{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:09:59Z","timestamp":1791266999659,"version":"4.1.0"},"reference-count":36,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2013,9,1]],"date-time":"2013-09-01T00:00:00Z","timestamp":1377993600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,9,1]],"date-time":"2013-09-01T00:00:00Z","timestamp":1377993600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2014,3,5]],"date-time":"2014-03-05T00:00:00Z","timestamp":1393977600000},"content-version":"vor","delay-in-days":185,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2013,9]]},"DOI":"10.1016\/j.ajhg.2013.07.022","type":"journal-article","created":{"date-parts":[[2013,9,5]],"date-time":"2013-09-05T11:46:49Z","timestamp":1378381609000},"page":"506-514","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":124,"title":["An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1"],"prefix":"10.1016","volume":"93","author":[{"given":"Hung-Chun","family":"Yu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer\u00a0L.","family":"Sloan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunter","family":"Scharer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Brebner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita\u00a0M.","family":"Quintana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan\u00a0P.","family":"Achilly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irini","family":"Manoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"II","given":"Curtis\u00a0R.","family":"Coughlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth\u00a0A.","family":"Geiger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Una","family":"Schneck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Watkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terttu","family":"Suormala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan\u00a0L.K.","family":"Van\u00a0Hove","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Fowler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias\u00a0R.","family":"Baumgartner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David\u00a0S.","family":"Rosenblatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles\u00a0P.","family":"Venditti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamim\u00a0H.","family":"Shaikh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2013.07.022_bib1","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1002\/ajmg.c.30288","article-title":"Inborn errors of cobalamin absorption and metabolism","volume":"157","author":"Watkins","year":"2011","journal-title":"Am. J. Med. Genet. C. Semin. Med. Genet."},{"key":"10.1016\/j.ajhg.2013.07.022_bib2","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1002\/humu.21001","article-title":"Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations","volume":"30","author":"Lerner-Ellis","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2013.07.022_bib3","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s10545-010-9161-z","article-title":"Cobalamin C defect: natural history, pathophysiology, and treatment","volume":"34","author":"Martinelli","year":"2011","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ajhg.2013.07.022_bib4","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s10545-011-9364-y","article-title":"Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management","volume":"35","author":"Carrillo-Carrasco","year":"2012","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ajhg.2013.07.022_bib5","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s10545-011-9365-x","article-title":"Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes","volume":"35","author":"Carrillo-Carrasco","year":"2012","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ajhg.2013.07.022_bib6","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1056\/NEJMoa072200","article-title":"Gene identification for the cblD defect of vitamin B12 metabolism","volume":"358","author":"Coelho","year":"2008","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2013.07.022_bib7","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/ng.294","article-title":"Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism","volume":"41","author":"Rutsch","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.07.022_bib8","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1038\/ng.2386","article-title":"Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism","volume":"44","author":"Coelho","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.07.022_bib9","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/ng1683","article-title":"Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type","volume":"38","author":"Lerner-Ellis","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.07.022_bib10","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1101\/gad.1935210","article-title":"Ronin\/Hcf-1 binds to a hyperconserved enhancer element and regulates genes involved in the growth of embryonic stem cells","volume":"24","author":"Dejosez","year":"2010","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2013.07.022_bib11","doi-asserted-by":"crossref","first-page":"1654","DOI":"10.1128\/MCB.06033-11","article-title":"A transcriptional regulatory role of the THAP11-HCF-1 complex in colon cancer cell function","volume":"32","author":"Parker","year":"2012","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2013.07.022_bib12","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2013.07.022_bib13","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/nbt.1754","article-title":"Integrative genomics viewer","volume":"29","author":"Robinson","year":"2011","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ajhg.2013.07.022_bib14","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2013.07.022_bib15","doi-asserted-by":"crossref","first-page":"R86","DOI":"10.1186\/gb-2010-11-8-r86","article-title":"Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences","volume":"11","author":"Goecks","year":"2010","journal-title":"Genome Biol."},{"issue":"Web Server issue","key":"10.1016\/j.ajhg.2013.07.022_bib16","doi-asserted-by":"crossref","first-page":"W695","DOI":"10.1093\/nar\/gkq313","article-title":"A new bioinformatics analysis tools framework at EMBL-EBI","volume":"38","author":"Goujon","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2013.07.022_bib17","first-page":"6","article-title":"Comparative protein structure modeling using Modeller","volume":"Chapter 5","author":"Eswar","year":"2006","journal-title":"Curr. Protoc. Bioinformatics"},{"issue":"Web Server issue","key":"10.1016\/j.ajhg.2013.07.022_bib18","doi-asserted-by":"crossref","first-page":"W576","DOI":"10.1093\/nar\/gkq535","article-title":"CPHmodels-3.0\u2014remote homology modeling using structure-guided sequence profiles","volume":"38","author":"Nielsen","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2013.07.022_bib19","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera\u2014a visualization system for exploratory research and analysis","volume":"25","author":"Pettersen","year":"2004","journal-title":"J.\u00a0Comput. Chem."},{"key":"10.1016\/j.ajhg.2013.07.022_bib20","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1101\/gr.229102","article-title":"The human genome browser at UCSC","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2013.07.022_bib21","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/S0168-9525(00)02024-2","article-title":"EMBOSS: the European Molecular Biology Open Software Suite","volume":"16","author":"Rice","year":"2000","journal-title":"Trends Genet."},{"key":"10.1016\/j.ajhg.2013.07.022_bib22","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1038\/ng.908","article-title":"Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria","volume":"43","author":"Sloan","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.07.022_bib23","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1016\/j.ajhg.2012.08.011","article-title":"A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability","volume":"91","author":"Huang","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.022_bib24","doi-asserted-by":"crossref","first-page":"6721","DOI":"10.1128\/MCB.20.18.6721-6730.2000","article-title":"HCF-1 amino- and carboxy-terminal subunit association through two separate sets of interaction modules: involvement of fibronectin type 3 repeats","volume":"20","author":"Wilson","year":"2000","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2013.07.022_bib25","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.ymgme.2005.07.020","article-title":"Genetic and genomic systems to study methylmalonic acidemia","volume":"86","author":"Chandler","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ajhg.2013.07.022_bib26","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/350087a0","article-title":"Novel thioether bond revealed by a 1.7 A crystal structure of galactose oxidase","volume":"350","author":"Ito","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.07.022_bib27","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0962-8924(99)01673-6","article-title":"The kelch repeat superfamily of proteins: propellers of cell function","volume":"10","author":"Adams","year":"2000","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.ajhg.2013.07.022_bib28","doi-asserted-by":"crossref","first-page":"5117","DOI":"10.1128\/MCB.17.9.5117","article-title":"Luman, a new member of the CREB\/ATF family, binds to herpes simplex virus VP16-associated host cellular factor","volume":"17","author":"Lu","year":"1997","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2013.07.022_bib29","doi-asserted-by":"crossref","first-page":"3122","DOI":"10.1101\/gad.11.23.3122","article-title":"Viral mimicry: common mode of association with HCF by VP16 and the cellular protein LZIP","volume":"11","author":"Freiman","year":"1997","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2013.07.022_bib30","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.molcel.2007.05.030","article-title":"E2F activation of S phase promoters via association with HCF-1 and the MLL family of histone H3K4 methyltransferases","volume":"27","author":"Tyagi","year":"2007","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2013.07.022_bib31","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s11010-006-9122-x","article-title":"Host cell factor-1 and E2F4 interact via multiple determinants in each protein","volume":"288","author":"Knez","year":"2006","journal-title":"Mol. Cell. Biochem."},{"key":"10.1016\/j.ajhg.2013.07.022_bib32","doi-asserted-by":"crossref","first-page":"34179","DOI":"10.1074\/jbc.M109.046755","article-title":"The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1","volume":"284","author":"Machida","year":"2009","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.07.022_bib33","doi-asserted-by":"crossref","first-page":"13364","DOI":"10.1074\/jbc.M109.072579","article-title":"The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias","volume":"285","author":"Mazars","year":"2010","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.07.022_bib34","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1101\/gad.252103","article-title":"Human Sin3 deacetylase and trithorax-related Set1\/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1","volume":"17","author":"Wysocka","year":"2003","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2013.07.022_bib35","doi-asserted-by":"crossref","first-page":"5071","DOI":"10.1128\/MCB.00396-10","article-title":"The ubiquitin carboxyl hydrolase BAP1 forms\u00a0a ternary complex with YY1 and HCF-1 and is a critical\u00a0regulator of gene expression","volume":"30","author":"Yu","year":"2010","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2013.07.022_bib36","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1101\/gr.150078.112","article-title":"HCFC1 is a common component of active human CpG-island promoters and coincides with ZNF143, THAP11, YY1, and GABP transcription factor occupancy","volume":"23","author":"Michaud","year":"2013","journal-title":"Genome Res."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292971300342X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292971300342X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:13:23Z","timestamp":1757574803000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292971300342X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9]]},"references-count":36,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["S000292971300342X"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.07.022","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2013,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.07.022","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}