메뉴 건너뛰기




Volumn 88, Issue 3, 1997, Pages 385-392

Mutation of the Ca2+ channel β subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; CALCIUM ION; GENE PRODUCT; PROTEIN SUBUNIT; MESSENGER RNA;

EID: 0030614535     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0092-8674(00)81877-2     Document Type: Article
Times cited : (377)

References (54)
  • 1
    • 0024430853 scopus 로고
    • Intrinsic properties of nucleus reticularis thalami neurones of the rat studied in vitro
    • Avanzini, G., de Curtis, M., Panzica, F., and Spreafico, R. (1986). Intrinsic properties of nucleus reticularis thalami neurones of the rat studied in vitro. J. Physiol. (London) 416, 111-122.
    • (1986) J. Physiol. (London) , vol.416 , pp. 111-122
    • Avanzini, G.1    De Curtis, M.2    Panzica, F.3    Spreafico, R.4
  • 2
    • 0028124225 scopus 로고
    • Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCN1A
    • Browne, D.L., Gancher, S.T., Nutt, J.G., Brunt, E.R., Smith, E.A., Kramer, P., and Litt, M. (1994). Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCN1A. Nat. Genet. 8, 136-140.
    • (1994) Nat. Genet. , vol.8 , pp. 136-140
    • Browne, D.L.1    Gancher, S.T.2    Nutt, J.G.3    Brunt, E.R.4    Smith, E.A.5    Kramer, P.6    Litt, M.7
  • 5
    • 0027225475 scopus 로고
    • Cloning and expression of a neuronal calcium channel β subunit
    • Castellano, A., Wei, X., Birnbaumer, L., and Perez-Reyes, E. (1993). Cloning and expression of a neuronal calcium channel β subunit. J. Biol. Chem. 268, 12359-12366.
    • (1993) J. Biol. Chem. , vol.268 , pp. 12359-12366
    • Castellano, A.1    Wei, X.2    Birnbaumer, L.3    Perez-Reyes, E.4
  • 6
    • 0026042374 scopus 로고
    • Functional subunit structure of voltage-gated calcium channels
    • Catterall, W.A. (1991). Functional subunit structure of voltage-gated calcium channels. Science 253, 1499-1500.
    • (1991) Science , vol.253 , pp. 1499-1500
    • Catterall, W.A.1
  • 7
    • 0029130953 scopus 로고
    • Genetic mapping of the mouse genes encoding the voltage-sensitive calcium channel subunits
    • Chin, H., Kwon, O.J., Jung, H.H., Kim, D.S., and Kozak, C.A. (1995). Genetic mapping of the mouse genes encoding the voltage-sensitive calcium channel subunits. Genomics 28, 592-595.
    • (1995) Genomics , vol.28 , pp. 592-595
    • Chin, H.1    Kwon, O.J.2    Jung, H.H.3    Kim, D.S.4    Kozak, C.A.5
  • 8
    • 0024318689 scopus 로고
    • Calcium currents in rat thalamocortical relay neurones: Kinetic properties of the transient, low-threshold current
    • Coulter, D.A., Huguenard, J.R., and Prince, D.A. (1989). Calcium currents in rat thalamocortical relay neurones: kinetic properties of the transient, low-threshold current. J. Physiol. 414, 587-604.
    • (1989) J. Physiol. , vol.414 , pp. 587-604
    • Coulter, D.A.1    Huguenard, J.R.2    Prince, D.A.3
  • 12
    • 0017629265 scopus 로고
    • Deficiency in the thymus-dependent immunity in "lethargic" mutant mice
    • Dung, H.C. (1977). Deficiency in the thymus-dependent immunity in "lethargic" mutant mice. Transplantation 23, 39-43.
    • (1977) Transplantation , vol.23 , pp. 39-43
    • Dung, H.C.1
  • 13
    • 0015121747 scopus 로고
    • Experimental studies of "lethargic" mutant mice
    • Dung, H.C., and Swigart, R.H. (1971). Experimental studies of "lethargic" mutant mice. Tex. Rep. Biol. Med. 29, 273-288.
    • (1971) Tex. Rep. Biol. Med. , vol.29 , pp. 273-288
    • Dung, H.C.1    Swigart, R.H.2
  • 14
    • 0015313299 scopus 로고
    • Histo-pathologic observations of the nervous and lymphoid tissues of "lethargic" mutant mice
    • Dung, H.C., and Swigart, R.H. (1972). Histo-pathologic observations of the nervous and lymphoid tissues of "lethargic" mutant mice. Tex. Rep. Biol. Med. 30, 23-39.
    • (1972) Tex. Rep. Biol. Med. , vol.30 , pp. 23-39
    • Dung, H.C.1    Swigart, R.H.2
  • 17
    • 0028987937 scopus 로고
    • Calcium signaling in neurons: Molecular mechanisms and cellular consequences
    • Ghosh, A., and Greenberg, M.E. (1995). Calcium signaling in neurons: molecular mechanisms and cellular consequences. Science 268, 239-247.
    • (1995) Science , vol.268 , pp. 239-247
    • Ghosh, A.1    Greenberg, M.E.2
  • 18
    • 0023577538 scopus 로고
    • Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme
    • Hidaka, Y., Palella, T.D., O'Toole, T.E., Tarle, S.A., and Kelley, W.N. (1987). Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. J. Clin. Invest. 80, 1409-1415.
    • (1987) J. Clin. Invest. , vol.80 , pp. 1409-1415
    • Hidaka, Y.1    Palella, T.D.2    O'Toole, T.E.3    Tarle, S.A.4    Kelley, W.N.5
  • 20
    • 0026670280 scopus 로고
    • 2+-dependent burst firing in GABAergic neurons of rat thalamic reticular nucleus
    • 2+-dependent burst firing in GABAergic neurons of rat thalamic reticular nucleus. J. Neurosci. 12, 3804-3817.
    • (1992) J. Neurosci. , vol.12 , pp. 3804-3817
    • Huguenard, J.R.1    Prince, D.A.2
  • 21
    • 0027958970 scopus 로고
    • Intrathalamic rhythmicity studied in vitro: Nominal T current modulation causes robust anti-oscillatory effects
    • Huguenard, J.R., and Prince, D.A. (1994). Intrathalamic rhythmicity studied in vitro: nominal T current modulation causes robust anti-oscillatory effects. J. Neurosci. 14, 5485-5502.
    • (1994) J. Neurosci. , vol.14 , pp. 5485-5502
    • Huguenard, J.R.1    Prince, D.A.2
  • 22
    • 0021287169 scopus 로고
    • Electrophysiological properties of guinea-pig thalamic neurones: An in vitro study
    • Jahnsen, H., and Llinas, R. (1984). Electrophysiological properties of guinea-pig thalamic neurones: an in vitro study. J. Physiol. 349, 205-226.
    • (1984) J. Physiol. , vol.349 , pp. 205-226
    • Jahnsen, H.1    Llinas, R.2
  • 23
    • 0030015959 scopus 로고    scopus 로고
    • J alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron
    • J alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron. J. Biol. Chem. 271, 17576-17581.
    • (1996) J. Biol. Chem. , vol.271 , pp. 17576-17581
    • Kohrman, D.C.1    Harris, J.B.2    Meisler, M.H.3
  • 25
    • 0024328801 scopus 로고
    • Primary structure and functional expression of the cardiac dihydropyridine-sensitive calcium channel
    • Mikami, A., Imoto, K., Tanabe, T., Niidome, T., Mori, Y., Takeshima, H., Narumiya, S., and Numa, S. (1989). Primary structure and functional expression of the cardiac dihydropyridine-sensitive calcium channel. Nature 340, 230-233.
    • (1989) Nature , vol.340 , pp. 230-233
    • Mikami, A.1    Imoto, K.2    Tanabe, T.3    Niidome, T.4    Mori, Y.5    Takeshima, H.6    Narumiya, S.7    Numa, S.8
  • 27
    • 0011320774 scopus 로고    scopus 로고
    • November, Mouse Genome Informatics, The Jackson Laboratory, Bar Harbor, Maine. World Wide Web
    • Mouse Genome Database (MGD) 3.1. (November, 1996). Mouse Genome Informatics, The Jackson Laboratory, Bar Harbor, Maine. World Wide Web (URL: http://www.informatics.jax.org/).
    • (1996) Mouse Genome Database (MGD) 3.1
  • 28
    • 0029864711 scopus 로고    scopus 로고
    • 3 subunit, cDNA and characterization of alternative splicing and transcription products
    • 3 subunit, cDNA and characterization of alternative splicing and transcription products. Eur. J. Biochem. 236, 138-143.
    • (1996) Eur. J. Biochem. , vol.236 , pp. 138-143
    • Murakami, M.1    Wissenbach, U.2    Flockerzi, V.3
  • 29
    • 0028222873 scopus 로고
    • Construction of a novel database containing aberrant splicing mutations of mammalian genes
    • Nakai, K., and Sakamoto, H. (1994). Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141, 171-177.
    • (1994) Gene , vol.141 , pp. 171-177
    • Nakai, K.1    Sakamoto, H.2
  • 30
    • 0018416478 scopus 로고
    • Inherited epilepsy: Spike-wave and focal motor seizures in the mutant mouse tottering
    • Noebels, J.L., and Sidman, R.L. (1979). Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering. Science 204, 1334-1336.
    • (1979) Science , vol.204 , pp. 1334-1336
    • Noebels, J.L.1    Sidman, R.L.2
  • 31
    • 0010513808 scopus 로고
    • Three mutations causing spike-wave seizures in the mouse
    • Noebels, J.L., and Sidman, R.L. (1982). Three mutations causing spike-wave seizures in the mouse. Neuroscience [Suppl.] 7, 159-160.
    • (1982) Neuroscience [Suppl.] , vol.7 , pp. 159-160
    • Noebels, J.L.1    Sidman, R.L.2
  • 32
    • 0028605745 scopus 로고
    • The amino terminus of a calcium channel beta subunit sets rates of channel inactivation independently of the subunit's effect on activation
    • Olcese, R., Qin, N., Schneider, T., Neely, A., Wei, X., Stefani, E., and Birnbaumer, L. (1994). The amino terminus of a calcium channel beta subunit sets rates of channel inactivation independently of the subunit's effect on activation. Neuron 13, 1433-1438.
    • (1994) Neuron , vol.13 , pp. 1433-1438
    • Olcese, R.1    Qin, N.2    Schneider, T.3    Neely, A.4    Wei, X.5    Stefani, E.6    Birnbaumer, L.7
  • 34
    • 0024406855 scopus 로고
    • Induction of calcium currents by the expression of the alpha 1 subunit of the dihydropyridine receptor from skeletal muscle
    • Perez-Reyes, E., Kim, H.S., Lacerda, A.E., Horne, W., Wei, X.Y., Rampe, D., Campbell, K.P., Brown, A.M., and Birnbaumer, L. (1989). Induction of calcium currents by the expression of the alpha 1 subunit of the dihydropyridine receptor from skeletal muscle. Nature 340, 233-236.
    • (1989) Nature , vol.340 , pp. 233-236
    • Perez-Reyes, E.1    Kim, H.S.2    Lacerda, A.E.3    Horne, W.4    Wei, X.Y.5    Rampe, D.6    Campbell, K.P.7    Brown, A.M.8    Birnbaumer, L.9
  • 35
    • 0028179146 scopus 로고
    • Calcium channel beta-subunit binds to a conserved motif in the I-II cytoplasmic linker of the alpha 1-subunit
    • Pragnell, M., De Waard, M., Mori, Y., Tanabe, T., Snutch, T.P., and Campbell, K.P. (1994). Calcium channel beta-subunit binds to a conserved motif in the I-II cytoplasmic linker of the alpha 1-subunit. Nature 368, 67-70.
    • (1994) Nature , vol.368 , pp. 67-70
    • Pragnell, M.1    De Waard, M.2    Mori, Y.3    Tanabe, T.4    Snutch, T.P.5    Campbell, K.P.6
  • 37
    • 0027237602 scopus 로고
    • Distinctive biophysical and pharmacological properties of class A (BI) calcium channel alpha 1 subunits
    • Sather, W.A., Tanabe, T., Zhang, J.F., Mori, Y., Adams, M.E., and Tsien, R.W. (1993). Distinctive biophysical and pharmacological properties of class A (BI) calcium channel alpha 1 subunits. Neuron 11, 291-303.
    • (1993) Neuron , vol.11 , pp. 291-303
    • Sather, W.A.1    Tanabe, T.2    Zhang, J.F.3    Mori, Y.4    Adams, M.E.5    Tsien, R.W.6
  • 39
    • 0025942910 scopus 로고
    • The roles of the subunits in the function of the calcium channel
    • Singer, D., Biel, M., Lotan, I., Flockerzi, V., Hofmann, F., and Dascal, N. (1991). The roles of the subunits in the function of the calcium channel. Science 253, 1553-1557.
    • (1991) Science , vol.253 , pp. 1553-1557
    • Singer, D.1    Biel, M.2    Lotan, I.3    Flockerzi, V.4    Hofmann, F.5    Dascal, N.6
  • 41
    • 0027299748 scopus 로고
    • Structure and functional expression of a member of the low voltage-activated calcium channel family
    • Soong, T.W., Stea, A., Hodson, C.D., Dubel, S.J., Vincent, S.R., and Snutch, T.P. (1993). Structure and functional expression of a member of the low voltage-activated calcium channel family. Science 260, 1133-1136.
    • (1993) Science , vol.260 , pp. 1133-1136
    • Soong, T.W.1    Stea, A.2    Hodson, C.D.3    Dubel, S.J.4    Vincent, S.R.5    Snutch, T.P.6
  • 42
    • 0343678939 scopus 로고
    • Lethargic linked to Sd
    • Southard, J.L. (1973). Lethargic linked to Sd. Mouse News Lett. 49, 32.
    • (1973) Mouse News Lett. , vol.49 , pp. 32
    • Southard, J.L.1
  • 44
    • 0027054380 scopus 로고
    • Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites
    • Stephens, R.M., and Schneider, T.D. (1992). Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites. J. Mol. Biol. 228, 1124-1136.
    • (1992) J. Mol. Biol. , vol.228 , pp. 1124-1136
    • Stephens, R.M.1    Schneider, T.D.2
  • 45
    • 0028937345 scopus 로고
    • 2+ channels: Four subtypes of α1-and β-subunits in developing and mature rat brain
    • 2+ channels: four subtypes of α1-and β-subunits in developing and mature rat brain. Mol. Brain Res. 30, 1-16.
    • (1995) Mol. Brain Res. , vol.30 , pp. 1-16
    • Tanaka, O.1    Sakagami, H.2    Kondo, H.3
  • 47
    • 0028946378 scopus 로고
    • Selective increase in T-type calcium conductance of reticular thalamic neurons in a rat model of absence epilepsy
    • Tsakiridou, E., Bertollini, L., de Curtis, M., Avanzini, G., and Pape, H.C. (1995). Selective increase in T-type calcium conductance of reticular thalamic neurons in a rat model of absence epilepsy. J. Neurosci. 15, 3110-3117.
    • (1995) J. Neurosci. , vol.15 , pp. 3110-3117
    • Tsakiridou, E.1    Bertollini, L.2    De Curtis, M.3    Avanzini, G.4    Pape, H.C.5
  • 48
    • 0025245420 scopus 로고
    • Calcium channels, stores, and oscillations
    • Tsien, R.W., and Tsien, R.Y. (1990). Calcium channels, stores, and oscillations. Annu. Rev. Cell Biol. 6, 715-760.
    • (1990) Annu. Rev. Cell Biol. , vol.6 , pp. 715-760
    • Tsien, R.W.1    Tsien, R.Y.2
  • 49
    • 0023792166 scopus 로고
    • Molecular basis for the defective expression of the mouse Ew17 beta gene
    • Vu, T.H., Tacchini-Cottier, F.M., Day, C.E., Begovich, A.B., and Jones, P.P. (1988). Molecular basis for the defective expression of the mouse Ew17 beta gene. J. Immunol. 141, 3654-3661.
    • (1988) J. Immunol. , vol.141 , pp. 3654-3661
    • Vu, T.H.1    Tacchini-Cottier, F.M.2    Day, C.E.3    Begovich, A.B.4    Jones, P.P.5
  • 50
    • 0027446365 scopus 로고
    • Isolation of a cadidate gene for Menkes disease and evidence that it encodes a copper transporting ATPase
    • Vulpe, C., Levinson, B., Whitney, S., and Gitschier, J. (1993). Isolation of a cadidate gene for Menkes disease and evidence that it encodes a copper transporting ATPase. Nature Genet. 3, 7-13.
    • (1993) Nature Genet. , vol.3 , pp. 7-13
    • Vulpe, C.1    Levinson, B.2    Whitney, S.3    Gitschier, J.4
  • 52
    • 0029671281 scopus 로고    scopus 로고
    • 2+ channels is a single transmembrane extracellular protein which is involved in regulated secretion
    • 2+ channels is a single transmembrane extracellular protein which is involved in regulated secretion. FEBS Lett. 379, 15-20.
    • (1996) FEBS Lett. , vol.379 , pp. 15-20
    • Wiser, O.1    Trus, M.2    Tobi, D.3    Halevi, S.4    Giladi, E.5    Atlas, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.