EC Number   |
Application |
Reference |
|---|
   3.2.1.50 | medicine |
a minimum threshold of about 20% of wild type residual enzyme activity levels is required to completely prevent accumulation of heparan sulfate in Sanfilippo syndrome type B patient fibroblasts. BMN 250 cellular uptake under very limiting and transient exposure conditions occurs in sufficient amounts to reach this threshold |
751986 |
| 3.2.1.50 | medicine |
antenatal diagnosis of heritable lysosomal storage diseases |
208682 |
| 3.2.1.50 | medicine |
expression of human NaGlu in the central nervous system of mucopolysaccharidosis IIIB mice by an i.c. injection approach. The treatment slows the disease progression by mediating widespread recombinant NaGlu expression in the central nervous system, resulting in the reduction of brain lysosomal storage pathology, significantly improved cognitive function and prolonged survival. The therapeutic benefit of i.c. recombinant adeno-associated viral vector delivery is dose-dependent and can be attribute solely to the central nervous system transduction because the procedure does not lead to detectable transduction in somatic tissues |
715785 |
| 3.2.1.50 | medicine |
the enzyme is a possible candidate for enzyme replacement therapy, a method for cell entry or transduction has to be found |
666847 |
| 3.2.1.50 | medicine |
the use of secreted enzyme in future enzyme and gene replacement therapy protocols will by severely limited due to its small degree of mannose-6-phosphorylation |
653733 |
