Article
Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.
Human molecular genetics - 20 Dec 2015
Ruiz Marta, Perez-Garcia Georgina, Ortiz-Virumbrales Maitane, Méneret Aurelie, Morant Andrika, Kottwitz Jessica, Fuchs Tania, Bonet Justine, Gonzalez-Alegre Pedro, Hof Patrick R, Ozelius Laurie J, Ehrlich Michelle E
Abstract excerpt
DYT6 dystonia is caused by mutations in THAP1 [Thanatos-associated (THAP) domain-containing apoptosis-associated protein] and is autosomal dominant and partially penetrant. Like other genetic primary dystonias, DYT6 patients have no characteristic neuropathology, and mechanisms by which mutations in THAP1 cause dystonia are unknown. Thap1 is a zinc-finger transcription factor, and most pathogenic THAP1 mutations...
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