Alternative splicing of Na(V)1.7 exon 5 increases the impact of the painful PEPD mutant channel I1461T. (Q33796526)

29 July 2017

title

Alternative splicing of Na(V)1.7 exon 5 increases the impact of the painful PEPD mutant channel I1461T. (English)

1 reference

alternative mRNA splicing, via spliceosome

29 July 2017

main subject

1 reference

paroxysmal extreme pain disorder

inferred from title

1 reference

Brian W Jarecki

1

1 reference

29 July 2017

Patrick L Sheets

2

1 reference

29 July 2017

Yucheng Xiao

3

1 reference

29 July 2017

James O Jackson

4

1 reference

29 July 2017

Theodore R Cummins

5

1 reference

29 July 2017

publication date

23 July 2009

1 reference

29 July 2017

1 reference

29 July 2017

volume

3

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29 July 2017

issue

4

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29 July 2017

page(s)

259-267

1 reference

Inherited neuronal ion channelopathies: new windows on complex neurological diseases

29 July 2017

cites work

1 reference

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Alternative splicing within the I-II loop controls surface expression of T-type Ca(v)3.1 calcium channels

4 July 2018

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A catalog of SCN1A variants

4 July 2018

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Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable

4 July 2018

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Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation

4 July 2018

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4 July 2018

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4 July 2018

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4 July 2018

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Differential splicing patterns of L-type calcium channel Cav1.2 subunit in hearts of Spontaneously Hypertensive Rats and Wistar Kyoto Rats

4 July 2018

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4 July 2018

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4 July 2018

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4 July 2018

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4 July 2018

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4 July 2018

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4 July 2018

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4 July 2018

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4 July 2018

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Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC)

4 July 2018

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4 July 2018

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

4 July 2018

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

4 July 2018

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4 July 2018

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

4 July 2018

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Smooth muscle-selective alternatively spliced exon generates functional variation in Cav1.2 calcium channels

4 July 2018

1 reference

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Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia

4 July 2018

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4 July 2018

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

4 July 2018

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4 July 2018

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4 July 2018

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4 July 2018

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Alternative splicing of an insect sodium channel gene generates pharmacologically distinct sodium channels

4 July 2018

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4 July 2018

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4 July 2018

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4 July 2018

1 reference

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Deletion of the S3-S4 linker in the Shaker potassium channel reveals two quenching groups near the outside of S4

4 July 2018

1 reference

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Voltage sensors in domains III and IV, but not I and II, are immobilized by Na+ channel fast inactivation

4 July 2018

1 reference

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Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A

4 July 2018

1 reference

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Slow closed-state inactivation: a novel mechanism underlying ramp currents in cells expressing the hNE/PN1 sodium channel.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

Structural implications of fluorescence quenching in the Shaker K+ channel

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

Functional analysis of a voltage-gated sodium channel and its splice variant from rat dorsal root ganglia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

4 July 2018

1 reference

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Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells

4 July 2018

1 reference

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Some kinetic and steady-state properties of sodium channels after removal of inactivation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

4 July 2018

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A quantitative description of membrane current and its application to conduction and excitation in nerve. 1952.

4 July 2018

1 reference

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Alteration of voltage-dependence of Shaker potassium channel by mutations in the S4 sequence

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs

4 July 2018

1 reference

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Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

Ca(V)2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: implications for calcium channelopathies.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

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.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

A smooth muscle Cav1.2 calcium channel splice variant underlies hyperpolarized window current and enhanced state-dependent inhibition by nifedipine

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

Roles of alternative splicing in the functional properties of inner ear-specific KCNQ4 channels

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

Expression and functional characterization of the human ether-à-go-go-related gene (HERG) K+ channel cardiac splice variant in Xenopus laevis oocytes.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

Calibrated measurement of gating-charge arginine displacement in the KvAP voltage-dependent K+ channel

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

A mutant KcsA K(+) channel with altered conduction properties and selectivity filter ion distribution

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

A fluorometric approach to local electric field measurements in a voltage-gated ion channel

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

Molecular determinants of emerging excitability in rat embryonic motoneurons.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

Transmembrane movement of the shaker K+ channel S4.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

Na+ channels must deactivate to recover from inactivation

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2856339

Evidence for voltage-dependent S4 movement in sodium channels

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19633428

12 December 2020

inferred from PubMed ID database lookup

Alternative splicing of the Ca(v)1.3 channel IQ domain, a molecular switch for Ca2+-dependent inactivation within auditory hair cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19633428

12 December 2020

inferred from PubMed ID database lookup

Structural parts involved in activation and inactivation of the sodium channel

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19633428

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.4161/CHAN.3.4.9341

1 reference

29 July 2017

1 reference

29 July 2017

1 reference