메뉴 건너뛰기




Volumn 2, Issue 11-12, 2009, Pages 612-619

Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release

Author keywords

[No Author keywords available]

Indexed keywords

DENDROTOXIN; POTASSIUM CHANNEL KV1.1; TETRYLAMMONIUM;

EID: 70549084719     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.003582     Document Type: Article
Times cited : (32)

References (39)
  • 1
    • 0029560754 scopus 로고
    • Episodic ataxia results from voltage-dependent potassium channels with altered functions
    • DOI 10.1016/0896-6273(95)90022-5
    • Adelman, J. P., Bond, C. T., Pessia, M. and Maylie, J. (1995). Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 15, 1449-1454. (Pubitemid 26005381)
    • (1995) Neuron , vol.15 , Issue.6 , pp. 1449-1454
    • Adelman, J.P.1    Bond, C.T.2    Pessia, M.3    Maylie, J.4
  • 2
    • 0037114030 scopus 로고    scopus 로고
    • 2+ channel activation in hippocampal mossy fiber boutons
    • Bischofberger, J., Geiger, J. R. P. and Jonas, P. (2002). Timing and efficacy of Ca2+ channel activation in hippocampal mossy fiber boutons. J. Neurosci. 22, 10593-10602. (Pubitemid 36007802)
    • (2002) Journal of Neuroscience , vol.22 , Issue.24 , pp. 10593-10602
    • Bischofberger, J.1    Geiger, J.R.P.2    Jonas, P.3
  • 3
    • 0032951848 scopus 로고    scopus 로고
    • Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel
    • Boland, L. M., Price, D. L. and Jackson, K. A. (1999). Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel. Neuroscience 91, 1557-1564.
    • (1999) Neuroscience , vol.91 , pp. 1557-1564
    • Boland, L.M.1    Price, D.L.2    Jackson, K.A.3
  • 4
    • 0032968999 scopus 로고    scopus 로고
    • Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1)
    • DOI 10.1046/j.1460-9568.1999.00659.x
    • Bretschneider, F., Wrisch, A., Lehmann-Horn, F. and Grissmer, S. (1999). Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1). Eur. J. Neurosci. 11, 2403-2412. (Pubitemid 29292335)
    • (1999) European Journal of Neuroscience , vol.11 , Issue.7 , pp. 2403-2412
    • Bretschneider, F.1    Wrisch, A.2    Lehmann-Horn, F.3    Grissmer, S.4
  • 5
    • 0037383828 scopus 로고    scopus 로고
    • Hyperexcitability and reduced low threshold potassium currents in auditory neurons of mice lacking the channel subunit Kv1.1
    • Brew, H. M., Hallows, J. L. and Tempel, B. L. (2003). Hyperexcitability and reduced low threshold potassium currents in auditory neurons of mice lacking the channel subunit Kv1.1. J. Physiol. 548, 1-20.
    • (2003) J. Physiol. , vol.548 , pp. 1-20
    • Brew, H.M.1    Hallows, J.L.2    Tempel, B.L.3
  • 6
    • 0028124225 scopus 로고
    • Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
    • DOI 10.1038/ng1094-136
    • 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, KCNA1. Nat. Genet. 8, 136-140. (Pubitemid 24308360)
    • (1994) Nature Genetics , vol.8 , Issue.2 , pp. 136-140
    • Browne, D.L.1    Gancher, S.T.2    Nutt, J.G.3    Brunt, E.R.P.4    Smith, E.A.5    Kramer, P.6    Litt, M.7
  • 7
    • 33847666125 scopus 로고    scopus 로고
    • Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia
    • DOI 10.1007/s10048-006-0071-z
    • Chen, H., von Hehn, C., Kaczmarek, L. K., Ment, L. R., Pober, B. R. and Hisama, F. M. (2007). Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics 8, 131-135. (Pubitemid 46356244)
    • (2007) Neurogenetics , vol.8 , Issue.2 , pp. 131-135
    • Chen, H.1    Von Hehn, C.2    Kaczmarek, L.K.3    Ment, L.R.4    Pober, B.R.5    Hisama, F.M.6
  • 8
    • 0029958199 scopus 로고    scopus 로고
    • Episodic ataxia and myokymia syndrome: A new mutation of potassium channel gene Kv1.1
    • DOI 10.1002/ana.410400422
    • Comu, S., Giuliani, M. and Narayanan, V. (1996). Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1. Ann. Neurol. 40, 684-687. (Pubitemid 26357897)
    • (1996) Annals of Neurology , vol.40 , Issue.4 , pp. 684-687
    • Comu, S.1    Giuliani, M.2    Narayanan, V.3
  • 9
    • 0032473349 scopus 로고    scopus 로고
    • Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel
    • DOI 10.1093/emboj/17.5.1200
    • D'Adamo, M. C., Liu, Z., Adelman, J. P., Maylie, J. and Pessia, M. (1998). Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel. EMBO J. 17, 1200-1207. (Pubitemid 28105499)
    • (1998) EMBO Journal , vol.17 , Issue.5 , pp. 1200-1207
    • D'Adamo, M.C.1    Liu, Z.2    Adelman, J.P.3    Maylie, J.4    Pessia, M.5
  • 11
    • 0034523583 scopus 로고    scopus 로고
    • Dynamic control of presynaptic Ca(2+) inflow by fast-inactivating K(+) channels in hippocampal mossy fiber boutons
    • Geiger, J. R. and Jonas, P. (2000). Dynamic control of presynaptic Ca(2+) inflow by fast-inactivating K(+) channels in hippocampal mossy fiber boutons. Neuron 28, 927-939.
    • (2000) Neuron , vol.28 , pp. 927-939
    • Geiger, J.R.1    Jonas, P.2
  • 12
    • 42949154358 scopus 로고    scopus 로고
    • + Channels at the Axon Initial Segment Dampen Near-Threshold Excitability of Neocortical Fast-Spiking GABAergic Interneurons
    • DOI 10.1016/j.neuron.2008.03.003, PII S089662730800216X
    • Goldberg, E. M., Clark, B. D., Zagha, E., Nahmani, M., Erisir, A. and Rudy, B. (2008). K+ channels at the axon initial segment dampen near-threshold excitability of neocortical fast-spiking GABAergic interneurons. Neuron 58, 387-400. (Pubitemid 351615188)
    • (2008) Neuron , vol.58 , Issue.3 , pp. 387-400
    • Goldberg, E.M.1    Clark, B.D.2    Zagha, E.3    Nahmani, M.4    Erisir, A.5    Rudy, B.6
  • 14
    • 0025291732 scopus 로고
    • Cloning and expression of a human voltage-gated potassium channel. a novel member of the RCK potassium channel family
    • Grupe, A., Schröter, K. H., Ruppersberg, J. P., Stocker, M., Drewes, T., Beckh, S. and Pongs, O. (1990). Cloning and expression of a human voltage-gated potassium channel: a novel member of the RCK potassium channel family. EMBO J. 9, 1749-1756. (Pubitemid 20170006)
    • (1990) EMBO Journal , vol.9 , Issue.6 , pp. 1749-1756
    • Grupe, A.1    Schroter, K.H.2    Ruppersberg, J.P.3    Stocker, M.4    Drewes, T.5    Beckh, S.6    Pongs, O.7
  • 16
    • 0028295266 scopus 로고
    • + channels
    • Hopkins, W. F., Demas, V. and Tempel, B. L. (1994). Both N- and C-terminal regions contribute to the assembly and functional expression of homo- and heteromultimeric voltage-gated K+ channels. J. Neurosci. 14, 1385-1393. (Pubitemid 24081931)
    • (1994) Journal of Neuroscience , vol.14 , Issue.3 I , pp. 1385-1393
    • Hopkins, W.F.1    Demas, V.2    Tempel, B.L.3
  • 17
    • 4444286698 scopus 로고    scopus 로고
    • Expanding the phenotype of potassium channelopathy: Severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia
    • DOI 10.1016/j.nmd.2004.06.007, PII S0960896604001749
    • Kinali, M., Jungbluth, H., Eunson, L. H., Sewry, C. A., Manzur, A. Y., Mercuri, E., Hanna, M. G. and Muntoni, F. (2004). Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. Neuromuscul. Disord. 14, 689-693. (Pubitemid 39194670)
    • (2004) Neuromuscular Disorders , vol.14 , Issue.10 , pp. 689-693
    • Kinali, M.1    Jungbluth, H.2    Eunson, L.H.3    Sewry, C.A.4    Manzur, A.Y.5    Mercuri, E.6    Hanna, M.G.7    Muntoni, F.8
  • 18
    • 34547657448 scopus 로고    scopus 로고
    • Axon initial segment Kv1 channels control axonal action potential waveform and synaptic efficacy
    • Kole, M. H. P., Letzkus, J. J. and Stuart, G. J. (2007). Axon initial segment Kv1 channels control axonal action potential waveform and synaptic efficacy. Neuron 55, 633-647.
    • (2007) Neuron , vol.55 , pp. 633-647
    • Kole, M.H.P.1    Letzkus, J.J.2    Stuart, G.J.3
  • 19
    • 0141954050 scopus 로고    scopus 로고
    • Decreased temporal precision of auditory signaling in Kcna1-null mice: An electrophysiological study in vivo
    • Kopp-Scheinpflug, C., Fuchs, K., Lippe, W. R., Tempel, B. L. and Rubsamen, R. (2003). Decreased temporal precision of auditory signaling in Kcna1-null mice: an electrophysiological study in vivo. J. Neurosci. 23, 9199-9207. (Pubitemid 37243821)
    • (2003) Journal of Neuroscience , vol.23 , Issue.27 , pp. 9199-9207
    • Kopp-Scheinpflug, C.1    Fuchs, K.2    Lippe, W.R.3    Tempel, B.L.4    Rubsamen, R.5
  • 20
    • 33745594600 scopus 로고    scopus 로고
    • The distribution and targeting of neuronal voltage-gated ion channels
    • DOI 10.1038/nrn1938, PII N1938
    • Lai, H. C. and Jan, L. Y. (2006). The distribution and targeting of neuronal voltagegated ion channels. Nat. Rev. Neurosci. 7, 548-562. (Pubitemid 43989774)
    • (2006) Nature Reviews Neuroscience , vol.7 , Issue.7 , pp. 548-562
    • Lai, H.C.1    Jan, L.Y.2
  • 22
    • 0035965991 scopus 로고    scopus 로고
    • Episodic Ataxia Type-1 Mutations in the Kv1.1 Potassium Channel Display Distinct Folding and Intracellular Trafficking Properties
    • DOI 10.1074/jbc.M109325200
    • Manganas, L. N., Akhtar, S., Antonucci, D. E., Campomanes, C. R., Dolly, J. O. and Trimmer, J. S. (2001). Episodic ataxia type-1 mutations in the Kv1.1 potassium channel display distinct folding and intracellular trafficking properties. J. Biol. Chem. 276, 49427-49434. (Pubitemid 37370656)
    • (2001) Journal of Biological Chemistry , vol.276 , Issue.52 , pp. 49427-49434
    • Manganas, L.N.1    Akhtar, S.2    Antonucci, D.E.3    Campomanes, C.R.4    Dolly, J.O.5    Trimmer, J.S.6
  • 23
    • 0032531786 scopus 로고    scopus 로고
    • + channels of fast-spiking interneurons and pyramidal neurons of rat hippocampus
    • Martina, M., Schultz, J. H., Ehmke, H., Monyer, H. and Jonas, P. (1998). Functional and molecular differences between voltage-gated K+ channels of fast-spiking interneurons and pyramidal neurons of rat hippocampus. J. Neurosci. 18, 8111-8125. (Pubitemid 28464990)
    • (1998) Journal of Neuroscience , vol.18 , Issue.20 , pp. 8111-8125
    • Martina, M.1    Schultz, J.H.2    Ehmke, H.3    Monyer, H.4    Jonas, P.5
  • 24
    • 33947506783 scopus 로고    scopus 로고
    • Episodic Ataxia Type 1: A Neuronal Potassium Channelopathy
    • DOI 10.1016/j.nurt.2007.01.010, PII S1933721307000116
    • Rajakulendran, S., Schorge, S., Kullmann, D. M. and Hanna, M. G. (2007). Episodic ataxia type 1, a neuronal potassium channelopathy. Neurotherapeutics 4, 258-266. (Pubitemid 46467545)
    • (2007) Neurotherapeutics , vol.4 , Issue.2 , pp. 258-266
    • Rajakulendran, S.1    Schorge, S.2    Kullmann, D.M.3    Hanna, M.G.4
  • 26
    • 0036400556 scopus 로고    scopus 로고
    • + channel subunit dysfunction in inherited mutations of KCNA1
    • DOI 10.1113/jphysiol.2001.013242
    • Rea, R., Spauschus, A., Eunson, L. H., Hanna, M. G. and Kullmann, D. M. (2002). Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1. J. Physiol. 538, 5-23. (Pubitemid 35190034)
    • (2002) Journal of Physiology , vol.538 , Issue.1 , pp. 5-23
    • Rea, R.1    Spauschus, A.2    Eunson, L.H.3    Hanna, M.G.4    Kullmann, D.M.5
  • 27
    • 0028244525 scopus 로고
    • + channels altered by presence of beta-subunit
    • DOI 10.1038/369289a0
    • Rettig, J., Heinemann, S. H., Wunder, F., Lorra, C., Parcej, D. N., Dolly, J. O. and Pongs, O. (1994). Inactivation properties of voltage-gated K+ channels altered by presence of beta-subunit. Nature 369, 289-294. (Pubitemid 24159535)
    • (1994) Nature , vol.369 , Issue.6478 , pp. 289-294
    • Rettig, J.1    Helnemann, S.H.2    Wunder, F.3    Lorra, C.4    Parcej, D.N.5    Dolly, J.O.6    Pongs, O.7
  • 28
    • 0035451064 scopus 로고    scopus 로고
    • + channels designed for high-frequency repetitive firing
    • DOI 10.1016/S0166-2236(00)01892-0, PII S0166223600018920
    • Rudy, B. and McBain, C. J. (2001). Kv3 channels: voltage-gated K+ channels designed for high-frequency repetitive firing. Trends Neurosci. 24, 517-526. (Pubitemid 32744706)
    • (2001) Trends in Neurosciences , vol.24 , Issue.9 , pp. 517-526
    • Rudy, B.1    McBain, C.J.2
  • 29
    • 0036094917 scopus 로고    scopus 로고
    • Channels underlying neuronal calcium-activated potassium currents
    • DOI 10.1016/S0301-0082(02)00004-7, PII S0301008202000047
    • Sah, P. and Faber, E. S. L. (2002). Channels underlying neuronal calcium-activated potassium currents. Prog. Neurobiol. 66, 345-353. (Pubitemid 34518289)
    • (2002) Progress in Neurobiology , vol.66 , Issue.5 , pp. 345-353
    • Sah, P.1    Louise Faber, E.S.2
  • 31
    • 0033152473 scopus 로고    scopus 로고
    • Released fraction and total size of a pool of immediately available transmitter quanta at a calyx synapse
    • DOI 10.1016/S0896-6273(00)80789-8
    • Schneggenburger, R., Meyer, A. C. and Neher, E. (1999). Released fraction and total size of a pool of immediately available transmitter quanta at a calyx synapse. Neuron 23, 399-409. (Pubitemid 29315733)
    • (1999) Neuron , vol.23 , Issue.2 , pp. 399-409
    • Schneggenburger, R.1    Meyer, A.C.2    Neher, E.3
  • 32
    • 0031915845 scopus 로고    scopus 로고
    • Patch-clamp recordings from cerebellar basket cell bodies and their presynaptic terminals reveal an asymmetric distribution of voltage-gated potassium channels
    • Southan, A. P. and Robertson, B. (1998). Patch-clamp recordings from cerebellar basket cell bodies and their presynaptic terminals reveal an asymmetric distribution of voltage-gated potassium channels. J. Neurosci. 18, 948-955.
    • (1998) J. Neurosci. , vol.18 , pp. 948-955
    • Southan, A.P.1    Robertson, B.2
  • 33
    • 55949121591 scopus 로고    scopus 로고
    • Localization and targeting of voltage-dependent ion channels in mammalian central neurons
    • Vacher, H., Mohapatra, D. P. and Trimmer, J. S. (2008). Localization and targeting of voltage-dependent ion channels in mammalian central neurons. Physiol. Rev. 88, 1407-1447.
    • (2008) Physiol. Rev. , vol.88 , pp. 1407-1447
    • Vacher, H.1    Mohapatra, D.P.2    Trimmer, J.S.3
  • 34
    • 0033168399 scopus 로고    scopus 로고
    • Alpha subunit compositions of Kv1.1- containing K+ channel subtypes fractionated from rat brain using dendrotoxins
    • Wang, F. C., Parcej, D. N. and Dolly, J. O. (1999). alpha subunit compositions of Kv1.1- containing K+ channel subtypes fractionated from rat brain using dendrotoxins. Eur. J. Biochem. 263, 230-237.
    • (1999) Eur. J. Biochem. , vol.263 , pp. 230-237
    • Wang, F.C.1    Parcej, D.N.2    Dolly, J.O.3
  • 35
    • 0027424441 scopus 로고
    • + channels in terminal and juxtaparanodal regions of neurons
    • DOI 10.1038/365075a0
    • Wang, H., Kunkel, D. D., Martin, T. M., Schwartzkroin, P. A. and Tempel, B. L. (1993). Heteromultimeric K+ channels in terminal and juxtaparanodal regions of neurons. Nature 365, 75-79. (Pubitemid 23305573)
    • (1993) Nature , vol.365 , Issue.6441 , pp. 75-79
    • Wang, H.1    Kunkel, D.D.2    Martin, T.M.3    Schwartzkroin, P.A.4    Tempel, B.L.5
  • 36
    • 0032563280 scopus 로고    scopus 로고
    • Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel
    • DOI 10.1016/S0014-5793(98)00814-X, PII S001457939800814X
    • Zerr, P., Adelman, J. P. and Maylie, J. (1998a). Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel. FEBS Lett. 431, 461-464. (Pubitemid 28352411)
    • (1998) FEBS Letters , vol.431 , Issue.3 , pp. 461-464
    • Zerr, P.1    Adelman, J.P.2    Maylie, J.3
  • 37
    • 0032523120 scopus 로고    scopus 로고
    • Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency
    • Zerr, P., Adelman, J. P. and Maylie, J. (1998b). Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency. J. Neurosci. 18, 2842-2848. (Pubitemid 28163214)
    • (1998) Journal of Neuroscience , vol.18 , Issue.8 , pp. 2842-2848
    • Zerr, P.1    Adelman, J.P.2    Maylie, J.3
  • 38
    • 34249082115 scopus 로고    scopus 로고
    • Kv1 potassium channel C-terminus constant HRETE region: Arginine substitution affects surface protein level and conductance level of subfamily members differentially
    • DOI 10.1080/09687860601066309, PII 778945486
    • Zhu, J., Gomez, B., Watanabe, I. and Thornhill, W. B. (2007). Kv1 potassium channel C-terminus constant HRETE region: arginine substitution affects surface protein level and conductance level of subfamily members differentially. Mol. Membr. Biol. 24, 194-205. (Pubitemid 46801856)
    • (2007) Molecular Membrane Biology , vol.24 , Issue.3 , pp. 194-205
    • Zhu, J.1    Gomez, B.2    Watanabe, I.3    Thornhill, W.B.4
  • 39
    • 0032895470 scopus 로고    scopus 로고
    • A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
    • DOI 10.1093/brain/122.5.817
    • Zuberi, S. M., Eunson, L. H., Spauschus, A., De Silva, R., Tolmie, J., Wood, N. W., McWilliam, R. C., Stephenson, J. B., Stephenson, J. P., Kullmann, D. M. et al. (1999). A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 122, 817-825. (Pubitemid 29219257)
    • (1999) Brain , vol.122 , Issue.5 , pp. 817-825
    • Zuberi, S.M.1    Eunson, L.H.2    Spauschus, A.3    De Silva, R.4    Tolmie, J.5    Wood, N.W.6    McWilliam, R.C.7    Stephenson, J.P.B.8    Kullmann, D.M.9    Hanna, M.G.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.