The modular adaptor protein autosomal recessive hypercholesterolemia (ARH) promotes low density lipoprotein receptor clustering into clathrin-coated pits
R Garuti, C Jones, WP Li, P Michaely, J Herz… - Journal of Biological …, 2005 - ASBMB
Autosomal recessive hypercholesterolemia is characterized by a cell type-specific defect in
low density lipoprotein receptor (LDLR) endocytosis. LDLR-mediated uptake of LDL is
impaired in the liver, but not in fibroblasts of subjects with this disorder. The disease is
caused by mutations in ARH, which encodes a putative adaptor protein that interacts with
the cytoplasmic tail of the LDLR, phospholipids, and two components of the clathrin
endocytic machinery, clathrin and adaptor protein-2 (AP-2) in vitro. To determine the …
low density lipoprotein receptor (LDLR) endocytosis. LDLR-mediated uptake of LDL is
impaired in the liver, but not in fibroblasts of subjects with this disorder. The disease is
caused by mutations in ARH, which encodes a putative adaptor protein that interacts with
the cytoplasmic tail of the LDLR, phospholipids, and two components of the clathrin
endocytic machinery, clathrin and adaptor protein-2 (AP-2) in vitro. To determine the …
