Article

Targeting Unfolded Protein Response reverts ER stress and ER Ca2+ homeostasis in cardiomyocytes expressing the pathogenic variant of Lamin A/C R321X.

2023-02-22

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>We previously demonstrated that an Italian family affected by a severe dilated cardiomyopathy (DCM) with history of sudden deaths at young age, carried a mutation in the Lmna gene encoding for a truncated variant of the Lamin A/C protein (LMNA), R321X. When expressed in heterologous systems, such variant accumulates into the endoplasmic reticulum (ER), inducing t...

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Literature Corpus work: a05e22bb-82c8-50de-87b0-6787fc17aac4
DOI: 10.21203/rs.3.rs-2583422/v1

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