Article
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
Nature - 26 Aug 2010
Elden Andrew C, Kim Hyung-Jun, Hart Michael P, Chen-Plotkin Alice S, Johnson Brian S, Fang Xiaodong, Armakola Maria, Geser Felix, Greene Robert, Lu Min Min, Padmanabhan Arun, Clay-Falcone Dana, McCluskey Leo, Elman Lauren, Juhr Denise, Gruber Peter J, Rüb Udo, Auburger Georg, Trojanowski John Q, Lee Virginia M-Y, Van Deerlin Vivianna M, Bonini Nancy M, Gitler Aaron D
Abstract excerpt
The causes of amyotrophic lateral sclerosis (ALS), a devastating human neurodegenerative disease, are poorly understood, although the protein TDP-43 has been suggested to have a critical role in disease pathogenesis. Here we show that ataxin 2 (ATXN2), a polyglutamine (polyQ) protein mutated in spinocerebellar ataxia type 2, is a potent modifier of TDP-43 toxicity in animal and cellular models. ATXN2 and TDP-43...
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