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Literature summary for 3.2.1.45 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.
    View publication on PubMedView publication on EuropePMC

Application

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

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

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

Organism UniProt Comment Textmining
Homo sapiens P04062
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