{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T08:04:29Z","timestamp":1774598669511,"version":"3.50.1"},"reference-count":16,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,9,30]],"date-time":"2018-09-30T00:00:00Z","timestamp":1538265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genes & Diseases"],"published-print":{"date-parts":[[2019,3]]},"DOI":"10.1016\/j.gendis.2018.09.005","type":"journal-article","created":{"date-parts":[[2018,10,5]],"date-time":"2018-10-05T00:00:46Z","timestamp":1538697646000},"page":"31-34","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Structural investigation of Rett-inducing MeCP2 mutations"],"prefix":"10.1016","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0263-7107","authenticated-orcid":false,"given":"Ottavia","family":"Spiga","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Gardini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vittoria","family":"Cicaloni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Pettini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neri","family":"Niccolai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6976-9086","authenticated-orcid":false,"given":"Annalisa","family":"Santucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gendis.2018.09.005_bib1","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2","volume":"23","author":"Amir","year":"1999","journal-title":"Nat Genet"},{"issue":"5","key":"10.1016\/j.gendis.2018.09.005_bib2","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1016\/j.cell.2013.01.038","article-title":"An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders","volume":"152","author":"Baker","year":"2013","journal-title":"Cell"},{"key":"10.1016\/j.gendis.2018.09.005_bib3","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/978-3-319-53889-1_1","article-title":"MeCP2. A modulator of neuronal chromatin organization involved in Rett syndrome","volume":"978","author":"Mart\u00ednez de Paz","year":"2017","journal-title":"Adv Exp Med Biol"},{"issue":"1","key":"10.1016\/j.gendis.2018.09.005_bib4","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.bbrc.2017.10.169","article-title":"Biophysical characterization of the basic cluster in the transcription repression domain of human MeCP2 with AT-rich DNA","volume":"495","author":"Mushtaq","year":"2018","journal-title":"Biochem Biophys Res Commun"},{"issue":"1","key":"10.1016\/j.gendis.2018.09.005_bib5","doi-asserted-by":"crossref","DOI":"10.4161\/idp.24360","article-title":"The alphabet of intrinsic disorder: I. Act like a Pro: on the abundance and roles of proline residues in intrinsically disordered proteins","volume":"1","author":"Theillet","year":"2013","journal-title":"Intrinsically Disord Proteins"},{"key":"10.1016\/j.gendis.2018.09.005_bib6","doi-asserted-by":"crossref","first-page":"5188","DOI":"10.2741\/3594","article-title":"Intrinsic disorder in proteins associated with neurodegenerative diseases","volume":"14","author":"Uversky","year":"2009","journal-title":"Front Biosci (Landmark Ed)."},{"issue":"8","key":"10.1016\/j.gendis.2018.09.005_bib7","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1002\/humu.23263","article-title":"RettBASE: Rett syndrome database update","volume":"38","author":"Krishnaraj","year":"2017","journal-title":"Hum Mutat"},{"key":"10.1016\/j.gendis.2018.09.005_bib8","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1093\/nar\/28.1.235","article-title":"The protein data bank","volume":"28","author":"Berman","year":"2000","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.gendis.2018.09.005_bib9","first-page":"82","article-title":"Pymol: An open-source molecular graphics tool","volume":"40","author":"DeLano","year":"2002","journal-title":"CCP4 Newsl Protein Crystallogr"},{"key":"10.1016\/j.gendis.2018.09.005_bib10","doi-asserted-by":"crossref","first-page":"D158","DOI":"10.1093\/nar\/gkw1099","article-title":"The UniProt Consortium UniProt: the universal protein knowledgebase","volume":"45","year":"2017","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"10.1016\/j.gendis.2018.09.005_bib11","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1039\/C7MB00071E","article-title":"A structural bioinformatics investigation on protein-DNA complexes delineates their modes of interaction","volume":"13","author":"Gardini","year":"2017","journal-title":"Mol Biosyst"},{"key":"10.1016\/j.gendis.2018.09.005_bib12","doi-asserted-by":"crossref","first-page":"31210","DOI":"10.1038\/srep31210","article-title":"A\/T run geometry of B-form DNA is independent of bound methyl-CpG binding domain, cytosine methylation and flanking sequence","volume":"6","author":"Chia","year":"2016","journal-title":"Sci Rep"},{"issue":"3","key":"10.1016\/j.gendis.2018.09.005_bib13","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1016\/j.jmb.2007.05.022","article-title":"Inference of macromolecular assemblies from crystalline state","volume":"372","author":"Krissinel","year":"2007","journal-title":"J Mol Biol"},{"issue":"1","key":"10.1016\/j.gendis.2018.09.005_bib14","doi-asserted-by":"crossref","DOI":"10.2217\/fnl.12.79","article-title":"Recent progress in Rett syndrome and MeCP2 dysfunction: assessment of potential treatment options","volume":"8","author":"Chapleau","year":"2013","journal-title":"Future Neurol"},{"issue":"12","key":"10.1016\/j.gendis.2018.09.005_bib15","doi-asserted-by":"crossref","first-page":"4596","DOI":"10.1073\/pnas.1311141111","article-title":"Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome","volume":"111","author":"Khwaja","year":"2014","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"10.1016\/j.gendis.2018.09.005_bib16","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.ajhg.2017.06.012","article-title":"Human germline genome editing","volume":"101","author":"Ormond","year":"2017","journal-title":"Am J Hum Genet"}],"container-title":["Genes & Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352304218300692?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352304218300692?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T17:23:55Z","timestamp":1762449835000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352304218300692"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["S2352304218300692"],"URL":"https:\/\/doi.org\/10.1016\/j.gendis.2018.09.005","relation":{},"ISSN":["2352-3042"],"issn-type":[{"value":"2352-3042","type":"print"}],"subject":[],"published":{"date-parts":[[2019,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Structural investigation of Rett-inducing MeCP2 mutations","name":"articletitle","label":"Article Title"},{"value":"Genes & Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gendis.2018.09.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Chongqing Medical University. Production and hosting by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}