Article
Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration.
Proceedings of the National Academy of Sciences of the United States of America - 1 Feb 2011
Jafar-Nejad Paymaan, Ward Christopher S, Richman Ronald, Orr Harry T, Zoghbi Huda Y
Abstract excerpt
Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by the expansion of a CAG repeat encoding a polyglutamine tract in Ataxin-1 (ATXN1). Both WT and mutant ATXN1 interact with 14-3-3 proteins, and 14-3-3 overexpression stabilizes ATXN1 levels in cells and increases ATXN1 to...
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