The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a fatal brain disorder featuring cerebellar neurodegeneration leading to spasticity and ataxia. This disease is caused by mutations in the SACS gene that encodes sacsin, a massive 4579-amino acid protein with multiple modular domains. Howe...

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Detalles Bibliográficos
Autores principales: Francis, Vincent, Alshafie, Walaa, Kumar, Rahul, Girard, Martine, Brais, Bernard, McPherson, Peter S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9437860/
https://www.ncbi.nlm.nih.gov/pubmed/35933016
http://dx.doi.org/10.1016/j.jbc.2022.102320

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9437860/
https://www.ncbi.nlm.nih.gov/pubmed/35933016
http://dx.doi.org/10.1016/j.jbc.2022.102320

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