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Literature summary for 3.2.1.22 extracted from

  • Hamanaka, R.; Shinohara, T.; Yano, S.; Nakamura, M.; Yasuda, A.; Yokoyama, S.; Fan, J.Q.; Kawasaki, K.; Watanabe, M.; Ishii, S.
    Rescue of mutant alpha-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes (2008), Biochim. Biophys. Acta, 1782, 408-413.
    View publication on PubMed

Application

Application Comment Organism
medicine Fabry disease is a lysosomal storage disorder caused by deficient lysosomal alpha-galactosidase A activity. Rapid degradation of mutant R301Q is observed in TgM/KO mouse fibroblasts treated with brefeldin A, and the amount of R301Q enzyme markedly increases by pretreatment with 1-deoxygalactonojirimycin starting 12 h prior to addition of brefeldin A. The enhancement of alpha-galactosidase A activity and its protein level by 1-deoxygalactonojirimycin-treatment is selectively observed in brefeldin A-treated COS-7 cells expressing R301Q Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expression in murine fibroblast Homo sapiens

Protein Variants

Protein Variants Comment Organism
R301Q mutant R301Q is rapidly degraded, but degradation is blocked by lactacystin. Rapid degradation of R301Q is observed in TgM/KO mouse fibroblasts treated with brefeldin A, and the amount of R301Q enzyme markedly increases by pretreatment with 1-deoxygalactonojirimycin starting 12 h prior to addition of brefeldin A. The enhancement of alpha-galactosidase A activity and its protein level by 1-deoxygalactonojirimycin-treatment is selectively observed in brefeldin A-treated COS-7 cells expressing R301Q Homo sapiens

Inhibitors

Inhibitors Comment Organism Structure
1-deoxygalactonojirimycin
-
Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome recombinant enzyme expressed in COS-7 cell Homo sapiens 5764
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-