Varaico: Literature-Extracted Genetic Variants

Gene:PRKAA2
Variant:p.R531G
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PRKAA2

NM_006252.4:p.R531G

Associated Papers

The metabolic sensor AMPK: Twelve enzymes in one.

Smiles WJ et al.

Molecular Metabolism, 2024

Energy sensor AMPK gamma regulates translation via phosphatase PPP6C independent of AMPK alpha.

Zhou Q et al.

Molecular Cell, 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

ATM-CHK2-Beclin 1 axis promotes autophagy to maintain ROS homeostasis under oxidative stress.

Guo QQ et al.

The Embo Journal, 2020

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

Fructose-1,6-bisphosphate and aldolase mediate glucose sensing by AMPK.

Zhang CS et al.

Nature, 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

Mutant p53 proteins counteract autophagic mechanism sensitizing cancer cells to mTOR inhibition.

Cordani M et al.

Molecular Oncology, 2016

Methotrexate promotes glucose uptake and lipid oxidation in skeletal muscle via AMPK activation.

Pirkmajer S et al.

Diabetes, 2015

α-SNAP inhibits AMPK signaling to reduce mitochondrial biogenesis and dephosphorylates Thr172 in AMPKα in vitro.

Wang L et al.

Nature Communications, 2013

Structure of mammalian AMPK and its regulation by ADP.

Xiao B et al.

Nature, 2011

21399626 (PubMed )
Supplement: NIHMS34435-supplement-1.pdf

Use of cells expressing gamma subunit variants to identify diverse mechanisms of AMPK activation.

Hawley SA et al.

Cell Metabolism, 2010

Roles of the glycogen-binding domain and Snf4 in glucose inhibition of SNF1 protein kinase.

Momcilovic M et al.

The Journal of Biological Chemistry, 2008

Structure of the Bateman2 domain of yeast Snf4: dimeric association and relevance for AMP binding.

Rudolph MJ et al.

Structure (london, England : 1993), 2007

Characterization of the role of gamma2 R531G mutation in AMP-activated protein kinase in cardiac hypertrophy and Wolff-Parkinson-White syndrome.

Davies JK et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2006

N488I mutation of the gamma2-subunit results in bidirectional changes in AMP-activated protein kinase activity.

Zou L et al.

Circulation Research, 2005

Intrasteric control of AMPK via the gamma1 subunit AMP allosteric regulatory site.

Adams J et al.

Protein Science : a Publication of the Protein Society, 2004

The AMP-activated protein kinase cascade--a unifying system for energy control.

Carling D

Trends in Biochemical Sciences, 2004

Functional analysis of mutations in the gamma 2 subunit of AMP-activated protein kinase associated with cardiac hypertrophy and Wolff-Parkinson-White syndrome.

Daniel T et al.

The Journal of Biological Chemistry, 2002

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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."