(Q24678177)

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Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans

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Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans (English)

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paramyotonia congenita

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based on heuristic

inferred from title

Damien Sternberg

2

object named as

Damien Sternberg

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author name string

Magali Bouhours

1

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Claire-Sophie Davoine

3

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Xavier Ferrer

4

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Jean Claude Willer

5

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Bertrand Fontaine

6

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Nacira Tabti

7

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language of work or name

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publication date

1 February 2004

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Journal of Physiology

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554

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Pt 3

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635-47

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Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

7 April 2017

From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

7 April 2017

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

7 April 2017

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

7 April 2017

Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

7 April 2017

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

7 April 2017

Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Outer and central charged residues in DIVS4 of skeletal muscle sodium channels have differing roles in deactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Slow inactivation does not affect movement of the fast inactivation gate in voltage-gated Na+ channels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Molecular analysis of the putative inactivation particle in the inactivation gate of brain type IIA Na+ channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Interaction between fast and slow inactivation in Skm1 sodium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Impaired slow inactivation in mutant sodium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Molecular pathophysiology of voltage-gated ion channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

A molecular link between activation and inactivation of sodium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Genes with triplet repeats: a new class of mutations causing neurological diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Inactivation viewed through single sodium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Molecular kinetics of voltage-dependent Na+ channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Restoration of inactivation and block of open sodium channels by an inactivation gate peptide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 September 2017

The delay in recovery from fast inactivation in skeletal muscle sodium channels is deactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

30 May 2018

Protein components of the purified sodium channel from rat skeletal muscle sarcolemma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

30 May 2018

Sodium channel gating in clonal pituitary cells. The inactivation step is not voltage dependent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

30 May 2018

Inactivation of the sodium channel. II. Gating current experiments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

30 May 2018

Slow inactivation of the sodium conductance in squid giant axons. Pronase resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

30 May 2018

Differential effects of homologous S4 mutations in human skeletal muscle sodium channels on deactivation gating from open and inactivated states

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2003.053082

21 January 2018

Negative charges in the DIII-DIV linker of human skeletal muscle Na+ channels regulate deactivation gating

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2003.053082

21 January 2018

Na+ channels must deactivate to recover from inactivation

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2003.053082

21 January 2018

Membrane defects in paramyotonia congenita with and without myotonia in a warm environment.

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2003.053082

21 January 2018

The familial periodic paralyses and nondystrophic myotonias

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2003.053082

21 January 2018

Human Na+ channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes.

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2003.053082

21 January 2018

Resurgent sodium current and action potential formation in dissociated cerebellar Purkinje neurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1664790

28 November 2018

Inactivation of Open and Closed Sodium Channels Determined Separately

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2003.053082

21 January 2018

Voltage clamp of rat and human skeletal muscle: measurements with an improved loose-patch technique

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2003.053082

21 January 2018

Slow changes in membrane permeability and long-lasting action potentials in axons perfused with fluoride solutions

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2003.053082

21 January 2018

A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2003.053082

21 January 2018

Defective slow inactivation of sodium channels contributes to familial periodic paralysis

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2003.053082

21 January 2018

Detecting sequence changes in a gene

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2003.053082

21 January 2018

Slow sodium channel inactivation in mammalian muscle: a possible role in regulating excitability

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2003.053082

21 January 2018

Effects of temperature on slow and fast inactivation of rat skeletal muscle Na(+) channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/14617673

12 December 2020

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10.1113/JPHYSIOL.2003.053082

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