{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["97(23)"],"submitter":["Longo F"],"pubmed_abstract":["<h4>Background and objectives</h4>Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by variations in <i>SACS</i> gene encoding sacsin, a huge multimodular protein of unknown function. More than 200 <i>SACS</i> variations have been described worldwide to date. Because ARSACS presents phenotypic variability, previous empirical studies attempted to correlate the nature and position of <i>SACS</i> 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.<h4>Methods</h4>We analyzed a large set of skin fibroblasts derived from patients with ARSACS, including both new and already published cases, ca"],"journal":["Neurology"],"pagination":["e2315-e2327"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8665432"],"repository":["biostudies-literature"],"pubmed_title":["Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis."],"pmcid":["PMC8665432"],"pubmed_authors":["Fraticelli D","Santorelli FM","Baets J","Scarlato M","Longo F","De Ritis D","Miluzio A","Biffo S","Maltecca F"],"additional_accession":[]},"is_claimable":false,"name":"Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.","description":"<h4>Background and objectives</h4>Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by variations in <i>SACS</i> gene encoding sacsin, a huge multimodular protein of unknown function. More than 200 <i>SACS</i> variations have been described worldwide to date. Because ARSACS presents phenotypic variability, previous empirical studies attempted to correlate the nature and position of <i>SACS</i> 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.<h4>Methods</h4>We analyzed a large set of skin fibroblasts derived from patients with ARSACS, including both new and already published cases, ca","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Dec","modification":"2025-04-04T13:12:44.149Z","creation":"2022-02-11T14:02:45.518Z"},"accession":"S-EPMC8665432","cross_references":{"pubmed":["34649874"],"doi":["10.1212/WNL.0000000000012962"]}}