Article
A novel cellular phenotype for familial hypercholesterolemia due to a defect in polarized targeting of LDL receptor.
Cell - 1 Jun 2001
Koivisto U M, Hubbard A L, Mellman I
Abstract excerpt
Basolateral targeting of membrane proteins in polarized epithelial cells typically requires cytoplasmic domain sorting signals. In the familial hypercholesterolemia (FH)-Turku LDL receptor allele, a mutation of glycine 823 residue affects the signal required for basolateral targeting in MDCK cells. We show that the mutant receptor is mistargeted to the apical surface in both MDCK and hepatic epithelial cells,...
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