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  • Title: Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease.
    Author: Ishii S, Kase R, Sakuraba H, Suzuki Y.
    Journal: Biochem Biophys Res Commun; 1993 Dec 30; 197(3):1585-9. PubMed ID: 7904161.
    Abstract:
    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 that for the normal enzyme, when it was expressed in COS-1 cells at 37 degrees C. The activity increased at 30 degrees C or in the presence of galactose at 37 degrees C. An increase was also observed in lymphoblasts from a patient with this mutation in the presence of galactose or melibiose. We conclude that this mutant protein is posttranslationally inactivated under the neutral conditions in the cells. The possibility of a new therapeutic approach is suggested.
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