Ontology highlight
ABSTRACT:
SUBMITTER: Franssen R
PROVIDER: S-EPMC2858258 | biostudies-literature | 2010 Apr
REPOSITORIES: biostudies-literature
Franssen Remco R Young Stephen G SG Peelman Frank F Hertecant Jozef J Sierts Jeroen A JA Schimmel Alinda W M AW Bensadoun André A Kastelein John J P JJ Fong Loren G LG Dallinga-Thie Geesje M GM Beigneux Anne P AP
Circulation. Cardiovascular genetics 20100202 2
<h4>Background</h4>Recent studies in mice have established that an endothelial cell protein, glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1), is essential for the lipolytic processing of triglyceride-rich lipoproteins.<h4>Methods and results</h4>We report the discovery of a homozygous missense mutation in GPIHBP1 in a young boy with severe chylomicronemia. The mutation, p.C65Y, replaces a conserved cysteine in the GPIHBP1 lymphocyte antigen 6 domain wit ...[more]