General Stability | Organism |
---|---|
chemical chaperones stabilize Gaucher disease-associated glucocerebroside variants N370S and G202R against misfolding, enabling their trafficking from the endoplasmic reticulum. The L44P variant is not chaperoned, likely because this mutation destabilizes a domain distinct from the catalytic domain | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
Gaucher disease-associated glucocerebroside variants N370S and G202R | - |