Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model
Author:
Funder
Ministero della Salute
Ataxia Charlevoix-Saguenay Foundation
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://insight.jci.org/articles/view/163576/files/pdf
Reference55 articles.
1. Recessive ataxias
2. A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases
3. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF
4. The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Interactors of sacsin’s DNAJ domain identify function in organellar transport and membrane composition relevant to ARSACS pathogenesis;2024-01-09
2. A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to Haploinsufficiency;Current Issues in Molecular Biology;2023-12-09
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