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Article

Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia.

Journal of lipid research - 1 Mar 2013

Mendoza-Barberá Elena, Julve Josep, Nilsson Stefan K, Lookene Aivar, Martín-Campos Jesús M, Roig Rosa, Lechuga-Sancho Alfonso M, Sloan John H, Fuentes-Prior Pablo, Blanco-Vaca Francisco

Abstract excerpt

During the diagnosis of three unrelated patients with severe hypertriglyceridemia, three APOA5 mutations [p.(Ser232_Leu235)del, p.Leu253Pro, and p.Asp332ValfsX4] were found without evidence of concomitant LPL, APOC2, or GPIHBP1 mutations. The molecular mechanisms by which APOA5 mutations result in severe hypertriglyceridemia remain poorly understood, and the functional impairment/s induced by these specific...

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Source

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Identifiers

PMID: 23307945
DOI: 10.1194/jlr.M031195
PMCID: PMC3617940

Genes

APOA5
LPL
APOC2
GPIHBP1
LRP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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