期刊
ANNALS OF NEUROLOGY
卷 68, 期 4, 页码 549-553出版社
WILEY
DOI: 10.1002/ana.22138
关键词
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资金
- Dystonia Medical Research Foundation
- Bachmann-Strauss Dystonia and Parkinson Foundation
- Ligue Nationale Contre le Cancer
- National Institute of Neurological Disorders and Stroke [NS037409]
Primary dystonia is a movement disorder characterized by sustained muscle contractions and in which dystonia is the only or predominant clinical feature. TOR1A(DYT1) and the transcription factor THAP1(DYT6) 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 TOR1A 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;68:549-553
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