[HTML][HTML] Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia
C Jones, RE Hammer, WP Li, JC Cohen… - Journal of Biological …, 2003 - ASBMB
Autosomal recessive hypercholesterolemia (ARH) is a genetic form of hypercholesterolemia
that clinically resembles familial hypercholesterolemia (FH). As in FH, the rate of clearance
of circulating low density lipoprotein (LDL) by the LDL receptor (LDLR) in the liver is
markedly reduced in ARH. Unlike FH, LDL uptake in cultured fibroblasts from ARH patients
is normal or only slightly impaired. The gene defective in ARH encodes a putative adaptor
protein that has been implicated in linking the LDLR to the endocytic machinery. To …
that clinically resembles familial hypercholesterolemia (FH). As in FH, the rate of clearance
of circulating low density lipoprotein (LDL) by the LDL receptor (LDLR) in the liver is
markedly reduced in ARH. Unlike FH, LDL uptake in cultured fibroblasts from ARH patients
is normal or only slightly impaired. The gene defective in ARH encodes a putative adaptor
protein that has been implicated in linking the LDLR to the endocytic machinery. To …