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Article

The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca2+ handling.

Journal of cellular and molecular medicine - 1 Nov 2016

Carmosino Monica, Gerbino Andrea, Schena Giorgia, Procino Giuseppe, Miglionico Rocchina, Forleo Cinzia, Favale Stefano, Svelto Maria

Abstract excerpt

Mutations in the Lamin A/C gene (LMNA), which encodes A-type nuclear Lamins, represent the most frequent genetic cause of dilated cardiomyopathy (DCM). This study is focused on a LMNA nonsense mutation (R321X) identified in several members of an Italian family that produces a truncated protein isoform, which co-segregates with a severe form of cardiomyopathy with poor prognosis. However, no molecular mechanisms...

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Source

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Identifiers

PMID: 27421120
DOI: 10.1111/jcmm.12926
PMCID: PMC5082401

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca2+ handling.PMID 27421120Read ↗

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