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Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1

Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disorder characterized by motor incoordination, mild cognitive decline, respiratory dysfunction, and early lethality. It is caused by the expansion of the polyglutamine (polyQ) tract in Ataxin-1 (ATXN1), which stabilizes the pr...

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Detalles Bibliográficos
Autores principales: Nitschke, Larissa, Coffin, Stephanie L., Xhako, Eder, El-Najjar, Dany B., Orengo, James P., Alcala, Elizabeth, Dai, Yanwan, Wan, Ying-Wooi, Liu, Zhandong, Orr, Harry T., Zoghbi, Huda Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7934855/
https://www.ncbi.nlm.nih.gov/pubmed/33554954
http://dx.doi.org/10.1172/jci.insight.144955