{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T06:46:48Z","timestamp":1793170008200,"version":"4.5.0"},"reference-count":74,"publisher":"Society for Neuroscience","issue":"4","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"vor","delay-in-days":184,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"}],"funder":[{"DOI":"10.13039\/100015503","name":"Lieber Institute for Brain Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015503","id-type":"DOI","asserted-by":"publisher"}]},{"name":"MGH Collaborative Center for X-Linded Dystonia Parkinsonism"},{"DOI":"10.13039\/100012443","name":"Maryland Stem Cell Research Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012443","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Institute of Health","award":["T32MH015330"],"award-info":[{"award-number":["T32MH015330"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["eNeuro"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    X-linked dystonia-parkinsonism (XDP) is an inherited, X-linked, adult-onset movement disorder characterized by degeneration in the neostriatum. No therapeutics alter disease progression. The mechanisms underlying regional differences in degeneration and adult onset are unknown. Developing therapeutics requires a deeper understanding of how XDP-relevant features vary in health and disease. XDP is possibly due, in part, to a partial loss of\n                    <jats:italic>TAF1<\/jats:italic>\n                    function. A disease-specific SINE-VNTR-Alu (SVA) retrotransposon insertion occurs within intron 32 of\n                    <jats:italic>TAF1<\/jats:italic>\n                    , a subunit of TFIID involved in transcription initiation. While all XDP males are usually clinically affected, females are heterozygous carriers generally not manifesting the full syndrome. As a resource for disease modeling, we characterized eight iPSC lines from three XDP female carrier individuals for X chromosome inactivation (XCI) status and identified clonal lines that express either the wild-type X or XDP haplotype. Furthermore, we characterized XDP-relevant transcript expression in neurotypical humans, and found that SVA-F expression decreases after 30\u2009years of age in the brain and that\n                    <jats:italic>TAF1<\/jats:italic>\n                    is decreased in most female samples. Uniquely in the caudate nucleus,\n                    <jats:italic>TAF1<\/jats:italic>\n                    expression is not sexually dimorphic and decreased after adolescence. These findings indicate that regional-specific, age-specific, and sex-specific mechanisms regulate\n                    <jats:italic>TAF1<\/jats:italic>\n                    , highlighting the importance of disease-relevant models and postmortem tissue. We propose that the decreased\n                    <jats:italic>TAF1<\/jats:italic>\n                    expression in the adult caudate may synergize with the XDP-specific partial loss of\n                    <jats:italic>TAF1<\/jats:italic>\n                    function in patients, thereby passing a minimum threshold of\n                    <jats:italic>TAF1<\/jats:italic>\n                    function, and triggering degeneration in the neostriatum.\n                  <\/jats:p>","DOI":"10.1523\/eneuro.0129-22.2022","type":"journal-article","created":{"date-parts":[[2022,7,22]],"date-time":"2022-07-22T13:50:35Z","timestamp":1658497835000},"page":"ENEURO.0129-22.2022","source":"Crossref","is-referenced-by-count":7,"title":["Variation in TAF1 Expression in Female Carrier-Induced Pluripotent Stem Cells and Human Brain Ontogeny Has Implications for Adult Neostriatum Vulnerability in X-Linked Dystonia Parkinsonism"],"prefix":"10.1523","volume":"9","author":[{"given":"Laura","family":"D\u2019Ignazio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo S.","family":"Jacomini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bareera","family":"Qamar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2016-4646","authenticated-orcid":false,"given":"Kynon J. M.","family":"Benjamin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ria","family":"Arora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoyo","family":"Sawada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taylor A.","family":"Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth E.","family":"Diffenderfer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aimee R.","family":"Pankonin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William T.","family":"Hendriks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas M.","family":"Hyde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel E.","family":"Kleinman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel R.","family":"Weinberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Cristopher","family":"Bragg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Apua C. M.","family":"Paquola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6784-9290","authenticated-orcid":false,"given":"Jennifer A.","family":"Erwin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"393","published-online":{"date-parts":[[2022,7,22]]},"reference":[{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28305"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.02.011"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2020.105186"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2019.03.019"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.5","doi-asserted-by":"crossref","unstructured":"Benjamin KJ , Feltrin AS , Barbosa AR , Jaffe AE , Stolz J , Collado-Torres L , Huuki-Myers LA , Burke E , Shin JH , Ulrich WS , Deep-Soboslay A , Tao R , Hyde TM , Kleinman JE , Erwin JA , Weinberger DR , Paquola AC (2020) Genetic and environmental regulation of caudate nucleus transcriptome: insight into schizophrenia risk and the dopamine system. medRxiv.","DOI":"10.1101\/2020.11.18.20230540"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2017.10.025"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.7","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu170"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.8","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1712526114"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.9","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000708"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2016.07.012"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.11","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2016.0358"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.12","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcab253"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.13","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28750"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2019.05.013"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.15","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-110711-155454"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.16","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts635"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.17","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2014.56"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.18","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.292"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.19","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-016-2159-4"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.20","doi-asserted-by":"publisher","DOI":"10.1534\/g3.118.200815"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.21","first-page":"Unit 1B.6","article-title":"Characterization of X-chromosome inactivation status in human pluripotent stem cells","volume":"Chapter 1","year":"2010","journal-title":"Curr Protoc Stem Cell Biol"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.22","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.12.1956"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.23","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btw354"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.24","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4399"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.25","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20513"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.26","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt084"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.27","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaz1776"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.28","doi-asserted-by":"publisher","DOI":"10.1038\/nature24277"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.29","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcancer.2010.04.001"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.30","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy222"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.31","doi-asserted-by":"publisher","DOI":"10.1042\/NS20180141"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.32","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.022590"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.33","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2012.07.081"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.34","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-14-150"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.35","doi-asserted-by":"publisher","DOI":"10.1038\/nature22403"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.36","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3317"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.37","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2014-15-2-r29"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.38","doi-asserted-by":"publisher","DOI":"10.3109\/00207454.2010.526728"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.39","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts034"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.40","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btt656"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.41","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2006.06.019"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.42","doi-asserted-by":"publisher","DOI":"10.3390\/genes13010126"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.43","doi-asserted-by":"publisher","DOI":"10.1086\/512129"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.44","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks042"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.45","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2012.02.014"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.46","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0779-4"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.47","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1831949100"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.48","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80089-1"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.49","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.11.005"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.50","doi-asserted-by":"publisher","DOI":"10.1126\/science.aba3066"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.51","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2016.11.054"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.52","doi-asserted-by":"publisher","DOI":"10.1242\/dev.183095"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.53","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.4197"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.54","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27441"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.55","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv007"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.56","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp616"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.57","doi-asserted-by":"publisher","DOI":"10.1038\/nature08674"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.58","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2016.10.006"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.59","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2148-13-101"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.60","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.11.6.3317"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.61","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712018105"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.62","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712136105"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.63","doi-asserted-by":"publisher","DOI":"10.2202\/1544-6115.1027"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.64","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.171243598"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.65","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1912175116"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.66","unstructured":"Tange O (2018) Gnu parallel 2018. Zenodo. doi: 10.5281\/zenodo.1146014."},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.67","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2016.06.011"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.68","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2530"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.69","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2016.10.014"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.70","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2017.01.006"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.71","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2011.08.002"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.72","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts356"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.73","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25369"},{"key":"2023041302165766000_9.4.ENEURO.0129-22.2022.74","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25488"}],"container-title":["eneuro"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1523\/ENEURO.0129-22.2022","content-type":"unspecified","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1523\/ENEURO.0129-22.2022","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,13]],"date-time":"2023-04-13T06:17:09Z","timestamp":1681366629000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.eneuro.org\/lookup\/doi\/10.1523\/ENEURO.0129-22.2022"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":74,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,7,8]]},"published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1523\/ENEURO.0129-22.2022"],"URL":"https:\/\/doi.org\/10.1523\/eneuro.0129-22.2022","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.03.26.485862","asserted-by":"object"}]},"ISSN":["2373-2822"],"issn-type":[{"value":"2373-2822","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7]]}}}