Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 3.2.1.45 extracted from

  • Tropak, M.B.; Kornhaber, G.J.; Rigat, B.A.; Maegawa, G.H.; Buttner, J.D.; Blanchard, J.E.; Murphy, C.; Tuske, S.J.; Coales, S.J.; Hamuro, Y.; Brown, E.D.; Mahuran, D.J.
    Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry (2008), ChemBioChem, 9, 2650-2662.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.2.1.45

Application

Application Comment Organism
medicine inhibitors 5-((4-methylphenyl)thio)-quinazoline 2,4-diamine and 5-(3,5-dichlorophenoxy)-N-(4-pyridinyl)-2-furamide raise the levels of functional GCase 1.5–2.5-fold in N370S or F213I Gaucher disease fibroblasts. Treated fibroblasts from patients with Gaucher disease show decreased levels of enzyme in their endoplasmic reticulum and increased levels in lysosomes. Compound stabilizes a domain III active-site loop Homo sapiens

Protein Variants

Protein Variants Comment Organism
F213I inhibitors 5-((4-methylphenyl)thio)-quinazoline 2,4-diamine and 5-(3,5-dichlorophenoxy)-N-(4-pyridinyl)-2-furamide raise the levels of functional GCase 1.5-2.5-fold in N370S or F213I Gaucher disease fibroblasts. Treated fibroblasts from patients with Gaucher disease show decreased levels of enzyme in their endoplasmic reticulum and increased levels in lysosomes. Compound stabilizes a domain III active-site loop Homo sapiens
N370S inhibitors 5-((4-methylphenyl)thio)-quinazoline 2,4-diamine and 5-(3,5-dichlorophenoxy)-N-(4-pyridinyl)-2-furamide raise the levels of functional GCase 1.5-2.5-fold in N370S or F213I Gaucher disease fibroblasts. Treated fibroblasts from patients with Gaucher disease show decreased levels of enzyme in their endoplasmic reticulum and increased levels in lysosomes. Compound stabilizes a domain III active-site loop Homo sapiens

Inhibitors

Inhibitors Comment Organism Structure
5-((4-methylphenyl)thio)-quinazoline 2,4-diamine inhibition of wild-type enzyme and chaperone function on mutant enzyme. Treated fibroblasts from patients with Gaucher disease show decreased levels of enzyme in their endoplasmic reticulum and increased levels in lysosomes. Compound stabilizes a domain III active-site loop Homo sapiens
5-(3,5-dichlorophenoxy)-N-(4-pyridinyl)-2-furamide inhibition of wild-type enzyme and chaperone function on mutant enzyme. Treated fibroblasts from patients with Gaucher disease show decreased levels of enzyme in their endoplasmic reticulum and increased levels in lysosomes. Compound stabilizes a domain III active-site loop Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-methylumbelliferyl-beta-D-glucopyranoside + H2O
-
 Homo sapiens methylumbelliferone + glucose
-
 ?

IC50 Value

IC50 Value IC50 Value Maximum Comment Organism Inhibitor Structure
0.0047
-
 pH 5.5, 37°C Homo sapiens 5-(3,5-dichlorophenoxy)-N-(4-pyridinyl)-2-furamide
0.0078
-
 pH 5.5, 37°C Homo sapiens 5-((4-methylphenyl)thio)-quinazoline 2,4-diamine