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Volumn 290, Issue 10, 2015, Pages 6316-6325

Erythromelalgia mutation Q875E stabilizes the activated state of sodium channel Nav1.7

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Indexed keywords

COVALENT BONDS;

EID: 84924871549     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M114.605899     Document Type: Article
Times cited : (21)

References (39)
  • 5
    • 20544476041 scopus 로고    scopus 로고
    • SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels
    • Drenth, J. P., te Morsche, R. H., Guillet, G., Taieb, A., Kirby, R. L., and Jansen, J. B. (2005) SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. J. Invest. Dermatol. 124, 1333-1338
    • (2005) J. Invest. Dermatol. , vol.124 , pp. 1333-1338
    • Drenth, J.P.1    Te Morsche, R.H.2    Guillet, G.3    Taieb, A.4    Kirby, R.L.5    Jansen, J.B.6
  • 7
    • 84903906262 scopus 로고    scopus 로고
    • Altered sodium channel gating as molecular basis for pain: Contribution of activation, inactivation, and resurgent currents
    • Lampert, A., Eberhardt, M., and Waxman, S. G. (2014) Altered sodium channel gating as molecular basis for pain: contribution of activation, inactivation, and resurgent currents. Handb. Exp. Pharmacol. 221, 91-110
    • (2014) Handb. Exp. Pharmacol. , vol.221 , pp. 91-110
    • Lampert, A.1    Eberhardt, M.2    Waxman, S.G.3
  • 8
    • 29844438166 scopus 로고    scopus 로고
    • International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels
    • Catterall, W. A., Goldin, A. L., and Waxman, S. G. (2005) International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. Pharmacol. Rev. 57, 397-409
    • (2005) Pharmacol. Rev. , vol.57 , pp. 397-409
    • Catterall, W.A.1    Goldin, A.L.2    Waxman, S.G.3
  • 9
    • 77956996917 scopus 로고    scopus 로고
    • Ion channel voltage sensors: Structure, function, and pathophysiology
    • Catterall, W. A. (2010) Ion channel voltage sensors: structure, function, and pathophysiology. Neuron 67, 915-928
    • (2010) Neuron , vol.67 , pp. 915-928
    • Catterall, W.A.1
  • 11
    • 79960621367 scopus 로고    scopus 로고
    • The crystal structure of a voltage-gated sodium channel
    • Payandeh, J., Scheuer, T., Zheng, N., and Catterall, W. A. (2011) The crystal structure of a voltage-gated sodium channel. Nature 475, 353-358
    • (2011) Nature , vol.475 , pp. 353-358
    • Payandeh, J.1    Scheuer, T.2    Zheng, N.3    Catterall, W.A.4
  • 12
    • 54449100445 scopus 로고    scopus 로고
    • Disulfide locking a sodium channel voltage sensor reveals ion pair formation during activation
    • DeCaen, P. G., Yarov-Yarovoy, V., Zhao, Y., Scheuer, T., and Catterall, W. A. (2008) Disulfide locking a sodium channel voltage sensor reveals ion pair formation during activation. Proc. Natl. Acad. Sci. U.S.A. 105, 15142-15147
    • (2008) Proc. Natl. Acad. Sci. U.S.A. , vol.105 , pp. 15142-15147
    • DeCaen, P.G.1    Yarov-Yarovoy, V.2    Zhao, Y.3    Scheuer, T.4    Catterall, W.A.5
  • 16
    • 78650049168 scopus 로고    scopus 로고
    • Position and motions of the S4 helix during opening of the Shaker potassium channel
    • Phillips, L. R., and Swartz, K. J. (2010) Position and motions of the S4 helix during opening of the Shaker potassium channel. J. Gen. Physiol. 136, 629-644
    • (2010) J. Gen. Physiol. , vol.136 , pp. 629-644
    • Phillips, L.R.1    Swartz, K.J.2
  • 17
    • 23444443202 scopus 로고    scopus 로고
    • Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons
    • Dib-Hajj, S. D., Rush, A. M., Cummins, T. R., Hisama, F. M., Novella, S., Tyrrell, L., Marshall, L., and Waxman, S. G. (2005) Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. Brain 128, 1847-1854
    • (2005) Brain , vol.128 , pp. 1847-1854
    • Dib-Hajj, S.D.1    Rush, A.M.2    Cummins, T.R.3    Hisama, F.M.4    Novella, S.5    Tyrrell, L.6    Marshall, L.7    Waxman, S.G.8
  • 18
    • 70350125876 scopus 로고    scopus 로고
    • Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials
    • Lampert, A., Dib-Hajj, S. D., Eastman, E. M., Tyrrell, L., Lin, Z., Yang, Y., and Waxman, S. G. (2009) Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials. Biochem. Biophys. Res. Commun. 390, 319-324
    • (2009) Biochem. Biophys. Res. Commun. , vol.390 , pp. 319-324
    • Lampert, A.1    Dib-Hajj, S.D.2    Eastman, E.M.3    Tyrrell, L.4    Lin, Z.5    Yang, Y.6    Waxman, S.G.7
  • 19
    • 53049098906 scopus 로고    scopus 로고
    • Apore-blocking hydrophobic motif at the cytoplasmic aperture of the closed-state Nav1.7 channel is disrupted by the erythromelalgia- associated F1449V mutation
    • Lampert, A., O'Reilly, A. O., Dib-Hajj, S. D., Tyrrell, L., Wallace, B. A., and Waxman, S. G. (2008)Apore-blocking hydrophobic motif at the cytoplasmic aperture of the closed-state Nav1.7 channel is disrupted by the erythromelalgia- associated F1449V mutation. J. Biol. Chem. 283, 24118-24127
    • (2008) J. Biol. Chem. , vol.283 , pp. 24118-24127
    • Lampert, A.1    O'Reilly, A.O.2    Dib-Hajj, S.D.3    Tyrrell, L.4    Wallace, B.A.5    Waxman, S.G.6
  • 20
    • 84857613952 scopus 로고    scopus 로고
    • Severe case and literature review of primary erythromelalgia: Novel SCN9A gene mutation
    • Skeik, N., Rooke, T. W., Davis, M. D., Davis, D. M., Kalsi, H., Kurth, I., and Richardson, R. C. (2012) Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation. Vasc. Med. 17, 44-49
    • (2012) Vasc. Med. , vol.17 , pp. 44-49
    • Skeik, N.1    Rooke, T.W.2    Davis, M.D.3    Davis, D.M.4    Kalsi, H.5    Kurth, I.6    Richardson, R.C.7
  • 21
    • 0028985863 scopus 로고
    • Structure and functional expression of a new member of the tetrodotoxinsensitive voltage-activated sodium channel family from human neuroendocrine cells
    • Klugbauer, N., Lacinova, L., Flockerzi, V., and Hofmann, F. (1995) Structure and functional expression of a new member of the tetrodotoxinsensitive voltage-activated sodium channel family from human neuroendocrine cells. EMBO J. 14, 1084-1090
    • (1995) EMBO J. , vol.14 , pp. 1084-1090
    • Klugbauer, N.1    Lacinova, L.2    Flockerzi, V.3    Hofmann, F.4
  • 24
    • 34548232365 scopus 로고    scopus 로고
    • Inference of macromolecular assemblies from crystalline state
    • Krissinel, E., and Henrick, K. (2007) Inference of macromolecular assemblies from crystalline state. J. Mol. Biol. 372, 774-797
    • (2007) J. Mol. Biol. , vol.372 , pp. 774-797
    • Krissinel, E.1    Henrick, K.2
  • 25
    • 83355177269 scopus 로고    scopus 로고
    • In search of a consensus model of the resting state of a voltage-sensing domain
    • Vargas, E., Bezanilla, F., and Roux, B. (2011) In search of a consensus model of the resting state of a voltage-sensing domain. Neuron 72, 713-720
    • (2011) Neuron , vol.72 , pp. 713-720
    • Vargas, E.1    Bezanilla, F.2    Roux, B.3
  • 26
    • 72749122226 scopus 로고    scopus 로고
    • Human embryonic kidney (HEK293) cells express endogenous voltage-gated sodium currents and Nav1.7 sodium channels
    • He, B., and Soderlund, D. M. (2010) Human embryonic kidney (HEK293) cells express endogenous voltage-gated sodium currents and Nav1.7 sodium channels. Neurosci. Lett. 469, 268-272
    • (2010) Neurosci. Lett. , vol.469 , pp. 268-272
    • He, B.1    Soderlund, D.M.2
  • 27
    • 0024368695 scopus 로고
    • Structural parts involved in activation and inactivation of the sodium channel
    • Stühmer, W., Conti, F., Suzuki, H., Wang, X. D., Noda, M., Yahagi, N., Kubo, H., and Numa, S. (1989) Structural parts involved in activation and inactivation of the sodium channel. Nature 339, 597-603
    • (1989) Nature , vol.339 , pp. 597-603
    • Stühmer, W.1    Conti, F.2    Suzuki, H.3    Wang, X.D.4    Noda, M.5    Yahagi, N.6    Kubo, H.7    Numa, S.8
  • 28
    • 0030963793 scopus 로고    scopus 로고
    • Sodium channel activation gating is affected by substitutions of voltage sensor positive charges in all four domains
    • Kontis, K. J., Rounaghi, A., and Goldin, A. L. (1997) Sodium channel activation gating is affected by substitutions of voltage sensor positive charges in all four domains. J. Gen. Physiol. 110, 391-401
    • (1997) J. Gen. Physiol. , vol.110 , pp. 391-401
    • Kontis, K.J.1    Rounaghi, A.2    Goldin, A.L.3
  • 29
    • 84879782727 scopus 로고    scopus 로고
    • Painful Na-channelopathies: An expanding universe
    • Waxman, S. G. (2013) Painful Na-channelopathies: an expanding universe. Trends Mol. Med. 19, 406-409
    • (2013) Trends Mol. Med. , vol.19 , pp. 406-409
    • Waxman, S.G.1
  • 30
    • 34249980057 scopus 로고    scopus 로고
    • ANav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity
    • Sheets, P. L., Jackson, J. O., 2nd, Waxman, S. G., Dib-Hajj, S. D., and Cummins, T. R. (2007)ANav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity. J. Physiol. 581, 1019-1031
    • (2007) J. Physiol. , vol.581 , pp. 1019-1031
    • Sheets, P.L.1    Jackson, J.O.2    Waxman, S.G.3    Dib-Hajj, S.D.4    Cummins, T.R.5
  • 32
    • 33750976383 scopus 로고    scopus 로고
    • Inherited erythermalgia: Limb pain from an S4 charge-neutral Na channelopathy
    • Choi, J. S., Dib-Hajj, S. D., and Waxman, S. G. (2006) Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy. Neurology 67, 1563-1567
    • (2006) Neurology , vol.67 , pp. 1563-1567
    • Choi, J.S.1    Dib-Hajj, S.D.2    Waxman, S.G.3
  • 33
    • 40449087926 scopus 로고    scopus 로고
    • Mutation I136V alters electrophysiological properties of the Nav1.7 channel in a family with onset of erythromelalgia in the second decade
    • Cheng, X., Dib-Hajj, S. D., Tyrrell, L., and Waxman, S. G. (2008) Mutation I136V alters electrophysiological properties of the Nav1.7 channel in a family with onset of erythromelalgia in the second decade. Mol. Pain 4, 1
    • (2008) Mol. Pain , vol.4 , pp. 1
    • Cheng, X.1    Dib-Hajj, S.D.2    Tyrrell, L.3    Waxman, S.G.4
  • 34
    • 58149154859 scopus 로고    scopus 로고
    • Nav1.7 gain-of- function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders
    • Estacion, M., Dib-Hajj, S. D., Benke, P. J., Te Morsche, R. H., Eastman, E. M., Macala, L. J., Drenth, J. P., and Waxman, S. G. (2008) Nav1.7 gain-of- function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. J. Neurosci. 28, 11079-11088
    • (2008) J. Neurosci. , vol.28 , pp. 11079-11088
    • Estacion, M.1    Dib-Hajj, S.D.2    Benke, P.J.3    Te Morsche, R.H.4    Eastman, E.M.5    Macala, L.J.6    Drenth, J.P.7    Waxman, S.G.8
  • 36
    • 0032191111 scopus 로고    scopus 로고
    • Voltage sensor-trapping: Enhanced activation of sodium channels by β-scorpion toxin bound to the S3-S4 loop in domain II
    • Cestèle, S., Qu, Y., Rogers, J. C., Rochat, H., Scheuer, T., and Catterall, W. A. (1998) Voltage sensor-trapping: enhanced activation of sodium channels by β-scorpion toxin bound to the S3-S4 loop in domain II. Neuron 21, 919-931
    • (1998) Neuron , vol.21 , pp. 919-931
    • Cestèle, S.1    Qu, Y.2    Rogers, J.C.3    Rochat, H.4    Scheuer, T.5    Catterall, W.A.6
  • 38
    • 0030933457 scopus 로고    scopus 로고
    • Contribution of sialic acid to the voltage dependence of sodium channel gating. A possible electrostatic mechanism
    • Bennett, E., Urcan, M. S., Tinkle, S. S., Koszowski, A. G., and Levinson, S. R. (1997) Contribution of sialic acid to the voltage dependence of sodium channel gating. A possible electrostatic mechanism. J. Gen. Physiol. 109, 327-343
    • (1997) J. Gen. Physiol. , vol.109 , pp. 327-343
    • Bennett, E.1    Urcan, M.S.2    Tinkle, S.S.3    Koszowski, A.G.4    Levinson, S.R.5
  • 39
    • 0020665772 scopus 로고
    • Principal glycopeptide of the tetrodotoxin/saxitoxin binding protein from Electrophorus electricus: Isolation and partial chemical and physical characterization
    • Miller, J. A., Agnew, W. S., and Levinson, S. R. (1983) Principal glycopeptide of the tetrodotoxin/saxitoxin binding protein from Electrophorus electricus: isolation and partial chemical and physical characterization. Biochemistry 22, 462-470.
    • (1983) Biochemistry , vol.22 , pp. 462-470
    • Miller, J.A.1    Agnew, W.S.2    Levinson, S.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.