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Galactosylceramidase, GalC, galactocerebrosidase
This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, AGE, ACID, Glial Fibrillary Acidic Protein
Papers using Galactosylceramidase antibodies
Decrease of PKC precedes other cellular signs of calpain activation after transient cerebral ischemia.
Karl Mike O., In PLoS ONE, 2002
... (Covance, Emeryville, CA, 1∶500), mouse monoclonal anti-MAP2 (Sigma, St Louis, MO, 1∶500), mouse monoclonal anti-galactocerebroside (GalC) (Chemicon, Temecula, CA, 1∶200) and anti S100beta (Swant, Bellinzona, Switzerland, 1∶1000) ...
Papers on Galactosylceramidase
Krabbe disease: involvement of connexin43 in the apoptotic effects of sphingolipid psychosine on mouse oligodendrocyte precursors.
Cardile et al., Catania, Italy. In Apoptosis, Jan 2016
Twitcher is a natural mouse model of Krabbe disease containing a premature stop codon (W339X) in the β-galactosylceramidase gene.
History, genetic, and recent advances on Krabbe disease.
Cardile et al., Catania, Italy. In Gene, Feb 2015
Human symptoms and phenotypes, gene encoding for β-galactocerebrosidase and encoded protein were described.
Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation.
Macário et al., Coimbra, Portugal. In Bmj Case Rep, 2014
After 10 years of slow disease progression without response to treatment, the initial diagnosis was reviewed, and an extensive metabolic work up revealed decreased activity of galactocerebrosidase. Genetic testing of the GALC gene proved the diagnosis of Krabbe disease and found a novel mutation.
DNA promoter hypermethylation contributes to down-regulation of galactocerebrosidase gene in lung and head and neck cancers.
Chen et al., Guangzhou, China. In Int J Clin Exp Pathol, 2014
Galactocerebrosidase (GALC) is a lysosomal enzyme responsible for glycosphingolipids degradation byproducts of which are important for synthesis of apoptosis mediator ceramide.
Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.
Sefiani et al., Rabat, Morocco. In Bmc Pediatr, 2014
To date, all reported cases have been attributed to mutations in galactosylceramidase gene (GALC gene) that encodes an enzyme which degrades galactosyl-sphingolipids (galactosylceramide, psychosine), essential in myelin production.
Design of a regulated lentiviral vector for hematopoietic stem cell gene therapy of globoid cell leukodystrophy.
Biffi et al., Milano, Italy. In Mol Ther Methods Clin Dev, 2014
Globoid cell leukodystrophy (GLD) is a demyelinating lysosomal storage disease due to the deficiency of the galactocerebrosidase (GALC) enzyme.
Experimental therapies in the murine model of globoid cell leukodystrophy.
Sands et al., Saint Louis, United States. In Pediatr Neurol, 2014
BACKGROUND: Globoid cell leukodystrophy or Krabbe disease, is a rapidly progressive childhood lysosomal storage disorder caused by a deficiency in galactocerebrosidase. Galactocerebrosidase deficiency leads to the accumulation of galactosylsphingosine (psychosine), a cytotoxic lipid especially damaging to oligodendrocytes and Schwann cells.
New players in the infertility of a mouse model of lysosomal storage disease: the hypothalamus-pituitary-gonadal axis.
Luddi et al., Siena, Italy. In Front Endocrinol (lausanne), 2014
The Twitcher mouse is a model for the Krabbe disease, characterized by the deficiency of galactosylceramidase (GALC), a lysosomal enzyme that hydrolyzes the terminal galactose from galactosylceramide, a typical component of the myelin membrane.
Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature.
Rolfs et al., Warsaw, Poland. In Folia Neuropathol, 2011
Globoid cell leukodystrophy (GLD, also known as Krabbe disease), whose pathophysiology is still not completely elucidated, is an inherited, metabolic, and neurodegenerative disease, caused by the deficiency of β-galactocerebrosidase (GALC) or in very rare cases by lack of active saposin A. We describe two patients, in whom first MRI changes were not suggestive of GLD.
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
Sorge et al., Catania, Italy. In Clin Genet, 2011
The p.Gly41Ser mutation was associated with longer survival with Krabbe disease. A wide spectrum of late onset Krabbe leukodystrophy is found despite similar genotype.
Insights into Krabbe disease from structures of galactocerebrosidase.
Read et al., Cambridge, United Kingdom. In Proc Natl Acad Sci U S A, 2011
The crystal structures of GALC and the GALC-product complex, revealing a novel domain architecture with a previously uncharacterized lectin domain not observed in other hydrolases, are presented.
Maintenance of a functional hematopoietic stem cell niche through galactocerebrosidase and other enzymes.
Biffi et al., Milano, Italy. In Curr Opin Hematol, 2011
This review summarizes the recent findings about the role of galactocerebrosidase and other enzymes involved in the maintenance of a functional HSC niche.
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Filocamo et al., Genova, Italy. In Hum Mutat, 2010
This study, reporting one of the largest genotype-phenotype analyses of the GALC gene so far performed in a European Krabbe disease cohort, revealed that the Italian GALC mutational profile differs significantly from other populations of European origin.
GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease.
Hauser et al., Durham, United States. In Plos One, 2010
suggest that heterozygous deletions that reduce GALC activity are a novel mechanism increasing risk of POAG
The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche.
Biffi et al., Milano, Italy. In Blood, 2010
Data show that GALC and, possibly, other enzymes for the maintenance of niche functionality and health tightly control the concentration of these sphingolipids within HSPCs.
Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease.
Kurtzberg et al., Chapel Hill, United States. In N Engl J Med, 2005
Surviving patients showed durable engraftment of donor-derived hematopoietic cells with restoration of normal blood galactocerebrosidase levels.
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy.
Lockman et al., Minneapolis, United States. In N Engl J Med, 1998
BACKGROUND: Globoid-cell leukodystrophy is caused by a deficiency of galactocerebrosidase, which results in progressive central nervous system deterioration.
Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse.
Santos et al., In Science, 1984
The twitcher mouse is an animal model of galactosylceramidase deficiency (Krabbe's disease), a human sphingolipidosis.
Progressive accumulation of toxic metabolite in a genetic leukodystrophy.
Suzuki et al., In Science, 1984
Progressive accumulation of a cytotoxic metabolite, galactosylsphingosine (psychosine), was found in the brain of the twitcher mouse, a mutant caused by genetic deficiency of galactosylceramidase. Similar abnormal accumulation was also found in the brain of the genetic galactosylceramidase deficiency disease in the dog and in human patients (globoid cell leukodystrophy or Krabbe disease).
Enzyme replacement in grafted nerve of twitcher mouse.
Suzuki et al., In Nature, 1983
In the experiments reported here, we have attempted to determine whether the morphological improvement of grafted twitcher nerves is accompanied by an increase in activity of the enzyme galactosylceramidase.
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