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Article

Mutation in FBXO32 causes dilated cardiomyopathy through up-regulation of ER-stress mediated apoptosis

16 Jul 2021

Abstract excerpt

Endoplasmic reticulum (ER) stress induction of cell death is implicated in cardiovascular diseases. Sustained activation of ER-stress induces the unfolded protein response (UPR) pathways, which in turn activate three major effector proteins. We previously reported a missense homozygous mutation in FBXO32 (MAFbx, Atrogin-1) causing advanced heart failure by impairing autophagy. In the present study, we performed...

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PMID: 34272480
DOI: 10.1038/s42003-021-02391-9

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