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 (Q24301469)

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English	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	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

congenital disorder

0 references

Protein kinase AMP-activated non-catalytic subunit gamma 2

1 reference

GOA release 2020-03-11

positive regulation of protein kinase activity

1 reference

GOA release 2020-03-11

Barbara Burwinkel

1

object named as

Barbara Burwinkel

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object named as

John W Scott

2

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Frank van Landeghem

1 reference

ORCID Public Data File 2021

author name string

Christoph Bührer

3

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Frank K H van Landeghem

4

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Europe PubMed Central

PubMed publication ID

4 July 2017

Gerald F Cox

5

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Callum J Wilson

6

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

D Grahame Hardie

7

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Manfred W Kilimann

8

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Europe PubMed Central

PubMed publication ID

4 July 2017

language of work or name

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publication date

2 May 2005

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Europe PubMed Central

PubMed publication ID

4 July 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

4 July 2017

76

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Europe PubMed Central

PubMed publication ID

4 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

1034-1049

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

The tumor suppressor LKB1 kinase directly activates AMP-activated kinase and regulates apoptosis in response to energy stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

Bateman domains and adenosine derivatives form a binding contract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

Complexes between the LKB1 tumor suppressor, STRAD alpha/beta and MO25 alpha/beta are upstream kinases in the AMP-activated protein kinase cascade

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

Characterization of the role of the AMP-activated protein kinase in the stimulation of glucose transport in skeletal muscle cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

An activating mutation in the gamma1 subunit of the AMP-activated protein kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

Characterization of the AMP-activated protein kinase kinase from rat liver and identification of threonine 172 as the major site at which it phosphorylates AMP-activated protein kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

Synergistic phosphorylation of rabbit muscle glycogen synthase by cyclic AMP-dependent protein kinase and casein kinase I. Implications for hormonal regulation of glycogen synthase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

LKB1 is the upstream kinase in the AMP-activated protein kinase cascade

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

Activation of GLUT1 by metabolic and osmotic stress: potential involvement of AMP-activated protein kinase (AMPK)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

The AMP-activated protein kinase pathway--new players upstream and downstream.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

Expression profiling of the gamma-subunit isoforms of AMP-activated protein kinase suggests a major role for gamma3 in white skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

Minireview: the AMP-activated protein kinase cascade: the key sensor of cellular energy status.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

Functional analysis of mutations in the gamma 2 subunit of AMP-activated protein kinase associated with cardiac hypertrophy and Wolff-Parkinson-White syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

Clinicopathological features of genetically confirmed Danon disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

AMP-activated protein kinase: the energy charge hypothesis revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

Analysis of the role of the AMP-activated protein kinase in the response to cellular stress.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

5' AMP-activated protein kinase activation causes GLUT4 translocation in skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

AMP-activated protein kinase: an ultrasensitive system for monitoring cellular energy charge.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

The structure of a domain common to archaebacteria and the homocystinuria disease protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

27 September 2017

The 5'-AMP-activated protein kinase gamma3 isoform has a key role in carbohydrate and lipid metabolism in glycolytic skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

30 May 2018

Translocation of myocardial GLUT-4 and increased glucose uptake through activation of AMPK by AICAR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

30 May 2018

Evidence for 5' AMP-activated protein kinase mediation of the effect of muscle contraction on glucose transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

30 May 2018

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

29 November 2018

The alpha2-5'AMP-activated protein kinase is a site 2 glycogen synthase kinase in skeletal muscle and is responsive to glucose loading.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

29 November 2018

[Glycogenosis type IV as a seldom cause of cardiomyopathy - report about a successful heart transplantation]

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

29 November 2018

A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196441

29 November 2018

Pediatric cardiomyopathy--a long way to go

1 reference

https://pubmed.ncbi.nlm.nih.gov/15877279

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15877279

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fetal bradycardia at 28 weeks of gestation associated with cardiac glycogen phosphorylase b kinase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15877279

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15877279

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe cardiopathy in branching enzyme deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15877279

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15877279

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The substrate and sequence specificity of the AMP-activated protein kinase. Phosphorylation of glycogen synthase and phosphorylase kinase

1 reference

https://pubmed.ncbi.nlm.nih.gov/15877279

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile autophagic vacuolar myopathy is distinct from Danon disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15877279

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15877279

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of the functional significance of left ventricular hypertrophy in hypertrophic cardiomyopathy and glycogenosis type III

1 reference

https://pubmed.ncbi.nlm.nih.gov/15877279

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15877279

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Continuous subcultivation of epithelial-like cells from normal human tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/15877279

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

PubMed publication ID

4 July 2017

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

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PMC publication ID

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Europe PubMed Central

PubMed publication ID

4 July 2017

PubMed publication ID

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Europe PubMed Central

PubMed publication ID

4 July 2017

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