{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T20:45:05Z","timestamp":1780778705878,"version":"3.54.1"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,5,15]]},"DOI":"10.1093\/hmg\/ddm072","type":"journal-article","created":{"date-parts":[[2007,4,3]],"date-time":"2007-04-03T00:39:59Z","timestamp":1175560799000},"page":"1241-1252","source":"Crossref","is-referenced-by-count":156,"title":["Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy"],"prefix":"10.1093","volume":"16","author":[{"given":"Erika","family":"Fernandez-Vizarra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianna","family":"Bugiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Goffrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Carrara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Farina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Procopio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Donati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graziella","family":"Uziel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iliana","family":"Ferrero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2007,4,2]]},"reference":[{"key":"key\n\t\t\t\t20171012165457_DDM072C1","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1126\/science.281.5373.64","article-title":"Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex","volume":"281","author":"Iwata","year":"1998","journal-title":"Science"},{"key":"key\n\t\t\t\t20171012165457_DDM072C2","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1056\/NEJM199909303411404","article-title":"Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA","volume":"341","author":"Andreu","year":"1999","journal-title":"N. Eng. J. Med."},{"key":"key\n\t\t\t\t20171012165457_DDM072C3","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/ng706","article-title":"A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure","volume":"29","author":"de Lonlay","year":"2001","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012165457_DDM072C4","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1086\/342773","article-title":"GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L","volume":"71","author":"Visapaa","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20171012165457_DDM072C5","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1002\/ajmg.a.20171","article-title":"Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene","volume":"121","author":"De Meirleir","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20171012165457_DDM072C6","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1007\/s00439-003-0946-0","article-title":"A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis","volume":"113","author":"Haut","year":"2003","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20171012165457_DDM072C7","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":"key\n\t\t\t\t20171012165457_DDM072C8","doi-asserted-by":"crossref","first-page":"3821","DOI":"10.1002\/j.1460-2075.1992.tb05474.x","article-title":"BCS1, a novel gene required for the expression of functional Rieske iron-sulfur protein in Saccharomyces cerevisiae","volume":"11","author":"Nobrega","year":"1992","journal-title":"Embo J."},{"key":"key\n\t\t\t\t20171012165457_DDM072C9","doi-asserted-by":"crossref","first-page":"5226","DOI":"10.1093\/emboj\/18.19.5226","article-title":"Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex","volume":"18","author":"Cruciat","year":"1999","journal-title":"Embo J."},{"key":"key\n\t\t\t\t20171012165457_DDM072C10","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1006\/bcmd.2002.0582","article-title":"The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload","volume":"29","author":"Fellman","year":"2002","journal-title":"Blood Cells Mol. Dis."},{"key":"key\n\t\t\t\t20171012165457_DDM072C11","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1093\/hmg\/ddl141","article-title":"Respiratory chain supercomplexes set the threshold for respiration defects in human mtDNA mutant cybrids","volume":"15","author":"D'Aurelio","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20171012165457_DDM072C12","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/j.modgep.2006.09.005","article-title":"BCS1L is expressed in critical regions for neural development during ontogenesis in mice","volume":"7","author":"Kotarsky","year":"2007","journal-title":"Gene Expr. Patterns"},{"key":"key\n\t\t\t\t20171012165457_DDM072C13","doi-asserted-by":"crossref","first-page":"2239","DOI":"10.1128\/MCB.23.7.2239-2250.2003","article-title":"Mitochondrial protein import: recognition of internal import signals of BCS1 by the TOM complex","volume":"23","author":"Stan","year":"2003","journal-title":"Mol. Cell. Biol."},{"key":"key\n\t\t\t\t20171012165457_DDM072C14","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1002\/j.1460-2075.1996.tb00380.x","article-title":"Internal targeting signal of the BCS1 protein: a novel mechanism of import into mitochondria","volume":"15","author":"F\u00f6lsch","year":"1996","journal-title":"Embo J."},{"key":"key\n\t\t\t\t20171012165457_DDM072C15","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1111\/j.1432-1033.2004.04024.x","article-title":"Further insights into the assembly of the yeast cytochrome bc1 complex based on analysis of single and double deletion mutants lacking supernumerary subunits and cytochrome b","volume":"271","author":"Zara","year":"2004","journal-title":"Eur. J. Biochem."},{"key":"key\n\t\t\t\t20171012165457_DDM072C16","doi-asserted-by":"crossref","first-page":"18093","DOI":"10.1074\/jbc.M001901200","article-title":"The cytochrome bc1 and cytochrome c oxidase complexes associate to form a single supracomplex in yeast mitochondria","volume":"275","author":"Cruciat","year":"2000","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20171012165457_DDM072C17","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1093\/emboj\/19.8.1777","article-title":"Supercomplexes in the respiratory chains of yeast and mammalian mitochondria","volume":"19","author":"Sch\u00e4gger","year":"2000","journal-title":"Embo J."},{"key":"key\n\t\t\t\t20171012165457_DDM072C18","doi-asserted-by":"crossref","first-page":"37861","DOI":"10.1074\/jbc.M106474200","article-title":"The ratio of oxidative phosphorylation complexes I\u2013V in bovine heart mitochondria and the composition of respiratory chain supercomplexes","volume":"276","author":"Sch\u00e4gger","year":"2001","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20171012165457_DDM072C19","doi-asserted-by":"crossref","first-page":"15370","DOI":"10.1074\/jbc.M513525200","article-title":"Architecture of active mammalian respiratory chain supercomplexes","volume":"281","author":"Sch\u00e4fer","year":"2006","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20171012165457_DDM072C20","doi-asserted-by":"crossref","first-page":"36349","DOI":"10.1074\/jbc.M404033200","article-title":"Significance of respirasomes for the assembly\/stability of human respiratory chain complex I","volume":"279","author":"Sch\u00e4gger","year":"2004","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20171012165457_DDM072C21","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":"key\n\t\t\t\t20171012165457_DDM072C22","doi-asserted-by":"crossref","first-page":"4872","DOI":"10.1128\/MCB.01767-05","article-title":"Cytochrome c oxidase is required for the assembly\/stability of respiratory complex I in mouse fibroblasts","volume":"26","author":"Diaz","year":"2006","journal-title":"Mol. Cell. Biol."},{"key":"key\n\t\t\t\t20171012165457_DDM072C23","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1038\/nrm1684","article-title":"AAA+ proteins: have engine, will work","volume":"6","author":"Hanson","year":"2005","journal-title":"Nat. Rev. Mol. Cell. Biol."},{"key":"key\n\t\t\t\t20171012165457_DDM072C24","doi-asserted-by":"crossref","first-page":"F13","DOI":"10.1083\/jcb.150.1.F13","article-title":"AAA proteins. Lords of the ring","volume":"150","author":"Vale","year":"2000","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t20171012165457_DDM072C25","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1046\/j.1365-2443.2001.00447.x","article-title":"AAA+ superfamily ATPases: common structure\u2013diverse function","volume":"6","author":"Ogura","year":"2001","journal-title":"Genes Cells"},{"key":"key\n\t\t\t\t20171012165457_DDM072C26","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.bbabio.2004.09.006","article-title":"Clinical and molecular findings in children with complex I deficiency","volume":"1659","author":"Bugiani","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20171012165457_DDM072C27","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/S0076-6879(02)50957-5","article-title":"Transformation of yeast by lithium acetate\/single-stranded carrier DNA\/polyethylene glycol method","volume":"350","author":"Gietz","year":"2002","journal-title":"Methods Enzymol."},{"key":"key\n\t\t\t\t20171012165457_DDM072C28","volume-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook","year":"2001"},{"key":"key\n\t\t\t\t20171012165457_DDM072C29","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1093\/hmg\/ddh108","article-title":"Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability","volume":"13","author":"Fontanesi","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20171012165457_DDM072C30","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/S1046-2023(02)00038-5","article-title":"Blue Native electrophoresis to study mitochondrial and other protein complexes","volume":"26","author":"Nijtmans","year":"2002","journal-title":"Methods"},{"key":"key\n\t\t\t\t20171012165457_DDM072C31","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/0003-2697(87)90587-2","article-title":"Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100\u00a0kDa","volume":"166","author":"Sch\u00e4gger","year":"1987","journal-title":"Anal. Biochem."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/16\/10\/1241\/1749904\/ddm072.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T02:39:36Z","timestamp":1628735976000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/16\/10\/1241\/628176\/Impaired-complex-III-assembly-associated-with"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,4,2]]},"references-count":31,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2007,4,2]]},"published-print":{"date-parts":[[2007,5,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddm072","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published-other":{"date-parts":[[2007,5,15]]},"published":{"date-parts":[[2007,4,2]]}}}