A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. (Q24301857)

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15 January 2020

title

A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy (English)

1 reference

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positive regulation of calcium ion binding

15 January 2020

main subject

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1901878

negative regulation of calcium ion binding

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1901877

regulation of calcium ion binding

1 reference

Gene Ontology release 2020-05-02

1 reference

GOA release 2020-03-11

negative regulation of heart rate

1 reference

GOA release 2020-03-11

1 reference

4

1 reference

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15 January 2020

author name string

Kobra Haghighi

1

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15 January 2020

Fotis Kolokathis

2

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15 January 2020

Anthony O Gramolini

3

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15 January 2020

Luke Pater

5

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15 January 2020

Roy A Lynch

6

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15 January 2020

Guo-Chang Fan

7

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15 January 2020

Dimitris Tsiapras

8

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15 January 2020

Rohan R Parekh

9

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15 January 2020

Gerald W Dorn

10

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15 January 2020

David H MacLennan

11

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15 January 2020

Dimitrios Th Kremastinos

12

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15 January 2020

Evangelia G Kranias

13

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15 January 2020

language of work or name

English

0 references

publication date

23 January 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16432188%20AND%20SRC:MED&resulttype=core&format=json

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

15 January 2020

published in

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15 January 2020

volume

103

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15 January 2020

issue

5

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15 January 2020

page(s)

1388-1393

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Enhancing calstabin binding to ryanodine receptors improves cardiac and skeletal muscle function in heart failure

15 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

Abnormal calcium signaling and sudden cardiac death associated with mutation of calsequestrin

19 March 2017

1 reference

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Improvement in survival and cardiac metabolism after gene transfer of sarcoplasmic reticulum Ca(2+)-ATPase in a rat model of heart failure

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

Transmembrane helix M6 in sarco(endo)plasmic reticulum Ca(2+)-ATPase forms a functional interaction site with phospholamban. Evidence for physical interactions at other sites

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

Targeted ablation of the phospholamban gene is associated with markedly enhanced myocardial contractility and loss of beta-agonist stimulation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release 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=1360586

Phospholamban: a crucial regulator of cardiac contractility

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

Targeting phospholamban by gene transfer in human heart failure

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

Cardiac-specific overexpression of a superinhibitory pentameric phospholamban mutant enhances inhibition of cardiac function in vivo

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

The human phospholamban gene: structure and expression

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

Phospholamban inhibitory function is activated by depolymerization

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

Survival after the onset of congestive heart failure in Framingham Heart Study 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=1360586

Recommendations for quantitation of the left ventricle by two-dimensional echocardiography. American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

The transgenic expression of highly inhibitory monomeric forms of phospholamban in mouse heart impairs cardiac contractility

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

Alterations of calcium-regulatory proteins in heart failure.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0510519103

Chronic suppression of heart-failure progression by a pseudophosphorylated mutant of phospholamban via in vivo cardiac rAAV gene delivery

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360586

Alterations of sarcoplasmic reticulum proteins in failing human dilated cardiomyopathy

29 November 2018

1 reference

12 December 2020

Maximal inhibition of SERCA2 Ca(2+) affinity by phospholamban in transgenic hearts overexpressing a non-phosphorylatable form of phospholamban

1 reference

12 December 2020

Superinhibition of sarcoplasmic reticulum function by phospholamban induces cardiac contractile failure

1 reference

12 December 2020

Gender influences on sarcoplasmic reticulum Ca2+-handling in failing human myocardium

1 reference

12 December 2020

Structural and functional implications of the phospholamban hinge domain: impaired SR Ca2+ uptake as a primary cause of heart failure

1 reference

12 December 2020

Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy

1 reference

12 December 2020

Abnormal intracellular calcium handling in myocardium from patients with end-stage heart failure

1 reference

12 December 2020

Intracellular calcium handling in isolated ventricular myocytes from patients with terminal heart failure

1 reference

12 December 2020

Biochemical and biophysical comparison of native and chemically synthesized phospholamban and a monomeric phospholamban analog

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0510519103

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15 January 2020

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15 January 2020

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