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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Bibliographic Details
Main Author: Gao, Rui (author)
Other Authors: Liu, Yongping (author), Fernandes, Anabela Silva (author), Fang, Xiang (author), Paulucci- Holthauzen, Adriana (author), Chatterjee, Arpita (author), Zhang, Hang L. (author), Matsuura, Tohru (author), Choudhary, Sanjeev (author), Ashizawa, Tetsuo (author), Koeppen, Arnulf H. (author), Maciel, P. (author), Hazra, Tapas K. (author), Sarkar, Partha S. (author)
Format: article
Language:eng
Published: 2015
Subjects:
Ciências Médicas::Medicina Básica
Science & Technology
Online Access:http://hdl.handle.net/1822/40869
Country:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/40869

Internet

http://hdl.handle.net/1822/40869

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