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. G...
Topics
- Age of Onset
- Amino Acid Sequence
- Animals
- Cell Line
- Enzyme Stability
- Fabry Disease
- Galactose
- Gene Expression
- Genetic Variation
- Glutamates
- Glutamic Acid
- Glutamine
- Humans
- Hydrogen-Ion Concentration
- Kinetics
- Lymphocytes
- Melibiose
- Point Mutation