Application | Comment | Organism |
---|---|---|
medicine | isofagomine enhances mutant enzyme activity in pre-treated N370S/N370S and F213L/L444P patient fibroblasts with Gaucher disease | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
F213L | isofagomine enhances mutant enzyme activity in pre-treated N370S/N370S and F213L/L444P patient fibroblasts with Gaucher disease | Homo sapiens |
L444P | isofagomine enhances mutant enzyme activity in pre-treated N370S/N370S and F213L/L444P patient fibroblasts with Gaucher disease | Homo sapiens |
N370S | isofagomine enhances mutant enzyme activity in pre-treated N370S/N370S and F213L/L444P patient fibroblasts with Gaucher disease | Homo sapiens |
Inhibitors | Comment | Organism | Structure |
---|---|---|---|
isofagomine | competitive inhibition and role as a pharmacological chaperone. A hydrogen bonding network is formed between isofagomine and active site residues resulting in greater global stability and a shift in the melting curve by 15 degrees. Isofagomine enhances mutant enzyme activity in pre-treated N370S/N370S and F213L/L444P patient fibroblasts with Gaucher disease | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P04062 | - |
- |