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Cross-species genetic screens identify transglutaminase 5 as a regulator of polyglutamine-expanded ataxin-1

Many neurodegenerative disorders are caused by abnormal accumulation of misfolded proteins. In spinocerebellar ataxia type 1 (SCA1), accumulation of polyglutamine-expanded (polyQ-expanded) ataxin-1 (ATXN1) causes neuronal toxicity. Lowering total ATXN1, especially the polyQ-expanded form, alleviates...

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Detalles Bibliográficos
Autores principales: Lee, Won-Seok, Al-Ramahi, Ismael, Jeong, Hyun-Hwan, Jang, Youjin, Lin, Tao, Adamski, Carolyn J., Lavery, Laura A., Rath, Smruti, Richman, Ronald, Bondar, Vitaliy V., Alcala, Elizabeth, Revelli, Jean-Pierre, Orr, Harry T., Liu, Zhandong, Botas, Juan, Zoghbi, Huda Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9057624/
https://www.ncbi.nlm.nih.gov/pubmed/35499073
http://dx.doi.org/10.1172/JCI156616