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Article

Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.

Arteriosclerosis, thrombosis, and vascular biology - 1 Jun 2009

Beigneux Anne P, Franssen Remco, Bensadoun André, Gin Peter, Melford Kristan, Peter Jorge, Walzem Rosemary L, Weinstein Michael M, Davies Brandon S J, Kuivenhoven Jan A, Kastelein John J P, Fong Loren G, Dallinga-Thie Geesje M, Young Stephen G

Abstract excerpt

OBJECTIVE: GPIHBP1 is an endothelial cell protein that binds lipoprotein lipase (LPL) and chylomicrons. Because GPIHBP1 deficiency causes chylomicronemia in mice, we sought to determine whether some cases of chylomicronemia in humans could be attributable to defective GPIHBP1 proteins. METHODS AN...

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Source

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Identifiers

PMID: 19304573
DOI: 10.1161/ATVBAHA.109.186577
PMCID: PMC2811263

Genes

GPIHBP1
LPL
APOA5
APOC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19304573-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.PMID 19304573Read ↗

Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1Semantic proximity Read ↗

<i>GPIHBP1</i> Missense Mutations Often Cause Multimerization of GPIHBP1 and Thereby Prevent Lipoprotein Lipase BindingSemantic proximity Read ↗

GPIHBP1: an endothelial cell molecule important for the lipolytic processing of chylomicrons.Semantic proximity Read ↗

The GPIHBP1-LPL complex and its role in plasma triglyceride metabolism: Insights into chylomicronemia.Semantic proximity Read ↗

Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650).Semantic proximity Read ↗

A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome.Semantic proximity Read ↗

A novel GPIHBP1 mutation related to familial chylomicronemia syndrome: A series of cases.Semantic proximity Read ↗

GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.Semantic proximity Read ↗

Chylomicronemia from GPIHBP1 autoantibodiesSemantic proximity Read ↗

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.Semantic proximity Read ↗

GPIHBP1 autoantibodies in a patient with unexplained chylomicronemia.Semantic proximity Read ↗

A novel homozygous variant in GPIHBP1: A case series of familial chylomicronemia syndrome from Colombia.Semantic proximity Read ↗

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