Article
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
Human mutation - 1 Nov 2011
Blanchard Arnaud, Ea Vuthy, Roubertie Agathe, Martin Mélanie, Coquart Coline, Claustres Mireille, Béroud Christophe, Collod-Béroud Gwenaëlle
Abstract excerpt
By family-based screening, first Fuchs and then many other authors showed that mutations in THAP1 (THAP [thanatos-associated protein] domain-containing, apoptosis-associated protein 1) account for a substantial proportion of familial, early-onset, nonfocal, primary dystonia cases (DYT6 dystonia). THAP1 is the first transcriptional factor involved in primary dystonia and the hypothesis of a transcriptional...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.