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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Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Oxford University Press 2011
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Articles
Διαθέσιμο Online: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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