Associated Papers
A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review.
Sustar U et al.
Frontiers in Genetics, 2022
Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis.
Birrane G et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Structural Capacitance in Protein Evolution and Human Diseases.
Li C et al.
Journal of Molecular Biology, 2018
Chylomicronaemia--current diagnosis and future therapies.
Brahm AJ et al.
Nature Reviews. Endocrinology, 2015
Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene.
Berge KE et al.
Atherosclerosis, 2014
The g.-469G>A polymorphism in the GPIHBP1 gene promoter is associated with hypertriglyceridemia and has an additive effect on the risk conferred by LPL defective alleles.
Guay SP et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2013
Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD.
Yamamoto H et al.
Journal of Atherosclerosis and Thrombosis, 2013
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.
Surendran RP et al.
Journal of Internal Medicine, 2012
The complex genetic basis of plasma triglycerides.
Johansen CT et al.
Current Atherosclerosis Reports, 2012
Deletion of GPIHBP1 causing severe chylomicronemia.
Rios JJ et al.
Journal of Inherited Metabolic Disease, 2012
Allelic and phenotypic spectrum of plasma triglycerides.
Johansen CT et al.
Biochimica Et Biophysica Acta, 2012
Comparative studies of glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1: evidence for a eutherian mammalian origin for the GPIHBP1 gene from an LY6-like gene.
Holmes RS et al.
3 Biotech, 2012
Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia.
Johansen CT et al.
Circulation. Cardiovascular Genetics, 2012
GPIHBP1, an endothelial cell transporter for lipoprotein lipase.
Young SG et al.
Journal of Lipid Research, 2011
GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.
Charrière S et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation.
Coca-Prieto I et al.
Journal of Internal Medicine, 2011
Genetic bases of hypertriglyceridemic phenotypes.
Johansen CT et al.
Current Opinion in Lipidology, 2011
An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia.
Johansen CT et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2011
GPIHBP1 and the processing of triglyceride-rich lipoproteins.
Beigneux AP
Clinical Lipidology, 2010
Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.
Franssen R et al.
Circulation. Cardiovascular Genetics, 2010
Hypertriglyceridemia: phenomics and genomics.
Hegele RA et al.
Molecular and Cellular Biochemistry, 2009
Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.
Beigneux AP et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2009
Genetics and molecular biology: proprotein convertase subtilisin/kexin type 9 and LDL receptor--an intriguing story.
Calandra S et al.
Current Opinion in Lipidology, 2008
Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution.
Gin P et al.
Biochimica Et Biophysica Acta, 2007
Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650).
Wang J et al.
Lipids in Health and Disease, 2007
Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis.
Ariza MJ et al.
Journal of Clinical Lipidology, 0
Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1.
Patni N et al.
Journal of Clinical Lipidology, 0
Characterizing familial chylomicronemia syndrome: Baseline data of the APPROACH study.
Blom DJ et al.
Journal of Clinical Lipidology, 0