ArticleJournal of lipid research2013
Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia.
Article in Journal of lipid research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 43 citations in OpenAlex.
- Clinical and functional evidence supporting pathogenicity of a novel APOA5 variant in familial chylomicronemia syndrome.Archives of endocrinology and metabolism · 2026Article
- Effects of fenofibrate on angiopoietin-like 3/4/8 proteins and apolipoprotein A5.Journal of lipid research · 2026Article
- A neutralizing APOA5 monoclonal antibody reduces amounts of lipoprotein lipase in capillaries and triggers hypertriglyceridemia.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- APOA5 deficiency causes hypertriglyceridemia by reducing amounts of lipoprotein lipase in capillaries.Journal of lipid research · 2024Review
- Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report.Journal of medical case reports · 2024Article
- Carboxyl-terminal sequences in APOA5 are important for suppressing ANGPTL3/8 activity.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Identification of shared genetic risks underlying metabolic syndrome and its related traits in the Korean population.Frontiers in genetics · 2024Article
- Pancreatitis as a Main Consequence ofInternational journal of genomics · 2024Article
- Evolutionary Action-Machine Learning Model Identifies Candidate Genes Associated With Early-Onset Coronary Artery Disease.Journal of the American Heart Association · 2023Article
- A common variant in 11q23.3 associated with hyperlipidemia is mediated by the binding and regulation of GATA4.NPJ genomic medicine · 2022Article
- Triglyceride and Triglyceride-Rich Lipoproteins in Atherosclerosis.Frontiers in molecular biosciences · 2022Review
- Functional recombinant apolipoprotein A5 that is stable at high concentrations at physiological pH.Journal of lipid research · 2020Article
- Association of BUD13-ZNF259-APOA5-APOA1-SIK3 cluster polymorphism in 11q23.3 and structure of APOA5 with increased plasma triglyceride levels in a Korean population.Scientific reports · 2019Article
- Regulatory Roles of Sortilin and SorLA in Immune-Related Processes.Frontiers in pharmacology · 2018Review
- Update on APOA5 Genetics: Toward a Better Understanding of Its Physiological Impact.Current atherosclerosis reports · 2017Review
- Sorting receptor SORLA: cellular mechanisms and implications for disease.Cellular and molecular life sciences : CMLS · 2017Review
- The pathophysiology of intestinal lipoprotein production.Frontiers in physiology · 2015Review
- Sortilin and lipoprotein metabolism: making sense out of complexity.Current opinion in lipidology · 2014Review
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
During the diagnosis of three unrelated patients with severe hypertriglyceridemia, three APOA5 mutations [p.(Ser232_Leu235)del, p.Leu253Pro, and p.Asp332ValfsX4] were found without evidence of concomitant LPL, APOC2, or GPIHBP1 mutations. The molecular mechanisms by which APOA5 mutations result in severe hypertriglyceridemia remain poorly understood, and the functional impairment/s induced by these specific mutations was not obvious. Therefore, we performed a thorough structural and functional analysis that included follow-up of patients and their closest relatives, measurement of apoA-V serum concentrations, and sequencing of the APOA5 gene in 200 nonhyperlipidemic controls. Further, we cloned, overexpressed, and purified both wild-type and mutant apoA-V variants and characterized their capacity to activate LPL. The interactions of recombinant wild-type and mutated apoA-V variants with liposomes of different composition, heparin, LRP1, sortilin, and SorLA/LR11 were also analyzed. Finally, to explore the possible structural consequences of these mutations, we developed a three-dimensional model of full-length, lipid-free human apoA-V. A complex, wide array of impairments was found in each of the three mutants, suggesting that the specific residues affected are critical structural determinants for apoA-V function in lipoprotein metabolism and, therefore, that these APOA5 mutations are a direct cause of hypertriglyceridemia.
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