Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.E455K
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BAG3

NM_004281.4:p.E455K

Associated Papers

The BAG3-HSP70-CHIP axis controls the degradation of TGFBR2 in cardiac fibroblasts.

Morsink MAJ et al.

Journal of Molecular and Cellular Cardiology, 2025

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Cardiac fibroblast BAG3 regulates TGFBR2 signaling and fibrosis in dilated cardiomyopathy.

Wang BZ et al.

The Journal of Clinical Investigation, 2025

Universal Adapter Protein Bag3 and Small Heat Shock Proteins.

Zamotina MA et al.

Biochemistry. Biokhimiia, 2024

Association Between Clonal Hematopoiesis and Left Ventricular Reverse Remodeling in Nonischemic Dilated Cardiomyopathy.

Inoue S et al.

Jacc. Basic to Translational Science, 2024

39297129 (PubMed )
Supplement: mmc1.pdf

Dysregulated Autophagy and Sarcomere Dysfunction in Patients With Heart Failure With Co-Occurrence of P63A and P380S BAG3 Variants.

Martin TG et al.

Journal of the American Heart Association, 2023

Bag3 Regulates Mitochondrial Function and the Inflammasome Through Canonical and Noncanonical Pathways in the Heart.

Wang J et al.

Jacc. Basic to Translational Science, 2023

Functional analysis of a common BAG3 allele associated with protection from heart failure.

Perez-Bermejo JA et al.

Nature Cardiovascular Research, 2023

The chaperone-assisted selective autophagy complex dynamics and dysfunctions.

Tedesco B et al.

Autophagy, 2023

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

Genetics of BAG3: A Paradigm for Developing Precision Therapies for Dilated Cardiomyopathies.

Qu HQ et al.

Journal of the American Heart Association, 2022

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Yang Q et al.

Journal of the American Heart Association, 2022

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Dellefave-Castillo LM et al.

Jama Cardiology, 2022

35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup

Phenotypic screening with deep learning identifies HDAC6 inhibitors as cardioprotective in a BAG3 mouse model of dilated cardiomyopathy.

Yang J et al.

Science Translational Medicine, 2022

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.

Jiang H et al.

Basic Research in Cardiology, 2021

Advances in the role and mechanism of BAG3 in dilated cardiomyopathy.

Liu L et al.

Heart Failure Reviews, 2021

Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.

Quiat D et al.

Journal of the American Heart Association, 2020

BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes.

Adriaenssens E et al.

Scientific Reports, 2020

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S12

P209L mutation in Bag3 does not cause cardiomyopathy in mice.

Fang X et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2019

Lamin B is a target for selective nuclear PQC by BAG3: implication for nuclear envelopathies.

Gupta MK et al.

Cell Death & Disease, 2019

BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.

Kim SJ et al.

Genes & Genomics, 2018

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.

Shy M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

The Multifunctional Protein BAG3: A Novel Therapeutic Target in Cardiovascular Disease.

Myers VD et al.

Jacc. Basic to Translational Science, 2018

Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy.

Fang X et al.

The Journal of Clinical Investigation, 2017

The Role of the Multifunctional BAG3 Protein in Cellular Protein Quality Control and in Disease.

Stürner E et al.

Frontiers in Molecular Neuroscience, 2017

Non-canonical Interactions between Heat Shock Cognate Protein 70 (Hsc70) and Bcl2-associated Anthanogene (BAG) Co-Chaperones Are Important for Client Release.

Rauch JN et al.

The Journal of Biological Chemistry, 2016

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.

Franaszczyk M et al.

Journal of Translational Medicine, 2014

Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.

Suo SB et al.

Journal of Proteome Research, 2013

23298314 (PubMed )
Supplement: pr301007j_si_004.pdf

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.

Villard E et al.

European Heart Journal, 2011

A patient-specific engineered tissue model of BAG3-mediated cardiomyopathy.

Morsink MAJ et al.

Journal of Tissue Engineering, 0

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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."