Recombinant Human Beta-galactosidase (GLB1)

1. We confirmed a diagnosis of GM1 gangliosidosis based on GLB1 mutations and/or the deficiency of beta-galactosidase activity. We identified the first two cases by whole-exome sequencing, and then the other six cases by direct sequencing of GLB1 with enzyme analysis. The recurrent mutation, p.D448V in GLB1, accounted for 50.0% of total alleles in our cohort. PMID: 29439846
2. GLB1 rs4678680 SNP contributes to susceptibility to develop HBV-related hepatocellular carcinoma PMID: 27489354
3. beta-Gal expression in articular cartilage is associated with progressive knee osteoarthritis joint damage and is a potential indictor of disease severity. PMID: 26112901
4. This study shows that moderate widespread expression of betagal in the CNS of GM1 gangliosidosis mice is sufficient to achieve significant biochemical impact with phenotypic amelioration and extension in lifespan PMID: 25964428
5. The study proposes an explanation for ELNR1 uncoupling based on the age-related alterations of Neu-1 activity. PMID: 26086247
6. Overexpression of the novel senescence marker GLB1 in prostate cancer predicts reduced recurrence of PSA-expressing tumors. PMID: 25876105
7. Identification and analysis of GLB1 mutations in Indian patients with GM1 gangliosidosis. PMID: 25936995
8. We observed significant lower values of beta-galactosidase, FUC and tendency to decrease of MAN and GLU concentration in nasal polyps PMID: 23911047
9. This study analyzed patient cells with GM1 gangliosidosis and sialidosis. A novel mutation p.E186A is identified in GLB1 gene. PMID: 25600812
10. The activity of serum GAL was significantly higher in colon cancer patients with a history of alcohol and nicotine dependence. PMID: 24018455
11. beta-galactosidase, considered as a senescence marker, is over-expressed only in specific subtypes of pituitary adenomas, but is also present in carcinomas considered as a group PMID: 22908062
12. In a Turkish population, mutations in GLB1 gene leads to severely deficient enzyme activity and result in infantile phenotype of the GM1 gangliosidosis. PMID: 22234367
13. GLB alleles have a role in GM1-gangliosidosis and Morquio B disease, and fluorous iminoalditols act as effective pharmacological chaperones against their gene products PMID: 22033734
14. Elastin derived peptides may play a role in neovascular age-related macular degeneration by binding to and inducing neovascular phenotypes in choroidal endothelial cells through their receptor, GLB1. PMID: 22178079
15. The non-random distribution of plasma membrane-associated beta-hexosaminidase and beta-galactosidase and their localization within lipid microdomains, suggest a role of these enzymes in the local reorganization of glycosphingolipid-based signalling units. PMID: 21978926
16. We show here that mouse GLB1 has greater stability when compared to human GLB1, and that human GLB1 activity is temperature and protective-dependent on protein cathepsin A, while that of mouse GLB1 is not PMID: 22001501
17. Crystal structure of human beta-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. PMID: 22128166
18. Plasma beta-galactosidase and beta-hexosaminidase levels are higher in patients with Alzheimer's disease-type 2 diabetes mellitus (T2DM) compared to those with T2DM alone. PMID: 21321400
19. luciferase-based assay is a reliable and convenient method for screening and evaluation of chaperone effects on human beta-gal mutants PMID: 20826101
20. Results describe four mutations in Han Chinese patients that induce significant suppression of beta-galactosidase activity, correlating with severity of GM1 gangliosidosis and presence of cardiomyopathy. PMID: 20920281
21. Data show that four mutations of GLB1 could be correlated to a distinct GM1 gangliosidosis phenotype. PMID: 20175788
22. The hyperthermia-enhanced association between tropoelastin and its 67-kDa chaperone results in better deposition of elastic fibers. PMID: 20947500
23. Three new mutations in three Morquio B patients where the Trp 273 Leu mutation is absent PMID: 12393180
24. This protein was expressed locally in the media and adventitia at injected arterial segments without any significant dissemination to remote areas. PMID: 12515396
25. polymorphisms in beta 1 galactosidase is associted with type-II GM1 gangliosidosis PMID: 12644936
26. the 67-kDa elastin receptor was specifically expressed in the epithelioid or multinucleated giant cells in giant cell granuloma PMID: 14987258
27. 4 new GLB1 mutations were found: a premature stop codon in exon 2 (c.171C>G); a splicing error in intron 2 (c.245+1G>A); missense mutation in exon 4 (c.451G>T); & a splicing mutation in intron 8 (c.914+4A>G). PMID: 15365997
28. 4 new and 10 known GLB1 mutations were studied. The c.1445G>A (p.Arg482His), c.175C>T (p.Arg59Cys), c.733+2T>C, c.1736G>A (p.Gly579Asp), & c.1051C>T (p.Arg351X) mutations, affect the stabilization of PPCA by hampering the interaction of GLB1/EBP & PPCA. PMID: 15714521
29. expression and number of El-R on white blood cells using a specific 67 kDa El-R antibody, and presence of mRNA corresponding to the gene coding for El-R PMID: 15907791
30. Infantile impaired elastogenesis arose from a primary elatin binding protein (ELNR1) defectin gangliosidosis, according to molecular analysis. PMID: 16314480
31. effects of GLB1, PPCA and NEU1 gene mutations on elastogenesis in skin fibroblasts PMID: 16538002
32. Senescence Associated-beta-gal activity is expressed from GLB1, the gene encoding lysosomal beta-D-galactosidase, the activity of which is typically measured at acidic pH 4.5. PMID: 16626397
33. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients suggesting common origin for the prevalent p.R59H mutation among gypsies. PMID: 16941474
34. 14 novel mutations in the GLB1 gene were identified in patients with GM1 gangliosidosis from Argentina PMID: 17309651
35. Senescence-associated beta-galactosidase activity in human melanocytic nevi is absent in vivo. PMID: 17522702
36. Here we report the new variant p.Arg595Trp in the GLB1 gene, which markedly reduces beta-galactosidase activity when expressed in COS-1 cells. The variant was identified in the healthy father of a girl with GM1 gangliosidosis PMID: 17661814
37. GLB1 mutant alleles have roles in GM1-gangliosidosis and Morquio B patients PMID: 17664528
38. canine model is an appropriate animal model for the human late infantile form and represents a versatile system to test gene therapeutic approaches for human and canine G(M1)-gangliosidosis PMID: 18088383
39. Mutation responsible for feline G(M1) gangliosidosis was identified in beta-galactosidase resulting in an amino acid substitution at arginine 483, known to cause G(M1) gangliosidosis in humans. PMID: 18353697
40. 102 mutations distributed along the beta-galactosidase gene have been reported in GM1 gangliosidosis patients. PMID: 18524657
41. Report deregulation of versican and elastin binding protein in solar elastosis. PMID: 18704747
42. Neuraminidase caused the desialylation of both PDGF and IGF-1 receptors and diminished the intracellular signals induced by the mitogenic ligands PDGF-BB and IGF-2. PMID: 18772331
43. Elastin receptor-mediated monocyte chemoattraction induced by polysaccharide from Candida and seaweed. PMID: 18976701
44. GLB1 mutation caused Morquio type B disease with mental regression in two siblings. PMID: 19091613
45. missense mutations affecting the catalytic site of acid beta-galactosidase in Morquio B disease PMID: 19472408
46. in skin, the activation of the S-Gal/Cath-A/Neu-1 "elastin receptor" complex might dictate cell survival and skin tissue repair PMID: 19769716

Show More

Hide All

HGNC: 4298

OMIM: 230500

KEGG: hsa:2720

STRING: 9606.ENSP00000306920

UniGene: Hs.443031