Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure (Q34760564)

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2 March 2020

title

Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure (English)

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2 March 2020

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11

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2 March 2020

Charles Antzelevitch

12

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2 March 2020

Dan Hu

13

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2 March 2020

Hector Barajas-Martinez

10

object named as

Hector Barajas-Martinez

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2 March 2020

author name string

Yang Liu

1

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2 March 2020

Rong Bai

2

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2 March 2020

Lin Wang

3

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2 March 2020

Cuntai Zhang

4

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2 March 2020

Ruifu Zhao

5

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2 March 2020

Deli Wan

6

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2 March 2020

Xinshan Chen

7

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2 March 2020

Gabriel Caceres

8

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2 March 2020

Daniel Barr

9

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2 March 2020

language of work or name

English

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publication date

31 May 2013

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2 March 2020

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2 March 2020

volume

8

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2 March 2020

issue

5

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2 March 2020

page(s)

e64603

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Creative Commons Attribution 4.0 International

2 March 2020

copyright license

start time

31 May 2013

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Characterization of the role of gamma2 R531G mutation in AMP-activated protein kinase in cardiac hypertrophy and Wolff-Parkinson-White syndrome

7 July 2018

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Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency

7 July 2018

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Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history

7 July 2018

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Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome.

7 July 2018

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CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations

7 July 2018

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7 July 2018

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PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy

7 July 2018

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Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

7 July 2018

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Identification of a gene responsible for familial Wolff-Parkinson-White syndrome

7 July 2018

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Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

7 July 2018

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Molecular cloning, genomic organization, and mapping of PRKAG2, a heart abundant gamma2 subunit of 5'-AMP-activated protein kinase, to human chromosome 7q36

7 July 2018

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Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding

7 July 2018

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Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.

7 July 2018

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Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: The role of PRKAG2 mutation

21 January 2018

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Myocardial lesions after long-term administration of methamphetamine in rats

21 January 2018

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Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy

21 January 2018

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12 December 2020

Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase

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12 December 2020

Focal AF-ablation after pulmonary vein isolation in a patient with hypertrophic cardiomyopathy using cryothermal energy

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12 December 2020

Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation

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12 December 2020

Hypertrophic cardiomyopathy

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12 December 2020

Detection of left ventricular regional relaxation abnormalities in patients with hypertrophic cardiomyopathy by quantitative tissue velocity imaging

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12 December 2020

A PRKAG2 mutation causes biphasic changes in myocardial AMPK activity and does not protect against ischemia

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12 December 2020

10.1371/JOURNAL.PONE.0064603

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23741347%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

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release_fampgaxnerhy7pollzoa74or54

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Fatcat

https://api.fatcat.wiki/v0/release/fampgaxnerhy7pollzoa74or54

24 November 2022

mapped directly with Wikidata item

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2 March 2020

PubMed publication ID

23741347

1 reference

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