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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Sandhoff Disease

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Disease relevance of Sandhoff Disease


High impact information on Sandhoff Disease


Chemical compound and disease context of Sandhoff Disease


Biological context of Sandhoff Disease


Anatomical context of Sandhoff Disease


Gene context of Sandhoff Disease

  • Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively [20].
  • Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease [21].
  • Beta-N-Acetylhexosaminidase is a lysosomal enzyme; mutation in this protein leads to Tay-Sachs or Sandhoff disease [22].
  • We isolated primary microglial cells from the neonatal brains of Sandhoff disease model mice (SD mice) produced by disruption of the murine Hex beta-subunit gene allele (Hexb-/-) [23].
  • Both GA2 and GM2 were reduced by almost 10% and 50%, respectively, on day 3, and by 60% and 70% on day 7 compared with untreated age-matched Sandhoff disease mice [24].


  1. A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition. Noensie, E.N., Dietz, H.C. Nat. Biotechnol. (2001) [Pubmed]
  2. Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients. Nalini, A., Christopher, R. J. Child Neurol. (2004) [Pubmed]
  3. Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians. Barbeau, A., Plasse, L., Cloutier, T., Paris, S., Roy, M. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. (1984) [Pubmed]
  4. Activity and multiple forms of alpha-L-fucosidase and hexosaminidase in chorion biopsy specimens and some fetal organs. Beyer, E.M., Wiederschain GYa, n.u.l.l. Prenat. Diagn. (1984) [Pubmed]
  5. Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses. Yamaguchi, A., Katsuyama, K., Nagahama, K., Takai, T., Aoki, I., Yamanaka, S. J. Clin. Invest. (2004) [Pubmed]
  6. 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) [Pubmed]
  7. Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice. Wu, Y.P., Proia, R.L. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  8. Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. Jeyakumar, M., Butters, T.D., Cortina-Borja, M., Hunnam, V., Proia, R.L., Perry, V.H., Dwek, R.A., Platt, F.M. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  9. Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases. Huang, J.Q., Trasler, J.M., Igdoura, S., Michaud, J., Hanal, N., Gravel, R.A. Hum. Mol. Genet. (1997) [Pubmed]
  10. NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin. Jeyakumar, M., Smith, D.A., Williams, I.M., Borja, M.C., Neville, D.C., Butters, T.D., Dwek, R.A., Platt, F.M. Ann. Neurol. (2004) [Pubmed]
  11. Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease. Andersson, U., Smith, D., Jeyakumar, M., Butters, T.D., Borja, M.C., Dwek, R.A., Platt, F.M. Neurobiol. Dis. (2004) [Pubmed]
  12. Preparation of radiolabeled GM2 and GA2 gangliosides. Novak, A., Lowden, J.A., Gravel, Y.L., Wolfe, L.S. J. Lipid Res. (1979) [Pubmed]
  13. Structure of seven oligosaccharides excreted in the urine of a patient with Sandhoff's disease (GM2 gangliosidosis-variant O). Strecker, G., Herlant-Peers, M.C., Fournet, B., Montreul, J. Eur. J. Biochem. (1977) [Pubmed]
  14. Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta. Arfi, A., Zisling, R., Richard, E., Batista, L., Poenaru, L., Futerman, A.H., Caillaud, C. J. Neurochem. (2006) [Pubmed]
  15. Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype. Yoshizawa, T., Kohno, Y., Nissato, S., Shoji, S. J. Neurol. Sci. (2002) [Pubmed]
  16. Pre-embryonic diagnosis for Sandhoff disease. Kuliev, A., Rechitsky, S., Laziuk, K., Verlinsky, O., Tur-Kaspa, I., Verlinsky, Y. Reprod. Biomed. Online (2006) [Pubmed]
  17. Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease). Modigliani, R., Lemann, M., Melançon, S.B., Mikol, J., Potier, M., Salmeron, M., Said, G., Poitras, P. Gastroenterology (1994) [Pubmed]
  18. Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. Jeyakumar, M., Norflus, F., Tifft, C.J., Cortina-Borja, M., Butters, T.D., Proia, R.L., Perry, V.H., Dwek, R.A., Platt, F.M. Blood (2001) [Pubmed]
  19. Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin. Pelled, D., Lloyd-Evans, E., Riebeling, C., Jeyakumar, M., Platt, F.M., Futerman, A.H. J. Biol. Chem. (2003) [Pubmed]
  20. 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) [Pubmed]
  21. Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease. McInnes, B., Brown, C.A., Mahuran, D.J. Biochim. Biophys. Acta (1992) [Pubmed]
  22. Beta-N-acetylhexosaminidase activity in mouse oocytes and preimplantation embryos. Sermon, K., Nijs, M., Lissens, W., Van Steirteghem, A.C., Liebaers, I. Hum. Reprod. (1991) [Pubmed]
  23. Metabolic correction in microglia derived from Sandhoff disease model mice. Tsuji, D., Kuroki, A., Ishibashi, Y., Itakura, T., Itoh, K. J. Neurochem. (2005) [Pubmed]
  24. Plasmid-based gene transfer ameliorates visceral storage in a mouse model of Sandhoff disease. Yamaguchi, A., Katsuyama, K., Suzuki, K., Kosaka, K., Aoki, I., Yamanaka, S. J. Mol. Med. (2003) [Pubmed]
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