Associated Papers
PKM1 is required for embryonic cardiomyocyte proliferation through energetic regulation of NFYa stability.
Zhang D et al.
National Science Review, 2026
The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.
Fetisova S et al.
Pediatric Research, 2025
PRKAG2 Syndrome: Clinical Features, Imaging Findings and Cardiac Events.
Sudomir M et al.
Biomedicines, 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
Severe Hypertrophic Cardiomyopathy Caused by a Protein Kinase Adenosine Monophosphate-Activated Non-catalytic Subunit Gamma 2 (PRKAG2) Mutation With Refractory Chylous Effusions in a Neonate: A Case Report and Literature Review.
Minamitani Y et al.
Cureus, 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
Intrafamilial Phenotypical Variability Linked to PRKAG2 Mutation-Family Case Report and Review of the Literature.
Marcu AS et al.
Life (basel, Switzerland), 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.
Pezzoli L et al.
Journal of Cardiovascular Development and Disease, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort.
Ahamed H et al.
Scientific Reports, 2020
Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q.
Hu J et al.
Current Medical Science, 2020
Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease.
Hu D et al.
Ebiomedicine, 2020
Genetics and Clinical Features of Noncompaction Cardiomyopathy in the Fetal Population.
Sun H et al.
Frontiers in Cardiovascular Medicine, 2020
Update on polyglucosan storage diseases.
Cenacchi G et al.
Virchows Archiv : an International Journal of Pathology, 2019
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Taylor J et al.
Genome Medicine, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis.
Gorla SR et al.
Journal of Pediatric Genetics, 2018
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
PRKAG2 mutations presenting in infancy.
Torok RD et al.
Journal of Inherited Metabolic Disease, 2017
Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.
Giacomelli E et al.
Cellular and Molecular Life Sciences : Cmls, 2017
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
The PRKAG2 gene and hypertrophic cardiomyopathy: an energetically imbalanced relationship.
Calore M
American Journal of Physiology. Heart and Circulatory Physiology, 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
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis.
Hinson JT et al.
Cell Reports, 2016
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
Phase II Pilot Study of Vemurafenib in Patients With Metastatic BRAF-Mutated Colorectal Cancer.
Kopetz S et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family.
Pu T et al.
Molecular Medicine Reports, 2015
Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes.
Durinck S et al.
Nature Genetics, 2015
Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp.
Okuno M et al.
Human Genome Variation, 2015
Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish.
Zhang BL et al.
Clinical Genetics, 2014
Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.
Griewank KG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013
Neuromuscular disorders of glycogen metabolism.
Gazzerro E et al.
Current Neurology and Neuroscience Reports, 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
Embryonic expression of AMPK γ subunits and the identification of a novel γ2 transcript variant in adult heart.
Pinter K et al.
Journal of Molecular and Cellular Cardiology, 2012
Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain.
Dimauro S et al.
Seminars in Fetal & Neonatal Medicine, 2011
Use of cells expressing gamma subunit variants to identify diverse mechanisms of AMPK activation.
Hawley SA et al.
Cell Metabolism, 2010
Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation.
Kelly BP et al.
Pediatric Cardiology, 2009