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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798844/
https://www.ncbi.nlm.nih.gov/pubmed/29364887
http://dx.doi.org/10.1371/journal.pgen.1007169

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