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UnknownIntegrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model.
Not available
S-EPMC9331974 | biostudies-literature
ProteomicsLong-Term Benefits of TUDCA Supplement in ARSACS Zebrafish Model
Our work demonstrated an impairment in cognitive, social and emotional behavior in aged sacs knockout zebrafish similar to that observed in human patients. Transcriptomic and proteomic data from the adult brains revealing alterations in several genes related to circadian rhythms and neuroinflammatio...
ORGANISM(S): Danio rerio (Zebrafish) (Brachydanio rerio) 
2025-09-03 | PXD058522 | Pride
Sacs-ko model Zebrafis Ataxia of charlevoix-saguenay Tauroursodeoxycholic acid 
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 
UnknownContributions of Interleukin-33 and TSLP in a papain-soaked contact lens-induced mouse conjunctival inflammation model.
Not available
S-EPMC5691312 | biostudies-literature
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
UnknownPrimitive Erythropoiesis in the Mouse is Independent of DOT1L Methyltransferase Activity.
Not available
S-EPMC8802720 | biostudies-literature
UnknownFunctional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology.
Not available
S-EPMC7873355 | biostudies-literature
GenomicsHomo sapiens
Functional transcriptome analysis in arsacs ko cell model reveals a role of sacsin in autophagy
PRJNA548751 | ENA
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
GenomicsFunctional Network Profiles In Arsacs Disclosed By Aptamer-Based Proteomic Technology
Functional Network Profiles In Arsacs Disclosed By Aptamer-Based Proteomic Technology
PRJNA680713 | ENA
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