Article
Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease.
The Biochemical journal - 15 Oct 1994
Meivar-Levy I, Horowitz M, Futerman A H
Abstract excerpt
Glucosylceramide, a degradation product of complex glycosphingolipids, is hydrolysed in lysosomes by glucocerebrosidase (GlcCerase). Mutations in the human GlcCerase gene cause a reduction in GlcCerase activity and accumulation of glucosylceramide, which results in the onset of Gaucher disease, the most common lysosomal storage disease. Significant clinical heterogeneity is observed in Gaucher disease, with three...
Topics
- Cells, Cultured
- Chromatography, Thin Layer
- Fibroblasts
- Gaucher Disease
- Glucosylceramidase
- Glucosylceramides
- Humans
- Hydrolysis
- Lysosomes
- Microscopy, Fluorescence