HEXB Antibody

1. a modified human hexosaminidase subunit beta (HexB), which we have termed mod2B, composed of homodimeric beta subunits that contain amino acid sequences from the alpha subunit that confer GM2 ganglioside-degrading activity and protease resistance. PMID: 27018595
2. Mutations of the HEXB gene is associated with maple syrup urine disease or Sandhoff disease. PMID: 27682710
3. report on the heterogeneity of the mutational spectrum of the HEXB gene in Indian patients with Sandhoff disease PMID: 26582265
4. The absence of beta-N-acetyl-hexosaminidase activity does not alter the differentiation of i-DCs from HSCs, but it is critical for the activation of CD4(+)T cells because knock-down of HEXA or HEXB gene causes a loss of function of i-DCs. PMID: 21997228
5. Concentration and specific activity of N-acetyl-B-hexosaminidase in palatine tonsils in patients with tonsillar hypertrophy and chronic tonsillitis both in childhood and adulthood significantly increase in comparison to healthy individuals. PMID: 23911049
6. A total of 19 HEXB variants were found in the 1092 genomes of which 5 are suspected of having a deleterious effect on hexosaminidase activity. PMID: 24461908
7. DNA from Iranian Tay-Sachs patients reveals a novel mutation in HEXB predicting a termination codon or nonsense mutation. PMID: 24518553
8. A patient with Sandhoff disease also is found to have a compound macro-deletion in HEXB. PMID: 23886397
9. A highly significant correlation of HEX-7 and %CDT has been found. Because of exclusion of the P isoform, HEX-7 could be a useful supplementary marker for detecting chronic alcohol abuse. PMID: 23906468
10. Expression of beta-hexosaminidase in the neurons of Sandhoff disease patients rescues transgenic mice from neurodegeneration. PMID: 22863301
11. minigene studies revealed the presence of a novel alternative spliced HEXB mRNA variant also present in normal cells PMID: 22848519
12. Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. PMID: 23046579
13. We describe a novel HEXB mutation that is shared among 4 patients with Sandhoff disease. PMID: 22191674
14. Plasma beta-hexosaminidase and beta-galactosidase) levels are higher in patients with Alzheimer's disease-type 2 diabetes mellitus (T2DM) compared to those with T2DM alone. PMID: 21321400
15. The X-ray crystal structure of beta-hexosaminidase B provides new insights into mutations that cause Sandhoff disease. PMID: 12706724
16. novel c.1556A>G transition in exon 12 of the HEXB gene associated with chronic Sandhoff's disease PMID: 17251047
17. Beta-hexosaminidase is a peptidoglycan hydrolase that surprisingly exerts its mycobactericidal effect at the macrophage plasma membrane during mycobacteria-induced secretion of lysosomes PMID: 18180457
18. Elevated activity of beta-hexosaminidase observed in subjects with asthma suggests that the beta-hex isozyme could take part in airway inflammation and remodeling in asthma. PMID: 18204279
19. Lysosome-related genes, such as CLN2, CLN3, and HEXB, may be involved in the pathogenesis of adipose tissue hypertrophy in TED. PMID: 18552385
20. These results reveal a new aspect of beta-hexosaminidase biology and suggest that a fully processed membrane-associated form of Hex is translocated from the lysosomal membrane to the PM by an as yet unknown mechanism. W PMID: 18588514
21. Results describe the molecular genetics of Sandhoff disease in Italy and provide new insights into the molecular basis of the disease through HEXB mutation. PMID: 18758829
22. A new D459A missense HEXB mutation was discovered in six juvenile patients with Sandhoff disease. PMID: 18930675
23. Gene therapy reduced GM(2) storage and ameliorated neuroinflammation in the brain of HexB(-/-) mice, as well as attenuated behavioral deficits. PMID: 19278737
24. Data suggest that cigarette smoking can inhibit, by the influence on N-acetyl-beta-hexosaminidase activity, catabolism of oligosaccharide chains in cancer tissues. PMID: 19615986

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HGNC: 4879

OMIM: 268800

KEGG: hsa:3074

STRING: 9606.ENSP00000261416

UniGene: Hs.69293