Article
Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.
PLoS genetics - 1 Jan 2018
Zakirova Zuchra, Fanutza Tomas, Bonet Justine, Readhead Ben, Zhang Weijia, Yi Zhengzi, Beauvais Genevieve, Zwaka Thomas P, Ozelius Laurie J, Blitzer Robert D, Gonzalez-Alegre Pedro, Ehrlich Michelle E
Abstract excerpt
Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically, phenotypically and etiologically diverse and it is unknown whether their pathogenesis converges on shared pathways. Mutations in THAP1 [THAP (Thanatos-associated protein) domain containing, apoptosis associated protein 1], a ubiquitously expressed transcription factor with DNA binding and protein-interaction domains,...
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