Ataxin-2 repeat-length variation and neurodegeneration

Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies have suggested that expanded ATXN2 repeats are a genetic risk factor for amyotrophic lateral sclerosis (ALS) via an RNA-dependent interaction...

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Main Authors: Ross, Owen A., Rutherford, Nicola J., Baker, Matt, Soto-Ortolaza, Alexandra I., Carrasquillo, Minerva M., DeJesus-Hernandez, Mariely, Adamson, Jennifer, Li, Ma, Volkening, Kathryn, Finger, Elizabeth, Seeley, William W., Hatanpaa, Kimmo J., Lomen-Hoerth, Catherine, Kertesz, Andrew, Bigio, Eileen H., Lippa, Carol, Woodruff, Bryan K., Knopman, David S., White, Charles L., Van Gerpen, Jay A., Meschia, James F., Mackenzie, Ian R., Boylan, Kevin, Boeve, Bradley F., Miller, Bruce L., Strong, Michael J., Uitti, Ryan J., Younkin, Steven G., Graff-Radford, Neill R., Petersen, Ronald C., Wszolek, Zbigniew K., Dickson, Dennis W., Rademakers, Rosa
Format: Artigo
Language:Inglês
Published: Oxford University Press 2011
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3140823/
https://ncbi.nlm.nih.gov/pubmed/21610160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr227
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