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SCA1-Like Disease in Mice Expressing Wild Type Ataxin-1 with a Serine to Aspartic Acid Replacement at Residue 776

Glutamine tract expansion triggers nine neurodegenerative diseases by conferring toxic properties to the mutant protein. In SCA1, phosphorylation of ATXN1 at Ser776 is thought to be key for pathogenesis. Here we show that replacing Ser776 with a phospho-mimicking Asp converted ATXN1 with a wild type...

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Autors principals: Duvick, Lisa, Barnes, Justin, Ebner, Blake, Agrawal, Smita, Andresen, Michael, Lim, Janghoo, Giesler, Glenn J., Zoghbi, Huda Y., Orr, Harry T.
Format: Artigo
Idioma:Inglês
Publicat: 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2946945/
https://ncbi.nlm.nih.gov/pubmed/20869591
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuron.2010.08.022
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