HEXB

Summary

Gene Symbol: HEXB
Description: hexosaminidase subunit beta
Alias: ENC-1AS, HEL-248, HEL-S-111, beta-hexosaminidase subunit beta, HCC-7, N-acetyl-beta-glucosaminidase subunit beta, beta-N-acetylhexosaminidase subunit beta, beta-hexosaminidase beta-subunit, cervical cancer proto-oncogene 7 protein, epididymis luminal protein 248, epididymis secretory protein Li 111, hexosaminidase B (beta polypeptide), hexosaminidase subunit B
Species: human
Products:     HEXB

Top Publications

  1. Neote K, McInnes B, Mahuran D, Gravel R. Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. J Clin Invest. 1990;86:1524-31 pubmed
    ..Both isozyme activities are deficient in Sandhoff disease, owing to mutations of the HEXB gene encoding the common beta-subunit...
  2. Zampieri S, Filocamo M, Buratti E, Stroppiano M, Vlahovicek K, Rosso N, et al. Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. Neurogenetics. 2009;10:49-58 pubmed publisher
    ..Italian patients affected with Sandhoff disease (SD), a recessively inherited disorder caused by mutations in HEXB gene. We identified 11 different mutations of which six are novel: one large deletion of 2,406 nt, (c...
  3. Bolhuis P, Bikker H. Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease. Hum Genet. 1992;90:328-9 pubmed
  4. Zhang Z, Wakamatsu N, Akerman B, Mules E, Thomas G, Gravel R. A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease. Hum Mol Genet. 1995;4:777-80 pubmed
  5. Mark B, Mahuran D, Cherney M, Zhao D, Knapp S, James M. Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease. J Mol Biol. 2003;327:1093-109 pubmed
  6. Meekrathok P, Stubbs K, Suginta W. Potent inhibition of a GH20 exo-?-N-acetylglucosaminidase from marine Vibrio bacteria by reaction intermediate analogues. Int J Biol Macromol. 2018;115:1165-1173 pubmed publisher
    ..in bacteria and in eukaryotic glycosphingolipid metabolism, with genetic defects in human GlcNAcases (HexA and HexB) resulting in Tay-Sachs and Sandhoff diseases, respectively...
  7. Abo Ouf H, Hooper A, White E, Janse van Rensburg H, Trigatti B, Igdoura S. Deletion of tumor necrosis factor-? ameliorates neurodegeneration in Sandhoff disease mice. Hum Mol Genet. 2013;22:3960-75 pubmed publisher
    ..The Hexb-/- mouse model of SD shows a progressive neurodegenerative phenotype similar to the human equivalent...
  8. Chen Y, Jian J, Hettinghouse A, Zhao X, Setchell K, Sun Y, et al. Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease. J Mol Med (Berl). 2018;96:1359-1373 pubmed publisher
    ..In addition, HexA, but not HexB, was aggregated in PGRN-deficient cells...
  9. Ou L, Przybilla M, Whitley C. Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease. Mol Genet Metab. 2019;126:151-156 pubmed publisher
    Sandhoff disease (SD) results from mutations in the HEXB gene, subsequent deficiency of N-acetyl-β-hexosaminidase (Hex) and accumulation of GM2 gangliosides. SD leads to progressive neurodegeneration and early death...

More Information

Publications122 found, 100 shown here

  1. Niemir N, Rouvière L, Besse A, Vanier M, Dmytrus J, Marais T, et al. Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice. Hum Mol Genet. 2018;27:954-968 pubmed publisher
    ..A mouse model of Hexb deficiency reproduces the key pathognomonic features of SD patients with severe ubiquitous lysosomal dysfunction, ..
  2. Bolhuis P, Oonk J, Kamp P, Ris A, Michalski J, Overdijk B, et al. Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease. Neurology. 1987;37:75-81 pubmed
    ..These data indicate a destabilizing mutation in the beta-locus. Substrate-specific effects of this mutation were demonstrated by the urinary oligosaccharide pattern. ..
  3. Proia R, d Azzo A, Neufeld E. Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts. J Biol Chem. 1984;259:3350-4 pubmed
    ..We suggest that association with beta-chains is necessary not only for acquisition of catalytic activity but also for transport of alpha-chains to lysosomes. ..
  4. Mahdieh N, Mikaeeli S, Tavasoli A, Rezaei Z, Maleki M, Rabbani B. Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis. Clin Neurol Neurosurg. 2018;167:43-53 pubmed publisher
    ..An update of HEXB gene variants concerning genotype, phenotype and in silico analysis are presented...
  5. Mahuran D, Neote K, Klavins M, Leung A, Gravel R. Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits. J Biol Chem. 1988;263:4612-8 pubmed
  6. Banerjee P, Boyers M, Berry Kravis E, Dawson G. Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient. J Biol Chem. 1994;269:4819-26 pubmed
  7. Gerovska D, Araúzo Bravo M. Does mouse embryo primordial germ cell activation start before implantation as suggested by single-cell transcriptomics dynamics?. Mol Hum Reprod. 2016;22:208-25 pubmed publisher
    ..We also identified new transitory E3.5 EPI markers (Sgk1, Mal, Ubxn2a, Atg16l2, Gm13102, Tcfap2c, Hexb, Slc1a1, Svip, Liph and Mier3), six new stable PE markers (Sdc4, Cpn1, Dkk1, Havcr1, F2r/Par1 and Slc7a6os) as well ..
  8. Ha T, Kim Y, Lee G. Understanding of altered N-glycosylation-related gene expression in recombinant Chinese hamster ovary cells subjected to elevated ammonium concentration by digital mRNA counting. Biotechnol Bioeng. 2015;112:1583-93 pubmed publisher
    ..Among these queried genes, thirteen genes (gale, nans, gpi, man2a1, b4galt5, b4galt7, st3gal2, st3gal5, glb1, hexa, hexb, neu1, and neu3) were up-regulated over 1...
  9. Tao J, Liu W, Shang G, Zheng Y, Huang J, Lin R, et al. MiR-207/352 regulate lysosomal-associated membrane proteins and enzymes following ischemic stroke. Neuroscience. 2015;305:1-14 pubmed publisher
    ..expression profiles, we found 47 genes of miRNA targets, including lysosomal-associated membrane protein 2 (LAMP2), Hexb, Bcl2, etc...
  10. Angeles Han S, Yeh S, Patel P, Duong D, Jenkins K, Rouster Stevens K, et al. Discovery of tear biomarkers in children with chronic non-infectious anterior uveitis: a pilot study. J Ophthalmic Inflamm Infect. 2018;8:17 pubmed publisher
    ..from children with JIA-U had higher expression of proteins associated with inflammatory arthritis (SEMA3G, TIMP1, HEXB, ERN1, and SAA1) than tears from those with I-CAU...
  11. Fujimaru M, Tanaka A, Choeh K, Wakamatsu N, Sakuraba H, Isshiki G. Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease. Hum Genet. 1998;103:462-9 pubmed
    ..The mutation in this study is most likely to abolish lariat formation because the artificial site of the high splice site score did not improve splicing efficiency...
  12. Tropak M, Yonekawa S, Karumuthil Melethil S, Thompson P, Wakarchuk W, Gray S, et al. Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo. Mol Ther Methods Clin Dev. 2016;3:15057 pubmed publisher
    Tay-Sachs or Sandhoff disease result from mutations in either the evolutionarily related HEXA or HEXB genes encoding respectively, the α- or β-subunits of β-hexosaminidase A (HexA)...
  13. Stajnko A, Falnoga I, Tratnik J, Mazej D, Jagodic M, Krsnik M, et al. Low cadmium exposure in males and lactating females-estimation of biomarkers. Environ Res. 2017;152:109-119 pubmed publisher
    ..Evidence that A1M can be positively related to Cd, smoking (current or pre-pregnancy), Pb, and Se status, points to the versatile biological functions of A1M. ..
  14. Norflus F, Yamanaka S, Proia R. Promoters for the human beta-hexosaminidase genes, HEXA and HEXB. DNA Cell Biol. 1996;15:89-97 pubmed
    Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively...
  15. Yang W, Aziz P, Heithoff D, Mahan M, Smith J, Marth J. An intrinsic mechanism of secreted protein aging and turnover. Proc Natl Acad Sci U S A. 2015;112:13657-62 pubmed publisher
    ..including neuraminidase 1 (Neu1), neuraminidase 3 (Neu3), beta-galactosidase 1 (Glb1), and hexosaminidase B (HexB), possess hydrolytic activities that temporally remodel N-glycan structures, progressively exposing different ..
  16. Lee H, Chi C, Tsai C. Early cardiac involvement in an infantile Sandhoff disease case with novel mutations. Brain Dev. 2017;39:171-176 pubmed publisher
    ..The lysosomal enzymatic activities showed a marked reduction of ?-hexosaminidase B (HEXB) activity. Two novel mutations of HEXB gene were identified. One of the mutations was a c...
  17. White E, Trigatti B, Igdoura S. Suppression of NK and CD8+ T cells reduces astrogliosis but accelerates cerebellar dysfunction and shortens life span in a mouse model of Sandhoff disease. J Neuroimmunol. 2017;306:55-67 pubmed publisher
    ..The Hexb-/- mouse model recapitulates human disease and leads to fatal neurodegeneration and neuroinflammation...
  18. Xu B, Gao Y, Zhan S, Ge W. Quantitative proteomic profiling for clarification of the crucial roles of lysosomes in microbial infections. Mol Immunol. 2017;87:122-131 pubmed publisher
    ..m treated group, SRC, GLB1, HEXA and HEXB in the HSV-1 treated group and GLB1, CTSA, CTSB, HEXA and HEXB in the VSV treated group, which are involved in ..
  19. Allende M, Cook E, Larman B, Nugent A, Brady J, Golebiowski D, et al. Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation. J Lipid Res. 2018;59:550-563 pubmed publisher
    ..iPS cells from the fibroblasts of an infantile Sandhoff disease patient, then corrected one of the mutant HEXB alleles in those iPS cells using CRISPR/Cas9 genome-editing technology, thereby creating isogenic controls...
  20. Castranio E, Wolfe C, Nam K, Letronne F, Fitz N, Lefterov I, et al. ABCA1 haplodeficiency affects the brain transcriptome following traumatic brain injury in mice expressing human APOE isoforms. Acta Neuropathol Commun. 2018;6:69 pubmed publisher
    ..with immune response and featured hub genes that were microglia-specific, including Trem2, Tyrobp, Cd68 and Hexb. The modules positively correlated with APOE4 isoform and negatively to Abca1 haplodeficient mice represented "..
  21. Vakulskas C, Dever D, Rettig G, Turk R, Jacobi A, Collingwood M, et al. A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells. Nat Med. 2018;24:1216-1224 pubmed publisher
    ..HiFi Cas9 induces robust AAV6-mediated gene targeting at five therapeutically relevant loci (HBB, IL2RG, CCR5, HEXB, and TRAC) in human CD34+ hematopoietic stem and progenitor cells (HSPCs) as well as primary T cells...
  22. Duan Y, Liu T, Zhou Y, Dou T, Yang Q. Glycoside hydrolase family 18 and 20 enzymes are novel targets of the traditional medicine berberine. J Biol Chem. 2018;293:15429-15438 pubmed publisher
    ..Berberine was also found to be an inhibitor of human GH20 Hex (HsHexB), human GH18 chitinase (HsCht and acidic mammalian chitinase), and insect GH18 chitinase (OfChtI)...
  23. Rangaraju S, Dammer E, Raza S, Gao T, Xiao H, Betarbet R, et al. Quantitative proteomics of acutely-isolated mouse microglia identifies novel immune Alzheimer's disease-related proteins. Mol Neurodegener. 2018;13:34 pubmed publisher
    ..with previously known (Apoe, Clu and Htra1) as well as previously unreported relevance to AD biology (Cotl1 and Hexb)...
  24. Neote K, Brown C, Mahuran D, Gravel R. Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase. J Biol Chem. 1990;265:20799-806 pubmed
    ..In this study, we identified the mRNA cap site, confirming the presence of all three AUGs in the majority of HEXB mRNA...
  25. Hara Y, Ioannou P, Drousiotou A, Stylianidou G, Anastasiadou V, Suzuki K. Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus. Hum Genet. 1994;94:136-40 pubmed
    ..An extensive evaluation of the prevalence of this mutant allele in this community is being initiated. ..
  26. Baek R, Martin D, Cox N, Seyfried T. Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease. Lipids. 2009;44:197-205 pubmed publisher
    ..disease that arises from an autosomal recessive mutation in the gene for the beta-subunit of beta-Hexosaminidase A (Hexb gene), which catabolizes ganglioside GM2 within lysosomes...
  27. Proia R. Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes. Proc Natl Acad Sci U S A. 1988;85:1883-7 pubmed
    ..This extensive sharing of intron placement demonstrates that the alpha and beta chains evolved by way of the duplication of a common ancestor. ..
  28. Ogawa Y, Furusawa E, Saitoh T, Sugimoto H, Omori T, Shimizu S, et al. Inhibition of astrocytic adenosine receptor A2A attenuates microglial activation in a mouse model of Sandhoff disease. Neurobiol Dis. 2018;118:142-154 pubmed publisher
    ..It is caused by mutation of the HEXB gene, which reduces ?-hexosaminidase (Hex) enzymatic activity in lysosomes, leading to accumulation of the ..
  29. Tavasoli A, Parvaneh N, Ashrafi M, Rezaei Z, Zschocke J, Rostami P. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations. Orphanet J Rare Dis. 2018;13:130 pubmed publisher
    ..Enzyme studies showed marked reductions of both Hexosaminidase A and B in all patients. HEXB gene mutation studies performed in eight patients identified 6 different mutations, which five of them were novel...
  30. Adamali H, Somani I, Huang J, Mahuran D, Gravel R, Trasler J, et al. I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency. J Androl. 1999;20:779-802 pubmed
    ..Disruption of the Hexb gene encoding the beta-subunit of Hex has led to the generation of a mouse model of human Sandhoff disease that ..
  31. Suzuki K, Yamaguchi A, Yamanaka S, Kanzaki S, Kawashima M, Togo T, et al. Accumulated ?-synuclein affects the progression of GM2 gangliosidoses. Exp Neurol. 2016;284:38-49 pubmed publisher
    ..ASyn also accumulates in the neurons of Sandhoff disease (SD) patients and SD model mice (Hexb-/- ASyn+/+ mice)...
  32. Dana S, Wasmuth J. Selective linkage disruption in human-Chinese hamster cell hybrids: deletion mapping of the leuS, hexB, emtB, and chr genes on human chromosome 5. Mol Cell Biol. 1982;2:1220-8 pubmed
    ..by using these unique selective pressures have enabled us to determine the order and regional location of the leuS, hexB, emtB, and chr genes on human chromosome 5...
  33. Gomez Lira M, Sangalli A, Mottes M, Perusi C, Pignatti P, Rizzuto N, et al. A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. Hum Genet. 1995;96:417-22 pubmed
    ..Mutation G890A (Cys297Tyr) is a novel mutation which presumably causes altered processing of the pro beta chain. ..
  34. Benzer M, Alpay H, Baykan Ã, Erdem A, Demir I. Serum NGAL, cystatin C and urinary NAG measurements for early diagnosis of contrast-induced nephropathy in children. Ren Fail. 2016;38:27-34 pubmed publisher
    ..Sequential measurement of biomarkers may contribute to more accurate diagnosis of AKI. ..
  35. Ogawa Y, Kaizu K, Yanagi Y, Takada S, Sakuraba H, Oishi K. Abnormal differentiation of Sandhoff disease model mouse-derived multipotent stem cells toward a neural lineage. PLoS ONE. 2017;12:e0178978 pubmed publisher
    In Sandhoff disease (SD), the activity of the lysosomal hydrolytic enzyme, ?-hexosaminidase (Hex), is lost due to a Hexb gene defect, which results in the abnormal accumulation of the substrate, GM2 ganglioside (GM2), in neuronal cells, ..
  36. Gaignard P, Fagart J, Niemir N, Puech J, Azouguene E, Dussau J, et al. Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. Gene. 2013;512:521-6 pubmed publisher
    Sandhoff disease (SD) is an autosomal recessive lysosomal storage disease caused by mutations in the HEXB gene encoding the beta subunit of hexosaminidases A and B, two enzymes involved in GM2 ganglioside degradation...
  37. Kuroki Y, Itoh K, Nadaoka Y, Tanaka T, Sakuraba H. A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease. Biochem Biophys Res Commun. 1995;212:564-71 pubmed
    ..An immunofluorescence study revealed the accumulation of GM2 ganglioside in cultured fibroblasts from the patient with this mutation...
  38. Proia R, Neufeld E. Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease. Proc Natl Acad Sci U S A. 1982;79:6360-4 pubmed
  39. Kyrkanides S, Brouxhon S, Tallents R, Miller J, Olschowka J, O Banion M. Conditional expression of human ?-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation. J Neuroinflammation. 2012;9:186 pubmed
    ..for neurodegeneration and neuroinflammation by performing ?-hexosaminidase rescue experiments in neurons of HexB(-/-) mice...
  40. Neote K, Bapat B, Dumbrille Ross A, Troxel C, Schuster S, Mahuran D, et al. Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase. Genomics. 1988;3:279-86 pubmed
    The lysosomal enzyme beta-hexosaminidase A contains alpha- and beta-subunits that are encoded by the HEXA and HEXB genes, respectively. The human HEXB gene has been isolated and characterized. It is 45 kb long and is split into 14 exons...
  41. Baker D, Blackburn D, Keatinge M, Sokhi D, Viskaitis P, Heath P, et al. Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 (G93A) mouse model of amyotrophic lateral sclerosis. Front Cell Neurosci. 2015;9:410 pubmed publisher
    ..Our data reveal that SOD1(G93A) astrocytes are characterized more by a loss of supportive function than a toxic phenotype during ALS disease progression and future studies should focus upon restorative therapies. ..
  42. Qian F, Guo G, Li Y, Kulka M. A novel eremophilane lactone inhibits FcεRI-dependent release of pro-inflammatory mediators: structure-dependent bioactivity. Inflamm Res. 2016;65:303-11 pubmed publisher
    ..These results indicate that F-1a inhibits degranulation of RBL-2H3 cells activated via the high affinity IgE receptor, FcεRI, and that this effect is dependent upon hydroxylation of the third carbon. ..
  43. Mugnaini J, Pereyra M, Dodelson de Kremer R, Gamboni B, Argaraña C, Oller Ramírez A. [Juvenile form of Sandhoff disease: first case reported in Argentina]. Arch Argent Pediatr. 2017;115:e298-e301 pubmed publisher
    Sandhoff disease is a neurodegenerative, lysosomal and autosomal recessive disease caused by mutations in the HEXB gene. Three forms are recognized: infantile, juvenile and adult...
  44. Schuette C, Weisgerber J, Sandhoff K. Complete analysis of the glycosylation and disulfide bond pattern of human beta-hexosaminidase B by MALDI-MS. Glycobiology. 2001;11:549-56 pubmed
    ..Mutation in the HEXB gene lead to Sandhoff disease, a glycolipid storage disorder characterized by severe neurodegeneration...
  45. Nauta F, Boertien W, Bakker S, van Goor H, van Oeveren W, de Jong P, et al. Glomerular and tubular damage markers are elevated in patients with diabetes. Diabetes Care. 2011;34:975-81 pubmed publisher
    ..Only urinary H-FABP is associated with eGFR independently of albuminuria and, therefore, may be a promising urinary damage marker to assess diabetic kidney disease. ..
  46. Wang P, Henthorn P, Galban E, Lin G, Takedai T, Casal M. Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene. J Vet Intern Med. 2017;: pubmed publisher
    ..Clinical signs can be variable and are not pathognomonic for the specific, causal deficiency...
  47. O Dowd B, Quan F, Willard H, Lamhonwah A, Korneluk R, Lowden J, et al. Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase. Proc Natl Acad Sci U S A. 1985;82:1184-8 pubmed
    ..totaling 43 kilobases (kb), all of which were mapped to chromosome 5 in somatic cell hybrids, as expected of the HEXB gene. The pHex cDNA also hybridized to a 2...
  48. Tews I, Perrakis A, Oppenheim A, Dauter Z, Wilson K, Vorgias C. Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease. Nat Struct Biol. 1996;3:638-48 pubmed
    ..The structure allows us to model the catalytic domain of the homologous hexosaminidases to give a structural rationale to pathogenic mutations that underlie Tay-Sachs and Sandhoff disease...
  49. Mahuran D. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta. 1999;1455:105-38 pubmed
    ..Whereas two of these proteins are the alpha- (HEXA gene) and beta- (HEXB) subunits of beta-hexosaminidase A, the third is a small glycolipid transport protein, the GM2 activator protein (..
  50. Qin W, Gan L, Xia R, Dong W, Sun S, Zhu G, et al. Promoter identification and analysis of key glycosphingolipid biosynthesis-globo series pathway genes in piglets. Genet Mol Res. 2017;16: pubmed publisher
    Glycosphingolipid biosynthesis-globo series pathway genes (FUT1, FUT2, ST3GAL1, HEXA, HEXB, B3GALNT1, and NAGA) play an important regulatory role in the defense against Escherichia coli F18 in piglets...
  51. Korneluk R, Mahuran D, Neote K, Klavins M, O Dowd B, Tropak M, et al. Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease. J Biol Chem. 1986;261:8407-13 pubmed
    ..These data suggest a common origin of the HEXA and HEXB genes and account for the similar substrate specificities of the alpha-dimer subunit, hexosaminidase S, and ..
  52. Zhang W, Zeng H, Huang Y, Xie T, Zheng J, Zhao X, et al. Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease. Metab Brain Dis. 2016;31:861-7 pubmed publisher
    ..Mutations of the HEXB gene cause Sandhoff disease...
  53. Crisà A, Ferré F, Chillemi G, Moioli B. RNA-Sequencing for profiling goat milk transcriptome in colostrum and mature milk. BMC Vet Res. 2016;12:264 pubmed
    ..than in mature milk, with eight expressed at very high levels (SLCA3, GMSD, NME2, SLC2A1, B4GALT1, B3GNT2, NANS, HEXB)...
  54. Seyrantepe V, Demir S, Timur Z, von Gerichten J, Marsching C, Erdemli E, et al. Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease. Exp Neurol. 2018;299:26-41 pubmed publisher
  55. Kitakaze K, Mizutani Y, Sugiyama E, Tasaki C, Tsuji D, Maita N, et al. Protease-resistant modified human ?-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model. J Clin Invest. 2016;126:1691-703 pubmed publisher
    ..Here, we produced a modified human hexosaminidase subunit ? (HexB), which we have termed mod2B, composed of homodimeric ? subunits that contain amino acid sequences from the ? ..
  56. Stirling J, Leung A, Gravel R, Mahuran D. Localization of the pro-sequence within the total deduced primary structure of human beta-hexosaminidase B. FEBS Lett. 1988;231:47-50 pubmed
    ..This position corresponds to that predicted for the cleavage of a 17 amino acid signal peptide generated through the use of the third rather than the first in-frame ATG as the initiation site for protein synthesis. ..
  57. Maenhout T, Poll A, Wuyts B, Lecocq E, Van Vlierberghe H, De Buyzere M, et al. Microheterogeneity of serum ?-hexosaminidase in chronic alcohol abusers in a driver's license regranting program. Alcohol Clin Exp Res. 2013;37:1264-70 pubmed publisher
    ..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. ..
  58. Gilbert F, Kucherlapati R, Creagan R, Murnane M, Darlington G, Ruddle F. Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. Proc Natl Acad Sci U S A. 1975;72:263-7 pubmed
    ..There is thus a linkage between specific human autosomes and enzymes implicated in the production of lipid storage diseases. ..
  59. McInnes B, Potier M, Wakamatsu N, Melancon S, Klavins M, Tsuji S, et al. An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. J Clin Invest. 1992;90:306-14 pubmed
    ..Two mutations of the HEXB gene were identified in this patient, a partial 5' gene deletion (a null allele), and a C----T transition 8 ..
  60. Hou Y, McInnes B, Hinek A, Karpati G, Mahuran D. A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. J Biol Chem. 1998;273:21386-92 pubmed
    ..We have previously reported two sisters with chronic Sandhoff disease who were heterozygous for the common HEXB deletion allele...
  61. Drousiotou A, Stylianidou G, Anastasiadou V, Christopoulos G, Mavrikiou E, Georgiou T, et al. Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community. Hum Genet. 2000;107:12-7 pubmed
    ..We conclude that there is a high frequency of Sandhoff disease carriers in the Maronite community of Cyprus, approximately 1 in 7, and that a single mutation predominates in this population. ..
  62. Knas M, Choromańska M, Karaszewska K, Dudzik D, Waszkiel D, Borzym Kluczyk M, et al. Activity of lysosomal exoglycosidases in saliva of patients with HIV infection. Adv Med Sci. 2007;52:186-90 pubmed
    ..An increase of HEXA activity can implicate the beginning of neoplastic changes developing in the oral cavity. ..
  63. Kyrkanides S, Yang M, Tallents R, Miller J, Brouxhon S, Olschowka J. The trigeminal retrograde transfer pathway in the treatment of neurodegeneration. J Neuroimmunol. 2009;209:139-42 pubmed publisher
    ..The feline immunodeficiency viral vector, FIV(HEXB), encoding for the human HEXB gene, was injected intra-articularly in the temporomandibular joint of 12 week-old ..
  64. Tiribuzi R, Orlacchio A, Crispoltoni L, Maiotti M, Zampolini M, De Angeliz M, et al. Lysosomal ?-galactosidase and ?-hexosaminidase activities correlate with clinical stages of dementia associated with Alzheimer's disease and type 2 diabetes mellitus. J Alzheimers Dis. 2011;24:785-97 pubmed publisher
    ..Statistical analyses based on ROC curves showed that both ?-Galactosidase and ?-Hexosaminidase activities, either intracellular or plasma-secreted, may be used to discriminate AD patients from controls and AD-T2DM from T2DM patients. ..
  65. Jamali S, Eskandari N, Aryani O, Salehpour S, Zaman T, Kamalidehghan B, et al. Three novel mutations in Iranian patients with Tay-Sachs disease. Iran Biomed J. 2014;18:114-9 pubmed
    ..deletion TTAGGCAAGGGC in exon 10 as well as a few novel mutations, including C331G, which altered Gln>Glu in HEXB, A>G, T>C, and p.R510X in exon 14, which predicted a termination codon or nonsense mutation...
  66. Furihata K, Drousiotou A, Hara Y, Christopoulos G, Stylianidou G, Anastasiadou V, et al. Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease. Hum Mutat. 1999;13:38-43 pubmed
    Sandhoff disease is caused by abnormalities in HEXB gene encoding the beta-subunit of beta-hexosaminidase. In this study, we analyzed the HEXB gene of a Sandhoff carrier in the Greek-Cypriot community...
  67. Krzeslak A, Jóźwiak P, Lipinska A. Down-regulation of ?-N-acetyl-D-glucosaminidase increases Akt1 activity in thyroid anaplastic cancer cells. Oncol Rep. 2011;26:743-9 pubmed publisher
    ..Our findings suggest that increased proliferation of 8305C cells treated with PUGNAc or RNAi against O-GlcNAcase at least partially depends on the IGF?1-Akt1-GSK3?-cyclin D1 pathway. ..
  68. Tiribuzi R, D Angelo F, Berardi A, Martino S, Orlacchio A. Knock-down of HEXA and HEXB genes correlate with the absence of the immunostimulatory function of HSC-derived dendritic cells. Cell Biochem Funct. 2012;30:61-8 pubmed publisher
    In an attempt to investigate whether the genetic defect in the HEXA and HEXB genes (which causes the absence of the lysosomal ?-N-acetyl-hexosaminidase), are related to the wide inflammation in GM2 gangliosidoses (Tay-Sachs and Sandhoff ..
  69. Dlott B, d Azzo A, Quon D, Neufeld E. Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase. J Biol Chem. 1990;265:17921-7 pubmed
    ..Although the two new splice sites are used preferentially, the normal sites may be used to some extent, accounting for the residual A isoenzyme activity. ..
  70. Magini A, Mencarelli S, Tancini B, Ciccarone V, Urbanelli L, Hasilik A, et al. Identification and characterization of mature beta-hexosaminidases associated with human placenta lysosomal membrane. Biosci Rep. 2008;28:229-37 pubmed publisher
    ..We present a testable hypothesis that, at the cell surface, Hex changes the composition of glycoconjugates that are known to be involved in intercellular communication and signalling. ..
  71. Gort L, de Olano N, Macías Vidal J, Coll M. GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. Gene. 2012;506:25-30 pubmed
    ..The HEXA and HEXB genes encode the ?-subunit and the ?-subunit, respectively...
  72. Redonnet Vernhet I, Mahuran D, Salvayre R, Dubas F, Levade T. Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype. Biochim Biophys Acta. 1996;1317:127-33 pubmed
    The molecular defects in the HEXB gene encoding the common beta-subunit of lysosomal beta-hexosaminidase A (beta-Hex A, alpha beta) and beta-Hex B (beta beta) were investigated in a Portuguese family affected with late onset Sandhoff ..
  73. Zagor M, Minarowska A, Knaś M, Krajewska K, Niemcunowicz Janica A, Marciniak J, et al. N-acetyl-?-hexosaminidase in chronic tonsillitis and tonsillar hypertrophy. Otolaryngol Pol. 2013;67:204-8 pubmed publisher
    ..Based on content and specific HEX activity we suggest that tonsils with hypertrophy and chronic tonsillitis should be treated as identical unit irrespectively of age. ..
  74. Hooper A, Alamilla J, Venier R, Gillespie D, Igdoura S. Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice. Hum Mol Genet. 2017;26:661-673 pubmed publisher
    ..to determine the impact of NP1 on the pathophysiology of Sandhoff disease mouse models, we have generated an Np1-/-Hexb-/- double knockout mouse, and observed extended lifespan, improved righting reflex and enhanced body condition ..
  75. Mahuran D. The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis. Biochim Biophys Acta. 1991;1096:87-94 pubmed
  76. Casal J, Mera A, Perez L, Tutor J. Plasma and peripheral leukocyte beta-N-acetylhexosaminidase isoenzymes and disease activity in rheumatoid arthritis. Clin Biochem. 2002;35:483-8 pubmed
    ..Liver function appears to be the major determinant for the plasma Hex activity in these patients. ..
  77. Tomasiak M, Tomasiak M, Zietkowski Z, Skiepko R, Bodzenta Lukaszyk A. N-acetyl-beta-hexosaminidase activity in asthma. Int Arch Allergy Immunol. 2008;146:133-7 pubmed publisher
    ..Our study is the first report in which the elevated activity of beta-hex in subjects with asthma has been observed. However, more studies are needed to establish the precise role of this enzyme in asthma in humans. ..
  78. Fitterer B, Hall P, Antonishyn N, Desikan R, Gelb M, Lehotay D. Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis. Mol Genet Metab. 2014;111:382-389 pubmed publisher
    ..PCR-based screening was conducted for the c.115delG (p.(Val39fs)) variant in the HEXB gene that was previously found in 4 Sandhoff disease patients from this area...
  79. Kumar M, Kaur S, Nazir A, Tripathi R. HIV-1 Nef binds with human GCC185 protein and regulates mannose 6 phosphate receptor recycling. Biochem Biophys Res Commun. 2016;474:137-145 pubmed publisher
  80. Banerjee P, Siciliano L, Oliveri D, McCabe N, Boyers M, Horwitz A, et al. Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease. Biochem Biophys Res Commun. 1991;181:108-15 pubmed
  81. Pennybacker M, Liessem B, Moczall H, Tifft C, Sandhoff K, Proia R. Identification of domains in human beta-hexosaminidase that determine substrate specificity. J Biol Chem. 1996;271:17377-82 pubmed
    ..This result indicates that the beta-subunit amino acids 225-556 contribute an essential function in the GM2-hydrolyzing activity of beta-hexosaminidase A. ..
  82. Wielgat P, Walczuk U, Szajda S, Bien M, Zimnoch L, Mariak Z, et al. Activity of lysosomal exoglycosidases in human gliomas. J Neurooncol. 2006;80:243-9 pubmed
    ..Our results suggest that lysosomal exoglycosidases may participate in the progression and dynamical development of glial tumors. ..
  83. Fitterer B, Antonishyn N, Hall P, Lehotay D. A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation. Genet Test Mol Biomarkers. 2012;16:401-5 pubmed publisher
    ..DNA sequencing was used to search for mutations in the HEXB gene from the most recently affected patient...
  84. Tsuji D. [Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis]. Yakugaku Zasshi. 2013;133:269-74 pubmed
    ..GM2 gangliosidoses) are autosomal recessive lysosomal storage diseases caused by gene mutations in HEXA and HEXB, each encoding human lysosomal ?-hexosaminidase ?-subunits and ?-subunits, respectively...
  85. Maier T, Strater N, Schuette C, Klingenstein R, Sandhoff K, Saenger W. The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease. J Mol Biol. 2003;328:669-81 pubmed
    ..lysosomal beta-hexosaminidases are dimeric enzymes composed of alpha and beta-chains, encoded by the genes HEXA and HEXB. They occur in three isoforms, the homodimeric hexosaminidases B (betabeta) and S (alphaalpha), and the ..
  86. Santoro M, Modoni A, Sabatelli M, Madia F, Piemonte F, Tozzi G, et al. Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect. Mol Genet Metab. 2007;91:111-4 pubmed
    We identified a novel c.1556A>G transition in exon 12 of the HEXB gene associated with chronic Sandhoff's disease, changing a conserved aspartic acid to glycine at position 494 of the Hex beta-subunit; moreover, RT-PCR showed aberrant ..
  87. Wakamatsu N, Kobayashi H, Miyatake T, Tsuji S. A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection. J Biol Chem. 1992;267:2406-13 pubmed
    ..Nucleotide sequence analysis of the HEXB gene coding for the beta subunit revealed two single base substitutions, one in exon 2 (A to G, a known ..
  88. Bikker H, Van den Berg F, Wolterman R, de Vijlder J, Bolhuis P. Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis. Hum Genet. 1989;81:287-8 pubmed
    ..used to demonstrate a 50-kb deletion in one allele of the gene encoding the beta subunit of human hexosaminidase (HEXB at 5q13) of two apparently unrelated patients with Sandhoff disease...
  89. Jakoi E, Kempe K, Gaston S. Ligatin binds phosphohexose residues on acidic hydrolases. J Supramol Struct Cell Biochem. 1981;16:139-53 pubmed
    ..These results suggested the presence of a phosphodiester on beta-NAG analogous to the NAC glucosamine 1 P6 mannose present on beta-glucuronidase isolated from mouse lymphoma cells (Tabas I, Kornfield, S: J Biol Chem 255: 6633, 1980). ..
  90. Arfi A, Bourgoin C, Basso L, Emiliani C, Tancini B, Chigorno V, et al. Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts. Neurobiol Dis. 2005;20:583-93 pubmed
    ..Mono and bicistronic lentiviral vectors containing the HEXA or/and HEXB cDNAs were constructed and tested on human Sandhoff fibroblasts. The bicistronic SIV...
  91. Zampieri S, Cattarossi S, Oller Ramirez A, Rosano C, Lourenço C, Passon N, et al. Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. PLoS ONE. 2012;7:e41516 pubmed publisher
    Sandhoff disease (SD) is a lysosomal disorder caused by mutations in the HEXB gene. To date, 43 mutations of HEXB have been described, including 3 large deletions...