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GALC encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Additionally we are shipping Galactosylceramidase Antibodies (64) and Galactosylceramidase Proteins (9) and many more products for this protein.
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Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia (show USP14 ELISA Kits)
promoter hypermethylation contributed to down-regulation of GALC Gene, implicating epigenetic inactivation of GALC may play a role in tumorigenesis of cancer.
Case Report: compound GALC heterozygosity in a boy with infantile Krabbe disease with severe clinical course.
GALC was downregulated by promoter hypermethylation and contributed to the pathogenesis of EBV-associated nasopharyngeal carcinoma
Genetic variants near IREB2 (show IREB2 ELISA Kits) and GALC likely contribute to genetic susceptibility to PAE associated with COPD (show ARCN1 ELISA Kits).
Structural snapshots illustrate the catalytic cycle of beta-galactocerebrosidase, the defective enzyme in Krabbe disease.
Higher galactocerebrosidase activity is predictive of later symptom onset times but does not predict survival after symptom onset when controlling for the logarithm of age at onset.
study identified 4 novel mutations of the GALC gene in 2 unrelated Chinese families with Krabbe disease: one insertion mutation, c.1836_1837insT, one nonsense mutation, c.599C>A (p.S200X),one deletion mutation, c.1911 1_1911 5delGTAAG and one missense mutation, c.2041G>A
GALC mutation is associated with Krabbe disease.
suggest that heterozygous deletions that reduce GALC activity are a novel mechanism increasing risk of POAG
Data show that transgenic galactocerebrosidase (GALC) activity was mainly localized at the Purkinje cells layer in the cerebellum of the AAV-treated twitcher mice.
The results of this study indicated that the greater neurochemical pathology observed in the optic nerve than in the sciatic nerve of beta-gal (show GLB1 ELISA Kits) -/- mice is likely due to the greater glycolipid storage in optic nerve.
This study demonistrated that galactosylceramidase Deficiency also casue neuromuscular dysfunction.
results show that GALCtwi-5J, a spontaneous mutation in murine GALC precisely matches the E130K missense mutation in patients with infantile Krabbe disease
Insights into the mechanisms underlying galactosylceramidase regulation of early post-natal neurogenic niches improve our understanding of the multi-component pathology of globoid cell leukodystrophy .
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.
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.
GALC is not restricted to myelinating cells but also to several neuronal cell types in the nervous system, such as hippocampal pyramidal neurons and cerebellar neurons.
Direct administration of these viral particles into the brains of neonatal mice with globoid cell leukodystrophy resulted in sustained expression of GALC activity, improved myelination
mutant oligodendrocytes can internalize exogenous galactocerebrosidase and maintain stable myelin, demonstrating that exogenous enzyme replacement will be a key strategy in the therapy of globoid cell leukodystrophy
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.
, galactosylceramidase like
, galactocerebroside beta-galactosidase
, galactosylceramide beta-galactosidase
, galactosylceramidase (Krabbe disease)