The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy

No abstract is available for this paper.

• Publication year

  2015

• Venue

  Neuromolecular medicine

• Publication date

  2015-03-20

• Fields of study

  Biology, Medicine, Chemistry

• Identifiers
  DOI 10.1007/s12017-015-8347-9PMID 25791876
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Regulating excitability of peripheral afferents: emerging ion channel targets

  2014cited by this paper
• Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.

  2014cited by this paper
• Multiple roles for NaV1.9 in the activation of visceral afferents by noxious inflammatory, mechanical, and human disease–derived stimuli

  2014cited by this paper
• Small-Fiber Neuropathy Nav1.8 Mutation Shifts Activation to Hyperpolarized Potentials and Increases Excitability of Dorsal Root Ganglion Neurons

  2013cited by this paper
• A de novo gain-of-function mutation in SCN11A causes loss of pain perception

  2013cited by this paper
• De novo mutations in epileptic encephalopathies

  2013cited by this paper
• The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability

  2013cited by this paper
• The response of Na(V)1.3 sodium channels to ramp stimuli: multiple components and mechanisms.

  2013cited by this paper
• De novo mutations in the classic epileptic encephalopathies

  2013cited by this paper
• Gain-of-function mutations in SCN11A cause familial episodic pain.

  2013cited by this paper
• Increased expression of tetrodotoxin-resistant sodium channels Nav1.8 and Nav1.9 within dorsal root ganglia in a rat model of bone cancer pain.

  2012cited by this paper
• Gain-of-function Nav1.8 mutations in painful neuropathy

  2012cited by this paper
• Crystal structure of an orthologue of the NaChBac voltage-gated sodium channel

  2012cited by this paper
• Crystal structure of a voltage-gated sodium channel in two potentially inactivated states

  2012cited by this paper
• The NaV1.7 sodium channel: from molecule to man

  2012cited by this paper
• Small fibre neuropathy.

  2012cited by this paper
• Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.

  2012cited by this paper
• Small-fibre neuropathies—advances in diagnosis, pathophysiology and management

  2012cited by this paper
• Nav1.7-related small fiber neuropathy

  2012cited by this paper
• Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy

  2012cited by this paper
• Genotype–phenotype associations in SCN1A-related epilepsies

  2011cited by this paper
• THE CRYSTAL STRUCTURE OF A VOLTAGE-GATED SODIUM CHANNEL

  2011cited by this paper
• Nav1.9 Channel Contributes to Mechanical and Heat Pain Hypersensitivity Induced by Subacute and Chronic Inflammation

  2011cited by this paper
• Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals

  2010cited by this paper
• Transfection of rat or mouse neurons by biolistics or electroporation

  2009cited by this paper
• GTP up‐regulated persistent Na+ current and enhanced nociceptor excitability require NaV1.9

  2008cited by this paper
• Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders.

  2007cited by this paper
• The Voltage-Gated Sodium Channel Nav1.9 Is an Effector of Peripheral Inflammatory Pain Hypersensitivity

  2006cited by this paper
• A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons.

  2006cited by this paper
• Sporadic onset of erythermalgia: A gain‐of‐function mutation in Nav1.7

  2006cited by this paper
• Contribution of the tetrodotoxin-resistant voltage-gated sodium channel NaV1.9 to sensory transmission and nociceptive behavior.

  2005cited by this paper
• Genetic analysis of Brugada syndrome in Western Japan: two novel mutations.

  2004cited by this paper
• Electrophysiological Properties of Mutant Nav1.7 Sodium Channels in a Painful Inherited Neuropathy

  2004cited by this paper
• Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

  2004cited by this paper
• Selective Expression of a Persistent Tetrodotoxin-Resistant Na+ Current and NaV1.9 Subunit in Myenteric Sensory Neurons

  2003cited by this paper
• NaN/Nav1.9: a sodium channel with unique properties.

  2002cited by this paper
• Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5

  2002cited by this paper
• An expanding view for the molecular basis of familial periodic paralysis.

  2002cited by this paper
• Localization of the tetrodotoxin‐resistant sodium channel NaN in nociceptors

  2000cited by this paper
• Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN.

  1999cited by this paper
• A Novel Persistent Tetrodotoxin-Resistant Sodium Current In SNS-Null And Wild-Type Small Primary Sensory Neurons

  1999cited by this paper
• Two tetrodotoxin‐resistant sodium channels in human dorsal root ganglion neurons

  1999cited by this paper
• A Critical Role for the S4-S5 Intracellular Loop in Domain IV of the Sodium Channel α-Subunit in Fast Inactivation*

  1998cited by this paper
• Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line

  1998cited by this paper
• NaN, a novel voltage-gated Na channel, is expressed preferentially in peripheral sensory neurons and down-regulated after axotomy.

  1998cited by this paper
• Interaction between the sodium channel inactivation linker and domain III S4-S5.

  1997cited by this paper
• Role in fast inactivation of the IV/S4–S5 loop of the human muscle Na+ channel probed by cysteine mutagenesis

  1997cited by this paper

• Shaping the Action Potential in Dorsal Root and Trigeminal Ganglia Neurons: Relevance to Pain Mechanisms

  2026cites this paper
• Role of mutation G255A in modulating pyrethroid sensitivity in insect sodium channels.

  2025cites this paper
• Voltage-gated sodium channels (NaV) in GtoPdb v.2025.3

  2025cites this paper
• Nociceptor sodium channels shape subthreshold phase, upstroke, and shoulder of action potentials

  2025cites this paper
• Mitochondrial activity tunes nociceptor resilience to excitotoxicity.

  2025cites this paper
• Neuronal physiology of amygdala neurons in the context of injury and pain

  2025cites this paper
• In Vivo Confocal Microscopy of the Cornea in Diagnosing Small Fibre Neuropathy: A Cross-Sectional Observational Study

  2025cites this paper
• Human pain channelopathies.

  2024cites this paper
• Unique electrophysiological property of a novel Nav1.7, Nav1.8, and Nav1.9 sodium channel blocker, ANP-230.

  2024cites this paper
• Species-specific differences and the role of Nav1.9 in pain pathophysiology.

  2024cites this paper
• Ion channels of cold transduction and transmission

  2024cites this paper
• Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies

  2023cites this paper
• Reduced pain sensitivity of episodic pain syndrome model mice carrying a Nav1.9 mutation by ANP-230, a novel sodium channel blocker

  2023cites this paper
• Machine learning study of the extended drug-target interaction network informed by pain related voltage-gated sodium channels.

  2023cites this paper
• Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels

  2023cites this paper
• Machine Learning Study of the Extended Drug-target Interaction Network informed by Pain Related Voltage-Gated Sodium Channels

  2023cites this paper
• The influence of Nav1.9 channels on intestinal hyperpathia and dysmotility

  2023cites this paper
• Voltage-gated sodium channels (NaV) in GtoPdb v.2023.1

  2023cites this paper
• Understanding the physiological role of NaV1.9: Challenges and opportunities for pain modulation.

  2023cites this paper
• Inhibition of the human neuronal sodium channel Nav1.9 by ACEA (arachidonyl-2-chloroethylamide), an analogue of anandamide in a hNav1.9/rNav1.4 chimera, an experimental and in silico study.

  2022cites this paper
• Gene variant effects across sodium channelopathies predict function and guide precision therapy

  2022cites this paper
• Pathological changes of the sural nerve in patients with familial episodic pain syndrome

  2022cites this paper
• The challenge of differentiating fibromyalgia from small-fiber neuropathy in clinical practice.

  2021cites this paper
• Ciguatera Mini Review: 21st Century Environmental Challenges and the Interdisciplinary Research Efforts Rising to Meet Them

  2021cites this paper
• Genetic aspects of pain and its variability in the human population.

  2021cites this paper
• Genomics of Pain and Co-Morbid Symptoms

  2020cites this paper
• Sodium Channels

  2020cites this paper
• Genomics of Neuropathic Pain

  2020cites this paper
• Mechanical allodynia triggered by cold exposure in mice with the Scn11a p.R222S mutation: a novel model of drug therapy for neuropathic pain related to NaV1.9

  2020cites this paper
• Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

  2020cites this paper
• Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels

  2020cites this paper
• Alcohol-aggravated episodic pain in humans with SCN11A mutation and ALDH2 polymorphism.

  2020cites this paper
• A zebrafish model of small-fiber neuropathy

  2019cites this paper
• Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small‐fiber neuropathy

  2019cites this paper
• The Role of Voltage-Gated Sodium Channels in Pain Signaling.

  2019cites this paper
• Sodium Channels in Human Pain Disorders: Genetics and Pharmacogenomics.

  2019cites this paper
• A gain-of-function sodium channel β2-subunit mutation in painful diabetic neuropathy

  2019cites this paper
• Psychophysics: Quantitative Sensory Testing in the Diagnostic Work-Up of Small Fiber Neuropathy

  2019cites this paper
• Title Familial episodic limb pain in kindreds with novel Nav 1 . 9 mutations

  2019cites this paper
• A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain

  2019cites this paper
• Spider Knottin Pharmacology at Voltage-Gated Sodium Channels and Their Potential to Modulate Pain Pathways

  2019cites this paper
• A 49-residue sequence motif in the C terminus of Nav1.9 regulates trafficking of the channel to the plasma membrane

  2019cites this paper
• Identification and characterisation of sodium channel Nav1.7 protein-protein interactions using an epitope-tagged gene-targeted mouse

  2019cites this paper
• Voltage-gated sodium channels (version 2019.4) in the IUPHAR/BPS Guide to Pharmacology Database

  2019cites this paper
• Familial episodic limb pain in kindreds with novel Nav1.9 mutations

  2018cites this paper
• SFN-SIQ, SFNSL and skin biopsy of 55 cases with small fibre involvement

  2018cites this paper
• NaV1.9 Potentiates Oxidized Phospholipid-Induced TRP Responses Only under Inflammatory Conditions

  2018cites this paper
• A novel gain-of-function Nav1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy

  2018cites this paper
• Contribution of axonal transport disruption to the development of neuropathic pain

  2018cites this paper
• The NaV1.7 Channel Subtype as an Antinociceptive Target for Spider Toxins in Adult Dorsal Root Ganglia Neurons

  2018cites this paper
• Yield of peripheral sodium channels gene screening in pure small fibre neuropathy

  2018cites this paper
• Voltage‐gated sodium channels: (NaV)igating the field to determine their contribution to visceral nociception

  2018cites this paper
• A single Markov-type kinetic model accounting for the macroscopic currents of all human voltage-gated sodium channel isoforms

  2017cites this paper
• Genetic studies of human neuropathic pain conditions: a review

  2017cites this paper
• Small fibre neuropathy

  2017cites this paper
• Selective Voltage-Gated Sodium Channel Peptide Toxins from Animal Venom: Pharmacological Probes and Analgesic Drug Development.

  2017cites this paper
• Structure-based assessment of disease-related mutations in human voltage-gated sodium channels

  2017cites this paper
• Loss of Nav b 4-Mediated Regulation of Sodium Currents in Adult Purkinje Neurons Disrupts Firing and Impairs Motor Coordination and Balance Graphical Abstract Highlights

  2017influential citation
• The diagnostic challenge of small fibre neuropathy: clinical presentations, evaluations, and causes.

  2017cites this paper
• Gain-of-function mutation of a voltage-gated sodium channel NaV1.7 associated with peripheral pain and impaired limb development

  2017cites this paper
• Loss of Navβ4-Mediated Regulation of Sodium Currents in Adult Purkinje Neurons Disrupts Firing and Impairs Motor Coordination and Balance.

  2017cites this paper
• SCN11A variants may influence postoperative pain sensitivity after gynecological surgery in Chinese Han female patients

  2017cites this paper
• Sodium channels in pain disorders: pathophysiology and prospects for treatment

  2017cites this paper
• Electrophysiological and Pharmacological Analyses of Nav1.9 Voltage-Gated Sodium Channel by Establishing a Heterologous Expression System

  2017cites this paper
• Loss of Navβ4-Mediated Regulation of Sodium Currents in Adult Purkinje Neurons Disrupts Firing and Impairs Motor Coordination and Balance.

  2017influential citation
• Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability

  2017cites this paper
• Pain transduction: a pharmacologic perspective

  2016cites this paper
• A painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels

  2016cites this paper
• Genetic predictors of human chronic pain conditions.

  2016cites this paper
• Nav1.7 and other voltage-gated sodium channels as drug targets for pain relief

  2016cites this paper
• Canaux sodiques et canalopathies : douleurs neuropathiques, épilepsies, migraine

  2016cites this paper
• Sodium Channels, Mitochondria, and Axonal Degeneration in Peripheral Neuropathy.

  2016cites this paper
• Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli

  2016cites this paper
• Physiology and Pathophysiology of Sodium Channel Inactivation.

  2016cites this paper
• Pathological nociceptors in two patients with erythromelalgia‐like symptoms and rare genetic Nav 1.9 variants

  2016influential citation
• The CRISPR/Cas9 system for gene editing and its potential application in pain research.

  2016cites this paper
• The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Nav1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia

  2016cites this paper
• Novel sodium channel antagonists in the treatment of neuropathic pain

  2016cites this paper
• Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families

  2016cites this paper
• Voltage-gated sodium channels and pain-related disorders.

  2016cites this paper
• P2Y Receptors Sensitize Mouse and Human Colonic Nociceptors

  2016cites this paper
• Familial gain-of-function Nav1.9 mutation in a painful channelopathy

  2016cites this paper
• NaV1.9: a sodium channel linked to human pain

  2015cites this paper
• Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

  2015cites this paper
• Adding Comments and Notes to Your PDF

  2013cites this paper
• Becker Digital Commons

  year unknowncites this paper