{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:20:04Z","timestamp":1790889604533,"version":"4.1.0"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"15","funder":[{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["DFG; LO1555\/3-2 and FOR2488 to KL, FJK"],"award-info":[{"award-number":["DFG; LO1555\/3-2 and FOR2488 to KL, FJK"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,8,1]]},"DOI":"10.1093\/hmg\/ddx187","type":"journal-article","created":{"date-parts":[[2017,5,8]],"date-time":"2017-05-08T15:09:58Z","timestamp":1494256198000},"page":"2975-2983","source":"Crossref","is-referenced-by-count":14,"title":["Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression"],"prefix":"10.1093","volume":"26","author":[{"given":"Ronja","family":"Hollstein","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Reiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas","family":"K\u00f6tter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alev","family":"Richter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susen","family":"Schaake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank J.","family":"Kaiser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,5,9]]},"reference":[{"key":"key\n\t\t\t\t20170717073709_ddx187-B1","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/mds.26527","article-title":"Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force","volume":"31","year":"2016","journal-title":"Mov. Disord"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B2","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1016\/j.parkreldis.2012.02.001","article-title":"Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases","volume":"18","year":"2012","journal-title":"Parkinsonism Relat. Disord"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B3","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1002\/humu.21564","article-title":"DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene","volume":"32","year":"2011","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B4","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/ng.304","article-title":"Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia","volume":"41","year":"2009","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B5","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ejhg.2011.159","article-title":"Identification and functional analysis of novel THAP1 mutations","volume":"20","year":"2012","journal-title":"Eur. J. Hum. Genet"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B6","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1016\/j.bbagrm.2014.07.019","article-title":"THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression","volume":"1839","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B7","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1182\/blood-2006-03-012013","article-title":"The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB\/E2F cell-cycle target genes","volume":"109","year":"2007","journal-title":"Blood"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B8","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1002\/ana.22157","article-title":"The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)","volume":"68","year":"2010","journal-title":"Ann. Neurol"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B9","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1002\/ana.22138","article-title":"Direct interaction between causative genes of DYT1 and DYT6 primary dystonia","volume":"68","year":"2010","journal-title":"Ann. Neurol"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B10","doi-asserted-by":"crossref","first-page":"7159","DOI":"10.1093\/hmg\/ddv384","article-title":"Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia","volume":"24","year":"2015","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B11","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","year":"2010","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B12","doi-asserted-by":"crossref","first-page":"3466","DOI":"10.1093\/nar\/gkq053","article-title":"Structural determinants of specific DNA-recognition by the THAP zinc finger","volume":"38","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B13","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.jns.2014.06.012","article-title":"Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia","volume":"344","year":"2014","journal-title":"J. Neurol. Sci"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B14","doi-asserted-by":"crossref","first-page":"9927","DOI":"10.1093\/nar\/gks703","article-title":"Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1","volume":"40","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B15","doi-asserted-by":"crossref","first-page":"4229","DOI":"10.1002\/j.1460-2075.1989.tb08608.x","article-title":"The octamer-binding proteins form multi-protein\u2013DNA complexes with the HSV alpha TIF regulatory protein","volume":"8","year":"1989","journal-title":"embo J"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B16","doi-asserted-by":"crossref","first-page":"6871","DOI":"10.1093\/nar\/18.23.6871","article-title":"Characterization of a cellular factor which interacts functionally with Oct-1 in the assembly of a multicomponent transcription complex","volume":"18","year":"1990","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B17","doi-asserted-by":"crossref","first-page":"4974","DOI":"10.1128\/MCB.10.9.4974","article-title":"A cellular factor binds to the herpes simplex virus type 1 transactivator Vmw65 and is required for Vmw65-dependent protein-DNA complex assembly with Oct-1","volume":"10","year":"1990","journal-title":"Mol. Cell. Biol"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B18","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1101\/gad.11.6.726","article-title":"A single-point mutation in HCF causes temperature-sensitive cell-cycle arrest and disrupts VP16 function","volume":"11","year":"1997","journal-title":"Genes Dev"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B19","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/0092-8674(93)90299-6","article-title":"The VP16 accessory protein HCF is a family of polypeptides processed from a large precursor protein","volume":"74","year":"1993","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B20","doi-asserted-by":"crossref","first-page":"2445","DOI":"10.1101\/gad.9.20.2445","article-title":"The HCF repeat is an unusual proteolytic cleavage signal","volume":"9","year":"1995","journal-title":"Genes Dev"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B21","first-page":"469","article-title":"Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6","volume":"127","year":"2010","journal-title":"Hum. Genet"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B22","doi-asserted-by":"crossref","first-page":"2420","DOI":"10.1002\/mds.23285","article-title":"DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation","volume":"25","year":"2010","journal-title":"Mov. Disord"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B23","doi-asserted-by":"crossref","first-page":"1982","DOI":"10.1002\/mds.23207","article-title":"Prevalence of THAP1 sequence variants in German patients with primary dystonia","volume":"25","year":"2010","journal-title":"Mov. Disord"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B24","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature11247","article-title":"An integrated encyclopedia of DNA elements in the human genome","volume":"489","author":"ENCODE Project Consortium","year":"2012","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B25","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1086\/511888","article-title":"Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation","volume":"80","year":"2007","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B26","doi-asserted-by":"crossref","first-page":"6907","DOI":"10.1073\/pnas.0406882102","article-title":"The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity","volume":"102","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B27","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1038\/nsmb.1742","article-title":"THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor grooves","volume":"17","year":"2010","journal-title":"Nat. Struct. Mol. Biol"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B28","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/S0962-8924(00)01898-5","article-title":"Coiled coils: a highly versatile protein folding motif","volume":"11","year":"2001","journal-title":"Trends Cell Biol"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B29","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1038\/nature11245","article-title":"Architecture of the human regulatory network derived from ENCODE data","volume":"489","year":"2012","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B30","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.ajhg.2013.07.022","article-title":"An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1","volume":"93","year":"2013","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B31","doi-asserted-by":"crossref","first-page":"3185","DOI":"10.1038\/emboj.2009.258","article-title":"E2F1 mediates DNA damage and apoptosis through HCF-1 and the MLL family of histone methyltransferases","volume":"28","year":"2009","journal-title":"embo J"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B32","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1016\/j.cell.2008.05.047","article-title":"Ronin is essential for embryogenesis and the pluripotency of mouse embryonic stem cells","volume":"133","year":"2008","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B33","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","year":"2013","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B34","doi-asserted-by":"crossref","first-page":"82.","DOI":"10.1186\/s13059-016-0925-0","article-title":"ChromNet: Learning the human chromatin network from all ENCODE ChIP-seq data","volume":"17","year":"2016","journal-title":"Genome Biol"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B35","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.ejmg.2014.12.015","article-title":"Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder","volume":"58","year":"2015","journal-title":"Eur. J. Med. Genet"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B36","doi-asserted-by":"crossref","first-page":"3335","DOI":"10.1093\/hmg\/ddv083","article-title":"HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain","volume":"24","year":"2015","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B37","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1093\/bioinformatics\/btq033","article-title":"BEDTools: a flexible suite of utilities for comparing genomic features","volume":"26","year":"2010","journal-title":"Bioinformatics (Oxford, England)"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B38","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/nmeth.1906","article-title":"ChromHMM: automating chromatin-state discovery and characterization","volume":"9","year":"2012","journal-title":"Nat. Methods"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B39","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1101\/gr.229102","article-title":"The human genome browser at UCSC","volume":"12","year":"2002","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t20170717073709_ddx187-B40","doi-asserted-by":"crossref","first-page":"D493","DOI":"10.1093\/nar\/gkh103","article-title":"The UCSC Table Browser data retrieval tool","volume":"32","year":"2004","journal-title":"Nucleic Acids Res"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/26\/15\/2975\/18757425\/ddx187.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,23]],"date-time":"2019-09-23T17:59:25Z","timestamp":1569261565000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddx187"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,9]]},"references-count":40,"journal-issue":{"issue":"15","published-online":{"date-parts":[[2017,5,9]]},"published-print":{"date-parts":[[2017,8,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddx187","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,5,9]]}}}