Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3ε haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration

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 toxic...

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Main Authors: Jafar-Nejad, Paymaan, Ward, Christopher S., Richman, Ronald, Orr, Harry T., Zoghbi, Huda Y.
Formáid: Artigo
Teanga:Inglês
Foilsithe: National Academy of Sciences 2011
Ábhair:
Biological Sciences
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3033247/
https://ncbi.nlm.nih.gov/pubmed/21245341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1018748108
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