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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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| Hoofdauteurs: | , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
National Academy of Sciences
2011
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| Onderwerpen: | |
| Online toegang: | 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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