Associated Papers
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
Atrial Lesions in a Pedigree With PRKAG2 Cardiomyopathy: Involvement of Disrupted AMP-Activated Protein Kinase Signaling.
Chen S et al.
Frontiers in Cardiovascular Medicine, 2022
Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort.
Ahamed H et al.
Scientific Reports, 2020
Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease.
Hu D et al.
Ebiomedicine, 2020
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Human γ2-AMPK Mutations.
Yavari A et al.
Methods in Molecular Biology (clifton, N.j.), 2018
Molecular Pathogenesis of Familial Wolff-Parkinson-White Syndrome.
Miyamoto L
The Journal of Medical Investigation : Jmi, 2018
A novel, de novo mutation in the PRKAG2 gene: infantile-onset phenotype and the signaling pathway involved.
Xu Y et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2017
A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation.
Yang KQ et al.
Scientific Reports, 2017
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Thevenon J et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2017
Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family.
Pu T et al.
Molecular Medicine Reports, 2015
Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish.
Zhang BL et al.
Clinical Genetics, 2014
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.
Zhang BL et al.
Journal of Cardiology, 2013
Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure.
Liu Y et al.
Plos One, 2013
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
Akman HO et al.
Pediatric Research, 2007
A conserved sequence immediately N-terminal to the Bateman domains in AMP-activated protein kinase gamma subunits is required for the interaction with the beta subunits.
Viana R et al.
The Journal of Biological Chemistry, 2007
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.
Burwinkel B et al.
American Journal of Human Genetics, 2005
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
Scott JW et al.
The Journal of Clinical Investigation, 2004