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GALACTOSYLCERAMIDASE

Known as: Galactocerebrosidase, D-Galactosyl-N-acylsphingosine galactohydrolase, Galactosidase, Galactosylceramide 
An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY… 
National Institutes of Health

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11 relations
GALC geneGalactocerebrosidase, humanGloboid cell leukodystrophyIn Blood

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lactosylceramidase

Papers overview

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Highly Cited
2010
Highly Cited
2010
Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones
Globoid cell leukodystrophy (GLD) (Krabbe disease) is an autosomal recessive, degenerative, lysosomal storage disease caused by a… 
Highly Cited
2006
Highly Cited
2006
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation
AbstractKrabbe disease is an autosomal recessive leukodystrophy. It is pathologically characterized by demyelination of the… 
Highly Cited
2005
Highly Cited
2005
AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy.
2002
2002
Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging
Krabbe's disease (globoid cell leucodystrophy) is a disorder involving the white matter of the peripheral and central nervous… 
Highly Cited
2001
Highly Cited
2001
Intraventricular administration of recombinant adenovirus to neonatal twitcher mouse leads to clinicopathological improvements
Twitcher mouse is a murine model of human globoid cell leukodystrophy (Krabbe disease), which is characterized by a genetic… 
Highly Cited
1998
Highly Cited
1998
Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta).
Globoid cell leukodystrophy, or Krabbe disease, is a severe disorder of the peripheral and central nervous system myelin caused… 
Highly Cited
1997
Highly Cited
1997
Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate.
Krabbe disease or globoid cell leukodystrophy (GLD) is a severe lysosomal disorder resulting from the deficiency of… 
Highly Cited
1996
Highly Cited
1996
Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers.
Globoid cell leukodystrophy, or Krabbe disease, is a severe, autosomal recessive disorder resulting from a deficiency of… 
Highly Cited
1995
Highly Cited
1995
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.
Galactocerebrosidase (GALC) activity is deficient in all patients with globoid cell leukodystrophy (GLD). While most patients… 
Highly Cited
1995
Highly Cited
1995
Structure and organization of the human galactocerebrosidase (GALC) gene.
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