Cell Lines
SACS/ARSACS/SPAX6
Publication
7168
Identification
- Causal gene(s)
- SACS
- Repeat size or mutation
- K1715*/R4331Q (compound heterozygous)
- Cell type
- Fibroblast
Source & Publications
- Originating lab / institution
- Obtained from: Radboud University Nijmegen Medical Center
- Links to publications or public resources
-
- A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay - PubMed
- Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin - PubMed
- The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics - PubMed
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