Article

Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-Saguenay

2021-03-17

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is caused by more than 200 different mutations in the SACS gene encoding sacsin, a huge multimodular protein of unknown function. ARSACS phenotypic spectrum is highly variable. Previous studies correlated the nature and position of SACS mutations with age of onset or disease severity, though the effects on protein stability were not considered. In this s...

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Literature Corpus work: 79d4dc25-70b0-5caf-b6fd-0334b8ab540c
DOI: 10.1101/2021.03.16.435646

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