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)
A deficiency of human
LIMP-2
, a receptor for lysosomal mannose 6-phosphate-independent targeting of the
beta-glucosidase
(betaGC), due to mutations in the SCARB2 gene was described only in six families presented with progressive myoclonic epilepsy and nephrotic syndrome. In one of them a mistarget of the betaGC was demonstrated. We report here the biochemical and molecular findings in a patient diagnosed with progressive myoclonic epilepsy due to a mistarget of the betaGC, probably caused by a
LIMP-2
deficiency, providing valuable information for the diagnosis of this rare disorder.
...
PMID:Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme. 1945 73
