Protein Variants | Comment | Organism |
---|---|---|
L444P | lacidipine is found to rescue the activity of glucocerebrosidase variants carrying the two most common mutations, L444P and N370S, in Gaucher disease patient-derived fibroblasts. Treatment of patient-derived fibroblasts with lacidipine leads to rescue of folding, lysosomal trafficking, and activity of mutated glucocerebrosidase variants | Homo sapiens |
N370S | lacidipine is found to rescue the activity of glucocerebrosidase variants carrying the two most common mutations, L444P and N370S, in Gaucher disease patient-derived fibroblasts. Treatment of patient-derived fibroblasts with lacidipine leads to rescue of folding, lysosomal trafficking, and activity of mutated glucocerebrosidase variants | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
glucocerebrosidase | - |
Homo sapiens |