Article
PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats.
PloS one - 29 Mar 2011
Yu Zhenming, Zhu Yongqing, Chen-Plotkin Alice S, Clay-Falcone Dana, McCluskey Leo, Elman Lauren, Kalb Robert G, Trojanowski John Q, Lee Virginia M-Y, Van Deerlin Vivianna M, Gitler Aaron D, Bonini Nancy M
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a devastating, rapidly progressive disease leading to paralysis and death. Recently, intermediate length polyglutamine (polyQ) repeats of 27-33 in ATAXIN-2 (ATXN2), encoding the ATXN2 protein, were found to increase risk for ALS. In ATXN2, polyQ expansions of ≥ 34, which are pure CAG repeat expansions, cause spinocerebellar ataxia type 2. However, similar length expansions...
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