Mutations inLPL,APOC2,APOA5,GPIHBP1andLMF1in patients with severe hypertriglyceridaemia

An Increased Burden of Common and Rare Lipid-Associated Risk Alleles Contributes to the Phenotypic Spectrum of Hypertriglyceridemia

(2011) Christopher T. Johansen et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Triglycerides and Cardiovascular Disease

(2011) Michael Miller et al.   CIRCULATION

GPIHBP1 C89F Neomutation and Hydrophobic C-Terminal Domain G175R Mutation in Two Pedigrees with Severe Hyperchylomicronemia

(2011) Sybil Charrière et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Deletion of GPIHBP1 causing severe chylomicronemia

(2011) Jonathan J. Rios et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novelGPIHBP1mutation

(2011) I. Coca-Prieto et al.   JOURNAL OF INTERNAL MEDICINE

GPIHBP1, an endothelial cell transporter for lipoprotein lipase

(2011) Stephen G. Young et al.   JOURNAL OF LIPID RESEARCH

Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1

(2011) C. V. Voss et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare variants in the lipoprotein lipase (LPL) gene are common in hypertriglyceridemia but rare in Type III hyperlipidemia

(2010) D. Evans et al.   ATHEROSCLEROSIS

GPIHBP1 Is Responsible for the Entry of Lipoprotein Lipase into Capillaries

(2010) Brandon S.J. Davies et al.   Cell Metabolism

Chylomicronemia With Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects

(2010) Remco Franssen et al.   Circulation-Cardiovascular Genetics

Pink-creamy whole blood in a 3-month-old infant with a homozygous deletion in the lipoprotein lipase gene

(2010) HJ Avis et al.   CLINICAL GENETICS

Genetic determinants of plasma triglycerides

(2010) Christopher T. Johansen et al.   JOURNAL OF LIPID RESEARCH

Chylomicronemia With a Mutant GPIHBP1 (Q115P) That Cannot Bind Lipoprotein Lipase

(2009) Anne P. Beigneux et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review

(2009) Amit R. Rahalkar et al.   CANADIAN JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY

Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes

(2009) Mandy van Hoek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Highly Conserved Cysteines within the Ly6 Domain of GPIHBP1 Are Crucial for the Binding of Lipoprotein Lipase

(2009) Anne P. Beigneux et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

NovelLMF1Nonsense Mutation in a Patient with Severe Hypertriglyceridemia

(2009) Angelo B. Cefalù et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A quantitative assay measuring the function of lipase maturation factor 1

(2009) Fen Yin et al.   JOURNAL OF LIPID RESEARCH

GPIHBP1 stabilizes lipoprotein lipase and prevents its inhibition by angiopoietin-like 3 and angiopoietin-like 4

(2009) William K. Sonnenburg et al.   JOURNAL OF LIPID RESEARCH

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

(2009) Gunilla Olivecrona et al.   JOURNAL OF LIPID RESEARCH

Intramuscular Administration of AAV1-Lipoprotein Lipase S447X Lowers Triglycerides in Lipoprotein Lipase–Deficient Patients

(2008) Erik S. Stroes et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Effects of Six APOA5 Variants, Identified in Patients With Severe Hypertriglyceridemia, on In Vitro Lipoprotein Lipase Activity and Receptor Binding

(2008) B. Dorfmeister et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Genetic screening of the LPL gene in hypertriglyceridaemic patients

(2008) William T. Wright et al.   ATHEROSCLEROSIS

A diagnostic algorithm for the atherogenic apolipoprotein B dyslipoproteinemias

(2008) Jacqueline de Graaf et al.   Nature clinical practice. Endocrinology & metabolism

Monogenic pediatric dyslipidemias: Classification, genetics and clinical spectrum

(2007) Amit R. Rahalkar et al.   MOLECULAR GENETICS AND METABOLISM