Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.P209Q
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BAG3

NM_004281.4:p.P209Q

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

Universal Adapter Protein Bag3 and Small Heat Shock Proteins.

Zamotina MA et al.

Biochemistry. Biokhimiia, 2024

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

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

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

Meister-Broekema M et al.

Nature Communications, 2018

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

Stürner E et al.

Frontiers in Molecular Neuroscience, 2017

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

Semmler AL et al.

Orphanet Journal of Rare Diseases, 2014

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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."