Article
Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease.
Biochemical and biophysical research communications - 30 Dec 1993
Ishii S, Kase R, Sakuraba H, Suzuki Y
Abstract excerpt
The expression product of a mutant alpha-galactosidase gene, Q279E (279Gln-->Glu), found in an atypical variant (cardiac form) of Fabry disease, was purified and characterized. It had kinetic properties similar to those of normal alpha-galactosidase, but was markedly thermolabile at neutral pH. Galactose and melibiose at high concentrations stabilized the mutant enzyme in vitro. Its catalytic activity was 15% of...
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