Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
PRKAG2 -Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review.
White-Brown AM et al.
American Journal of Medical Genetics. Part A, 2025
The metabolic sensor AMPK: Twelve enzymes in one.
Smiles WJ et al.
Molecular Metabolism, 2024
When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review.
Micaglio E et al.
International Journal of Molecular Sciences, 2024
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Sharma AK et al.
Scientific Reports, 2023
Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy.
Komurcu-Bayrak E et al.
Archives of Biochemistry and Biophysics, 2022
Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.
Gong X et al.
Molecular Genetics & Genomic Medicine, 2022
Animal Models to Study Cardiac Arrhythmias.
Blackwell DJ et al.
Circulation Research, 2022
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
Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients.
Weng S et al.
Plos One, 2021
Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease.
Hu D et al.
Ebiomedicine, 2020
Report of a Family with Craniofrontonasal Syndrome and Wolff-Parkinson-White Syndrome: Is it a New Finding?
Kilit C et al.
Arquivos Brasileiros De Cardiologia, 2019
Patient with a PRKAG2 mutation who developed Immunoglobulin A nephropathy: a case report.
Giudici MC et al.
European Heart Journal. Case Reports, 2019
A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations.
Sri A et al.
Case Reports in Pediatrics, 2019
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
Physiological Expression of AMPKγ2RG Mutation Causes Wolff-Parkinson-White Syndrome and Induces Kidney Injury in Mice.
Yang X et al.
The Journal of Biological Chemistry, 2016
Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome.
Xie C et al.
Cell Research, 2016
Clinical Spectrum of PRKAG2 Syndrome.
Porto AG et al.
Circulation. Arrhythmia and Electrophysiology, 2016
Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family.
Pu T et al.
Molecular Medicine Reports, 2015
Novel polymorphisms of the PRKAG2 gene and their association with body measurement and meat quality traits in Qinchuan cattle.
Fu CZ et al.
Genetics and Molecular Research : Gmr, 2015
Methotrexate promotes glucose uptake and lipid oxidation in skeletal muscle via AMPK activation.
Pirkmajer S et al.
Diabetes, 2015
Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes.
Durinck S et al.
Nature Genetics, 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
Use of cells expressing gamma subunit variants to identify diverse mechanisms of AMPK activation.
Hawley SA et al.
Cell Metabolism, 2010
Distinct early signaling events resulting from the expression of the PRKAG2 R302Q mutant of AMPK contribute to increased myocardial glycogen.
Folmes KD et al.
Circulation. Cardiovascular Genetics, 2009
The genetics of hypertrophic cardiomyopathy: Teare redux.
Watkins H et al.
Heart (british Cardiac Society), 2008
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 PRKAG2 mutation causes biphasic changes in myocardial AMPK activity and does not protect against ischemia.
Banerjee SK et al.
Biochemical and Biophysical Research Communications, 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
Familial Wolff-Parkinson-White Syndrome: a disease of glycogen storage or ion channel dysfunction?
Light PE
Journal of Cardiovascular Electrophysiology, 2006
Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy.
Ahmad F et al.
Circulation, 2005
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
Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history.
Murphy RT et al.
Journal of the American College of Cardiology, 2005
Mechanisms of inherited cardiac conduction disease.
Smits JP 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, 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
PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy.
Gollob MH et al.
Current Opinion in Cardiology, 2002
Wolff-Parkinson-white syndrome: a genetic disease?
Doevendans PA et al.
Circulation, 2001
Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy.
Gollob MH et al.
Circulation, 2001
[Association of Wolff-Parkinson-White syndrome with congenital bone abnormalities of the hands and feet].
Gimenez VM et al.
Arquivos Brasileiros De Cardiologia, 1978
[Familial occurrence of Wolff-Parkinson-White syndrome. Report of a family group and review of the literature].
Mispireta JL et al.
Archivos Del Instituto De Cardiologia De Mexico, 0
High risk of sudden death associated with a PRKAG2-related familial Wolff-Parkinson-White syndrome.
Zhang LP et al.
Journal of Electrocardiology, 0
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.
Austin SL et al.
Molecular Genetics and Metabolism, 0