Recombinant Human Galactocerebrosidase (GALC)

1. rs17203398 associated with mucous membrane pemphigoid PMID: 29136295
2. The authors present the structure of a glycosphingolipid-processing complex, revealing how SapA and GALC form a heterotetramer with an open channel connecting the enzyme active site to the SapA hydrophobic cavity. PMID: 29323104
3. EMT 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. PMID: 29758927
4. 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. PMID: 29481565
5. we showed for the first time the specific alteration of beta-Galctosidase (Gal), beta-Galactosylcerebrosidase (GALC) in MCI 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-peptide or Tau proteins, similar in both AD groups analyzed PMID: 28825628
6. This review illustrated The Krabbe's disease is caused by mutation in the enzyme Beta-galactocerebrosidase. PMID: 27638582
7. This is the largest expression study of GALC variants/mutations found in Newborn screening and confirmed KD cases. PMID: 27638593
8. 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. PMID: 25943734
9. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia PMID: 26915362
10. promoter hypermethylation contributed to down-regulation of GALC Gene, implicating epigenetic inactivation of GALC may play a role in tumorigenesis of cancer. PMID: 26617822
11. Case Report: compound GALC heterozygosity in a boy with infantile Krabbe disease with severe clinical course. PMID: 27442402
12. GALC was downregulated by promoter hypermethylation and contributed to the pathogenesis of EBV-associated nasopharyngeal carcinoma PMID: 26178533
13. Genetic variants near IREB2 and GALC likely contribute to genetic susceptibility to PAE associated with COPD. PMID: 25101718
14. Itis an exoglycosidase that catalyzes the hydrolysis of terminal beta-linked galactose residues and its deficiencies or mutation cause llysosomal diseases. (review) PMID: 23649392
15. Structural snapshots illustrate the catalytic cycle of beta-galactocerebrosidase, the defective enzyme in Krabbe disease. PMID: 24297913
16. 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. PMID: 23044012
17. 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 PMID: 23462331
18. GALC mutation is associated with Krabbe disease. PMID: 23276707
19. 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. PMID: 21070211
20. suggest that heterozygous deletions that reduce GALC activity are a novel mechanism increasing risk of POAG PMID: 22073273
21. 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. PMID: 20886637
22. This study analyzes the effects of Asp528Asn, Iso234Thr, and Leu629Arg mutations on GALC intracellular processing, secretion, uptake, and subcellular localization in mammalian cell lines. PMID: 20410102
23. A GALC genotype with one deleted and one polymorphic GALC activity-reducing allele can lead to enzymatic and clinical signs of LOGLD in the absence of marked GALC-PS deficiency PMID: 11814461
24. galactocerebrosidase and galactosylcerebroside have roles in cancer cells PMID: 15657896
25. confirm several mutations common to Japanese patients, the two most frequent being 12Del3Ins and I66M+I289V, which account for 37% of all mutant alleles PMID: 16607461
26. Psychosine reduces apoptotic response and causes atypical cytokine production in peripheral immune cells of Krabbe patients. PMID: 17458901
27. molecular analysis in 5 families with late onset Krabbe disease from Catania, Sicily shows that this condition is mainly due to a p.Gly41Ser substitution in the GALC gene that abolishes catalytic activity of the galactocerebrosidase enzyme PMID: 17579360

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HGNC: 4115

OMIM: 245200

KEGG: hsa:2581

STRING: 9606.ENSP00000261304

UniGene: Hs.513439