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Article

Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy.

Journal of cell science - 15 Jul 2016

West Gun, Gullmets Josef, Virtanen Laura, Li Song-Ping, Keinänen Anni, Shimi Takeshi, Mauermann Monika, Heliö Tiina, Kaartinen Maija, Ollila Laura, Kuusisto Johanna, Eriksson John E, Goldman Robert D, Herrmann Harald, Taimen Pekka

Abstract excerpt

Mutation of the LMNA gene, encoding nuclear lamin A and lamin C (hereafter lamin A/C), is a common cause of familial dilated cardiomyopathy (DCM). Among Finnish DCM patients, the founder mutation c.427T>C (p.S143P) is the most frequently reported genetic variant. Here, we show that p.S143P lamin A/C is more nucleoplasmic and soluble than wild-type lamin A/C and accumulates into large intranuclear aggregates in a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27235420
DOI: 10.1242/jcs.184150
PMCID: PMC4958296

Genes

LMNA

Variants

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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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