{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T20:38:39Z","timestamp":1772138319653,"version":"3.50.1"},"reference-count":46,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2021,10,23]],"date-time":"2021-10-23T00:00:00Z","timestamp":1634947200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["1R01NS109227"],"award-info":[{"award-number":["1R01NS109227"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["1R01NS110853"],"award-info":[{"award-number":["1R01NS110853"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,3,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Dystonia is a disabling disease that manifests as prolonged involuntary twisting movements. DYT-THAP1 is an inherited form of isolated dystonia caused by mutations in THAP1 encoding the transcription factor THAP1. The phe81leu (F81L) missense mutation is representative of a category of poorly understood mutations that do not occur on residues critical for DNA binding. Here, we demonstrate that the F81L mutation (THAP1F81L) impairs THAP1 transcriptional activity and disrupts CNS myelination. Strikingly, THAP1F81L exhibits normal DNA binding but causes a significantly reduced DNA binding of YY1, its transcriptional partner that also has an established role in oligodendrocyte lineage progression. Our results suggest a model of molecular pathogenesis whereby THAP1F81L normally binds DNA but is unable to efficiently organize an active transcription complex.<\/jats:p>","DOI":"10.1093\/hmg\/ddab310","type":"journal-article","created":{"date-parts":[[2021,10,20]],"date-time":"2021-10-20T18:43:39Z","timestamp":1634755419000},"page":"1096-1104","source":"Crossref","is-referenced-by-count":15,"title":["A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding"],"prefix":"10.1093","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2031-0917","authenticated-orcid":false,"given":"Dhananjay","family":"Yellajoshyula","sequence":"first","affiliation":[{"name":"Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abigail E","family":"Rogers","sequence":"additional","affiliation":[{"name":"Molecular Cellular and Developmental Biology, University of Michigan, Ann Arbor, MI 48109, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey J","family":"Kim","sequence":"additional","affiliation":[{"name":"Peter O\u2019Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7388-819X","authenticated-orcid":false,"given":"Sumin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA"},{"name":"Cellular and Molecular Biology Graduate Program, University of Michigan, Ann Arbor, MI 48109, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6980-2058","authenticated-orcid":false,"given":"Samuel S","family":"Pappas","sequence":"additional","affiliation":[{"name":"Peter O\u2019Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA"},{"name":"Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William T","family":"Dauer","sequence":"additional","affiliation":[{"name":"Peter O\u2019Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA"},{"name":"Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA"},{"name":"Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,10,23]]},"reference":[{"key":"2022040211411736700_ref1","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/ng.304","article-title":"Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia","volume":"41","author":"Fuchs","year":"2009","journal-title":"Nat. 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