Publications by authors named "Hirankorn Karnman"
Article Synopsis
- GPIHBP1 is a protein that helps transport lipoprotein lipase (LPL) across microvascular endothelial cells, relying on its Ly6 domain to bind LPL.
- A point mutation in GPIHBP1 (Ser-107 to Cys) was found in a patient and two siblings with severe hypertriglyceridemia, leading to very low levels of LPL in their blood.
- The mutation caused GPIHBP1 to form disulfide-linked dimers and multimers instead of functioning as a monomer, preventing it from effectively binding LPL and contributing to the hypertriglyceridemia.
