PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by an expansion of a polyglutamine tract within the ATXN1 gene. Normal alleles have been reported to range from 6 to 35 repeats, intermediate alleles from 36 to 38 repeats and fully penetrant pathogenic a...

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Detalhes bibliográficos
Publicado no:Front Cell Neurosci
Main Authors: Nethisinghe, Suran, Pigazzini, Maria Lucia, Pemble, Sally, Sweeney, Mary G., Labrum, Robyn, Manso, Katarina, Moore, David, Warner, Jon, Davis, Mary B., Giunti, Paola
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
Assuntos:
Neuroscience
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6080413/
https://ncbi.nlm.nih.gov/pubmed/30108484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fncel.2018.00200
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