Literature summary for 3.2.1.22 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.

Application

Application	Comment	Organism
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)

Cloned (Comment)	Organism
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

Cloned (Comment)

Organism

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

Inhibitors	Comment	Organism	Structure
N-acetyl-D-galactosamine	-	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
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

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
4-methylumbelliferyl alpha-D-galactoside + H2O	-	Homo sapiens	alpha-D-galactose + 4-methylumbelliferone	-	?
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

Synonyms	Comment	Organism
alpha-galactosidase A	-	Homo sapiens