Annotation Detail
Information
- Associated Genes
- CAST
- Associated Variants
-
CAST MUTATION
CAST MUTATION - Associated Disease
- Cerebellar degeneration
- Source Database
- DisGeNET
- Description
- Oral administration of the calpain inhibitor BDA-410 decreased both fragments formation and full-length ataxin-3 levels, reduced aggregation of mutant ataxin-3 and prevented cell injury and striatal and cerebellar degeneration.
- Pubmed
- 24817574
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs