APOE gene variants in primary dyslipidemia
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 …
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 …
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 …
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 …
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 …
hyperlipidemia. Objectives: Our objective was to determine the frequency of p. Leu167del …
APOE p. Leu167del mutation in familial hypercholesterolemia
Background Autosomal dominant hypercholesterolemia (ADH) is caused by mutations in the
low density lipoprotein receptor (LDLR), its ligand apoB (APOB) or proprotein convertase …
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
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 …
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 …
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 …
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 …
in APOE with a highly variable phenotype. Current diagnostic lipid-based methods have …