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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 
ProteomicsIdentifying sacsin interactors. Defining quantitative alterations of the cerebellar proteome in the absence of sacsin.
Sacsin is a huge protein highly expressed in neurons, whose function is still largely unknown. To gain insights into sacsin role in neurons, we performed immunoprecipitation of endogenous sacsin in SH-SY5Y cells differentiated into neurons followed by LC-MS/MS of eluates to identify its interactors....
ORGANISM(S): Mus musculus (Mouse) Homo sapiens (Human) 
2025-05-13 | PXD033385 | Pride
Cerebellum Human Sacsin Mouse Arsacs 
GenomicsThe HEPN domain of SACSIN binds to RNA
The HEPN domain of SACSIN binds to RNA
PRJNA1372603 | ENA
ProteomicsProteomic datasets from sacsin knockout human SH-SY5Y and mouse primary cortical neurons
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a childhood-onset cerebellar ataxia caused by mutations in SACS, which encodes the protein sacsin. Cellular ARSACS phenotypes include mitochondrial dysfunction, intermediate filament disorganization, and the progressive death of c...
ORGANISM(S): Mus musculus (Mouse) 
2022-10-25 | PXD036906 | Pride
Neurobiology Arscacs Proteome Kinome Phosphoproteome Surfaceome 
TranscriptomicsThe HEPN domain of SACSIN binds to RNA
Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay (ARSACS) is a neurodegenerative disorder caused by mutations on the SACS gene, though the molecular function of its protein product, SACSIN, remains elusive. Therapeutic strategies for ARSACS are limited, mostly due to the exceptionally large...
ORGANISM(S): Homo sapiens 
2026-08-31 | GSE312176 | GEO
GenomicsMulti-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization
Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization
PRJNA884384 | ENA
TranscriptomicsMulti-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a childhood-onset cerebellar ataxia caused by mutations in SACS, which encodes the protein sacsin. Cellular ARSACS phenotypes include mitochondrial dysfunction, intermediate filament disorganization, and the progressive death of c...
ORGANISM(S): Homo sapiens 
2022-10-03 | GSE214213 | GEO
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 
UnknownSacsin Deletion Induces Aggregation of Glial Intermediate Filaments.
Not available
S-EPMC8773934 | biostudies-literature
UnknownTwo divergent haplogroups of a sacsin-like gene in Acropora corals.
Not available
S-EPMC8626496 | biostudies-literature
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