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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
ProteomicsIn vitro pilot study of polydopamine nanoparticles as protective antioxidant agents on fibroblasts cells derived from ARSACS patients
Reactive oxygen species (ROS) are active molecules involved in several biological functions. When the production of ROS is not counterbalanced by the action of protective antioxidant mechanisms present in living organisms, a condition of oxidative stress can arise with consequent damage to biologica...
ORGANISM(S): Homo sapiens (Human) 
2022-06-22 | PXD032916 | Pride
Reactive oxygen species Arsacs Polydopamine nanoparticles Fibroblasts 
GenomicsFunctional Network Profiles In Arsacs Disclosed By Aptamer-Based Proteomic Technology
Functional Network Profiles In Arsacs Disclosed By Aptamer-Based Proteomic Technology
PRJNA680713 | ENA
UnknownHsp90 Inhibition: A Promising Therapeutic Approach for ARSACS.
Not available
S-EPMC8584178 | biostudies-literature
UnknownAn Investigation of Corticospinal Tract Microstructural Integrity in ARSACS Using a Profilometry MRI Analysis: Results From the PROSPAX Study.
Not available
S-EPMC12003562 | biostudies-literature
ProteomicsSacsin, the ARSACS disease protein, controls lysosomal positioning and reformation by regulating microtubule dynamics
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a fatal brain disorder featuring cerebellar neurodegeneration leading to spasticity and ataxia. ARSACS is caused by mutations in the SACS gene that encodes sacsin, a massive 4579 amino acid protein with multiple modular domains. H...
ORGANISM(S): Homo sapiens (Human) 
2022-10-15 | PXD033823 | Pride
Lysosome Alr Microtubule 
ProteomicsFunctional Network Profiles In Arsacs Disclosed By Aptamer-Based Proteomic Technology
Although the genetic basis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) has been uncovered, the cellular and molecular mechanisms characterizing this rare neurodegenerative disease are still under investigation, and no cure has yet been developed. In this study, we analyzed ...
ORGANISM(S): Homo sapiens 
2020-11-26 | GSE162132 | GEO
UnknownAssessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.
Not available
S-EPMC8665432 | 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 
UnknownARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Not available
S-EPMC2441586 | biostudies-literature
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