Article
Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers.
Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2005
Michelin Kristiane, Wajner Alessandro, Bock Hugo, Fachel Angela, Rosenberg Roberto, Pires Ricardo Flores, Pereira Maria Luiza Saraiva, Giugliani Roberto, Coelho Janice Carneiro
Abstract excerpt
BACKGROUND: Gaucher's disease (GD) is a disorder caused by the deficiency of lysosomal beta-glucosidase, an enzyme that participates in the degradation of glycosphingolipids. Deficiency of this enzyme results in the storage of glucocerebrosides in lysosomes of macrophage. No studies are available in the literature comparing biochemical and kinetic behavior of this enzyme in leukocytes and fibroblasts from normal...
Topics
- Enzyme Stability
- Gaucher Disease
- Heterozygote
- Hot Temperature
- Humans
- Hydrogen-Ion Concentration
- Leukocytes
- Mutation
- Protein Denaturation
- beta-Glucosidase