Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 1 of 1
Full-Text Articles in Life Sciences
Mutant Α-Galactosidase A Enzymes Identified In Fabry Disease Patients With Residual Enzyme Activity: Biochemical Characterization And Restoration Of Normal Intracellular Processing By 1-Deoxygalactonojirimycin, Satoshi Ishii, Hui-Hwa Chang, Kunito Kawasaki, Kayo Yasuda, Hui-Li Wu, Scott Garman, Jian-Qiang Fan
Mutant Α-Galactosidase A Enzymes Identified In Fabry Disease Patients With Residual Enzyme Activity: Biochemical Characterization And Restoration Of Normal Intracellular Processing By 1-Deoxygalactonojirimycin, Satoshi Ishii, Hui-Hwa Chang, Kunito Kawasaki, Kayo Yasuda, Hui-Li Wu, Scott Garman, Jian-Qiang Fan
Scott Garman
Fabry disease is a lysosomal storage disorder caused by the deficiency of alpha-Gal A (alpha-galactosidase A) activity. In order to understand the molecular mechanism underlying alpha-Gal A deficiency in Fabry disease patients with residual enzyme activity, enzymes with different missense mutations were purified from transfected COS-7 cells and the biochemical properties were characterized. The mutant enzymes detected in variant patients (A20P, E66Q, M72V, I91T, R112H, F113L, N215S, Q279E, M296I, M296V and R301Q), and those found mostly in mild classic patients (A97V, A156V, L166V and R356W) appeared to have normal K(m) and V(max) values. The degradation of all mutants (except E59K) …