Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the gene SACS, encoding the 520 kDa protein sacsin. Although sacsin’s physiological role is largely unknown, its sequence domains suggest a molecular chaperone or protein quality control function. Consequenc...

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Detalles Bibliográficos
Autores principales: Duncan, Emma J., Larivière, Roxanne, Bradshaw, Teisha Y., Longo, Fabiana, Sgarioto, Nicolas, Hayes, Matthew J., Romano, Lisa E.L., Nethisinghe, Suran, Giunti, Paola, Bruntraeger, Michaela B., Durham, Heather D., Brais, Bernard, Maltecca, Francesca, Gentil, Benoit J., Chapple, J. Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886247/
https://www.ncbi.nlm.nih.gov/pubmed/28535259
http://dx.doi.org/10.1093/hmg/ddx197

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