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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 (74) and Galactosylceramidase Kits (10) and many more products for this protein.
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EMT (show ITK Proteins) phenotypes and GALC expression of CTCs are correlated with cancer metastasis and therapeutic outcomes, suggesting them to be potential markers for the prognosis of NSCLC.
Results show for the first time that during normal aging, psychosine metabolism is progressively dysfunctional, leading to its accumulation in the aging brain, especially in regions vulnerable to degeneration in Parkinson's disease (PD). These results underline the possibility that defects in the metabolism mediated by changes in GALC activity modify the risk of developing alpha-synuclein pathology in vulnerable patients.
we showed for the first time the specific alteration of beta-Galctosidase (Gal (show GAL Proteins)), beta-Galactosylcerebrosidase (GALC) in MCI (show MCIN Proteins) patients. It is notable that in above peripheral biological samples the lysosomes are more sensitive to AD cellular metabolic alteration when compared to levels of Abeta (show APP Proteins)-peptide or Tau proteins, similar in both AD groups analyzed
Enzyme activities (acid alpha-glucosidase (GAA), galactocerebrosidase (GALC), glucocerebrosidase (GBA (show GBA Proteins)), alpha-galactosidase A (GLA (show GLA Proteins)), alpha-iduronidase (IDUA (show IDUA Proteins)) and sphingomyeline phosphodiesterase-1 (SMPD-1 (show SMPD1 Proteins))) were measured on ~43,000 de-identified dried blood spot (DBS (show MCF2L Proteins)) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk
This review illustrated The Krabbe's disease is caused by mutation in the enzyme Beta-galactocerebrosidase.
This is the largest expression study of GALC variants/mutations found in Newborn screening and confirmed KD cases.
We demonstrated that a heterozygous GALC deletion does not play a significant role in the pathogenesis of normal tension glaucoma in a representative clinic-based population of South Koreans, unlike whites.
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia
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.
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 Proteins) -/- 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)