APOA5 frameshift mutation S78fs induces partial nonsense-mediated mRNA decay and predisposition to severe hypertriglyceridemia

Abstract excerpt

Hypertriglyceridemia increases the risk of both atherosclerotic cardiovascular disease and acute pancreatitis. Apolipoprotein A5 ( APOA5 ) is a critical regulator of plasma triglyceride metabolism. Although loss-of-function variants in APOA5 are known to cause severe hypertriglyceridemia, the molecular mechanisms underlying phenotypic variability remain incompletely understood. In this study, we investigated a ped...

Topics

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• Caveolin-1 and cellular processes
• Lipid metabolism and disorders
• Pancreatitis Pathology and Treatment

Identifiers and source

Literature Corpus work

458b59ee-0945-5843-b136-efffee121c22

DOI

10.1186/s40246-026-01029-3