EC Number |
Title |
Organism |
---|
3.2.1.46 | Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbes disease |
Homo sapiens |
3.2.1.46 | Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbes disease |
Homo sapiens |
3.2.1.46 | Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury |
Mus musculus |
3.2.1.46 | Lymphocyte galactocerebrosidase activity by LC-MS/MS for post-newborn screening evaluation of Krabbe disease |
Homo sapiens |
3.2.1.46 | Suppression of galactocerebrosidase premature termination codon and rescue of galactocerebrosidase activity in twitcher cells |
Homo sapiens |
3.2.1.46 | Suppression of galactocerebrosidase premature termination codon and rescue of galactocerebrosidase activity in twitcher cells |
Mus musculus |
3.2.1.46 | Activation of human brain galactosylceramidase by phosphatidylserine |
Homo sapiens |
3.2.1.46 | Analysis of galactocerebrosidase activity in the mouse brain by a new histological staining method |
Mus musculus |
3.2.1.46 | Cellular uptake and lysosomal delivery of galactocerebrosidase tagged with the HIV Tat protein transduction domain |
Mus musculus |
3.2.1.46 | Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-beta-D-galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease |
Homo sapiens |