Article
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Biochimica et biophysica acta - 1 Nov 2014
Erogullari Alev, Hollstein Ronja, Seibler Philip, Braunholz Diana, Koschmidder Eva, Depping Reinhard, Eckhold Juliane, Lohnau Thora, Gillessen-Kaesbach Gabriele, Grünewald Anne, Rakovic Aleksandar, Lohmann Katja, Kaiser Frank J
Abstract excerpt
THAP1 encodes a transcription factor but its regulation is largely elusive. TOR1A was shown to be repressed by THAP1 in vitro. Notably, mutations in both of these genes lead to dystonia (DYT6 or DYT1). Surprisingly, expressional changes of TOR1A in THAP1 mutation carriers have not been detected indicating additional levels of regulation. Here, we investigated whether THAP1 is able to autoregulate its own...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.