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• W3136215051 abstract "Abstract 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 study, we explain mechanistically the lack of genotype-phenotype correlation in ARSACS, with important consequences for disease diagnosis and treatment. We found that sacsin is almost absent in ARSACS fibroblasts, regardless of the nature of the mutation. We did not detect sacsin in patients with truncating mutations, while we found it strikingly reduced or absent also in compound heterozygotes carrying diverse missense mutations. We excluded SACS mRNA decay, defective translation, or faster post-translational degradation as causes of protein reduction. Conversely, we demonstrated that nascent mutant sacsin protein undergoes preemptive cotranslational degradation, emerging as a novel cause of a human disease. Based on these findings, sacsin levels should be included in the diagnostic algorithm for ARSACS." @default.
• W3136215051 created "2021-03-29" @default.
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• W3136215051 date "2021-03-17" @default.
• W3136215051 modified "2023-10-08" @default.
• W3136215051 title "Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-Saguenay" @default.
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• W3136215051 doi "https://doi.org/10.1101/2021.03.16.435646" @default.
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