CAS: 957230-65-8

Inhibitor of lysosomal acid β-glucosidase (GlcCerase/glucocerebrosidase) with IC50 in nanomolar range for wildtype and mutant enzyme. It behaves as pharmacological chaperon by binding to instable GlcCerase active site at neutral pH values and facilitating the protein folding. In acidic lysosomes, isofagomine gets release from the enzyme active site. This results in increased levels of functional glucocerebrosidase and brings therapeutic benefits to patients with Gaucher disease.

Stability Very Hygroscopic Applications Used as human acid β-glucosidase inhibitor and for the treatment of Gaucher disease. References Zhou, Z., et al.: J. Biol. Chem., 274, 31123 (1999), Pandey, G., et al.: Tetrahedron lett., 41, 8821, (2000).

Afegostat D-Tartrate: pharmacological chaperone, reversibly binds acid-β-glucosidase in ER with high affinity.