Associated Papers
Unraveling LINE-1 retrotransposition in head and neck squamous cell carcinoma.
Brea-Iglesias J et al.
Molecular Oncology, 2025
40465458 (PubMed )
Supplement: MOL2-19-3769-s001.xlsx › Table_S5
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
The human AMPKγ3 R225W mutation negatively impacts site-1 nucleotide binding and does not enhance basal AMPKγ3-associated activity nor glycogen production in human or mouse skeletal muscle.
Eskesen NO et al.
Acta Physiologica (oxford, England), 2024
AMPKγ3 Controls Muscle Glucose Uptake in Recovery From Exercise to Recapture Energy Stores.
Kido K et al.
Diabetes, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Association of T-box gene polymorphisms with the risk of Wolff-Parkinson-White syndrome in a Han Chinese population.
Han B et al.
Medicine, 2022
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Molecular Pathogenesis of Familial Wolff-Parkinson-White Syndrome.
Miyamoto L
The Journal of Medical Investigation : Jmi, 2018
Domestic animals as models for biomedical research.
Andersson L
Upsala Journal of Medical Sciences, 2016
Neuromuscular disorders of glycogen metabolism.
Gazzerro E et al.
Current Neurology and Neuroscience Reports, 2013
SNP variation in the promoter of the PRKAG3 gene and association with meat quality traits in pig.
Ryan MT et al.
Bmc Genetics, 2012
Lessons to learn about postmortem metabolism using the AMPKγ3(R200Q) mutation in the pig.
Scheffler TL et al.
Meat Science, 2011
Muscle glycogen resynthesis, signalling and metabolic responses following acute exercise in exercise-trained pigs carrying the PRKAG3 mutation.
Essén-Gustavsson B et al.
Experimental Physiology, 2011
Metabolic functions of AMPK: aspects of structure and of natural mutations in the regulatory gamma subunits.
Moffat C et al.
Iubmb Life, 2010
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.
Crawford SA et al.
Diabetologia, 2010
Effects of exercise on muscle glycogen synthesis signalling and enzyme activities in pigs carrying the PRKAG3 mutation.
Granlund A et al.
Experimental Physiology, 2010
Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle.
Costford SR et al.
Plos One, 2007
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