Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.2.1.21 (
beta-glucosidase
)
3,280
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Methylumbelliferyl-tetra-N-acetylchitotetraoside hydrolase activity was increased 53- to 484-fold in plasma from Gaucher disease patients and no activator could be found. High activity was also measured in other lysosomal storage diseases including Krabbe disease,
Wolman disease
, GM1-gangliosidosis and to a lesser extent Niemann-Pick disease type B, but the activities were lower than the lowest values in Gaucher patients. Kinetic properties of the high activity in Gaucher plasma were similar to those of controls. It is not known whether the increased activity represents intrinsic enzyme activity or increased enzyme concentration. It is possible that this enzyme may help in the detection of Gaucher disease or in the assessment of enzyme therapy with
beta-D-glucosidase
(Ceredase).
...
PMID:Marked increase of methylumbelliferyl-tetra-N-acetylchitotetraoside hydrolase activity in plasma from Gaucher disease patients. 880 78
