Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

By K. Berge, H. Tian, G. Graf, Liqing Yu, Nick V. Grishin, J. Schultz, P. Kwiterovich, B. Shan, R. Barnes, Helen H. Hobbs. Science, 2000

1,683 citations recorded by the source corpus.

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

Xenobiotic, Bile Acid, and Cholesterol Transporters: Function and Regulation (2010, background): “5) (Berge et al., 2000; Lee et al., 2001b).”
The human ATP-binding cassette (ABC) transporter superfamily. (2001, neutral): “Recently, two half-transporter genes, ABCG5 and ABCG8 were characterized (Berge et al. 2000; Lee et al. 2001), located head-to-head on the human chromosome 2p15-p16, and regulated by the same promoter.”
Transcriptional integration of metabolism by the nuclear sterol-activated receptors LXR and FXR (2012, background): “Loss-of-function mutations in ABCG5 or ABCG8 are responsible for sitosterolaemia, a disease characterized by hypercholesterolaemia, heightened intestinal absorption and reduced biliary excretion of dietary sterol”
Transcriptional regulation of metabolism. (2006, background): “ABCG5 and ABCG8, which are expressed almost exclusively in the liver and small intestine, favor the secretion of sterols from the liver epithelial cells to the bile duct and from the gut epithelial cells to the intestinal lumen (14).”
How proteins move lipids and lipids move proteins (2001, background): “cgi?l=64241">ABCG8 , suggesting they are also, directly or indirectly, sterol translocator”
The human ATP-binding cassette (ABC) transporter superfamily. (2001, neutral): “ABCG5 and G8 (49, 50), have been implicated in the genesis”