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Article

Deletion of GPIHBP1 causing severe chylomicronemia.

Journal of inherited metabolic disease - 1 May 2012

Rios Jonathan J, Shastry Savitha, Jasso Juan, Hauser Natalie, Garg Abhimanyu, Bensadoun André, Cohen Jonathan C, Hobbs Helen H

Abstract excerpt

Lipoprotein lipase (LPL) is a hydrolase that cleaves circulating triglycerides to release fatty acids to the surrounding tissues. The enzyme is synthesized in parenchymal cells and is transported to its site of action on the capillary endothelium by glycophosphatidylinositol (GPI)-anchored high-density lipoprotein-binding protein 1 (GPIHBP1). Inactivating mutations in LPL; in its cofactor, apolipoprotein (Apo)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22008945
DOI: 10.1007/s10545-011-9406-5
PMCID: PMC3319888

Genes

GPIHBP1
LPL
GPI

Provenance

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletion of GPIHBP1 causing severe chylomicronemia.PMID 22008945Read ↗

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

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

Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1.Semantic proximity Read ↗

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

Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1.Semantic proximity Read ↗

Successful Management of a 29-Day-Old Infant with Severe Hyperlipidemia from a Novel Homozygous Variant of GPIHBP1 GeneSemantic 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 ↗

Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novelGPIHBP1mutationSemantic proximity Read ↗

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

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

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

Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemiaSemantic proximity Read ↗

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