Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Human γ2-AMPK Mutations.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2018

Yavari Arash, Sarma Dhruv, Sternick Eduardo B

Abstract excerpt

In humans, dominant mutations in the gene encoding the regulatory γ2-subunit of AMP-activated protein kinase (PRKAG2) result in a highly penetrant phenotype dominated by cardiac features: left ventricular hypertrophy, ventricular pre-excitation, atrial tachyarrhythmia, cardiac conduction disease, and myocardial glycogen storage. The discovery of a link between the cell's fundamental energy sensor, AMPK, and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to AMP-Activated Protein Kinases
Share to Arrhythmias, Cardiac
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrocardiography

Share to Heart Failure

Share to Heart Ventricles

Share to Multienzyme Complexes

Share to Myocardium

Source

Identifiers

PMID: 29480501
DOI: 10.1007/978-1-4939-7598-3_37

Genes

PRKAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human γ2-AMPK Mutations.PMID 29480501Read ↗

Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure.Semantic proximity Read ↗

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

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

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

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

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.Semantic proximity Read ↗

Identification and functional analysis of a novel PRKAG2 mutation responsible for Chinese PRKAG2 cardiac syndrome reveal an important role of non-CBS domains in regulating the AMPK pathway.Semantic proximity Read ↗

Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy.Semantic proximity Read ↗

Mammalian γ2 AMPK regulates intrinsic heart rate.Semantic proximity Read ↗

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

A novel, de novo mutation in the PRKAG2 gene: infantile-onset phenotype and the signaling pathway involved.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.