Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating (Q34569783)

3 August 2017

Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating (English)

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3 August 2017

Angelika Lampert

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3 August 2017

Sulayman D Dib-Hajj

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2

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3 August 2017

Lynda Tyrrell

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3

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3 August 2017

Stephen G Waxman

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4

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3 August 2017

language of work or name

English

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publication date

28 September 2006

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Journal of Biological Chemistry

3 August 2017

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3 August 2017

281

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3 August 2017

47

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3 August 2017

36029-36035

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Sodium channel mutations in epilepsy and other neurological disorders

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Human skeletal muscle sodium channelopathies

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Erythermalgia: molecular basis for an inherited pain syndrome

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Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

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SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels

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Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.

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Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

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Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

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Sodium channel alpha-subunit mRNAs I, II, III, NaG, Na6 and hNE (PN1): different expression patterns in developing rat nervous system.

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Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons

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A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia.

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Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

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A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons

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Distinct repriming and closed-state inactivation kinetics of Nav1.6 and Nav1.7 sodium channels in mouse spinal sensory neurons

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Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

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Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis

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Myasthenic syndrome caused by mutation of the SCN4A sodium channel

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A mutation that causes ataxia shifts the voltage-dependence of the Scn8a sodium channel

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Substitution of a conserved alanine in the domain IIIS4-S5 linker of the cardiac sodium channel causes long QT syndrome

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Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5

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Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis

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Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant

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Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita

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Cooperative effect of S4-S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel

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Interaction between the sodium channel inactivation linker and domain III S4-S5.

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Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma

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Interactions between S4-S5 linker and S6 transmembrane domain modulate gating of HERG K+ channels

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The S4-S5 linker couples voltage sensing and activation of pacemaker channels.

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Crystal structure of a mammalian voltage-dependent Shaker family K+ channel

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Voltage sensor of Kv1.2: structural basis of electromechanical coupling

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Electron microscopic analysis of KvAP voltage-dependent K+ channels in an open conformation

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X-ray structure of a voltage-dependent K+ channel

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The principle of gating charge movement in a voltage-dependent K+ channel

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Structural biology. Voltage sensor meets lipid membrane

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Molecular architecture of the KvAP voltage-dependent K+ channel in a lipid bilayer

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The voltage-sensor structure in a voltage-gated channel

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The voltage-sensitive sodium channel is a bell-shaped molecule with several cavities

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The S4-S5 linker directly couples voltage sensor movement to the activation gate in the human ether-a'-go-go-related gene (hERG) K+ channel.

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Voltage sensor conformations in the open and closed states in ROSETTA structural models of K(+) channels

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Modelling insecticide-binding sites in the voltage-gated sodium channel.

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Role of an S4-S5 linker in sodium channel inactivation probed by mutagenesis and a peptide blocker

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Role in fast inactivation of the IV/S4-S5 loop of the human muscle Na+ channel probed by cysteine mutagenesis

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Inactivation and secondary structure in the D4/S4-5 region of the SkM1 sodium channel

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A critical role for the S4-S5 intracellular loop in domain IV of the sodium channel alpha-subunit in fast inactivation

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A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation

21 January 2018

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Primary structure and functional expression of a mammalian skeletal muscle sodium channel

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Regulation of muscle sodium channel transcripts during development and in response to denervation

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21 January 2018

Identifiers

DOI

10.1074/JBC.M607637200

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3 August 2017

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