EC Number   |
Application |
Reference |
|---|
   3.2.1.46 | diagnostics |
an assay is developed that can measure small amounts of residual galactosylcerebrosidase activity in leukocytes with high accuracy and can contribute, along with genotyping, biomarker analysis, and neurological imaging, a better plan for post-newborn screening follow-up for Krabbe disease |
750343 |
| 3.2.1.46 | drug development |
enhancers of beta-galactocerebrosidase are identified as potential small molecules therapies for Krabbe's disease |
751372 |
| 3.2.1.46 | medicine |
diagnosis of Krabbe disease |
697390 |
| 3.2.1.46 | medicine |
economical and fast histochemical way to distinguish neural cells expressing galactocerebrosidase from thoses that are deficient. This method enables the assessment of enzyme activity in virally-transduced cells as well as the biodistribution of galactocerebrosidase activity in Twitcher mice under gene or cell therapy |
652984 |
| 3.2.1.46 | medicine |
electrospray mass spectrometry combined with the use of biotinylated substrate conjugates and bioaffinity purification represents a new approach for the diagnosis of lysosomal storage disease, Krabbe disease |
650861 |
| 3.2.1.46 | medicine |
enhancers of beta-galactocerebrosidase are identified as potential small molecules therapies for Krabbe Disease |
751372 |
| 3.2.1.46 | medicine |
enzymatic diagnosis |
171517 |
| 3.2.1.46 | medicine |
enzyme deficiency in globoid cell leucodystrophy or Krabbe disease |
171506, 171507, 171508, 171510, 171512, 171515, 171520, 171521 |
| 3.2.1.46 | medicine |
findings could lead to an improved therapy for globoid cell leukodystrophy, GLD, or Krabbe disease |
683796 |
| 3.2.1.46 | medicine |
globoid cell leukodystrophy, GLD or Krabbe disease, is caused by loss-of-fuction mutations in the GALC gene, injection of GALC improves the survival of the mouse model of GLD |
683453 |
