Article
Mutating a conserved cysteine in GPIHBP1 reduces amounts of GPIHBP1 in capillaries and abolishes LPL binding.
Journal of lipid research - 1 Jul 2017
Allan Christopher M, Jung Cris J, Larsson Mikael, Heizer Patrick J, Tu Yiping, Sandoval Norma P, Dang Tiffany Ly P, Jung Rachel S, Beigneux Anne P, de Jong Pieter J, Fong Loren G, Young Stephen G
Abstract excerpt
Mutation of conserved cysteines in proteins of the Ly6 family cause human disease-chylomicronemia in the case of glycosylphosphatidylinositol-anchored HDL binding protein 1 (GPIHBP1) and paroxysmal nocturnal hemoglobinuria in the case of CD59. A mutation in a conserved cysteine in CD59 prevented the protein from reaching the surface of blood cells. In contrast, mutation of conserved cysteines in human GPIHBP1 had...
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