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

BRENDA support

Literature summary extracted from

  • Ishii, S.; Yoshioka, H.; Mannen, K.; Kulkarni, A.B.; Fan, J.Q.
    Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease (2004), Biochim. Biophys. Acta, 1690, 250-257.
    View publication on PubMed

Application

EC Number Application Comment Organism
3.2.1.22 medicine transgenic mouse expressing human mutant alpha-galactosidase R301Q in an endogenous enzyme deficient background is a biochemical animal model for studying active site specific chaperone therapy for Fabry disease Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
3.2.1.22 transgenic mouse expressing human mutant alpha-galactosidase R301Q in an endogenous enzyme deficient background is a biochemical animal model for studying active site specific chaperone therapy for Fabry disease. Oral administration of 1-deoxygalactonojirimycin, a competitive inhibitor of alpha-galactosidase A and an effective active-site specific chaperone for Fabry disease, at 0.05 mM in the drinking water of the mice for 2 weeks results in 13.8-, 3.3-, 3.9-, and 2.6fold increase in enzyme activities in the heart, kidney, spleen and liver, respectively Homo sapiens

Inhibitors

EC Number Inhibitors Comment Organism Structure
3.2.1.22 N-acetyl-D-galactosamine
-
 Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
3.2.1.22 globotriaosylceramide + H2O Homo sapiens i.e. D-Galalpha(1,4)D-Galalpha(1,4)D-Glu-ceramide D-Galalpha(1,4)D-Glu-ceramide + D-galactose
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.22 Homo sapiens
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.2.1.22 4-methylumbelliferyl alpha-D-galactoside + H2O
-
 Homo sapiens alpha-D-galactose + 4-methylumbelliferone
-
 ?
3.2.1.22 globotriaosylceramide + H2O i.e. D-Galalpha(1,4)D-Galalpha(1,4)D-Glu-ceramide Homo sapiens D-Galalpha(1,4)D-Glu-ceramide + D-galactose
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.2.1.22 alpha-galactosidase A
-
 Homo sapiens