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Article

Ataxin-2 repeat-length variation and neurodegeneration

24 May 2011

Abstract excerpt

Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies have suggested that expanded ATXN2 repeats are a genetic risk factor for amyotrophic lateral sclerosis (ALS) via an RNA-dependent interaction with TDP-43. Given the phenotypic diversity observed in SCA2 patients, we set out to determine the polymorphic...

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PMID: 21610160
DOI: 10.1093/hmg/ddr227

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