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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… Expand
National Institutes of Health

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GALC geneGalactocerebrosidase, humanGloboid cell leukodystrophyIn Blood
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lactosylceramidase

Papers overview

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Highly Cited
2016
Highly Cited
2016
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry☆
Background There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the… Expand
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Highly Cited
2012
Highly Cited
2012
Extended normal life after AAVrh10-mediated gene therapy in the mouse model of Krabbe disease.
Globoid cell leukodystrophy (GLD) or Krabbe disease is a neurodegenerative disorder caused by the deficiency of the lysosomal… Expand
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Highly Cited
2011
Highly Cited
2011
Mesenchymal lineage stem cells have pronounced anti-inflammatory effects in the twitcher mouse model of Krabbe's disease.
The twitcher mouse is an animal model of Krabbe's disease (KD), which is a neurodegenerative lysosomal storage disorder resulting… Expand
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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… Expand
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Highly Cited
2007
Highly Cited
2007
Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy.
Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a devastating, degenerative neurological disorder. It is… Expand
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2006
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… Expand
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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.
Globoid cell leukodystrophy (GLD) or Krabbe disease is a neurodegenerative disorder caused by a deficiency of… Expand
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2001
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… Expand
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Highly Cited
2000
Highly Cited
2000
Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
A BSTRACT Background Globoid-cell leukodystrophy is caused by a deficiency of galactocerebrosidase, which results in progressive… Expand
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1997
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… Expand
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