Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.

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 associ...

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Detalhes bibliográficos

Principais autores:	Zuchra Zakirova, Tomas Fanutza, Justine Bonet, Ben Readhead, Weijia Zhang, Zhengzi Yi, Genevieve Beauvais, Thomas P Zwaka, Laurie J Ozelius, Robert D Blitzer, Pedro Gonzalez-Alegre, Michelle E Ehrlich
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Public Library of Science (PLoS) 2018-01-01
coleção:	PLoS Genetics
Acesso em linha:	http://europepmc.org/articles/PMC5798844?pdf=render
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