Hepatic or intestinal ABCG5 and ABCG8 are sufficient to block the development of sitosterolemia.
نویسنده
چکیده
منابع مشابه
Sitosterolemia: platelets on high-sterol diet.
S itosterolemia is a rare inherited lipid metabolic disorder characterized by the presence of xanthomas, premature coronary artery disease, and atherosclerotic disease. The hallmark of sitosterolemia is diagnostically elevated plasma levels of dietary plant sterols (eg, sitosterol), which is found in high concentrations in olives, avocados, and pecan nuts. Sitosterolemia is caused by mutations ...
متن کاملLocalization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine
BACKGROUND The molecular mechanisms that regulate the entry of dietary sterols into the body and their removal via hepatobiliary secretion are now beginning to be defined. These processes are specifically disrupted in the rare autosomal recessive disease, Sitosterolemia (MIM 210250). Mutations in either, but not both, of two genes ABCG5 or ABCG8, comprising the STSL locus, are now known to caus...
متن کاملBiliary cholesterol secretion by the twinned sterol half-transporters ABCG5 and ABCG8.
The long wait for a cellular and functional definition of canalicular transporters for biliary cholesterol appears to be over. Articles in this issue of the JCI provide a fascinating account of the cellular itinerary of two murine ATP-binding cassette (ABC) halftransporters from the ribosome to the hepatocyte apical membranes (1) and show that the corresponding human genes, when overexpressed i...
متن کاملPlant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia.
Mutations in either ABCG5 or ABCG8 cause sitosterolemia, an inborn error of metabolism characterized by high plasma plant sterol concentrations. Recently, macrothrombocytopenia was described in a number of sitosterolemia patients, linking hematological dysfunction to disturbed sterol metabolism. Here, we demonstrate that macrothrombocytopenia is an intrinsic feature of murine sitosterolemia. Ab...
متن کاملA mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol
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 h...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of lipid research
دوره 56 2 شماره
صفحات -
تاریخ انتشار 2015