Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

  title={Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS},
  author={Andrew C. Elden and Hyung-Jun Kim and Michael P. Hart and Alice S Chen-Plotkin and Brian S Johnson and Xiaodong Fang and Maria Armakola and Felix Geser and Robert H. Greene and Min Min Lu and Arun Padmanabhan and D. V. Clay and L. F. McCluskey and L. B. Elman and Denise Juhr and Peter J Gruber and Udo R{\"u}b and Georg Auburger and John Q. Trojanowski and Virginia M. Y. Lee and Vivianna M Van Deerlin and Nancy M Bonini and Aaron D Gitler},
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 associate in a complex that depends on RNA. In spinal cord neurons of ALS patients… CONTINUE READING
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