{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T14:44:39Z","timestamp":1784904279841,"version":"3.55.0"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"13","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,7,1]]},"DOI":"10.1093\/hmg\/ddu054","type":"journal-article","created":{"date-parts":[[2014,2,6]],"date-time":"2014-02-06T03:41:37Z","timestamp":1391658097000},"page":"3456-3466","source":"Crossref","is-referenced-by-count":50,"title":["METTL23, a transcriptional partner of GABPA, is essential for human cognition"],"prefix":"10.1093","volume":"23","author":[{"given":"Rachel E.","family":"Reiff","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassam R.","family":"Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byron","family":"Baron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy W.","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salma","family":"Ben-Salem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"Coulter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian R.","family":"Schubert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Sean","family":"Hill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia A.","family":"Akawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Banan","family":"Al-Younes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Namik","family":"Kaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilad D.","family":"Evrony","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muna","family":"Al-Saffar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian M.","family":"Felie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer N.","family":"Partlow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M.","family":"Sunu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Schembri-Wismayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian F.","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher A.","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihadh","family":"Al-Gazali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ganeshwaran H.","family":"Mochida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,2,5]]},"reference":[{"key":"key\n\t\t\t\t20170829062358_DDU054C1","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/j.ridd.2010.12.018","article-title":"Prevalence of intellectual disability: a meta-analysis of population-based studies","volume":"32","author":"Maulik","year":"2011","journal-title":"Res. Dev. Disabil."},{"key":"key\n\t\t\t\t20170829062358_DDU054C2","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1469-8749.1997.tb07395.x","article-title":"The prevalence of mental retardation: a critical review of recent literature","volume":"39","author":"Roeleveld","year":"1997","journal-title":"Dev. Med. Child Neurol."},{"key":"key\n\t\t\t\t20170829062358_DDU054C3","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1007\/s11689-010-9055-2","article-title":"The genetic basis of non-syndromic intellectual disability: a review","volume":"2","author":"Kaufman","year":"2010","journal-title":"J. Neurodev. Disord."},{"key":"key\n\t\t\t\t20170829062358_DDU054C4","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1146\/annurev-genom-082509-141640","article-title":"Genetics of early onset cognitive impairment","volume":"11","author":"Ropers","year":"2010","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C5","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.gde.2006.04.017","article-title":"X-linked mental retardation: many genes for a complex disorder","volume":"16","author":"Ropers","year":"2006","journal-title":"Curr. Opin. Genet. Dev."},{"key":"key\n\t\t\t\t20170829062358_DDU054C6","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1111\/j.1399-0004.2012.01890.x","article-title":"Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability","volume":"83","author":"Hamdan","year":"2013","journal-title":"Clin. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C7","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1086\/380309","article-title":"Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation","volume":"6","author":"Schoichet","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C8","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1136\/jmg.2003.016972","article-title":"Zinc finger 81 (ZNF81) mutations assocated with X-linked mental retardation","volume":"5","author":"Kleefstra","year":"2004","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C9","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1086\/500306","article-title":"ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation","volume":"2","author":"Lugtenberg","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C10","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.ejmg.2012.11.001","article-title":"Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability","volume":"56","author":"Schanze","year":"2013","journal-title":"Eur. J. Med. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C11","doi-asserted-by":"crossref","first-page":"2365","DOI":"10.1093\/hmg\/9.16.2365","article-title":"Rett syndrome: a surprising result of mutation in MECP2","volume":"9","author":"Dragich","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C12","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1093\/hmg\/ddm341","article-title":"DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function","volume":"17","author":"Jin","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C13","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1038\/376348a0","article-title":"Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP","volume":"376","author":"Petrij","year":"1995","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170829062358_DDU054C14","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1016\/S0092-8674(00)82001-2","article-title":"The transcriptional coactivators p300 and CBP are histone acetyltransferases","volume":"87","author":"Ogryzko","year":"1996","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170829062358_DDU054C15","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.ajhg.2010.07.011","article-title":"Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems","volume":"87","author":"Williams","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C16","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1136\/jmg.2004.028464","article-title":"Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome","volume":"42","author":"Kleefstra","year":"2005","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C17","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1093\/hmg\/ddp480","article-title":"PHF8, a gene associated with cleft lip\/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase","volume":"19","author":"Loenarz","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C18","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1086\/427563","article-title":"Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation","volume":"76","author":"Jensen","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C19","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.ajhg.2012.02.007","article-title":"Haploinsufficiency of ARID1B, a member of the SWI\/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability","volume":"90","author":"Hoyer","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C20","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/0092-8674(95)90287-2","article-title":"Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)","volume":"80","author":"Gibbons","year":"1995","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170829062358_DDU054C21","doi-asserted-by":"crossref","first-page":"11361","DOI":"10.1074\/jbc.272.17.11361","article-title":"Characterization of the human thrombopoietin gene promoter. A possible role of an Ets transcription factor, E4TF1\/GABP","volume":"272","author":"Kamura","year":"1997","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170829062358_DDU054C22","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1042\/bj3310121","article-title":"Regulation of mitochondrial biogenesis in brown adipose tissue: nuclear respiratory factor-2\/GA-binding protein is responsible for the transcriptional regulation of the gene for the mitochondrial ATP synthase beta subunit","volume":"331","author":"Villena","year":"1998","journal-title":"Biochem. J."},{"key":"key\n\t\t\t\t20170829062358_DDU054C23","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1136\/jmg.2005.035709","article-title":"The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation","volume":"43","author":"Basel-Vanagaite","year":"2006","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C24","doi-asserted-by":"crossref","first-page":"e1003210","DOI":"10.1371\/journal.pgen.1003210","article-title":"A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity","volume":"9","author":"Cloutier","year":"2013","journal-title":"PLoS Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C25","doi-asserted-by":"crossref","first-page":"2109","DOI":"10.1007\/s00018-009-0010-x","article-title":"The protein arginine methyltransferase family: an update about function, new perspectives and the physiological role in humans","volume":"66","author":"Wolf","year":"2009","journal-title":"Cell Mol. Life Sci."},{"key":"key\n\t\t\t\t20170829062358_DDU054C26","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/j.cell.2012.03.028","article-title":"Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries","volume":"149","author":"Talkowski","year":"2012","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170829062358_DDU054C27","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1126\/science.279.5353.1037","article-title":"The structure of GABPalpha\/beta: an ETS domain- ankyrin repeat heterodimer bound to DNA","volume":"279","author":"Batchelor","year":"1998","journal-title":"Science"},{"key":"key\n\t\t\t\t20170829062358_DDU054C28","doi-asserted-by":"crossref","first-page":"2502","DOI":"10.1101\/gad.6.12b.2502","article-title":"Specificities of protein-protein and protein-DNA interaction of GABP alpha and two newly defined ets-related proteins","volume":"6","author":"Brown","year":"1992","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170829062358_DDU054C29","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.bcmd.2003.09.005","article-title":"GA-binding protein transcription factor: a review of GABP as an integrator of intracellular signaling and protein-protein interactions","volume":"32","author":"Rosmarin","year":"2004","journal-title":"Blood Cells Mol. Dis."},{"key":"key\n\t\t\t\t20170829062358_DDU054C30","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1006\/jmbi.2000.4335","article-title":"Sp1 and Sp3 physically interact and co-operate with GABP for the activation of the utrophin promoter","volume":"306","author":"Galvagni","year":"2001","journal-title":"J. Mol. Biol."},{"key":"key\n\t\t\t\t20170829062358_DDU054C31","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1182\/blood.V101.1.311","article-title":"GA-binding protein (GABP) and Sp1 are required, along with retinoid receptors, to mediate retinoic acid responsiveness of CD18 (beta 2 leukocyte integrin): a novel mechanism of transcriptional regulation in myeloid cells","volume":"101","author":"Bush","year":"2003","journal-title":"Blood"},{"key":"key\n\t\t\t\t20170829062358_DDU054C32","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1086\/429130","article-title":"Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease","volume":"76","author":"Roelfsema","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C33","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.bbadis.2004.09.005","article-title":"Tissue-specific overexpression of the HSA21 gene GABPalpha: implications for DS","volume":"1739","author":"O'Leary","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20170829062358_DDU054C34","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1002\/hipo.20904","article-title":"Seeing old friends from a different angle: novel properties of hematopoietic growth factors in the healthy and diseased brain","volume":"22","author":"Diederich","year":"2012","journal-title":"Hippocampus"},{"key":"key\n\t\t\t\t20170829062358_DDU054C35","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1111\/bpa.12002","article-title":"Downregulation of the expression of mitochondrial electron transport complex genes in autism brains","volume":"23","author":"Anitha","year":"2013","journal-title":"Brain Pathol."},{"key":"key\n\t\t\t\t20170829062358_DDU054C36","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1101\/gad.1068003","article-title":"Targeted recruitment of a histone H4-specific methyltransferase by the transcription factor YY1","volume":"17","author":"Rezai-Zadeh","year":"2003","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170829062358_DDU054C37","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1038\/sj.onc.1204998","article-title":"Molecular cloning of ESET, a novel histone H3-specific methyltransferase that interacts with ERG transcription factor","volume":"21","author":"Yang","year":"2002","journal-title":"Oncogene"},{"key":"key\n\t\t\t\t20170829062358_DDU054C38","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1038\/ncomms2041","article-title":"Lysine methylation of VCP by a member of a novel human protein methyltransferase family","volume":"3","author":"Kernstock","year":"2012","journal-title":"Nat. Commun."},{"key":"key\n\t\t\t\t20170829062358_DDU054C39","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C40","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng786","article-title":"Merlin\u2014rapid analysis of dense genetic maps using sparse gene flow trees","volume":"30","author":"Abecasis","year":"2002","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C41","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/ng.683","article-title":"Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecure","volume":"42","author":"Yu","year":"2010","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170829062358_DDU054C42","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170829062358_DDU054C43","first-page":"365","article-title":"Primer3 on the WWW for general users and for biologist programmers","volume":"132","author":"Rozen","year":"2000","journal-title":"Methods Mol. Biol."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/23\/13\/3456\/19638207\/ddu054.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,29]],"date-time":"2017-08-29T10:24:12Z","timestamp":1504002252000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/23\/13\/3456\/659667\/METTL23-a-transcriptional-partner-of-GABPA-is"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,5]]},"references-count":43,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2014,2,5]]},"published-print":{"date-parts":[[2014,7,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddu054","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2014,2,5]]}}}