{"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":1791250571808,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2010,10,25]],"date-time":"2010-10-25T00:00:00Z","timestamp":1287964800000},"content-version":"vor","delay-in-days":24,"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><jats:p>Mutations in <jats:italic>THAP1<\/jats:italic> have been associated with dystonia 6. <jats:italic>THAP1<\/jats:italic> encodes a transcription factor with mostly unknown targets. We tested the hypothesis that THAP1 regulates the expression of <jats:italic>DYT1 (TOR1A)<\/jats:italic>, another dystonia\u2010causing gene. After characterization of the <jats:italic>TOR1A<\/jats:italic> promoter, we demonstrate that THAP1 binds to the core promoter of <jats:italic>TOR1A<\/jats:italic>. Further, we report that wild type THAP1 represses the expression of <jats:italic>TOR1A,<\/jats:italic> whereas dystonia 6\u2010associated mutant THAP1 results in decreased repression of <jats:italic>TOR1A<\/jats:italic>. Our data demonstrate that THAP1 regulates the transcription of <jats:italic>TOR1A,<\/jats:italic> suggesting transcriptional dysregulation as a cause of dystonia. 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