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References

  • Andermann, F., Keene, D.L., Andermann, E., Qeesney, L., Qeesney, F. & 1980 Startle disease or hyperekplexia; further delineation of the syndrome. Brain, 103, 985 997.
  • Becker, C.-M., Hermans-Borgmeyer, I., Schmitt, B., Betz, H. 1986 The glycine receptor deficiency of the mutant mouse spastic: evidence for normal glycine receptor structure and localization. J. Neurosci., 5, 1358 1364.
  • Becker, C.-M., Hoch, W., Betz, H. 1988 Glycine receptor heterogeneity in rat spinal cord during postnatal development. EMBO J., 7, 3717 3726.
  • Becker, C.-M., Schmieden, V., Tarroni, P., Strasser, U., Betz, H. 1992 Isoform-selective deficit of glycine receptors in the mouse mutant. Spastic. Neuron , 8, 283 289.
  • Becker, C.-M., Betz, H., Schröder, H. 1993 Expression of inhibitory glycine receptors in postnatal rat cerebral cortex. Brain Res., 26, 220 226.
  • Betz, H. 1992 Structure and function of inhibitory glycine receptors. Q. Rev. Biophys., 25, 283 289.
  • Buckwalter, M.S., Cook, S.A., Davisson, M.T., White, W.F., Camper, S.A. 1994 A frameshift mutation in the mouse α1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death. Hum. Mol. Genet., 3, 2025 2030.
  • Dooley, J.M. & Andermann, F. 1989 Startle disease or hyperekplexia: adolescent onset and response to valproate. Pediatr. Neurol., 2, 126 127.
  • Forss-Petter, S., Danielson, P.E., Catsicas, S., Battenberg, E., Price, J., Nerenberg, M., Sutcliffe, J.G. 1990 Transgenic mice expressing β-galactosidase in mature neurons under neuron-specific enolase promotor control. Neuron, 5, 187 197.
  • Gorman, C.M., Moffat, L.F., Horward, B.H. 1982 Recombinant genomes which express chloramphenicol acetyltransferase in mammalian cells. Mol. Cell. Biol., 2, 1044 1051.
  • Grenningloh, G., Schmieden, V., Schofield, P.R., Seeburg, P.H., Siddique, T., Mohandas, T.K., Becker, C.-M., Betz, H. 1990a Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. EMBO J., 9, 771 776.
  • Grenningloh, G., Pribilla, I., Prior, P., Multhaup, G., Beyreuther, K., Taleb, O., Betz, H. 1990b Cloning and expression of the 58 kd β subunit of the inhibitory glycine receptor. Neuron, 4, 963 970.
  • Hartenstein, B. 1996 Entwicklung und Analyse von Mausmodellen zur Untersuchung von Glyzinrezeptordefekten in vivo. PhD Thesis, Johann Wolfgang Goethe-Universität, Frankfurt am Main.
  • Hartenstein, B., Schenkel, J., Kuhse, J., Besenbeck, B., Kling, C., Becker, C.-M., Betz, H., Weiher, H. 1996 Low level expression of glycine receptor β subunit transgene is sufficient for phenotype correction in spastic mice. EMBO J., 15, 1275 1282.
  • Hoch, W., Betz, H., Becker, C.-M. 1989 Primary cultures of mouse spinal cord express the neonatal isoform of the inhibitory glycine receptor. Neuron, 3, 339 348.
  • Hogan, B., Costantini, F., Lacy, E. 1986 Manipulating the Mouse Embryo. A Laboratory Manual. Cold Spring Laboratory, Cold Spring Harbor, NY, USA.
  • Kelly, M.A., Rubinstein, M., Phillips, T.J., Lessov, C.N., Burkhart-Kasch, S., Zhang, G., Bunzow, J.R., Fang, Y., Gerhardt, G.A., Grandy, D.K., Low, M.J. 1998 Locomotor activity in D2 dopamine receptor-deficient mice is determined by gene dosage, genetic background, and developmental adaptations. J. Neurosci., 18, 3470 3479.
  • Kingsmore, S.F., Giros, B., Suh, D., Bieniarz, M., Caron, M.G., Seldin, M.F. 1994 Glycine receptor β-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nature Genet., 7, 136 141.
  • Kirsch, J., Kuhse, J., Betz, H. 1995 Targeting of glycine receptor subunits to gephyrin-rich domains in transfected human embryonic kidney cells. Mol. Cell. Neurosci., 6, 450 461.
  • Kuhse, J., Schmieden, V., Betz, H. 1990 Identification and functional expression of a novel ligand binding subunit of the inhibitory glycine receptor. J. Biol. Chem., 265, 22 317 22 320.
  • Kuhse, J., Laube, B., Magalei, D., Betz, H. 1993 Assembly of the inhibitory glycine receptor: identification of amino acid sequence motifs governing subunit stoichiometry. Neuron, 11, 1049 1056.
  • Kurczynski, T.W. 1983 Hyperekplexia. Arch. Neurol., 40, 246 248.
  • Langosch, D., Thomas, L., Betz, H. 1988 Conserved quaternary structure of ligand gated ion channels: the postsynaptic glycine receptor is a pentamer. Proc. Natl Acad. Sci. USA , 85, 7394 7398.
  • Langosch, D., Laube, B., Rundström, N., Schmieden, V., Bormann, J., Betz, H. 1994 Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia. EMBO J., 13, 4223 4228.
  • Lingam, S., Wilson, J., Hart, E.W. 1981 Hereditary stiff-baby syndrome. Am. J. Dis. Child., 135, 909 911.
  • Logue, S.F., Owen, E.H., Rasmussen, D.L., Wehner, J.M. 1997 Assessment of locomotor activity, acoustic and tactile startle in inbred mouse strains and F1 hybrids: implications of genetic background for single gene and quantitative trait loci analyses. Neuroscience, 80, 1075 1086.
  • Malosio, M.-L., Marqèze-Pouey, B., Kuhse, J., Betz, H. 1991 Widespread expression of glycine receptor subunit mRNAs in the adult and developing rat brain. EMBO J., 10, 2401 2409.
  • Matzenbach, B., Maulet, I., Sefton, L., Courtier, B., Avner, P., Guenet, J.L., Betz, H. 1994 Structural analysis of mouse glycine receptor a subunit genes. J. Biol. Chem., 269, 2607 2612.
  • Melendrez, C.S. & Meizel, S. 1995 Studies of porcine and human sperm suggesting a role for a sperm glycine receptor/Cl channel in the zona pelluzida-initiated acrosome reaction. Biol. Reprod., 53, 676 683.
  • Melendrez, C.S. & Meizel, S. 1996 Immunochemical identification of the glycine receptor/Cl-channel in porcine sperm. Biochem. Biophys. Res. Commun., 223, 675 678.
  • Meyer, G., Kirsch, J., Betz, H., Langosch, D. 1995 Identification of a gephyrin binding motif on the glycine receptor β subunit. Neuron, 15, 563 572.
  • Mülhardt, C., Fischer, M., Gass, P., Simon-Chazottes, D., Guenet, J.-L., Kuhse, J., Betz, H., Becker, C.-M. 1994 The spastic mouse: aberrant splicing of glycine receptor β subunit mRNA caused by intronic insertion of L1 element. Neuron, 13, 1003 1015.
  • Pfeiffer, F. & Betz, H. 1981 Solubilization of the glycine receptor from rat spinal cord. Brain Res., 226, 273 279.
  • Pfeiffer, F., Simler, R., Grenningloh, G., Betz, H. 1984 Monoclonal antibodies and peptide mapping reveal structural similarities between the subunits of the glycine receptor of rat spinal cord. Proc. Natl Acad. Sci. USA , 81, 7224 7227.
  • Rajendra, S., Lynch, J.W., Pierce, K.D., French, C.R., Barry, H.B., Schofield, P.R. 1994 Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor. J. Biol. Chem., 269, 18 739 18 742.
  • Rees, M.I., Andrew, M., Jawad, S., Owen, M.J. 1994 Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α1 subunit of the inhibitory glycine receptor. Hum. Mol. Genet., 3, 2175 2179.
  • Ryan, S.G., Sherman, S.L., Terry, J.C., Sparkes, R.S., Torres, M.C., Mackey, R.W. 1992 Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann. Neurol., 31, 663 668.
  • Ryan, S.G., Buckwalter, M.S., Lynch, J.W., Handford, C.A., Segura, L., Shiang, R., Wasmuth, J.J., Camper, S.A., Schofield, P., O’Connell, P. 1994 A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse. Nature Genet., 7, 131 135.
  • Saul, B., Schmieden, V., Kling, C., Mülhardt, C., Gass, P., Kuhse, J., Becker, C.-M. 1994 Point mutation of glycine receptor α1 subunit in the spasmodic mouse affects agonist response. FEBS Lett., 350, 71 76.
  • Schmieden, V., Kuhse, J., Betz, H. 1992 Agonist pharmacology of neonatal and adult glycine receptor alpha subunits: identification of amino acid residues involved in taurine activation. EMBO J., 11, 2025 2032.
  • Shiang, R., Ryan, S.G., Zhu, Y.-Z., Hahn, A.F., O’Connell, P., Wasmuth, J.J. 1993 Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurological disorder, hyperekplexia. Nature Genet., 5, 351 358.
  • Suhren, O., Bruyn, G.W., Tuynman, J.A. 1966 Hyperekplexia: a hereditary startle syndrome. J. Neurol. Sci., 3, 577 605.
  • White, W.F. & Heller, A.H. 1982 Glycine receptor alteration in the mutant mouse. Spastic. Nature , 298, 655 657.