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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.
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
GLB1 rs4678680 SNP contributes to susceptibility to develop HBV-related hepatocellular carcinoma
Ureaplasma urealyticum infection may affect the level of P34H protein expression on spermatozoa
identification of DCXR as an enzyme activity mediating chemical redox cycling suggests that it may be important in generating cytotoxic reactive oxygen species in the lung
Low expression of DCXR is associated with hepatocellular carcinoma.
beta-Gal expression in articular cartilage is associated with progressive knee osteoarthritis joint damage and is a potential indictor of disease severity.
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
The study proposes an explanation for ELNR1 uncoupling based on the age-related alterations of Neu-1 activity.
Overexpression of the novel senescence marker GLB1 in prostate cancer predicts reduced recurrence of PSA-expressing tumors.
Identification and analysis of GLB1 mutations in Indian patients with GM1 gangliosidosis.
We observed significant lower values of beta-galactosidase, FUC and tendency to decrease of MAN and GLU concentration in nasal polyps
This study analyzed patient cells with GM1 gangliosidosis and sialidosis. A novel mutation p.E186A is identified in GLB1 gene.
The activity of serum GAL was significantly higher in colon cancer patients with a history of alcohol and nicotine dependence.
EGCG is a potential inhibitor to human DCXR.
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
In the serum of patients with Lyme disease, GAL activity significantly increased (p = 0.029), and the activity of FUC had a tendency to increase (p = 0.153), compared to the control group.
In a Turkish population, mutations in GLB1 gene leads to severely deficient enzyme activity and result in infantile phenotype of the GM1 gangliosidosis.
GLB alleles have a role in GM1-gangliosidosis and Morquio B disease, and fluorous iminoalditols act as effective pharmacological chaperones against their gene products
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.
highly expressed in kidney and liver
DCXR might function in the metabolism of glucose or carbonyl compounds, and play a protective role in a kidney which is under hyperglycemic pressure.
Data describe DCXR in the bovine epididymis and reveal that its behavior differs from that found in humans. The protein is highly expressed and shows a unique pattern of expression in the male tract.
This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from ganglioside substrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and Morquio B syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.
, carbonyl reductase 2
, carbonyl reductase II
, kidney dicarbonyl reductase
, short chain dehydrogenase/reductase family 20C, member 1
, sperm surface protein P34H
, acid beta-galactosidase
, elastin receptor 1, 67kDa
, dicarbonyl/L-xylulose reductase
, diacetyl/L-xylulose reductase
, D-erythrulose reductase
, probable L-xylulose reductase
, protein P26h
, Sperm antigen P26h