Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG3
Variant:p.R225Q
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PRKAG3

NM_017431.4:p.R225Q

Associated Papers

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

Muscle glycogen level and occurrence of acid meat in commercial hybrid pigs are regulated by two low-frequency causal variants with large effects and multiple common variants with small effects.

Liu X et al.

Genetics, Selection, Evolution : Gse, 2019

Quantitative Proteomics and Phosphoproteomics Analysis Revealed Different Regulatory Mechanisms of Halothane and Rendement Napole Genes in Porcine Muscle Metabolism.

Huang H et al.

Journal of Proteome Research, 2018

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

A splice mutation in the PHKG1 gene causes high glycogen content and low meat quality in pig skeletal muscle.

Ma J et al.

Plos Genetics, 2014

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

The influence of the PRKAG3 mutation on glycogen, enzyme activities and fibre types in different skeletal muscles of exercise trained pigs.

Granlund A et al.

Acta Veterinaria Scandinavica, 2011

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

Genome-wide association analysis in domestic animals: a powerful approach for genetic dissection of trait loci.

Andersson L

Genetica, 2009

Gain-of-function R225Q mutation in AMP-activated protein kinase gamma3 subunit increases mitochondrial biogenesis in glycolytic skeletal muscle.

Garcia-Roves PM et al.

The Journal of Biological Chemistry, 2008

Role of AMP-activated protein kinase gamma 3 genetic variability in glucose and lipid metabolism in non-diabetic whites.

Weyrich P et al.

Diabetologia, 2007

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

Regulation of the muscle-specific AMP-activated protein kinase alpha2beta2gamma3 complexes by AMP and implications of the mutations in the gamma3-subunit for the AMP dependence of the enzyme.

Lindgren K et al.

The Febs Journal, 2007

Molecular cloning, genomic organization, and expression of three chicken 5'-AMP-activated protein kinase gamma subunit genes.

Proszkowiec-Weglarz M et al.

Poultry Science, 2006

Muscle-specific overexpression of wild type and R225Q mutant AMP-activated protein kinase gamma3-subunit differentially regulates glycogen accumulation.

Yu H et al.

American Journal of Physiology. Endocrinology and Metabolism, 2006

Opposite transcriptional regulation in skeletal muscle of AMP-activated protein kinase gamma3 R225Q transgenic versus knock-out mice.

Nilsson EC et al.

The Journal of Biological Chemistry, 2006

Characterization of the bovine PRKAG3 gene: structure, polymorphism, and alternative transcripts.

Roux M et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2006

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

5'-AMP-activated protein kinase regulates skeletal muscle glycogen content and ergogenics.

Barnes BR et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2005

The 5'-AMP-activated protein kinase gamma3 isoform has a key role in carbohydrate and lipid metabolism in glycolytic skeletal muscle.

Barnes BR et al.

The Journal of Biological Chemistry, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."