MeSH Review:
Tay-Sachs Disease
Vallance,
Morris,
Coulter-Mackie,
Lim-Steele,
Kaback,
Frisch,
Colombo,
Michaelovsky,
Karpati,
Goldman,
Peleg,
Platt,
Neises,
Reinkensmeier,
Townsend,
Perry,
Proia,
Winchester,
Dwek,
Butters,
- 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)
- 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)
- Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis. Frisch, A., Colombo, R., Michaelovsky, E., Karpati, M., Goldman, B., Peleg, L. Hum. Genet. (2004)
- Strategies to respond to polymerase chain reaction deoxyribonucleic acid amplification failure in a preimplantation genetic diagnosis program. Gibbons, W.E., Gitlin, S.A., Lanzendorf, S.E. Am. J. Obstet. Gynecol. (1995)
- Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews. Fernandes, M.J., Kaplan, F., Clow, C.L., Hechtman, P., Scriver, C.R. Genet. Epidemiol. (1992)
- Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests. Triggs-Raine, B.L., Feigenbaum, A.S., Natowicz, M., Skomorowski, M.A., Schuster, S.M., Clarke, J.T., Mahuran, D.J., Kolodny, E.H., Gravel, R.A. N. Engl. J. Med. (1990)
- Identification of an altered splice site in Ashkenazi Tay-Sachs disease. Arpaia, E., Dumbrille-Ross, A., Maler, T., Neote, K., Tropak, M., Troxel, C., Stirling, J.L., Pitts, J.S., Bapat, B., Lamhonwah, A.M. Nature (1988)
- Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Platt, F.M., Neises, G.R., Reinkensmeier, G., Townsend, M.J., Perry, V.H., Proia, R.L., Winchester, B., Dwek, R.A., Butters, T.D. Science (1997)
- Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Yamanaka, S., Johnson, M.D., Grinberg, A., Westphal, H., Crawley, J.N., Taniike, M., Suzuki, K., Proia, R.L. Proc. Natl. Acad. Sci. U.S.A. (1994)
- Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase. Navon, R., Proia, R.L. Am. J. Hum. Genet. (1991)
- More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians. Hechtman, P., Kaplan, F., Bayleran, J., Boulay, B., Andermann, E., de Braekeleer, M., Melançon, S., Lambert, M., Potier, M., Gagné, R. Am. J. Hum. Genet. (1990)
- Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease. Brown, C.A., Mahuran, D.J. J. Biol. Chem. (1991)
- A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family. Trop, I., Kaplan, F., Brown, C., Mahuran, D., Hechtman, P. Hum. Mutat. (1992)
- The search for the genetic lesion in Ashkenazi Jews with Classic Tay-Sachs disease. Myerowitz, R. Adv. Genet. (2001)
- Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles. Landels, E.C., Green, P.M., Ellis, I.H., Fensom, A.H., Bobrow, M. J. Med. Genet. (1992)
- A novel mechanism for desulfation of mucin: identification and cloning of a mucin-desulfating glycosidase (sulfoglycosidase) from Prevotella strain RS2. Rho, J.H., Wright, D.P., Christie, D.L., Clinch, K., Furneaux, R.H., Roberton, A.M. J. Bacteriol. (2005)
- Preimplantation genetic diagnosis for Tay-Sachs disease: successful pregnancy after pre-embryo biopsy and gene amplification by polymerase chain reaction. Gibbons, W.E., Gitlin, S.A., Lanzendorf, S.E., Kaufmann, R.A., Slotnick, R.N., Hodgen, G.D. Fertil. Steril. (1995)
- First trimester prenatal diagnosis of Tay-Sachs disease using the sulfated synthetic substrate for hexosaminidase A. Callahan, J.W., Archibald, A., Skomorowski, M.A., Shuman, C., Clarke, J.T. Clin. Biochem. (1990)
- Hexosaminidase A analysis of various biological fluids by pH inactivation for the identification of Tay-Sachs disease genotypes. Saifer, A., Perle, G. Prog. Clin. Biol. Res. (1977)
- Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate. Ben-Yoseph, Y., Reid, J.E., Shapiro, B., Nadler, H.L. Am. J. Hum. Genet. (1985)
- Tay-Sachs disease: ultrastructural studies on cultured fibroblasts. Wyatt, P.R., Cox, D.M., Hoogstraten, J. Pediatr. Res. (1978)
- Molecular forms of beta-N-acetylhexosaminidase in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and patients with Tay-Sachs disease. Salvayre, R., Maret, A., Negre, A., Lenoir, G., Vuillaume, M., Icart, J., Didier, J., Douste-Blazy, L. Eur. J. Biochem. (1983)
- Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system. Miklyaeva, E.I., Dong, W., Bureau, A., Fattahie, R., Xu, Y., Su, M., Fick, G.H., Huang, J.Q., Igdoura, S., Hanai, N., Gravel, R.A. Brain Res. (2004)
- Enzyme replacement treatment for Tay-Sachs disease brain cells in culture utilizing concanavalin A-mediated hexosaminidase A uptake: biochemical and morphological evidence of GM2 mobilization. Brooks, S.E., Hoffman, L.M., Adachi, M., Amsterdam, D., Schneck, L. Acta Neuropathol. (1980)
- Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. Vallance, H., Morris, T.J., Coulter-Mackie, M., Lim-Steele, J., Kaback, M. Mol. Genet. Metab. (2006)
- II. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiency. Adamali, H.I., Somani, I.H., Huang, J.Q., Gravel, R.A., Trasler, J.M., Hermo, L. J. Androl. (1999)
- Screening semen donors for hereditary diseases. The Fairfax cryobank experience. Bick, D., Fugger, E.F., Pool, S.H., Hazelrigg, W.B., Yadvish, K.N., Spence, W.C., Maddalena, A., Howard-Peebles, P.N., Schulman, J.D. The Journal of reproductive medicine. (1998)
- Sialidase-mediated depletion of GM2 ganglioside in Tay-Sachs neuroglia cells. Igdoura, S.A., Mertineit, C., Trasler, J.M., Gravel, R.A. Hum. Mol. Genet. (1999)
- Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain. van Bael, M., Natowicz, M.R., Tomczak, J., Grebner, E.E., Prence, E.M. J. Med. Genet. (1996)
- Beta-N-acetylhexosaminidase activity in human oocytes and preimplantation embryos. Sermon, K., Lissens, W., Tarlatzis, B., Braude, P.R., Devroey, P., Van Steirteghem, A., Liebaers, I. Hum. Reprod. (1992)
- Prenatal diagnosis of Tay-Sachs disease: studies on the reliability of hexosaminidase levels in amniotic fluid. Grebner, E.E., Jackson, L.G. Am. J. Obstet. Gynecol. (1979)
- Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry as a rapid screening method to detect mutations causing Tay-Sachs disease. Srinivasan, J.R., Liu, Y.H., Venta, P.J., Siemieniak, D., Killeen, A.A., Zhu, Y., Lubman, D.M. Rapid Commun. Mass Spectrom. (1997)