Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.G109A
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GAPDH

NM_002046.7:p.G109A

Associated Papers

p53 drives lung cancer regression through a TSC2/TFEB-dependent senescence program.

Wang M et al.

Cancer Discovery, 2025

Phosphorylation of cardiac sodium channel at Ser571 anticipates manifestations of the aging myopathy.

Pizzo E et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2024

Cardiac-Specific Deletion of Scn8a Mitigates Dravet Syndrome-Associated Sudden Death in Adults.

King DR et al.

Jacc. Clinical Electrophysiology, 2024

38430092 (PubMed )
Supplement: NIHMS2009411-supplement-Supplement.docx

Glioblastoma and its treatment are associated with extensive accelerated brain aging.

Ainslie AP et al.

Aging Cell, 2024

Palmitoylation-dependent regulation of cardiomyocyte Rac1 signaling activity and minor effects on cardiac hypertrophy.

Baldwin TA et al.

The Journal of Biological Chemistry, 2023

C9orf72 poly(PR) mediated neurodegeneration is associated with nucleolar stress.

Cicardi ME et al.

Iscience, 2023

STAT3 Drives GFAP Accumulation and Astrocyte Pathology in a Mouse Model of Alexander Disease.

Hagemann TL et al.

Cells, 2023

C9orf72 poly(PR) mediated neurodegeneration is associated with nucleolar stress.

Cicardi ME et al.

Biorxiv : the Preprint Server for Biology, 2023

Rpl3l gene deletion in mice reduces heart weight over time.

Grimes KM et al.

Frontiers in Physiology, 2023

The Mettl3 epitranscriptomic writer amplifies p53 stress responses.

Raj N et al.

Molecular Cell, 2022

Chronically elevated branched chain amino acid levels are pro-arrhythmic.

Portero V et al.

Cardiovascular Research, 2022

The H3.3K27M oncohistone affects replication stress outcome and provokes genomic instability in pediatric glioma.

Bočkaj I et al.

Plos Genetics, 2021

Identification of distinct tumor cell populations and key genetic mechanisms through single cell sequencing in hepatoblastoma.

Bondoc A et al.

Communications Biology, 2021

Ca2+/calmodulin kinase II-dependent regulation of βIV-spectrin modulates cardiac fibroblast gene expression, proliferation, and contractility.

Nassal DM et al.

The Journal of Biological Chemistry, 2021

Insulin-like growth factor 2 (IGF2) protects against Huntington's disease through the extracellular disposal of protein aggregates.

García-Huerta P et al.

Acta Neuropathologica, 2020

Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility.

Yeshaw WM et al.

Elife, 2019

Phosphorylation of the ryanodine receptor 2 at serine 2030 is required for a complete β-adrenergic response.

Potenza DM et al.

The Journal of General Physiology, 2019

Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy.

Arnold FJ et al.

Scientific Reports, 2019

Thrombospondin-3 augments injury-induced cardiomyopathy by intracellular integrin inhibition and sarcolemmal instability.

Schips TG et al.

Nature Communications, 2019

Identification of a Functional Non-coding Variant in the GABA A Receptor α2 Subunit of the C57BL/6J Mouse Reference Genome: Major Implications for Neuroscience Research.

Mulligan MK et al.

Frontiers in Genetics, 2019

Bioinformatic analysis of a plakophilin-2-dependent transcription network: implications for the mechanisms of arrhythmogenic right ventricular cardiomyopathy in humans and in boxer dogs.

Montnach 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, 2018

RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling.

van den Hoogenhof MMG et al.

Circulation, 2018

29650543 (PubMed )
Supplement: circ_circulationaha-2017-031947_supp1.pdf

Astrocytes expressing ALS-linked mutant FUS induce motor neuron death through release of tumor necrosis factor-alpha.

Kia A et al.

Glia, 2018

Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects.

Hu R et al.

Circulation. Genomic and Precision Medicine, 2018

Linkage of Metabolic Defects to Activated PIK3CA Alleles in Endothelial Cells Derived from Lymphatic Malformation.

Glaser K et al.

Lymphatic Research and Biology, 2018

Plakophilin-2 is required for transcription of genes that control calcium cycling and cardiac rhythm.

Cerrone M et al.

Nature Communications, 2017

Glial fibrillary acidic protein exhibits altered turnover kinetics in a mouse model of Alexander disease.

Moody LR et al.

The Journal of Biological Chemistry, 2017

Two-Pore K+ Channel TREK-1 Regulates Sinoatrial Node Membrane Excitability.

Unudurthi SD et al.

Journal of the American Heart Association, 2016

Autophagy mediates degradation of nuclear lamina.

Dou Z et al.

Nature, 2015

Lithium Decreases Glial Fibrillary Acidic Protein in a Mouse Model of Alexander Disease.

LaPash Daniels CM et al.

Plos One, 2015

Suppression of GFAP toxicity by alphaB-crystallin in mouse models of Alexander disease.

Hagemann TL et al.

Human Molecular Genetics, 2009

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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."