{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T17:48:19Z","timestamp":1790790499378,"version":"4.1.0"},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2018,1,17]],"date-time":"2018-01-17T00:00:00Z","timestamp":1516147200000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/academic.oup.com\/journals\/pages\/about_us\/legal\/notices"}],"funder":[{"DOI":"10.13039\/100006108","name":"NCATS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"NCATS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008478","name":"INC","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"NINDS","doi-asserted-by":"publisher","award":["P01-HD08642"],"award-info":[{"award-number":["P01-HD08642"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"NICHD","doi-asserted-by":"publisher","award":["W-911F-15-1-0169"],"award-info":[{"award-number":["W-911F-15-1-0169"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000005","name":"Department of Defense","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,3,1]]},"DOI":"10.1093\/brain\/awx369","type":"journal-article","created":{"date-parts":[[2017,12,22]],"date-time":"2017-12-22T00:42:45Z","timestamp":1513903365000},"page":"662-672","source":"Crossref","is-referenced-by-count":61,"title":["SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency"],"prefix":"10.1093","volume":"141","author":[{"given":"Adriana P","family":"Rebelo","sequence":"first","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimah","family":"Saade","sequence":"additional","affiliation":[{"name":"Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia V","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Miami, Miami, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amjad","family":"Farooq","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Miami Miller School of Medicine, Miami, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyler C","family":"Huff","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Miami, Miami, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Abreu","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos T","family":"Moraes","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Miami, Miami, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Mnatsakanova","sequence":"additional","affiliation":[{"name":"Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy","family":"Mathews","sequence":"additional","affiliation":[{"name":"Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Columbia University Medical Center, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric A","family":"Schon","sequence":"additional","affiliation":[{"name":"Department of Neurology, Columbia University Medical Center, New York, USA"},{"name":"Department of Genetics and Development, Columbia University Medical Center, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E","family":"Shy","sequence":"additional","affiliation":[{"name":"Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,1,16]]},"reference":[{"key":"key\n\t\t\t\t20180614072829_awx369-B1","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1016\/j.str.2007.07.011","article-title":"A structural characterization of human SCO2","volume":"15","author":"Banci","year":"2007","journal-title":"Structure"},{"key":"key\n\t\t\t\t20180614072829_awx369-B2","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":"key\n\t\t\t\t20180614072829_awx369-B50","first-page":"958","article-title":"Ribbons 2.0. J Appl Crystallogr","volume":"24","author":"Carson","year":"1991"},{"key":"key\n\t\t\t\t20180614072829_awx369-B3","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1212\/WNL.0b013e3182a4a518","article-title":"SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease","volume":"81","author":"Echaniz-Laguna","year":"2013","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180614072829_awx369-B4","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1002\/humu.22305","article-title":"GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis","volume":"34","author":"Gonzalez","year":"2013","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20180614072829_awx369-B5","doi-asserted-by":"crossref","first-page":"34113","DOI":"10.1074\/jbc.M506801200","article-title":"Human Sco1 and Sco2 function as copper-binding proteins","volume":"280","author":"Horng","year":"2005","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20180614072829_awx369-B6","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/nrneurol.2010.180","article-title":"ATP7A-related copper transport diseases-emerging concepts and future trends","volume":"7","author":"Kaler","year":"2011","journal-title":"Nat Rev Neurol"},{"key":"key\n\t\t\t\t20180614072829_awx369-B7","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ajhg.2010.01.027","article-title":"Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy","volume":"86","author":"Kennerson","year":"2010","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180614072829_awx369-B8","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1002\/humu.22385","article-title":"Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis","volume":"34","author":"Leary","year":"2013","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20180614072829_awx369-B9","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.cmet.2006.12.001","article-title":"The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis","volume":"5","author":"Leary","year":"2007","journal-title":"Cell Metab"},{"key":"key\n\t\t\t\t20180614072829_awx369-B10","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1093\/hmg\/ddh197","article-title":"Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase","volume":"13","author":"Leary","year":"2004","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180614072829_awx369-B51","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1146\/annurev.biophys.29.1.291","article-title":"Comparative protein structure modeling of genes and genomes","volume":"29","author":"Marti-Renom","year":"2000","journal-title":"Annu Rev Biophys Biomol Struct"},{"key":"key\n\t\t\t\t20180614072829_awx369-B11","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":"key\n\t\t\t\t20180614072829_awx369-B12","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.ejpn.2009.09.008","article-title":"A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency","volume":"14","author":"Pronicki","year":"2010","journal-title":"Eur J Paediatr Neurol"},{"key":"key\n\t\t\t\t20180614072829_awx369-B13","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1097\/NEN.0000000000000085","article-title":"Lack of neuropathy-related phenotypes in hint1 knockout mice","volume":"73","author":"Seburn","year":"2014","journal-title":"J Neuropathol Exp Neurol"},{"key":"key\n\t\t\t\t20180614072829_awx369-B52","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/msb.2011.75","article-title":"Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega","volume":"7","author":"Sievers","year":"2011","journal-title":"Mol Syst Biol"},{"key":"key\n\t\t\t\t20180614072829_awx369-B14","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.bbabio.2011.09.005","article-title":"Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core","volume":"1817","author":"Soto","year":"2012","journal-title":"Biochim Biophys Acta"},{"key":"key\n\t\t\t\t20180614072829_awx369-B15","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1042\/BJ20050807","article-title":"Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1","volume":"392 (Pt 3)","author":"Stiburek","year":"2005","journal-title":"Biochem J"},{"key":"key\n\t\t\t\t20180614072829_awx369-B16","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/jns5.12066","article-title":"Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model","volume":"19","author":"Strickland","year":"2014","journal-title":"J Peripher Nerv Syst"},{"key":"key\n\t\t\t\t20180614072829_awx369-B17","doi-asserted-by":"crossref","first-page":"44","DOI":"10.3389\/fnagi.2013.00044","article-title":"Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis","volume":"5","author":"Telianidis","year":"2013","journal-title":"Front Aging Neurosci"},{"key":"key\n\t\t\t\t20180614072829_awx369-B18","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":"key\n\t\t\t\t20180614072829_awx369-B19","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1002\/mus.20631","article-title":"Motor neuron disease associated with copper deficiency","volume":"34","author":"Weihl","year":"2006","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20180614072829_awx369-B20","doi-asserted-by":"crossref","first-page":"15202","DOI":"10.1074\/jbc.M410705200","article-title":"Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase \u201cassembly\u201d protein","volume":"280","author":"Williams","year":"2005","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20180614072829_awx369-B21","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1093\/hmg\/ddp477","article-title":"Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2","volume":"19","author":"Yang","year":"2010","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180614072829_awx369-B22","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng1341","article-title":"Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A","volume":"36","author":"Zuchner","year":"2004","journal-title":"Nat Genet"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/141\/3\/662\/25046449\/awx369.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,8]],"date-time":"2019-10-08T09:06:42Z","timestamp":1570525602000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/141\/3\/662\/4812598"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,16]]},"references-count":25,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2018,1,16]]},"published-print":{"date-parts":[[2018,3,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awx369","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,3]]},"published":{"date-parts":[[2018,1,16]]}}}