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ProteomicsIntegrative organelle-based functional proteomics in ARSACS-focus on bioenergetics and autophagy
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disease characterized by early-onset spasticity in the lower limbs, axonal-demyelinating sensorimotor peripheral neuropathy, and cerebellar ataxia. Our understanding of the genetic basis, protein fun...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-12-20 | MSV000088592 | MassIVE
UnknownReduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.
Not available
S-EPMC11291951 | biostudies-literature
UnknownIdentification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report.
Not available
S-EPMC12363115 | biostudies-literature
UnknownCase Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Not available
S-EPMC7784631 | biostudies-literature
ProteomicsProteomics and lipidomics analysis reveal lipid and calcium signalling as dysregulated pathways associated to sacsin loss
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare uncurable neurodegenerative disease caused by mutation in SACS gene coding for sacsin, a large protein involved in protein homeostasis, mitochondrial function, cytoskeleton dynamics, autophagy, cell adhesion and vesicle tra...
ORGANISM(S): Homo sapiens (Human) 
2024-07-03 | PXD049199 | Pride
Autosomal recessive spastic ataxia of charlevoix-saguenay Arsacs Proteomics Lc-ms/ms 
ProteomicsEvaluation of Therapeutic Potential of Resveratrol-Loaded Nanostructured Lipid Carriers on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Patients Fibroblasts
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurological disease characterized by autosomal recessive mutations in the sacsin gene (SACS), that cause in patients progressive cerebellar atrophy, damage of the peripheral nerves, and significant retinal changes and cognitive...
ORGANISM(S): Homo sapiens (Human) 
2021-11-03 | PXD025718 | Pride
Nanostructured lipid carriers Arsacs Oxidative stress Resveratrol 
UnknownLongitudinal Imaging Biomarkers Correlate with Progressive Motor Deficit in the Mouse Model of Charlevoix-Saguenay Ataxia.
Not available
S-EPMC11831876 | biostudies-literature
UnknownHsp90 Inhibition: A Promising Therapeutic Approach for ARSACS.
Not available
S-EPMC8584178 | biostudies-literature
UnknownSacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Not available
S-EPMC4291249 | biostudies-literature
UnknownS100B Mitigates Cytoskeletal and Mitochondrial Alterations in a Glial Cell Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Not available
S-EPMC12367932 | biostudies-literature
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