Publisher Summary Studies of the cell surface binding, internalization, and metabolism of
low-density lipoprotein (LDL) in cultured cells have provided useful information regarding
the general aspects of receptor-mediated endocytosis. The study of the LDL receptor has
been facilitated by analysis of mutant fibroblasts obtained from human subjects with
disorders of cholesterol metabolism. The most informative cells, obtained from patients with
familial hypercholesterolemia (FH), have defects in the gene encoding the LDL receptor …