Article
Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization.
Cell reports - 1 Nov 2022
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
Abstract excerpt
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 cerebellar Purkinje neurons. It is unclear why the loss of sacsin causes these deficits or why they manifest as...
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