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Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA d...
Gao, Rui; Liu, Yongping; Fernandes, Anabela Silva; Fang, Xiang; Paulucci- Holthauzen, Adriana; Chatterjee, Arpita; Zhang, Hang L.; Matsuura, TohruSpinocerebellar 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-terminal coding region of the ATXN3 gene at chromosomal locus 14q32.1. The mutant ATXN3 protein encoding expanded gl...
Date: 2015
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Origin: RepositóriUM - Universidade do Minho