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Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease caused by expansion of a CAG repeat that encodes a polyglutamine tract in ATAXIN1 (ATXN1). Molecular and genetic data indicate that SCA1 is mainly caused by a gain-of-function mechanism. However, deletion of wil...

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Autori principali: Crespo-Barreto, Juan, Fryer, John D., Shaw, Chad A., Orr, Harry T., Zoghbi, Huda Y.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2900305/
https://ncbi.nlm.nih.gov/pubmed/20628574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1001021
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