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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
Open publication

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