Gene Review:
HEXB - hexosaminidase B (beta polypeptide)
Homo sapiens
Synonyms:
Beta-N-acetylhexosaminidase subunit beta, Beta-hexosaminidase subunit beta, Cervical cancer proto-oncogene 7 protein, ENC-1AS, HCC-7, ...
Mahuran,
Furihata,
Drousiotou,
Hara,
Christopoulos,
Stylianidou,
Anastasiadou,
Ueno,
Ioannou,
Martin,
Krum,
Varadarajan,
Hathcock,
Smith,
Baker,
- The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease. Maier, T., Strater, N., Schuette, C.G., Klingenstein, R., Sandhoff, K., Saenger, W. J. Mol. Biol. (2003)
- Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb. Yamanaka, S., Johnson, O.N., Norflus, F., Boles, D.J., Proia, R.L. Genomics (1994)
- Promoters for the human beta-hexosaminidase genes, HEXA and HEXB. Norflus, F., Yamanaka, S., Proia, R.L. DNA Cell Biol. (1996)
- An inversion of 25 base pairs causes feline GM2 gangliosidosis variant. Martin, D.R., Krum, B.K., Varadarajan, G.S., Hathcock, T.L., Smith, B.F., Baker, H.J. Exp. Neurol. (2004)
- Beta-N-acetylhexosaminidase in peripheral blood lymphocytes and monocytes in the different forms and stages of multiple sclerosis. Orlacchio, A., Martino, S., Sarchielli, P., Gallai, V., Emiliani, C. J. Neurochem. (1998)
- Elevation of the renal enzyme N-acetyl-beta-glucosaminidase in affectively disordered patients. Garvey, M.J., Furlong, C., Schaffer, C.B., Adelman, R. Acta psychiatrica Scandinavica. (1988)
- Increases and time-course variations in beta-hexosaminidase isoenzyme B and carbohydrate-deficient transferrin in serum from alcoholics are similar. Hultberg, B., Isaksson, A., Berglund, M., Alling, C. Alcohol. Clin. Exp. Res. (1995)
- Association of levels of N-acetyl-beta-glucosaminidase with severity of psychiatric symptoms in panic disorder. Garvey, M.J., Noyes, R. Psychiatry research. (1996)
- Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis. Sango, K., McDonald, M.P., Crawley, J.N., Mack, M.L., Tifft, C.J., Skop, E., Starr, C.M., Hoffmann, A., Sandhoff, K., Suzuki, K., Proia, R.L. Nat. Genet. (1996)
- Increased excretion of urinary N-acetyl-beta-glucosaminidase in essential hypertension and its decline with antihypertensive therapy. Alderman, M.H., Melcher, L., Drayer, D.E., Reidenberg, M.M. N. Engl. J. Med. (1983)
- An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. McInnes, B., Potier, M., Wakamatsu, N., Melancon, S.B., Klavins, M.H., Tsuji, S., Mahuran, D.J. J. Clin. Invest. (1992)
- 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. Redonnet-Vernhet, I., Mahuran, D.J., Salvayre, R., Dubas, F., Levade, T. Biochim. Biophys. Acta (1996)
- Specific expression of unusual GM2 ganglioside with Hanganutziu-Deicher antigen activity on human colon cancers. Hirabayashi, Y., Kasakura, H., Matsumoto, M., Higashi, H., Kato, S., Kasai, N., Naiki, M. Jpn. J. Cancer Res. (1987)
- Comparison of urinary albumin, retinol-binding protein and N-acetyl beta-glucosaminidase as predictors of progression of low level albuminuria in diabetes. O'Brien, S.F., Powrie, J.K., Watts, G.F. Ann. Clin. Biochem. (1997)
- Effects of polymyxin B immobilized fiber on urinary N-acetyl-beta-glucosaminidase in patients with severe sepsis. Nakamura, T., Kawagoe, Y., Matsuda, T., Ueda, Y., Koide, H. ASAIO journal (American Society for Artificial Internal Organs : 1992) (2004)
- Renal toxicity of contrast agents: iopamidol, iothalamate, and diatrizoate. Gale, M.E., Robbins, A.H., Hamburger, R.J., Widrich, W.C. AJR. American journal of roentgenology. (1984)
- 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. Korneluk, R.G., Mahuran, D.J., Neote, K., Klavins, M.H., O'Dowd, B.F., Tropak, M., Willard, H.F., Anderson, M.J., Lowden, J.A., Gravel, R.A. J. Biol. Chem. (1986)
- Biochemical consequences of mutations causing the GM2 gangliosidoses. Mahuran, D.J. Biochim. Biophys. Acta (1999)
- Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. Neote, K., McInnes, B., Mahuran, D.J., Gravel, R.A. J. Clin. Invest. (1990)
- Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase. O'Dowd, B.F., Quan, F., Willard, H.F., Lamhonwah, A.M., Korneluk, R.G., Lowden, J.A., Gravel, R.A., Mahuran, D.J. Proc. Natl. Acad. Sci. U.S.A. (1985)
- Inefficiency in GM2 ganglioside elimination by human lysosomal beta-hexosaminidase beta-subunit gene transfer to fibroblastic cell line derived from Sandhoff disease model mice. Itakura, T., Kuroki, A., Ishibashi, Y., Tsuji, D., Kawashita, E., Higashine, Y., Sakuraba, H., Yamanaka, S., Itoh, K. Biol. Pharm. Bull. (2006)
- Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease. Furihata, K., Drousiotou, A., Hara, Y., Christopoulos, G., Stylianidou, G., Anastasiadou, V., Ueno, I., Ioannou, P. Hum. Mutat. (1999)
- A frequent TG deletion near the polyadenylation signal of the human HEXB gene: occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3' untranslated region. Kleiman, F.E., Ramírez, A.O., Dodelson de Kremer, R., Gravel, R.A., Argaraña, C.E. Hum. Mutat. (1998)
- Interrelationship of hexosaminidases A and B: conformation of the common and the unique subunit theory. Srivastava, S.K., Wiktorowicz, J.E., Awasthi, Y.C. Proc. Natl. Acad. Sci. U.S.A. (1976)
- In vivo chloroquine-induced inhibition of insulin degradation in a diabetic patient with severe insulin resistance. Blazar, B.R., Whitley, C.B., Kitabchi, A.E., Tsai, M.Y., Santiago, J., White, N., Stentz, F.B., Brown, D.M. Diabetes (1984)
- Chemical characterization and subunit structure of human N-acetylhexosaminidases A and B. Geiger, B., Arnon, R. Biochemistry (1976)
- Characterization of an activating factor required for hydrolysis of Gm2 ganglioside catalyzed by hexosaminidase A. Hechtman, P. Can. J. Biochem. (1977)
- A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition. Noensie, E.N., Dietz, H.C. Nat. Biotechnol. (2001)
- The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci. Cordeiro, P., Hechtman, P., Kaplan, F. Genet. Med. (2000)
- Inhibition of bone resorption by selective inactivators of cysteine proteinases. Hill, P.A., Buttle, D.J., Jones, S.J., Boyde, A., Murata, M., Reynolds, J.J., Meikle, M.C. J. Cell. Biochem. (1994)
- Biochemical and immunochemical characterization of hexosaminidase P. Geiger, B., Calef, E., Arnon, R. Biochemistry (1978)
- The regulation of glutathione peroxidase gene expression by oxygen tension in cultured human cardiomyocytes. Cowan, D.B., Weisel, R.D., Williams, W.G., Mickle, D.A. J. Mol. Cell. Cardiol. (1992)
- Inheritance of the enzyme defect in a new hexosaminidase deficiency disease. Johnson, W.G., Chutorian, A.B. Ann. Neurol. (1978)
- Hexosaminidase A in amniotic fluid of Tay-Sachs fetuses. Geiger, B., Navon, R., Arnon, R. Clin. Chem. (1978)
- Complete analysis of the glycosylation and disulfide bond pattern of human beta-hexosaminidase B by MALDI-MS. Schuette, C.G., Weisgerber, J., Sandhoff, K. Glycobiology (2001)