Associated Papers
Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National LIPIGEN Registry.
D'Erasmo L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2025
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
Apolipoprotein A-V gene therapy for disease prevention / treatment: a critical analysis.
Forte TM et al.
Journal of Biomedical Research, 2016
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
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
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
[Impact of apolipoprotein A5 on cardiovascular risk. Genetic and environmental modulation].
Sotos-Prieto M et al.
Revista Medica De Chile, 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
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
Strong linkage disequilibrium and association of -1131T>C and c.553G>T polymorphisms of the apolipoprotein A5 gene with hypertriglyceridemia in a Japanese population.
Matsunaga A et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 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
APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.
Calandra S et al.
Current Opinion in Lipidology, 2006
Is apolipoprotein A5 a novel regulator of triglyceride-rich lipoproteins?
Jakel H et al.
Annals of Medicine, 2006
Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.
Marçais C et al.
The Journal of Clinical Investigation, 2005
The functional interaction on in vitro gene expression of APOA5 SNPs, defining haplotype APOA52, and their paradoxical association with plasma triglyceride but not plasma apoAV levels.
Palmen J et al.
Biochimica Et Biophysica Acta, 0
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
Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk.
Thériault S et al.
Journal of Clinical Lipidology, 0
Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Ariza MJ et al.
Journal of Clinical Lipidology, 0
Variability of longitudinal triglyceride phenotype in patients heterozygous for pathogenic APOA5 variants.
Perera SD et al.
Journal of Clinical Lipidology, 0