Functional dissection of an AP-2 β2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein
SK Mishra, PA Keyel, MA Edeling, AL Dupin… - Journal of Biological …, 2005 - ASBMB
The autosomal recessive hypercholesterolemia (ARH) protein plays a critical role in
regulating plasma low density lipoprotein (LDL) levels. Inherited defects in ARH lead to a
hypercholesterolemia that closely phenocopies that caused by a defective LDL receptor.
The elevated serum LDL-cholesterol levels typical of ARH patients and the pronounced
accumulation of the LDL receptor at the cell surface of hepatocytes in ARH-null mice argue
that ARH operates by promoting the internalization of the LDL receptor within clathrin-coated …
regulating plasma low density lipoprotein (LDL) levels. Inherited defects in ARH lead to a
hypercholesterolemia that closely phenocopies that caused by a defective LDL receptor.
The elevated serum LDL-cholesterol levels typical of ARH patients and the pronounced
accumulation of the LDL receptor at the cell surface of hepatocytes in ARH-null mice argue
that ARH operates by promoting the internalization of the LDL receptor within clathrin-coated …
