Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex (Q24308697)

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1902305

negative regulation of sodium ion transmembrane transport

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1902306

positive regulation of sodium ion transmembrane transport

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1902307

Sodium voltage-gated channel alpha subunit 5

1 reference

ATPase plasma membrane Ca2+ transporting 4

1 reference

Syntrophin alpha 1

1 reference

Syntrophin, acidic 1

1 reference

Sodium channel, voltage-gated, type V, alpha

1 reference

1 reference

1 reference

Argelia Medeiros-domingo

object named as

Argelia Medeiros-Domingo

3

0 references

Michael J Ackerman

7

object named as

Michael J Ackerman

0 references

author name string

Kazuo Ueda

1

0 references

Carmen Valdivia

2

0 references

David J Tester

4

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Matteo Vatta

5

0 references

Gianrico Farrugia

6

0 references

Jonathan C Makielski

Proceedings of the National Academy of Sciences of the United States of America

8

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language of work or name

English

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publication date

8 July 2008

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published in

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volume

105

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page(s)

9355-60

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issue

27

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cites work

Mutation of an A-kinase-anchoring protein causes long-QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Neuronal nitric oxide synthase signaling in the heart is regulated by the sarcolemmal calcium pump 4b

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

The steady state TTX-sensitive ("window") sodium current in cardiac Purkinje fibres

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Protein S-nitrosylation: purview and parameters

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Protein S-nitrosylation: a physiological signal for neuronal nitric oxide

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Nitric oxide synthases: roles, tolls, and controls

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Common NOS1AP variants are associated with a prolonged QTc interval in the Rotterdam Study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Shattuck Lecture. Nitric oxide and cyclic GMP in cell signaling and drug development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

The sarcolemmal calcium pump, alpha-1 syntrophin, and neuronal nitric-oxide synthase are parts of a macromolecular protein complex

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Regulation of the voltage-gated cardiac sodium channel Nav1.5 by interacting proteins.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

cGMP and S-nitrosylation: two routes for modulation of neuronal excitability by NO.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Diagnostic criteria for the long QT syndrome. An update

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Molecular mechanism for an inherited cardiac arrhythmia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Mutation detection in congenital long QT syndrome: cardiac channel gene screen using PCR, dHPLC, and direct DNA sequencing.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Nitric oxide blocks hKv1.5 channels by S-nitrosylation and by a cyclic GMP-dependent mechanism.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Cardiac sodium channel Nav1.5 is regulated by a multiprotein complex composed of syntrophins and dystrophin.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Nitric oxide regulates the heart by spatial confinement of nitric oxide synthase isoforms

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Nitric oxide modulates cardiac Na(+) channel via protein kinase A and protein kinase G.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Regulation of sodium currents through oxidation and reduction of thiol residues.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442127

Induction of persistent sodium current by exogenous and endogenous nitric oxide

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18591664

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18591664

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Nitric oxide regulates the heart by spatial confinement of nitric oxide synthase isoforms

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0801294105

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1073/PNAS.0801294105

1 reference

4357680

ADS bibcode

2008PNAS..105.9355U

0 references

4357680

1 reference

1 reference

1 reference