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We confirmed a diagnosis of GM1 gangliosidosis based on GLB1 (show GLB1 Proteins) mutations and/or the deficiency of beta-galactosidase (show GLB1 Proteins) activity. We identified the first two cases by whole-exome sequencing, and then the other six cases by direct sequencing of GLB1 (show GLB1 Proteins) with enzyme analysis. The recurrent mutation, p.D448V in GLB1 (show GLB1 Proteins), accounted for 50.0% of total alleles in our cohort.
we showed for the first time the specific alteration of beta-Galctosidase (Gal (show GAL Proteins)), beta-Galactosylcerebrosidase (GALC (show GALC Proteins)) 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
GLB1 (show GLB1 Proteins) 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 (show GLB1 Proteins) 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 (show NEU1 Proteins) activity.
Overexpression of the novel senescence marker GLB1 in prostate cancer predicts reduced recurrence of PSA-expressing tumors.
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