Literature summary extracted from
Kornhaber, G.J.; Tropak, M.B.; Maegawa, G.H.; Tuske, S.J.; Coales, S.J.; Mahuran, D.J.; Hamuro, Y.
Isofagomine induced stabilization of glucocerebrosidase (2008), ChemBioChem, 9, 2643-2649.
Application
EC Number |
Application |
Comment |
Organism |
---|
3.2.1.45 |
medicine |
isofagomine enhances mutant enzyme activity in pre-treated N370S/N370S and F213L/L444P patient fibroblasts with Gaucher disease |
Homo sapiens |
Protein Variants
EC Number |
Protein Variants |
Comment |
Organism |
---|
3.2.1.45 |
F213L |
isofagomine enhances mutant enzyme activity in pre-treated N370S/N370S and F213L/L444P patient fibroblasts with Gaucher disease |
Homo sapiens |
3.2.1.45 |
L444P |
isofagomine enhances mutant enzyme activity in pre-treated N370S/N370S and F213L/L444P patient fibroblasts with Gaucher disease |
Homo sapiens |
3.2.1.45 |
N370S |
isofagomine enhances mutant enzyme activity in pre-treated N370S/N370S and F213L/L444P patient fibroblasts with Gaucher disease |
Homo sapiens |
Inhibitors
EC Number |
Inhibitors |
Comment |
Organism |
Structure |
---|
3.2.1.45 |
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
EC Number |
Organism |
UniProt |
Comment |
Textmining |
---|
3.2.1.45 |
Homo sapiens |
P04062 |
- |
- |