Literature summary for 3.2.1.22 extracted from

Shin, S.H.; Kluepfel-Stahl, S.; Cooney, A.M.; Kaneski, C.R.; Quirk, J.M.; Schiffmann, R.; Brady, R.O.; Murray, G.J.
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone (2008), Pharmacogenet. Genomics, 18, 773-780.

Search for more literature for 3.2.1.22

Activating Compound

Activating Compound	Comment	Organism	Structure
1-deoxygalactonojirimycin	T-cells from normal controls resond with 28% increase in alpha-galactosidase activity to treatment with 1-deoxygalactonojirimycin. In cells from patients with Fabry disease, response depends on he mutantion and ranges from no increase to fully normal activity. In normal cells and in cells from patients responding more than 25%, an increase in the mature lysosomal form of enzyme is observed after treatment. In the group of intermediate respoders with increases of 7-25% in activity upon treatment, an increase in protein stain but incomplete processing of the enzyme to the mature form is detected	Homo sapiens

Application

Application	Comment	Organism
medicine	T-cells from normal controls resond with 28% increase in alpha-galactosidase activity to treatment with 1-deoxygalactonojirimycin. In cells from patients with Fabry disease, response depends on he mutantion and ranges from no increase to fully normal activity. In normal cells and in cells from patients responding more than 25%, an increase in the mature lysosomal form of enzyme is observed after treatment. In the group of intermediate respoders with increases of 7-25% in activity upon treatment, an increase in protein stain but incomplete processing of the enzyme to the mature form is detected	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patients with Fabry disease	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
T-lymphocyte	-	Homo sapiens	-

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)