EC Number   |
General Information |
Reference |
|---|
   3.2.1.45 | malfunction |
a lower enzyme activity precedes development of Parkinson's disease |
751201 |
| 3.2.1.45 | malfunction |
enzyme deficiency leads to abnormal accumulation of glucosyl ceramide in lysosomes and the development of the lysosomal storage disease known as Gauchers disease |
750910 |
| 3.2.1.45 | malfunction |
enzyme deficiency results in Gaucher disease |
749459 |
| 3.2.1.45 | malfunction |
enzyme enzymatic activity is involved in the development of Parkinson's disease symptoms |
749862 |
| 3.2.1.45 | malfunction |
Gaucher disease is a prevalent lysosomal storage disease characterized by a deficiency in the activity of lysosomal acid beta-glucosidase |
730656 |
| 3.2.1.45 | malfunction |
Gaucher disease is a progressive lysosomal storage disorder caused by the deficiency of glucocerebrosidase leading to the dysfunction in multiple organ systems |
706420 |
| 3.2.1.45 | malfunction |
Gaucher disease is caused by enzyme deficiency |
749625 |
| 3.2.1.45 | malfunction |
Gaucher disease is caused by the dysfunction of glucocerebrosidase |
705760 |
| 3.2.1.45 | malfunction |
isoform GBA2 mutations are associated with some forms of hereditary spastic paraplegia and inherited cerebellar ataxia |
749981 |
| 3.2.1.45 | malfunction |
loss of isoform GBA1 causes Gauchers disease. Defective GBA1 enzyme activity in humans is also associated with an increased risk of multiple myeloma and other malignancies |
749981 |
