Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

@article{Lim2008OpposingEO,
  title={Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1},
  author={Janghoo Lim and Juan Crespo-Barreto and Paymaan Jafar-nejad and Aaron B. Bowman and Ronald Richman and David E Hill and Harry T. Orr and Huda Y. Zoghbi},
  journal={Nature},
  year={2008},
  volume={452},
  pages={713-718}
}
Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease caused by expansion of a glutamine-encoding repeat in ataxin 1 (ATXN1). In all known polyglutamine diseases, the glutamine expansion confers toxic functions onto the protein; however, the mechanism by which this occurs remains enigmatic, in light of the fact that the mutant protein apparently maintains interactions with its usual partners. Here we show that the expanded polyglutamine tract differentially… CONTINUE READING
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