Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Gln217Arg (p.Q217R)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Gln217Arg (p.Q217R) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Gerstmann-Straussler-Scheinker Disease
- Source Database
- DisGeNET
- Description
- We have now studied the folding and turnover of PrP32 to understand the mechanism by which abnormal PrP forms cause cellular toxicity in our cell culture model and in the human brain carrying the Gerstmann-Sträussler-Scheinker disease Q217R mutation.
- Pubmed
- 10970892
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.600051301892636
- Year of publication
- 2000
Drugs