Article
Subcellular, biochemical and biophysical alterations in two glial cell models of ARSACS
2024-04-15
Abstract excerpt
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a developmental and degenerative disorder caused by loss-of-function mutations in the gene that codifies for the sacsin chaperone. Sacsin was initially described as a neuronal protein but is found in various cell types, including astroglial, microglial, kidney, and skin cell lines. We and others have shown that virtually all cell and animal mode...
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Identifiers and source
- Literature Corpus work
- 5d78705a-fed2-5860-b3a4-0d2140f097b2
- DOI
- 10.1101/2024.04.15.589510
