{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T02:34:10Z","timestamp":1791340450510,"version":"4.3.1"},"reference-count":17,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2006,12,1]],"date-time":"2006-12-01T00:00:00Z","timestamp":1164931200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2006,12,1]],"date-time":"2006-12-01T00:00:00Z","timestamp":1164931200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":2422,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["HD26202"],"award-info":[{"award-number":["HD26202"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001241","name":"State Library of New South Wales","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001241","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2006,12]]},"DOI":"10.1086\/510137","type":"journal-article","created":{"date-parts":[[2006,11,13]],"date-time":"2006-11-13T19:10:13Z","timestamp":1163445013000},"page":"1119-1124","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":112,"title":["Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation"],"prefix":"10.1016","volume":"79","author":[{"given":"Patrick S.","family":"Tarpey","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Stevens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon","family":"Teague","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Edkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"O\u2019Meara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Avis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syd","family":"Barthorpe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gemma","family":"Buck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Butler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Cole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ed","family":"Dicks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristian","family":"Gray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Halliday","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Harrison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katy","family":"Hills","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathon","family":"Hinton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Menzies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana","family":"Mironenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Perry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiran","family":"Raine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Richardson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Shepherd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Small","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Calli","family":"Tofts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Varian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofie","family":"West","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Widaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andy","family":"Yates","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachael","family":"Catford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Butler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uma","family":"Mallya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Moon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huw","family":"Dorkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas F.","family":"Easton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Wooster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Bobrow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Simensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles E.","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger E.","family":"Stevenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gillian","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Partington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Gecz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Stratton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. Andrew","family":"Futreal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. Lucy","family":"Raymond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/510137_bib4","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/0092-8674(91)90397-H","article-title":"Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome","volume":"65","author":"Verkerk","year":"1991","journal-title":"Cell"},{"key":"10.1086\/510137_bib5","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/nrg1501","article-title":"X-linked mental retardation","volume":"6","author":"Ropers","year":"2005","journal-title":"Nat Rev Genet"},{"key":"10.1086\/510137_bib6","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1038\/sj.ejhg.5201595","article-title":"Genetics and pathophysiology of mental retardation","volume":"14","author":"Chelly","year":"2006","journal-title":"Eur J Hum Genet"},{"issue":"Suppl 2","key":"10.1086\/510137_bib7","doi-asserted-by":"crossref","first-page":"R110","DOI":"10.1093\/hmg\/ddl189","article-title":"The genetics of mental retardation","volume":"15","author":"Raymond","year":"2006","journal-title":"Hum Mol Genet"},{"key":"10.1086\/510137_bib8","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1002\/ajmg.a.10005","article-title":"Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22","volume":"117","author":"Turner","year":"2003","journal-title":"Am J Med Genet A"},{"key":"10.1086\/510137_bib9","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1002\/(SICI)1096-8628(19990730)85:3<266::AID-AJMG16>3.0.CO;2-P","article-title":"Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2","volume":"85","author":"Carpenter","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1086\/510137_bib10","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/nrm1786","article-title":"Life of a clathrin coat: insights from clathrin and AP structures","volume":"7","author":"Edeling","year":"2006","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1086\/510137_bib11","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1083\/jcb.135.3.635","article-title":"In vivo phosphorylation of adaptors regulates their interaction with clathrin","volume":"135","author":"Wilde","year":"1996","journal-title":"J Cell Biol"},{"key":"10.1086\/510137_bib12","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1006\/mcne.2002.1191","article-title":"Interaction of synaptophysin with the AP-1 adaptor protein \u03b3-adaptin","volume":"21","author":"Horikawa","year":"2002","journal-title":"Mol Cell Neurosci"},{"key":"10.1086\/510137_bib13","doi-asserted-by":"crossref","first-page":"12580","DOI":"10.1074\/jbc.M310681200","article-title":"The vesicular acetylcholine transporter interacts with clathrin-associated adaptor complexes AP-1 and AP-2","volume":"279","author":"Kim","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1086\/510137_bib14","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.cub.2006.02.058","article-title":"Altered synaptic development and active zone spacing in endocytosis mutants","volume":"16","author":"Dickman","year":"2006","journal-title":"Curr Biol"},{"key":"10.1086\/510137_bib15","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1242\/jcs.114.2.353","article-title":"Expression of auxilin or AP180 inhibits endocytosis by mislocalizing clathrin: evidence for formation of nascent pits containing AP1 or AP2 but not clathrin","volume":"114","author":"Zhao","year":"2001","journal-title":"J Cell Sci"},{"key":"10.1086\/510137_bib16","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1038\/ncb990","article-title":"NMDA receptor trafficking through an interaction between PDZ proteins and the exocyst complex","volume":"5","author":"Sans","year":"2003","journal-title":"Nat Cell Biol"},{"key":"10.1086\/510137_bib17","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1136\/jmg.2003.013680","article-title":"Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy","volume":"41","author":"Garcia","year":"2004","journal-title":"J Med Genet"},{"key":"10.1086\/510137_bib18","doi-asserted-by":"crossref","first-page":"40996","DOI":"10.1074\/jbc.M509394200","article-title":"The modular adaptor protein autosomal recessive hypercholesterolemia (ARH) promotes low density lipoprotein receptor clustering into clathrin-coated pits","volume":"280","author":"Garuti","year":"2005","journal-title":"J Biol Chem"},{"key":"10.1086\/510137_bib19","doi-asserted-by":"crossref","first-page":"38416","DOI":"10.1074\/jbc.M504343200","article-title":"Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL\/LDL receptor complex in hepatocytes","volume":"280","author":"Sirinian","year":"2005","journal-title":"J Biol Chem"},{"key":"10.1086\/510137_bib20","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1182\/blood-2005-11-4377","article-title":"Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2","volume":"108","author":"Jung","year":"2006","journal-title":"Blood"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707634752?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707634752?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:14:38Z","timestamp":1762078478000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707634752"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["S0002929707634752"],"URL":"https:\/\/doi.org\/10.1086\/510137","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2006,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1086\/510137","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2006 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}