Article
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
Journal of molecular neuroscience : MN - 1 May 2017
Richter Alev, Hollstein Ronja, Hebert Eva, Vulinovic Franca, Eckhold Juliane, Osmanovic Alma, Depping Reinhard, Kaiser Frank J, Lohmann Katja
Abstract excerpt
Mutations in the THAP1 gene encoding the transcription factor THAP1 have been shown to cause DYT6 dystonia. THAP1 contains a highly conserved THAP zinc finger at its N-terminal region which allows specific binding to its target sequences as well as a coiled-coil domain (amino acids 139-190) towards its C-terminus postulated as a protein-protein-binding motif. While several DYT6-causing mutations within the THAP...
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