Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.

ABSTRACT:

Background and objectives

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by variations in SACS gene encoding sacsin, a huge multimodular protein of unknown function. More than 200 SACS variations have been described worldwide to date. Because ARSACS presents phenotypic variability, previous empirical studies attempted to correlate the nature and position of SACS variations with the age at onset or with disease severity, although not considering the effect of the various variations on protein stability. In this work, we studied genotype-phenotype correlation in ARSACS at a functional level.

Methods

We analyzed a large set of skin fibroblasts derived from patients with ARSACS, including both new and already published cases, ca

SUBMITTER: Longo F 

PROVIDER: S-EPMC8665432 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature