Article
A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol.
BMC medicine - 24 Mar 2004
Klett Eric L, Lu Kangmo, Kosters Astrid, Vink Edwin, Lee Mi-Hye, Altenburg Michael, Shefer Sarah, Batta Ashok K, Yu Hongwei, Chen Jianliang, Klein Richard, Looije Norbert, Oude-Elferink Ronald, Groen Albert K, Maeda Nobuyo, Salen Gerald, Patel Shailendra B
Abstract excerpt
BACKGROUND: Mutations in either of two genes comprising the STSL locus, ATP-binding cassette (ABC)-transporters ABCG5 (encoding sterolin-1) and ABCG8 (encoding sterolin-2), result in sitosterolemia, a rare autosomal recessive disorder of sterol trafficking characterized by increased plasma plant sterol levels. Based upon the genetics of sitosterolemia, ABCG5/sterolin-1 and ABCG8/sterolin-2 are hypothesized to...
Topics
- ATP Binding Cassette Transporter, Subfamily G, Member 5
- ATP Binding Cassette Transporter, Subfamily G, Member 8
- ATP-Binding Cassette Transporters
- Animals
- Bile
- Bile Acids and Salts
- Cholesterol
- Female