{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:36:11Z","timestamp":1791250571442,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2010,9,23]],"date-time":"2010-09-23T00:00:00Z","timestamp":1285200000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Primary dystonia is a movement disorder characterized by sustained muscle contractions and in which dystonia is the only or predominant clinical feature.\n                    <jats:italic>TOR1A<\/jats:italic>\n                    (\n                    <jats:italic>DYT1<\/jats:italic>\n                    ) and the transcription factor\n                    <jats:italic>THAP1<\/jats:italic>\n                    (\n                    <jats:italic>DYT6<\/jats:italic>\n                    ) are the only genes identified thus far for primary dystonia. Using electromobility shift assays and chromatin immunoprecipitation (ChIP) quantitative polymerase chain reaction (qPCR), we demonstrate a physical interaction between THAP1 and the\n                    <jats:italic>TOR1A<\/jats:italic>\n                    promoter that is abolished by pathophysiologic mutations. Our findings provide the first evidence that causative genes for primary dystonia intersect in a common pathway and raise the possibility of developing novel therapies targeting this pathway. Ann Neurol 2010\n                  <\/jats:p>","DOI":"10.1002\/ana.22138","type":"journal-article","created":{"date-parts":[[2010,9,23]],"date-time":"2010-09-23T10:18:44Z","timestamp":1285237124000},"page":"549-553","source":"Crossref","is-referenced-by-count":78,"title":["Direct interaction between causative genes of DYT1 and DYT6 primary dystonia"],"prefix":"10.1002","volume":"68","author":[{"given":"Sophie","family":"Gavarini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Cayrol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Fuchs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Lyons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle E.","family":"Ehrlich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Philippe","family":"Girard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie J.","family":"Ozelius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,9,23]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.304"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70081-X"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70083-3"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181d5276d"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181ca00ca"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22861"},{"key":"e_1_2_5_8_2","doi-asserted-by":"crossref","first-page":"2428","DOI":"10.1002\/mds.22849","article-title":"Identification of a novel THAP1 mutation at R29 amino\u2010acid residue in sporadic patients with early\u2010onset dystonia","volume":"24","author":"Paisan","year":"2009","journal-title":"Mov Disord"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(02)00013-0"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0406882102"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M707537200"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.1742"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-03-012013"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2008.05465.x"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2005.12.087"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp557"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature08677"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0008910"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2008.04.020"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2008.12.041"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2009.12.003"},{"key":"e_1_2_5_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22433"},{"key":"e_1_2_5_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/msj.20002"},{"key":"e_1_2_5_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1206271"},{"key":"e_1_2_5_25_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.072579"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.22138","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.22138","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T01:09:36Z","timestamp":1697418576000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.22138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,23]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["10.1002\/ana.22138"],"URL":"https:\/\/doi.org\/10.1002\/ana.22138","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.8643956.9146054","asserted-by":"object"}]},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9,23]]}}}