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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Vydáno v:PLoS Genet
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2018
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5798844/
https://ncbi.nlm.nih.gov/pubmed/29364887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007169
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