Key result
GPIHBP1 C89F and G175R mutations cause severe hyperchylomicronemia by impairing membrane targeting and LPL binding.
Population
376 hyperchylomicronemic patients without mutations on the LPL, APOC2, or APOA5 gene, including two probands…
Design
Other
Authors
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Advances GPIHBP1 variant research in hyperchylomicronemia; leaves open clinical screening utility pending larger validation studies.
Observational (n=376)
The identification of C89F and G175R mutations in GPIHBP1 highlights the critical role of this protein in triglyceride-rich lipoprotein metabolism and the mechanisms underlying severe hyperchylomicronemia.
Charrière et al. (2011) conducted an observational in Severe Hyperchylomicronemia (n=376). GPIHBP1 C89F and G175R mutations was evaluated on Phenotypic expression and functional consequences. GPIHBP1 C89F and G175R mutations cause severe hyperchylomicronemia by impairing membrane targeting and LPL binding.
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