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Article

[AMP-activated protein kinase: how a mistake in energy gauge causes glycogen storage].

Harefuah - 1 Oct 2007

Ofir Michal, Hochhauser Edith, Vidne Bernardo A, Freimark Dov, Arad Michael

Abstract excerpt

Mutation in PRKAG2 encoding the gamma2 subunit of the AMP activated protein kinase (AMPK) cause human cardiomyopathy characterized by hypertrophy, Wolff-Parkinson-White syndrome, conduction system disease and glycogen storage in the myocardium. AMPK is a master metabolic regulator activated by hormones and energy deficient states. A heterotrimer enzyme comprising the catalytic alpha- and regulatory beta-and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17990392

Genes

PRKAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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[AMP-activated protein kinase: how a mistake in energy gauge causes glycogen storage].PMID 17990392Read ↗

Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome.Semantic proximity Read ↗

Human γ2-AMPK Mutations.Semantic proximity Read ↗

Metabolic functions of AMPK: aspects of structure and of natural mutations in the regulatory gamma subunits.Semantic proximity Read ↗

AMP-activated protein kinase: a key regulator of energy balance with many roles in human disease.Semantic proximity Read ↗

A PRKAG2 mutation causes biphasic changes in myocardial AMPK activity and does not protect against ischemia.Semantic proximity Read ↗

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.Semantic proximity Read ↗

AMP-activated protein kinase: a core signalling pathway in the heart.Semantic proximity Read ↗

Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease.Semantic proximity Read ↗

N488I mutation of the gamma2-subunit results in bidirectional changes in AMP-activated protein kinase activity.Semantic proximity Read ↗

Naturally occurring R225W mutation of the gene encoding AMP-activated protein kinase (AMPK)gamma(3) results in increased oxidative capacity and glucose uptake in human primary myotubes.Semantic proximity Read ↗

Molecular Pathogenesis of Familial Wolff-Parkinson-White Syndrome.Semantic proximity Read ↗

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathySemantic proximity Read ↗

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