메뉴 건너뛰기




Volumn 78, Issue 2, 1997, Pages 411-417

The frameshift mutation oscillator (Glra1(spd-ot)) produces a complete loss of glycine receptor α1-polypeptide in mouse central nervous system

Author keywords

acoustic startle response; chromosome 11; glycine receptor; hyperekplexia; mouse mutant; null mutation

Indexed keywords

GLYCINE RECEPTOR; RADIOLIGAND; RECEPTOR SUBTYPE;

EID: 0031562364     PISSN: 03064522     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0306-4522(96)00567-2     Document Type: Article
Times cited : (70)

References (31)
  • 1
    • 84970378029 scopus 로고
    • Glycine receptors: Molecular heterogeneity and implications for disease
    • 1. Becker C.-M. (1995) Glycine receptors: molecular heterogeneity and implications for disease. Neuroscientist 1, 130-141.
    • (1995) Neuroscientist , vol.1 , pp. 130-141
    • Becker, C.-M.1
  • 2
    • 0022531593 scopus 로고
    • The glycine receptor deficiency of the mutant mouse spastic: Evidence for normal glycine receptor structure and localization
    • 2. Becker C.-M., Hermans-Borgmeyer I., Schmitt B. and Betz H. (1986) The glycine receptor deficiency of the mutant mouse spastic: evidence for normal glycine receptor structure and localization. J. Neurosci. 6, 1358-1364.
    • (1986) J. Neurosci. , vol.6 , pp. 1358-1364
    • Becker, C.-M.1    Hermans-Borgmeyer, I.2    Schmitt, B.3    Betz, H.4
  • 3
    • 0024225307 scopus 로고
    • Glycine receptor heterogeneity in rat spinal cord during postnatal development
    • 3. Becker C.-M., Hoch W. and Betz H. (1988) Glycine receptor heterogeneity in rat spinal cord during postnatal development. Eur. molec. Biol. Org. J. 7, 3717-3726.
    • (1988) Eur. Molec. Biol. Org. J. , vol.7 , pp. 3717-3726
    • Becker, C.-M.1    Hoch, W.2    Betz, H.3
  • 4
    • 0024394703 scopus 로고
    • Sensitive immunoassay shows selective association of peripheral and integral membrane proteins of the inhibitory glycine receptors complex
    • 4. Becker C.-M., Hoch W. and Betz H. (1989) Sensitive immunoassay shows selective association of peripheral and integral membrane proteins of the inhibitory glycine receptors complex. J. Neurochem. 53, 124-131.
    • (1989) J. Neurochem. , vol.53 , pp. 124-131
    • Becker, C.-M.1    Hoch, W.2    Betz, H.3
  • 5
    • 0026522823 scopus 로고
    • Isoform-selective deficit of glycine receptors in the mouse mutant spastic
    • 5. Becker C.-M., Schmieden V., Tarroni P., Strasser U. and Betz H. (1992) Isoform-selective deficit of glycine receptors in the mouse mutant spastic. Neuron 8, 283-289.
    • (1992) Neuron , vol.8 , pp. 283-289
    • Becker, C.-M.1    Schmieden, V.2    Tarroni, P.3    Strasser, U.4    Betz, H.5
  • 6
    • 0027097784 scopus 로고
    • Structure and function of inhibitory glycine receptors
    • 6. Betz H. (1992) Structure and function of inhibitory glycine receptors. Q. Rev. Biophys. 25, 381-394.
    • (1992) Q. Rev. Biophys. , vol.25 , pp. 381-394
    • Betz, H.1
  • 8
    • 0028029561 scopus 로고
    • A frameshift mutation in the mouse α1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death
    • 8. Buckwalter M. S., Cook S. A., Davisson M. T., White W. F. and Camper S. (1994) A frameshift mutation in the mouse α1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death. Hum. molec. Genet. 3, 2025-2030.
    • (1994) Hum. Molec. Genet. , vol.3 , pp. 2025-2030
    • Buckwalter, M.S.1    Cook, S.A.2    Davisson, M.T.3    White, W.F.4    Camper, S.5
  • 11
    • 0024721995 scopus 로고
    • Primary cultures of mouse spinal cord express the neonatal isoform of the inhibitory glycine receptor
    • 11. Hoch W., Betz H. and Becker C.-M. (1989) Primary cultures of mouse spinal cord express the neonatal isoform of the inhibitory glycine receptor. Neuron 3, 339-348.
    • (1989) Neuron , vol.3 , pp. 339-348
    • Hoch, W.1    Betz, H.2    Becker, C.-M.3
  • 12
    • 0028175530 scopus 로고
    • Glycine receptor β-subunit gene mutation in spastic mouse associated with LINE-1 element insertion
    • 12. Kingsmore S. F., Giros B., Suh D., Bieniarz M., Caron M. G. and Seldin M. F. (1994) Glycine receptor β-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nat. Genet. 7, 136-142.
    • (1994) Nat. Genet. , vol.7 , pp. 136-142
    • Kingsmore, S.F.1    Giros, B.2    Suh, D.3    Bieniarz, M.4    Caron, M.G.5    Seldin, M.F.6
  • 13
    • 0027723681 scopus 로고
    • Gephyrin antisense oligonucleotides prevent glycine receptor clustering in spinal neurons
    • 13. Kirsch J., Wolters I., Triller A. and Betz H. (1993) Gephyrin antisense oligonucleotides prevent glycine receptor clustering in spinal neurons. Nature 366, 745-748.
    • (1993) Nature , vol.366 , pp. 745-748
    • Kirsch, J.1    Wolters, I.2    Triller, A.3    Betz, H.4
  • 14
    • 0029962846 scopus 로고    scopus 로고
    • Increased startle response in mice carrying mutations of glycine receptor subunit genes
    • 14. Koch M., Kling C. and Becker C.-M. (1996) Increased startle response in mice carrying mutations of glycine receptor subunit genes. NeuroReport 7, 806-808.
    • (1996) NeuroReport , vol.7 , pp. 806-808
    • Koch, M.1    Kling, C.2    Becker, C.-M.3
  • 15
    • 0029044590 scopus 로고
    • The inhibitory glycine receptor: Architecture, synaptic localization and molecular pathology of a postsynaptic ion-channel complex
    • 15. Kuhse J., Betz H. and Kirsch J. (1995) The inhibitory glycine receptor: architecture, synaptic localization and molecular pathology of a postsynaptic ion-channel complex. Curr. Opin. Neurobiol. 5, 318-323.
    • (1995) Curr. Opin. Neurobiol. , vol.5 , pp. 318-323
    • Kuhse, J.1    Betz, H.2    Kirsch, J.3
  • 16
    • 0027716526 scopus 로고
    • Assembly of the inhibitory glycine receptor: Identification of amino acid sequence motifs governing subunit stoichiometry
    • 16. Kuhse J., Laube B., Magalei D. and Betz H. (1993) Assembly of the inhibitory glycine receptor: identification of amino acid sequence motifs governing subunit stoichiometry. Neuron 11, 1049-1056.
    • (1993) Neuron , vol.11 , pp. 1049-1056
    • Kuhse, J.1    Laube, B.2    Magalei, D.3    Betz, H.4
  • 17
    • 0025879630 scopus 로고
    • Alternative splicing generates two variants of the alpha-1 subunit of the inhibitory glycine receptors
    • 17. Malosio M. L., Grenningloh G., Kuhse J., Schmieden V., Schmitt B., Prior P. and Betz H. (1991) Alternative splicing generates two variants of the alpha-1 subunit of the inhibitory glycine receptors. J. Biol. Chem. 266, 2048-2053.
    • (1991) J. Biol. Chem. , vol.266 , pp. 2048-2053
    • Malosio, M.L.1    Grenningloh, G.2    Kuhse, J.3    Schmieden, V.4    Schmitt, B.5    Prior, P.6    Betz, H.7
  • 19
    • 0029124881 scopus 로고
    • Identification of a gephyrin binding motif on the glycine receptor beta subunit
    • 19. Meyer G., Kirsch J., Betz H. and Langosch D. (1995) Identification of a gephyrin binding motif on the glycine receptor beta subunit. Neuron 15, 563-572.
    • (1995) Neuron , vol.15 , pp. 563-572
    • Meyer, G.1    Kirsch, J.2    Betz, H.3    Langosch, D.4
  • 20
    • 0030023318 scopus 로고    scopus 로고
    • A novel mutation (Gln266→His) in the alpha1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia
    • 20. Milani N., Dalpra L., Delprete A., Zanini R. and Larizza L. (1996) A novel mutation (Gln266→His) in the alpha1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. Am. J. Hum. Genet. 58, 420-422.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 420-422
    • Milani, N.1    Dalpra, L.2    Delprete, A.3    Zanini, R.4    Larizza, L.5
  • 21
    • 0027996651 scopus 로고
    • The spastic mouse: Aberrant splicing of glycine receptor β subunit mRNA caused by intronic insertion of L1 element
    • 21. Mülhardt C., Fischer M., Gass P., Simon-Chazottes D., Guénet J.-L., Kuhse J., Betz H. and 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.
    • (1994) Neuron , vol.13 , pp. 1003-1015
    • Mülhardt, C.1    Fischer, M.2    Gass, P.3    Simon-Chazottes, D.4    Guénet, J.-L.5    Kuhse, J.6    Betz, H.7    Becker, C.-M.8
  • 22
    • 0020405932 scopus 로고
    • Purification by affinity chromatography of the glycine receptor of rat spinal cord
    • 22. Pfeiffer F., Graham D. and Betz H. (1982) Purification by affinity chromatography of the glycine receptor of rat spinal cord. J. biol. Chem. 257, 9389-9393.
    • (1982) J. Biol. Chem. , vol.257 , pp. 9389-9393
    • Pfeiffer, F.1    Graham, D.2    Betz, H.3
  • 26
    • 0025967723 scopus 로고
    • Mapping of antigenic epitopes on the α1 subunit of the inhibitory glycine receptor
    • 26. Schröder S., Hoch W., Becker C.-M., Grenningloh G. and Betz H. (1991) Mapping of antigenic epitopes on the α1 subunit of the inhibitory glycine receptor. Biochemistry 30, 42-47.
    • (1991) Biochemistry , vol.30 , pp. 42-47
    • Schröder, S.1    Hoch, W.2    Becker, C.-M.3    Grenningloh, G.4    Betz, H.5
  • 28
    • 0027330927 scopus 로고
    • Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
    • 28. Shiang R., Ryan S. G., Zhu Y. Z., Hahn A. F., O'Connell P. and Wasmuth J. J. (1993) Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat. Genet. 5, 351-358.
    • (1993) Nat. Genet. , vol.5 , pp. 351-358
    • Shiang, R.1    Ryan, S.G.2    Zhu, Y.Z.3    Hahn, A.F.4    O'Connell, P.5    Wasmuth, J.J.6
  • 29
    • 0029414677 scopus 로고
    • A receptors in the pathogenesis of spinal myoclonus: In vitro studies in the isolated neonatal rodent spinal cord
    • A receptors in the pathogenesis of spinal myoclonus: in vitro studies in the isolated neonatal rodent spinal cord. Neurology 45, 1883-1892.
    • (1995) Neurology , vol.45 , pp. 1883-1892
    • Simon, E.S.1
  • 30
    • 0030970098 scopus 로고    scopus 로고
    • Phenotypic heterogeneity and disease course in three murine strains with mutations in genes encoding for α1 and β glycine receptor subunits
    • in press
    • 30. Simon E. S. (1997) Phenotypic heterogeneity and disease course in three murine strains with mutations in genes encoding for α1 and β glycine receptor subunits. Movement Disord. 12 (in press).
    • (1997) Movement Disord. , vol.12
    • Simon, E.S.1
  • 31
    • 0028801734 scopus 로고
    • The relationship between glycine and gephyrin in synapses of the rat spinal cord
    • 31. Todd A. J., Spike R. C., Chong D. and Neilson M. (1995) The relationship between glycine and gephyrin in synapses of the rat spinal cord. Eur. J. Neurosci. 7, 1-11.
    • (1995) Eur. J. Neurosci. , vol.7 , pp. 1-11
    • Todd, A.J.1    Spike, R.C.2    Chong, D.3    Neilson, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.