(Q35063865)

6 August 2017

title

Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective? (English)

1 reference

6 August 2017

Subrata Biswas

1

1 reference

6 August 2017

Deborah A DiSilvestre

series ordinal

2

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6 August 2017

Peihong Dong

series ordinal

3

1 reference

6 August 2017

Gordon F Tomaselli

series ordinal

4

1 reference

6 August 2017

language of work or name

English

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publication date

6 December 2013

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6 August 2017

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6 August 2017

volume

8

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6 August 2017

issue

12

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6 August 2017

page(s)

e81063

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Creative Commons Attribution 3.0 Unported

6 August 2017

copyright license

start time

6 December 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Crystal Structure of the Ternary Complex of a NaV C-Terminal Domain, a Fibroblast Growth Factor Homologous Factor, and Calmodulin

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Calmodulin and calcium differentially regulate the neuronal Nav1.1 voltage-dependent sodium channel

8 July 2018

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A double tyrosine motif in the cardiac sodium channel domain III-IV linker couples calcium-dependent calmodulin binding to inactivation gating

8 July 2018

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New mutation of the Na channel in the severe form of potassium-aggravated myotonia.

8 July 2018

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8 July 2018

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Functional Interactions between Distinct Sodium Channel Cytoplasmic Domains through the Action of Calmodulin

8 July 2018

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8 July 2018

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Solution NMR structure of the C-terminal EF-hand domain of human cardiac sodium channel NaV1.5

8 July 2018

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8 July 2018

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8 July 2018

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A carboxyl-terminal hydrophobic interface is critical to sodium channel function. Relevance to inherited disorders.

8 July 2018

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Calcium-dependent regulation of the voltage-gated sodium channel hH1: intrinsic and extrinsic sensors use a common molecular switch

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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Isoform-specific modulation of voltage-gated Na(+) channels by calmodulin.

8 July 2018

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A calcium sensor in the sodium channel modulates cardiac excitability

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855693

Role of the C-terminal domain in inactivation of brain and cardiac sodium channels

8 July 2018

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8 July 2018

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Mutant channels contribute <50% to Na+ current in paramyotonia congenita muscle

8 July 2018

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Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.

8 July 2018

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Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line

8 July 2018

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A novel SCN4A mutation causing myotonia aggravated by cold and potassium

8 July 2018

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8 July 2018

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8 July 2018

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A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.

8 July 2018

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Modulation of skeletal and cardiac voltage-gated sodium channels by calmodulin.

21 January 2018

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Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.

21 January 2018

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

21 January 2018

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Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0081063

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

21 January 2018

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12 December 2020

Secondary structure of the human cardiac Na+ channel C terminus: evidence for a role of helical structures in modulation of channel inactivation

1 reference

12 December 2020

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

1 reference

12 December 2020

A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene

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12 December 2020

Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0081063

Identifiers

DOI

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6 August 2017

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6 August 2017

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