131","article-title":"Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels","volume":"18","author":"Zerbetto","year":"1997","journal-title":"Electrophoresis"},{"key":"10.1086\/345489_bib40","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/3804","article-title":"SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome","volume":"20","author":"Zhu","year":"1998","journal-title":"Nat Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707605084?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707605084?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,3]],"date-time":"2021-06-03T06:58:03Z","timestamp":1622703483000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707605084"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,1]]},"references-count":37,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,1]]}},"alternative-id":["S0002929707605084"],"URL":"https:\/\/doi.org\/10.1086\/345489","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2003,1]]}}}