Varaico: Literature-Extracted Genetic Variants

Gene:PRKAA2
Variant:p.K45R
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PRKAA2

NM_006252.4:p.K45R

Associated Papers

Endothelial KSR2 regulated by genetic variation protects against atherosclerosis through AMPKα1 stabilization.

Liu M et al.

Theranostics, 2026

Alpha-synuclein mutations mislocalize cytoplasmic p300 compromising autophagy, which is rescued by ACLY inhibition.

Son SM et al.

Neuron, 2025

p300 nucleocytoplasmic shuttling underlies mTORC1 hyperactivation in Hutchinson-Gilford progeria syndrome.

Son SM et al.

Nature Cell Biology, 2024

SAPS3 subunit of protein phosphatase 6 is an AMPK inhibitor and controls metabolic homeostasis upon dietary challenge in male mice.

Yang Y et al.

Nature Communications, 2023

AMPK-mediated phosphorylation enhances the auto-inhibition of TBC1D17 to promote Rab5-dependent glucose uptake.

Rao XS et al.

Cell Death and Differentiation, 2021

Tmod3 Phosphorylation Mediates AMPK-Dependent GLUT4 Plasma Membrane Insertion in Myoblasts.

Shrestha MM et al.

Frontiers in Endocrinology, 2021

Protective autophagy elicited by RAF→MEK→ERK inhibition suggests a treatment strategy for RAS-driven cancers.

Kinsey CG et al.

Nature Medicine, 2019

β1Pix exchange factor stabilizes the ubiquitin ligase Nedd4-2 and plays a critical role in ENaC regulation by AMPK in kidney epithelial cells.

Ho PY et al.

The Journal of Biological Chemistry, 2018

AMPK improves gut epithelial differentiation and barrier function via regulating Cdx2 expression.

Sun X et al.

Cell Death and Differentiation, 2017

Activation of the metabolic sensor AMP-activated protein kinase inhibits aquaporin-2 function in kidney principal cells.

Al-Bataineh MM et al.

American Journal of Physiology. Renal Physiology, 2016

Cardiac-Specific Deletion of the Pdha1 Gene Sensitizes Heart to Toxicological Actions of Ischemic Stress.

Sun W et al.

Toxicological Sciences : an Official Journal of the Society of Toxicology, 2016

Cross-cancer profiling of molecular alterations within the human autophagy interaction network.

Lebovitz CB et al.

Autophagy, 2015

26208877 (PubMed )
Supplement: kaup-11-09-1067362-s001.zip › 1067362_supplemental_files › 2014AUTO0485R1-s03.xlsx › UCEC-mutations

AMP-activated protein kinase regulates hERG potassium channel.

Almilaji A et al.

Pflugers Archiv : European Journal of Physiology, 2013

Dual specificity phosphatase 4 mediates cardiomyopathy caused by lamin A/C (LMNA) gene mutation.

Choi JC et al.

The Journal of Biological Chemistry, 2012

Deficiency in AMPK attenuates ethanol-induced cardiac contractile dysfunction through inhibition of autophagosome formation.

Guo R et al.

Cardiovascular Research, 2012

Inhibition of Kir2.1 (KCNJ2) by the AMP-activated protein kinase.

Alesutan I et al.

Biochemical and Biophysical Research Communications, 2011

Molecular mechanism by which AMP-activated protein kinase activation promotes glycogen accumulation in muscle.

Hunter RW et al.

Diabetes, 2011

Inhibition of the heterotetrameric K+ channel KCNQ1/KCNE1 by the AMP-activated protein kinase.

Alesutan I et al.

Molecular Membrane Biology, 2011

AMP-activated protein kinase phosphorylation of the R domain inhibits PKA stimulation of CFTR.

King JD et al.

American Journal of Physiology. Cell Physiology, 2009

Mechanistic insight into control of CFTR by AMPK.

Kongsuphol P et al.

The Journal of Biological Chemistry, 2009

Phosphorylation of LKB1 at serine 428 by protein kinase C-zeta is required for metformin-enhanced activation of the AMP-activated protein kinase in endothelial cells.

Xie Z et al.

Circulation, 2008

S6 kinase deletion suppresses muscle growth adaptations to nutrient availability by activating AMP kinase.

Aguilar V et al.

Cell Metabolism, 2007

The role of AMPK and mTOR in nutrient sensing in pancreatic beta-cells.

Gleason CE et al.

The Journal of Biological Chemistry, 2007

AMP-activated kinase inhibits the epithelial Na+ channel through functional regulation of the ubiquitin ligase Nedd4-2.

Bhalla V et al.

The Journal of Biological Chemistry, 2006

Hypoxia-induced energy stress regulates mRNA translation and cell growth.

Liu L et al.

Molecular Cell, 2006

Akt activates the mammalian target of rapamycin by regulating cellular ATP level and AMPK activity.

Hahn-Windgassen A et al.

The Journal of Biological Chemistry, 2005

Epithelial sodium channel inhibition by AMP-activated protein kinase in oocytes and polarized renal epithelial cells.

Carattino MD et al.

The Journal of Biological Chemistry, 2005

The LKB1 tumor suppressor negatively regulates mTOR signaling.

Shaw RJ et al.

Cancer Cell, 2004

Physiological modulation of CFTR activity by AMP-activated protein kinase in polarized T84 cells.

Hallows KR et al.

American Journal of Physiology. Cell Physiology, 2003

Regulation of channel gating by AMP-activated protein kinase modulates cystic fibrosis transmembrane conductance regulator activity in lung submucosal cells.

Hallows KR et al.

The Journal of Biological Chemistry, 2003

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