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Article

A novel BAG5 variant impairs the ER stress response pathway, causing dilated cardiomyopathy and arrhythmia.

Scientific reports - 25 May 2024

Wongong Rutairat, Kijtawornrat Anusak, Srichomthong Chalurmpon, Tongkobpeth Siraprapa, Od-Ek Phichittra, Assawapitaksakul Adjima, Caengprasath Natarin, Khongphatthanayothin Apichai, Porntaveetus Thantrira, Shotelersuk Vorasuk

Abstract excerpt

Pathogenic BAG5 variants recently linked to dilated cardiomyopathy (DCM) prompt further investigation into phenotypic, mutational, and pathomechanistic aspects. We explored the clinical and molecular characteristics of DCM associated with BAG5 variants, uncovering the consistently severe manifestations of the disease and its impact on the endoplasmic reticulum (ER) stress response. The analysis involved three...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38796549
DOI: 10.1038/s41598-024-62764-y
PMCID: PMC11127938

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