Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.P209S
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BAG3

NM_004281.4:p.P209S

Associated Papers

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

Fernández-Eulate G et al.

Brain : a Journal of Neurology, 2025

Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.

Laurini C et al.

Brain : a Journal of Neurology, 2025

Mutational and clinical spectrum of myofibrillar myopathy in one center from China.

Wang Q et al.

Journal of Neuromuscular Diseases, 2024

Force-induced dephosphorylation activates the cochaperone BAG3 to coordinate protein homeostasis and membrane traffic.

Ottensmeyer J et al.

Current Biology : Cb, 2024

Universal Adapter Protein Bag3 and Small Heat Shock Proteins.

Zamotina MA et al.

Biochemistry. Biokhimiia, 2024

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.

de Fuenmayor-Fernández de la Hoz CP et al.

Journal of Neurology, 2024

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.

Nallamilli BRR et al.

Annals of Clinical and Translational Neurology, 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

The chaperone-assisted selective autophagy complex dynamics and dysfunctions.

Tedesco B et al.

Autophagy, 2023

BAG3: Nature's Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue.

Brenner CM et al.

Cells, 2023

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

Qu HQ et al.

Journal of the American Heart Association, 2022

The role of BAG3 in dilated cardiomyopathy and its association with Charcot-Marie-Tooth disease type 2.

Yerabandi N et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2022

Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.

Xie Y et al.

European Journal of Neurology, 2021

Next-Generation Sequencing Technologies and Neurogenetic Diseases.

Sun H et al.

Life (basel, Switzerland), 2021

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

Adriaenssens E et al.

Scientific Reports, 2020

BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease.

Fu J et al.

Journal of Neurology, 2020

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

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

A Crucial Role for the Protein Quality Control System in Motor Neuron Diseases.

Cristofani R et al.

Frontiers in Aging Neuroscience, 2020

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks.

Meister-Broekema M et al.

Nature Communications, 2018

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

Shy M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

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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."