EC Number   |
BRENDA No. |
Title |
Journal |
Volume |
Pages |
Year |
Organism |
PubMed ID |
|---|
   3.2.1.46 | 751372 |
Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbes disease |
J. Neurosci. Res. |
94 |
1231-1245 |
2016 |
Homo sapiens |
27638606 |
| 3.2.1.46 | 751371 |
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 |
J. Neurosci. Res. |
94 |
1076-1083 |
2016 |
Homo sapiens |
27638593 |
| 3.2.1.46 | 750721 |
Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury |
Hum. Mol. Genet. |
26 |
2825-2837 |
2017 |
Mus musculus |
28575206 |
| 3.2.1.46 | 750343 |
Lymphocyte galactocerebrosidase activity by LC-MS/MS for post-newborn screening evaluation of Krabbe disease |
Clin. Chem. |
63 |
1363-1369 |
2017 |
Homo sapiens |
28592445 |
| 3.2.1.46 | 751373 |
Suppression of galactocerebrosidase premature termination codon and rescue of galactocerebrosidase activity in twitcher cells |
J. Neurosci. Res. |
94 |
1273-1283 |
2016 |
Homo sapiens |
27638609 |
| 3.2.1.46 | 751373 |
Suppression of galactocerebrosidase premature termination codon and rescue of galactocerebrosidase activity in twitcher cells |
J. Neurosci. Res. |
94 |
1273-1283 |
2016 |
Mus musculus |
27638609 |
| 3.2.1.46 | 171511 |
Activation of human brain galactosylceramidase by phosphatidylserine |
Biochim. Biophys. Acta |
575 |
410-420 |
1979 |
Homo sapiens |
42440 |
| 3.2.1.46 | 652984 |
Analysis of galactocerebrosidase activity in the mouse brain by a new histological staining method |
J. Neurosci. Res. |
77 |
462-464 |
2004 |
Mus musculus |
15248301 |
| 3.2.1.46 | 683796 |
Cellular uptake and lysosomal delivery of galactocerebrosidase tagged with the HIV Tat protein transduction domain |
J. Neurochem. |
104 |
1055-1064 |
2008 |
Mus musculus |
17986221 |
| 3.2.1.46 | 171517 |
Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-beta-D-galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease |
Clin. Chim. Acta |
205 |
87-96 |
1992 |
Homo sapiens |
1521344 |
