Associated Papers
Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report.
Makhmudova U et al.
Journal of Medical Case Reports, 2024
Genetic variation in apolipoprotein A-V in hypertriglyceridemia.
Perera SD et al.
Current Opinion in Lipidology, 2024
Understanding Hypertriglyceridemia: Integrating Genetic Insights.
Alves M et al.
Genes, 2024
Current Data and New Insights into the Genetic Factors of Atherogenic Dyslipidemia Associated with Metabolic Syndrome.
Butnariu LI et al.
Diagnostics (basel, Switzerland), 2023
Comparison of the structure-function properties of wild-type human apoA-V and a C-terminal truncation associated with elevated plasma triglycerides.
Stankov S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Critical Role of SREBP-1c Large-VLDL Pathway in Environment-Induced Hypertriglyceridemia of Apo AV Deficiency.
Takanashi M et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2019
Candidate gene polymorphisms related to lipid metabolism in Asian Indians living in Durban, South Africa.
Maistry T et al.
The Indian Journal of Medical Research, 2018
Apolipoprotein A-V gene therapy for disease prevention / treatment: a critical analysis.
Forte TM et al.
Journal of Biomedical Research, 2016
Hypertriglyceridemia in the genomic era: a new paradigm.
Lewis GF et al.
Endocrine Reviews, 2015
Apolipoprotein A5: Extracellular and Intracellular Roles in Triglyceride Metabolism.
Forte TM et al.
Current Drug Targets, 2015
Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant.
Albers K et al.
Atherosclerosis, 2014
An APOA5 3' UTR variant associated with plasma triglycerides triggers APOA5 downregulation by creating a functional miR-485-5p binding site.
Caussy C et al.
American Journal of Human Genetics, 2014
Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.
Di Filippo M et al.
Plos One, 2014
Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.
Di Filippo M et al.
Plos One, 2014
Influence of apolipoprotein A-V on the metabolic fate of triacylglycerol.
Sharma V et al.
Current Opinion in Lipidology, 2013
Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia.
Mendoza-Barberá E et al.
Journal of Lipid Research, 2013
APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.
Dussaillant C et al.
Bmc Medical Genetics, 2012
Allelic and phenotypic spectrum of plasma triglycerides.
Johansen CT et al.
Biochimica Et Biophysica Acta, 2012
Intrahepatic role of exchangeable apolipoproteins in lipoprotein assembly and secretion.
Sundaram M et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2012
Resequencing the apolipoprotein A5 (APOA5) gene in patients with various forms of hypertriglyceridemia.
Evans D et al.
Atherosclerosis, 2011
Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia.
Pisciotta L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Apolipoprotein A-V; a potent triglyceride reducer.
Nilsson SK et al.
Atherosclerosis, 2011
Type 1 hyperlipoproteinemia and recurrent acute pancreatitis due to lipoprotein lipase antibody in a young girl with Sjogren's syndrome.
Ashraf AP et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Interactions between the APOA5 -1131T>C and the FEN1 10154G>T polymorphisms on ω6 polyunsaturated fatty acids in serum phospholipids and coronary artery disease.
Park JY et al.
Journal of Lipid Research, 2010
Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.
Panagiotou OA et al.
American Journal of Epidemiology, 2010
Apolipoprotein A-V N-terminal domain lipid interaction properties in vitro explain the hypertriglyceridemic phenotype associated with natural truncation mutants.
Wong-Mauldin K et al.
The Journal of Biological Chemistry, 2009
A novel APOA5 splicing mutation IVS2+1g>a in a Japanese chylomicronemia patient.
Okubo M et al.
Atherosclerosis, 2009
Modulation of phenotypic expression of APOA5 Q97X and L242P mutations.
Charrière S et al.
Atherosclerosis, 2009
Determinants of plasma apolipoprotein A-V and APOA5 gene transcripts in humans.
Hahne P et al.
Journal of Internal Medicine, 2008
Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding.
Dorfmeister B et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2008
Intracellular lipid droplet targeting by apolipoprotein A-V requires the carboxyl-terminal segment.
Shu X et al.
Journal of Lipid Research, 2008
Influence of apoA-V gene variants on postprandial triglyceride metabolism: impact of gender.
Olano-Martin E et al.
Journal of Lipid Research, 2008
Hypertriglyceridaemia and low plasma HDL in a patient with apolipoprotein A-V deficiency due to a novel mutation in the APOA5 gene.
Priore Oliva C et al.
Journal of Internal Medicine, 2008
Apoprotein A-V: an important regulator of triglyceride metabolism.
Kluger M et al.
Journal of Inherited Metabolic Disease, 2008
Rare APOA5 mutations--clinical consequences, metabolic and functional effects: an ENID review.
Talmud PJ
Atherosclerosis, 2007
Avian apolipoprotein A-V binds to LDL receptor gene family members.
Dichlberger A et al.
Journal of Lipid Research, 2007
The C terminus of apolipoprotein A-V modulates lipid-binding activity.
Beckstead JA et al.
The Journal of Biological Chemistry, 2007
Update on dyslipidemia.
Garg A et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Evidence for a complex relationship between apoA-V and apoC-III in patients with severe hypertriglyceridemia.
Schaap FG et al.
Journal of Lipid Research, 2006
A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia.
Priore Oliva C et al.
Atherosclerosis, 2006
Identification of lipid binding and lipoprotein lipase activation domains of human apoAV.
Sun G et al.
Chemistry and Physics of Lipids, 2006
Dietary intake of n-6 fatty acids modulates effect of apolipoprotein A5 gene on plasma fasting triglycerides, remnant lipoprotein concentrations, and lipoprotein particle size: the Framingham Heart Study.
Lai CQ et al.
Circulation, 2006
APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.
Calandra S et al.
Current Opinion in Lipidology, 2006
Give me A5 for lipoprotein hydrolysis!
Merkel M et al.
The Journal of Clinical Investigation, 2005
Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.
Marçais C et al.
The Journal of Clinical Investigation, 2005
Association of apolipoprotein A-V concentration with apolipoprotein A5 gene -1131T>C polymorphism and fasting triglyceride levels.
Kim JY et al.
Journal of Clinical Lipidology, 0