APOE gene variants in primary dyslipidemia

Y Abou Khalil, JP Rabès, C Boileau, M Varret - Atherosclerosis, 2021 - Elsevier
Apolipoprotein E (apoE) is a major apolipoprotein involved in lipoprotein metabolism. It is a
polymorphic protein and different isoforms are associated with variations in lipid and …

Animal models of atherosclerosis–supportive notes and tricks of the trade

A Gisterå, DFJ Ketelhuth, SG Malin… - Circulation …, 2022 - Am Heart Assoc
Atherosclerotic cardiovascular disease is a major cause of death among humans. Animal
models have shown that cholesterol and inflammation are causatively involved in the …

The genetic basis of hypertriglyceridemia

GD Carrasquilla, MR Christiansen… - Current atherosclerosis …, 2021 - Springer
Abstract Purpose of Review Hypertriglyceridemia is a common dyslipidemia associated with
an increased risk of cardiovascular disease and pancreatitis. Severe hypertriglyceridemia …

Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation

M Marduel, K Ouguerram, V Serre… - Human …, 2013 - Wiley Online Library
Apolipoprotein (apo) E mutants are associated with type III hyperlipoproteinemia
characterized by high cholesterol and triglycerides levels. Autosomal dominant …

The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes

A Cenarro, A Etxebarria, I de Castro-Orós… - The Journal of …, 2016 - academic.oup.com
Abstract Context: The p. Leu167del mutation in the APOE gene has been associated with
hyperlipidemia. Objectives: Our objective was to determine the frequency of p. Leu167del …

APOE p. Leu167del mutation in familial hypercholesterolemia

Z Awan, HY Choi, N Stitziel, I Ruel, MA Bamimore… - Atherosclerosis, 2013 - Elsevier
Background Autosomal dominant hypercholesterolemia (ADH) is caused by mutations in the
low density lipoprotein receptor (LDLR), its ligand apoB (APOB) or proprotein convertase …

Familial combined hyperlipidemia: An overview of the underlying molecular mechanisms and therapeutic strategies

E Taghizadeh, RJ Esfehani, A Sahebkar… - Iubmb …, 2019 - Wiley Online Library
Among different types of dyslipidemia, familial combined hyperlipidemia (FCHL) is the most
common genetic disorder, which is characterized by at least two different forms of lipid …

Lipoprotein (a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation

V Marco-Benedí, A Cenarro, M Laclaustra… - Atherosclerosis, 2022 - Elsevier
Background and aims Lipoprotein (a)[Lp (a)] concentration in heterozygous familial
hypercholesterolemia (heFH) is not well established. Whether the genetic defect responsible …

Hyperlipoproteinemia type 3: the forgotten phenotype

PN Hopkins, EA Brinton, MN Nanjee - Current atherosclerosis reports, 2014 - Springer
Abstract Hyperlipoproteinemia type 3 (HLP3) is caused by impaired removal of triglyceride-
rich lipoproteins (TGRL) leading to accumulation of TGRL remnants with abnormal …

Diagnosis of Familial Dysbetalipoproteinemia Based on the Lipid Abnormalities Driven by APOE2/E2 Genotype

AM Bea, A Cenarro, V Marco-Bened… - Clinical …, 2023 - academic.oup.com
Background Familial dysbetalipoproteinemia (FDBL) is a monogenic disease due to variants
in APOE with a highly variable phenotype. Current diagnostic lipid-based methods have …