BACKGROUND Gallstone disease is associated with p.D19H of ABCG8 as well as alterations of cholesterol and bile acid metabolism. However, molecular mechanisms have not been fully elucidated. It is important to understand the link between the sterol transporters ABCG5/8 and NPC1L1 and intestinal cholesterol absorption as well as de novo synthesis in gallstone patients stratified according to 19H ...

We describe the clinical, biochemical and molecular genetic features of a Chinese family with sitosterolemia, mainly manifested by hematologic abnormalities. The clinical features of three patients were analyzed. Their plasma sterol levels were measured, and ABCG5 and ABCG8 genes sequenced to search for the causative mutation. The main clinical features of these patients were hemolysis and macr...

Intestinal cholesterol absorption is modulated by transport proteins in enterocytes. Cholesterol uptake from intestinal lumen requires several proteins on apical brush-border membranes, including Niemann-Pick C1-like 1 (NPC1L1), scavenger receptor B-I, and CD36, whereas two ATP-binding cassette half transporters, ABCG5 and ABCG8, on apical membranes work together for cholesterol efflux back to ...