Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an untreatable autosomal dominant neurodegenerative disease, and the most common such inherited ataxia worldwide. The mutation in SCA3 is the expansion of a polymorphic CAG tri-nucleotide repeat sequence in the C-te...

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Detalles Bibliográficos
Autores principales: Gao, Rui, Liu, Yongping, Silva-Fernandes, Anabela, Fang, Xiang, Paulucci-Holthauzen, Adriana, Chatterjee, Arpita, Zhang, Hang L., Matsuura, Tohru, Choudhary, Sanjeev, Ashizawa, Tetsuo, Koeppen, Arnulf H., Maciel, Patricia, Hazra, Tapas K., Sarkar, Partha S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4295939/
https://www.ncbi.nlm.nih.gov/pubmed/25590633
http://dx.doi.org/10.1371/journal.pgen.1004834

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