Science -- Sign In Accumulation of Dietary Cholesterol in sitosterolemia Caused by Mutations in Adjacent ABC Transporters. Knut E. Berge, 1 * Hui Tian http://www.sciencemag.org/cgi/content/short/290/5497/1771
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Science -- Sign In cellular machinery that allows selective absorption of animal sterols but not those of plants is defective in a rare, recessive disorder called sitosterolemia. http://www.sciencemag.org/cgi/content/full/290/5497/1709
Extractions: You do not have access to this item: Full Text : Allayee et al., BIOCHEMISTRY: An Absorbing Study of Cholesterol, Science You are on the site via Free Public Access. What content can I view with Free Public Access If you have a personal user name and password, please login below. SCIENCE Online Sign In Options For Viewing This Content User Name Password this computer. Help with Sign In If you don't use cookies, sign in here Join AAAS and subscribe to Science for free full access. Sign Up More Info Register for Free Partial Access including abstracts, summaries and special registered free full text content. Register More Info Pay per Article 24 hours for US $10.00 from your current computer Regain Access to a recent Pay per Article purchase Need More Help? Can't get past this page? Forgotten your user name or password? AAAS Members activate your FREE Subscription
Applied Genetics News: Sitosterolemia Genes Discovered You are Here Articles Applied Genetics News Dec, 2000 Article. sitosterolemia Genes Discovered. Applied Genetics News, Dec, 2000. Tularik, Inc. http://www.findarticles.com/cf_dls/m0DED/5_21/68655482/p1/article.jhtml
Extractions: Tularik, Inc. (Two Corporate Dr., South San Francisco, CA 94080; Tel: 650/825-7000, Fax: 650/825-7303; Website: www.tularik.com) researchers, working in collaboration with scientists from the University of Texas Southwestern Medical Center, have discovered two genes responsible for a rare human genetic disorder called sitosterolemia. Patients with sitosterolemia have excessive absorption and inadequate excretion into the bile, which results in dangerously high cholesterol levels. The discovery of the sitosterolemia genes was reported in the December 1 issue of Science. The newly discovered genes encode two previously unknown protein molecules that are members of the class of ATP-binding cassette (ABC) transporter proteins. The proteins, ABCG5 and ABCG8, bind cholesterol in the liver and small intestine. In the intestines, the proteins block absorption of dietary cholesterol. In the liver, the proteins help excrete cholesterol into bile.
Sitosterolemia Human protein Q9H222 ATP-binding cassette, sub-family G, member Tian,H., Graf,GA, Yu,L., Grishin,NV, Schultz,J., Kwiterovich,P., Shan,B., Barnes,R., Hobbs,HH, Accumulation of dietary cholesterol in sitosterolemia caused by http://www.directory.net/Health/Conditions_and_Diseases/Nutrition_and_Metabolism
Extractions: Sitosterolemia Directory: Guide to Sitosterolemia sites on the internet. Search Engines: Google Yahoo MSN FindWhat ... City Guides Health Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats ... Sitosterolemia Websites Sitosterolemia http://www.musc.edu/frd/p200047ncs.htm
Results Page 5. Title, A mouse model of sitosterolemia absence of Abcg8/sterolin2 results in failure to secrete biliary cholesterol. Author, Klett http://eprints.bo.cnr.it/cgi-bin/show.pl?code=20323&arch=90
Mind-Brain.com atorvastatin therapy. sitosterolemia in ABCtransporter G5-deficient mice is aggravated on activation of the liver-X receptor. link http://mind-brain.com/abstracts.php?qa=G5
Metabolism & Nutrition Lipids Online Slides sitosterolemia, betasitosterolemia, plant (new) sitosterolemia A Rare Genetic Disorder Leads to Insight into an http://icarus.med.utoronto.ca/meaghan2/JuHo/MetNut/MetNut_show.asp?week_s=2&cat=
Gene-Disease Set For Chromosome 2 GeneCardABCG5, 2p21, Q9H222, ABG5_HUMAN, ATPbinding cassette, sub-family G, member 5 (Sterolin-1). defects in abcg5 are a cause of sitosterolemia mim210250 http://www.ebi.ac.uk/proteome/HUMAN/chromosomes/disease_set/2.html
Extractions: Gene-Disease set for chromosome , according to the UniProt Knowledgebase. [Alternative view: Complete gene set Gene HGNC GDB GeneCard Location Acc Nr Entry Name Description Disease MIM PubMed Ensembl InterPro CluSTr STRING Bile salt export pump (ATP-binding cassette, sub-family B, member 11). defects in abcb11 are the cause of progressive familial intrahepatic cholestasis 2 (pfic2) [mim:601847]. pfic2 is an inherited liver disease of childhood which is characterized by cholestasis and normal serum gamma-glutamyltransferase activity. defects in abcb11 are also found in cases of chronic intrahepatic cholestasis without obvious familial history of chronic liver disease ATP-binding cassette, sub-family G, member 5 (Sterolin-1). defects in abcg5 are a cause of sitosterolemia [mim:210250]; also known as phytosterolemia or shellfish sterolemia. it is a rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease
Tularik Inc. Investor Relations working in collaboration with scientists from the University of Texas Southwestern Medical Center, have identified the genes that cause sitosterolemia. http://www.corporate-ir.net/ireye/ir_site.zhtml?ticker=TLRK&script=410&layout=-6
Extractions: By Dustin Mark Familial hypercholesterolemia (FH) is caused by a mutation in the gene for the LDL receptor, which is instrumental in the removal of LDL particles from the blood. These individuals tend to have cholesterol levels around 300 mg/dL. The frequency of FH heterozygotes (who have half of their LDL receptors damaged) is roughly 1:500. Like all people with high cholesterol, these individuals are increasingly subject to atherosclerosis, often manifested in coronary heart disease. FH homozygotes, in whom LDL receptors are defective, have such severe hypercholesterolemia (around 650 mg/dL), that they often die from heart attacks in early childhood. The second most common disease in the group, familial ligand defective apoB-100, is less severe than FH and has an incidence around 1:1000 for heterozygotes. This disease results from a defect in the ligand for the LDL receptor, apoB-100 (found in LDL particles), which decreases the ability of LDL receptor to clear LDL particles from the blood, resulting in abnormally elevated LDL serum levels. The most recently discovered disease, autosomal recessive hyperchosterolemia (ARH), is described in the May 18 issue of Science. Briefly, this disease approaches the severity of homozygous FH, and is distinguishable primarily at the genetic level. Children and adolescents with ARH often suffer from premature coronary heart disease and usually have massive deposits of LDL-derived cholesterol in the skin. Unlike with FH, heterozygotes for ARH have completely normal cholesterol levels. The disease-causing mutations occur in a gene that codes for a previously undescribed cytosolic protein, aptly named ARH. This protein seems to function in either the internalization of the LDL receptor, an act that is necessary for the removal of LDL particles from the blood, or the recycling of the LDL receptor back to the surface of cells. Either way, the lack of functional ARH prevents cells from extracting LDL particles from the circulation.
Extractions: Advanced Search document.write(hashTable['Home'].parentMenu) Home Research Center for Human Nutrition (2001 Spring) Key Players In Cholesterol Absorption Uncovered By UT Southwestern Researchers Home About the Center Facilities Research ... CHN Newsletters process by which the body regulatescholesterol and other sterols from the diet. It also provides new insights into the way the body acquires and gets rid of cholesterol and other sterols. The disorder, sitosterolemia, is characterized by hyperabsorption of cholesterol and plant sterols. This leads to an excessive presence of cholesterol in the blood, which ultimately causes premature heart disease. "The main benefit of this study is that we identified a key protein in two very poorly understood pathwaysthe mechanisms by which cholesterol and other sterols are secreted into the bile," said Dr. Helen Hobbs, professor of internal medicine and molecular genetics and senior author of the study. "Now we have a handle on one of the key players in cholesterol absorption." she said. Until this discovery, which was published in Science , the key proteins involved in the regulation of cholesterol absorption and its secretion into the bile were not known, said Dr. Hobbs, director of the Eugene McDermott Center for Human Growth and Development.
Dr. Hobbs , Dr. Helen Hobbs, Dr. Helen Hobbs genes defective in two autosomal recessive forms of severe hypercholesterolemia, autosomal recessive hypercholesterolemia (ARH) and sitosterolemia, which are http://www8.utsouthwestern.edu/UTSW/FacDir/CDA/FindAFaculty/Results/FacDir_FacSe
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