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Article

Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endothelial dysfunction.

Arteriosclerosis, thrombosis, and vascular biology - 1 Sept 2013

Bidault Guillaume, Garcia Marie, Vantyghem Marie-Christine, Ducluzeau Pierre-Henri, Morichon Romain, Thiyagarajah Kayathri, Moritz Sylviane, Capeau Jacqueline, Vigouroux Corinne, Béréziat Véronique

Abstract excerpt

OBJECTIVE: Some mutations in LMNA, encoding A-type lamins, are responsible for Dunnigan-type-familial partial lipodystrophy (FPLD2), with altered fat distribution and metabolism. The high prevalence of early and severe cardiovascular outcomes in these patients suggests that, in addition to metabolic risk factors, FPLD2-associated LMNA mutations could have a direct role on the vascular wall cells. APPROACH AND...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23846499
DOI: 10.1161/ATVBAHA.113.301933

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endothelial dysfunction.PMID 23846499Read ↗

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