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Article

Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.

Journal of lipid research - 1 Jun 2010

Olivecrona Gunilla, Ehrenborg Ewa, Semb Henrik, Makoveichuk Elena, Lindberg Anna, Hayden Michael R, Gin Peter, Davies Brandon S J, Weinstein Michael M, Fong Loren G, Beigneux Anne P, Young Stephen G, Olivecrona Thomas, Hernell Olle

Abstract excerpt

We investigated a family from northern Sweden in which three of four siblings have congenital chylomicronemia. LPL activity and mass in pre- and postheparin plasma were low, and LPL release into plasma after heparin injection was delayed. LPL activity and mass in adipose tissue biopsies appeared normal. [(35)S]Methionine incorporation studies on adipose tissue showed that newly synthesized LPL was normal in size...

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Share to Adipose Tissue
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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: 20026666
DOI: 10.1194/jlr.M002717
PMCID: PMC3035517

Genes

LPL
GPIHBP1

Variants

Provenance

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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Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.PMID 20026666Read ↗

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