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Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a childhood-onset cerebellar ataxia caused by mutations in SACS, which encodes the protein sacsin. Cellular ARSACS phenotypes include mitochondrial dysfunction, intermediate filament disorganization, and progressive death of cereb...

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Detalles Bibliográficos
Autores principales:	Romano, Lisa E.L., Aw, Wen Yih, Hixson, Kathryn M., Novoselova, Tatiana V., Havener, Tammy M., Howell, Stefanie, Taylor-Blake, Bonnie, Hall, Charlotte L., Xing, Lei, Beri, Josh, Nethisinghe, Suran, Perna, Laura, Hatimy, Abubakar, Altadonna, Ginevra Chioccioli, Graves, Lee M., Herring, Laura E., Hickey, Anthony J., Thalassinos, Konstantinos, Chapple, J. Paul, Wolter, Justin M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cell Press 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9647044/ https://www.ncbi.nlm.nih.gov/pubmed/36323248 http://dx.doi.org/10.1016/j.celrep.2022.111580

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