41. Nutrition Research 12 December 2000 Genetics of sitosterolemia revealed. The hope is that some method of upregulatingthese genes can be found to provide a management for sitosterolemia. http://www.everybody.co.nz/nutrition/nutnewsdecember12.html

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42. Health/Conditions_and_Diseases/Nutrition_and_Metabolism_Disorders/Cholesterol_an Health / Conditions_and_Diseases / Nutrition_and_Metabolism_Disorders/ Cholesterol_and_Other_Fats / sitosterolemia. sitosterolemia http://www.health-information-resource.com/Health/Conditions_and_Diseases/Nutrit

Search: Welcome to the health-information-resource.com search portal. Health-information-resource.com is the premiere health and wellness search portal dedicated to providing comprehensive and up-to-date health information. Whether you are a healthcare professional or a healthcare consumer, you are likely to find health, wellness and medical-related information here that is informative and practical. Health-information-resource.com strives to provide the most thorough and reliable health information possible to ensure that every individual and family can better manage their health. Feel free to browse the health-focused directory or conduct a search for your specific wellness-related request. As a healthcare consumer today, you are faced with many important decisions regarding your physical condition. Choosing between hospitals, health care providers, doctors, prescriptions, vitamins, and a variety of other wellness-related choices can be extremely complicated. Finding a single resource that can provide you with all the answers to your health questions may seem like an unbearable task. However, health-information-resource.com can do just that. Our database is updated on a continuous basis with innovative and pertinent content, serving as your guide to reliable health information. Health Sitosterolemia Sitosterolemia A press release with a brief explanation of this disease.

43. DISEASE: Sitosterolemia DISEASE sitosterolemia. Featured Web Pages. sitosterolemia Evaluationat the NIH http//patientrecruitment.nhlbi.nih.gov The National http://disease.bigtome.com/big/page/Sitosterolemia

DISEASE: Sitosterolemia Featured Web Pages Sitosterolemia Evaluation at the NIH - http://patientrecruitment.nhlbi.nih.gov The National Heart, Lung and Blood Institute is actively seeking patients with Sitosterolemia to receive free evaluation as part of clinical research studies. Categories (1-1 of 1) Health: Conditions_and_Diseases: Nutrition_and_Metabolism_Disorders: Cholesterol_and_Other_Fats: Sitosterolemia Web Pages Sitosterolemia A press release with a brief explanation of this disease. - http://www.musc.edu/frd/P200047ncs.htm Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Sitosterolemia Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it. - http://www.intelihealth.com/ipn/pcn/HN/s_r/00196749.htm Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Sitosterolemia Scientists Closer To Locating Gene That May Explain Cholesterol Absorption An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. - http://news.medscape.com/MedscapeWire/1998/09.98/medwire0901.scientists.html

44. Medicalseek - Search Engine For The Healthcare Industry Conditions and DiseasesNutrition and Metabolism DisordersCholesteroland Other Fatssitosterolemia Scientists Closer To Locating http://www.medicalseek.net/Conditions_and_Diseases_Nutrition_and_Metabolism_Diso

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Cholesterol and Other Fats Sitosterolemia Conditions and Diseases:Nutrition and Metabolism Disorders:Cholesterol and Other Fats:Sitosterolemia Scientists Closer To Locating Gene That May Explain Cholesterol Absorption An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. news.medscape.com/MedscapeWire/1998/09.98/m... Sitosterolemia A press release with a brief explanation of this disease. musc.edu/frd/P200047ncs.htm Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it. intelihealth.com/ipn/pcn/HN/s_r/0019674... CATEGORIES ADD A LINK ADVERTISE CONTACT US ... FORUMS

45. Sitosterolemia Information Sites Reviewed sitosterolemia sites, by people who know sitosterolemia and work withsitosterolemia. MEDICALorg.com. Search SPYorg.com (Not sure of spelling? http://www.medicalorg.com/ConditionsandDiseases/NutritionandMetabolismDisorders/

MEDICALorg.com Search SPYorg.com (Not sure of spelling? Use first letters and * such as abc* or abcd* or abcde*) Match:.. All Any Format: Long Short Search Words: Top Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Sitosterolemia Sitosterolemia - A press release with a brief explanation of this disease. Sitosterolemia - An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Scientists Closer To Locating Gene That May Explain Cholesterol Absorption - An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. Click Here for a fast ON-LINE APPLICATION Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The content of the SPYorg.com directory is based on the Open Directory and is enhanced using Spyorg.com technology. Privacy Statement Add Your Site to SPYorg.com ADVERTISEMENT:

46. A Marked And Sustained Reduction In LDL Sterols By Diet And Cholestyramine In Be A marked and sustained reduction in LDL sterols by diet and cholestyraminein betasitosterolemia. HG Parsons R. Jamal B. Baylis VC Dias D. Roncari http://collection.nlc-bnc.ca/100/201/300/cdn_medical_association/cim/vol-18/0389

A marked and sustained reduction in LDL sterols by diet and cholestyramine in beta-sitosterolemia H.G. Parsons R. Jamal B. Baylis V.C. Dias D. Roncari Department of Pediatrics, Alberta Children's Hospital and Faculty of Medicine, University of Calgary; Department of Internal Medicine, Foothills Hospital, Calgary, Alberta (Original manuscript submitted 26/7/94; received in revised form 18/5/95; accepted 25/5/95) Abstract Clin Invest Med Table of contents: CIM vol. 18, no. 5

47. Acetyltransferase Downregulation of cholesterol biosynthesis in sitosterolemia diminished activitiesof acetoacetyl-CoA thiolase, 3-hydroxy-3methylglutaryl-CoA synthase http://www.mssc.edu/biology/B305/GTS/ss99/neuro/acetyl.htm

Acetyl-CoA C-acetyltransferase 2.3.1.9 By Scott Smith Function Structure Characterization Current Research ... References Function Acetyl-CoA C-acetyltransferase is also known as Acetoacetyl-CoA thiolase (1). Acetyl-CoA C-acetyltransferase is involved in a side reaction between Glycolysis and the Krebb Cycle (3). The pyruvate produced from Glycolysis is converted into Acetyl-CoA. The Acetyl-CoA C-acetyltransferase functions, in an equilibrium reaction, to catalyze the conversion of Acetyl-CoA to Acetoacetyl-CoA, which then forms Acetoacetate and Ketone Bodies (3). Acetyl-CoA C-acetyltransferase catalysis the reaction Acetyl-CoA + Acetyl-CoA CoA + Acetoacetyl-CoA (1). The EC (Enzyme Commission) number for Acetyl-CoA C-acetyltransferase is 2.3.1.9. The 2 indicates that the enzyme is in the class of transferases, the 3 further indicates it is an acyltransferase that transfers acyl groups, and the 1 identifies the enzyme specifically as an acyltransferase (2). The 9 signifies it as the specific enzyme Acetyl-CoA C-acetyltransferase (2). Below is a section of the biochemical pathways map that illustrates the catalytic role of Acetyl-CoA C-acetyltransferase in the conversion of Acetyl-CoA to Acetoacetyl-CoA (3).

48. Reynolds Cardiovascular Clinical Research Center General information, news and publications, library and search directories.Category Health Conditions and Diseases Heart Disease Resources...... fibres. Read more Accumulation of dietary cholesterol in sitosterolemiacaused by mutations in adjacent ABC transporters. In healthy http://cardiology.swmed.edu/reynolds/

Thanks to everyone who attended the Symposium. The Symposium Agenda Pictures of the Symposium Projects Project 1: A Random Population Sample for Preventing ASHD Project 2: Preventing Hypertension and Left Venticular Hypertrophy ... 5: Tissue Engineering of the Heart OTHER LINKS DHDPP DMN Story on DHDPP McDermott Center ... Reynolds Center From Left to Right Ronald Victor, M.D. Scott Grundy, M.D.,Ph.D. Eric N. Olson, Ph.D. Helen Hobbs, M.D. Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo Extracellular elastic fibres provide mechanical elasticity to tissues and contribute towards the processes of organ remodelling by affecting cell–cell signalling. The formation of elastic fibres requires the assembly and crosslinking of tropoelastin monomers, and organization of the resulting insoluble elastin matrix into functional fibres. The molecules and mechanisms involved in this process are unknown. Fibulin-5 (also known as EVEC/DANCE) is an extracellular matrix protein abundantly expressed in great vessels and cardiac valves during embryogenesis, and in many adult tissues including the aorta, lung, uterus and skin, all of which contain abundant elastic fibres.

49. Project 3 Notable Progress was filed for the genes encoding two members of the ATP binding cassette proteinfamily, ABCG5 and ABCG-6, which are mutated in sitosterolemia, an autosomal http://cardiology.swmed.edu/reynolds/progress3.html

PROJECT 3 NOTABLE PROGRESS Patent Application Published Peer Reviewed Journal Articles Peer Reviewed Journal Articles Accepted For Publication Invited Papers Patent Application An application was filed for the genes encoding two members of the ATP binding cassette protein family, ABCG-5 and ABCG-6, which are mutated in sitosterolemia, an autosomal recessive disorder characterized by elevated levels of plant sterols, hypercholesterolemia, atherosclerosis and xanthosmatosis. Inventors include: Robert Barnes, Helen Hobbs, Bei Shan and Hui Tian. Funds supporting this work came from primarily from the NIH (HL20948) and the W. M. Keck Foundation. top Published peer reviewed journal articles Acquati F, Hammer R, Ercoli B, Mooser V, Tao R, Ronicke V, Michalich A, Chiesa G, Taramelli R, Hobbs HH, Muller, H-J. (1999) Transgenic mice expressing a human apolipoprotein(a) allele. J. Lipid Res 40:994-1006 Ruixian T, Acqati F, Marcovina SM, Hobbs, HH (1999) Human growth hormone increases apolipoprotein(a) expression in transgenic mice. Arterioscler Thromb Vasc. Biol.19:2439-2447.

50. Zetia Indications Zetia Dosage Ezetimibe - RxList Monographs Homozygous sitosterolemia. ZETIA is indicated as adjunctive therapyto diet for the reduction of elevated sitosterol and campesterol http://www.rxlist.com/cgi/generic/ezetimibe_ids.htm

Ezetimibe Health News Please, take our 1 second survey! SEASONAL DEPRESSION MENTAL HEALTH ... WEIGHT LOSS INDICATIONS AND USAGE Primary Hypercholesterolemia Monotherapy ZETIA, administered alone is indicated as adjunctive therapy to diet for the reduction of elevated total-C, LDL-C, and Apo B in patients with primary (heterozygous familial and non-familial) hypercholesterolemia. Combination therapy with HMG-CoA reductase inhibitors ZETIA, administered in combination with an HMG-CoA reductase inhibitor, is indicated as adjunctive therapy to diet for the reduction of elevated total-C, LDL-C, and Apo B in patients with primary (heterozygous familial and non-familial) hypercholesterolemia. Homozygous Familial Hypercholesterolemia (HoFH) The combination of ZETIA and atorvastatin or simvastatin, is indicated for the reduction of elevated total-C and LDL-C levels in patients with HoFH, as an adjunct to other lipid-lowering treatments (e.g., LDL apheresis) or if such treatments are unavailable. Homozygous Sitosterolemia ZETIA is indicated as adjunctive therapy to diet for the reduction of elevated sitosterol and campesterol levels in patients with homozygous familial sitosterolemia.

51. Zetia Pharmacology Zetia Studies Ezetimibe - RxList Monographs in pediatric and adolescent patients (ages 9 to 17) has been limited to patientswith homozygous familial hypercholesterolemia (HoFH) or sitosterolemia. http://www.rxlist.com/cgi/generic/ezetimibe_cp.htm

Ezetimibe Health News Please, take our 1 second survey! SEASONAL DEPRESSION MENTAL HEALTH ... WEIGHT LOSS CLINICAL PHARMACOLOGY Background Clinical studies have demonstrated that elevated levels of total cholesterol (total-C), low density lipoprotein cholesterol (LDL-C) and apolipoprotein B (Apo B), the major protein constituent of LDL, promote human atherosclerosis. In addition, decreased levels of high density lipoprotein cholesterol (HDL-C) are associated with the development of atherosclerosis. Epidemiologic studies have established that cardiovascular morbidity and mortality vary directly with the level of total-C and LDL-C and inversely with the level of HDL-C. Like LDL, cholesterol-enriched triglyceride-rich lipoproteins, including very-low-density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), and remnants, can also promote atherosclerosis. The independent effect of raising HDL-C or lowering triglycerides (TG) on the risk of coronary and cardiovascular morbidity and mortality has not been determined. ZETIA reduces total-C, LDL-C, Apo B, and TG, and increases HDL-C in patients with hypercholesterolemia. Administration of ZETIA with an HMG-CoA reductase inhibitor is effective in improving serum total-C, LDL-C, Apo B, TG, and HDL-C beyond either treatment alone. The effects of ezetimibe given either alone or in addition to an HMG-CoA reductase inhibitor on cardiovascular morbidity and mortality have not been established.

52. Open Classes's $p->page_title Open Directory Health Conditions and Diseases Nutrition and Metabolism DisordersCholesterol and Other Fats sitosterolemia Previous Catagory. http://dodo101.ath.cx/expat/odp.php/Health/Conditions_and_Diseases/Nutrition_and

Open Directory Edit Add URL Update URL Advanced ... Svenska Open Directory - Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Sitosterolemia [ Previous Catagory Sitosterolemia - A press release with a brief explanation of this disease. Sitosterolemia - An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Scientists Closer To Locating Gene That May Explain Cholesterol Absorption - An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. (September 1, 1998) Sitosterolemia " search on: All the Web AltaVista Deja Google ... Yahoo Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

53. CHOLGEN.SWM Two specific genes involved in cholesterol...... Library SCI Keywords LIMITS ABSORPTION CRITICAL PATHWAY BILIARY SECRETION sitosterolemiaHOMEOSTASIS http://www.newswise.com/articles/2002/11/CHOLGEN.SWM.html

home scinews mednews biznews ... contact University of Texas Southwestern Medical Center at Dallas 19-Nov-02 Role of Two Genes Involved in Cholesterol Excretion Library: SCI Keywords: LIMITS ABSORPTION CRITICAL PATHWAY BILIARY SECRETION SITOSTEROLEMIA HOMEOSTASIS Description: Two specific genes involved in cholesterol transport are required for the most common way excess cholesterol is expelled from our bodies, according to scientists at UT Southwestern Medical Center at Dallas. (PNAS, Nov-2002) Media Contact: Amy Shields amy.shields@utsouthwestern.edu EMBARGOED UNTIL 4 P.M. CST, MONDAY, NOV. 18, 2002 DALLAS Nov. 18, 2002 Two specific genes involved in cholesterol transport are required for the most common way excess cholesterol is expelled from our bodies, according to scientists at UT Southwestern Medical Center at Dallas. The genes, the researchers report, are essential for efficient secretion of cholesterol into the bile, which is the major route that cholesterol exits the body. The discovery sheds new light on potential therapies that could play an important role in reducing high cholesterol, a major risk factor of atherosclerotic diseases, such as coronary heart disease and stroke. The new findings are reported in this week's issue of the Proceedings of the National Academy of Sciences "The disruption of the two genes, Abcg5 and Abcg8, reveals their crucial role in biliary cholesterol secretion," said Dr. Liqing Yu, an instructor in the Eugene McDermott Center for Human Growth and Development and in molecular genetics and lead author of the study. "In humans and mice, the secretion of cholesterol into the bile is essential for maintaining cholesterol homeostasis and constitutes a major defense against the accumulation of dietary cholesterol in blood and tissues."

54. Member Sign In sitosterolemia is an inherited recessive disorder of the ability to excrete plantsterols from the enterocytes into the intestinal lumen, likely due to a http://www.medscape.com/viewarticle/446217_4

If you are having trouble logging in: In order to use Medscape, your browser must be set to accept "cookies." To find out how to adjust your browser settings, please click here Log In Username Password Forgot your password? Not a Member? Register Now for free access to: MEDLINE (Optimized for Physicians) 200+ Free CME Courses 25 Medical Specialty Sites 100+ Medical Journals Conference Coverage Daily Medical News About Medscape Help WebMD Health

55. Member Sign In In addition, ezetimibe appears to be useful in patients with sitosterolemiaand homozygous familial hypercholesterolemia. However http://www.medscape.com/viewarticle/446217_7

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56. Sterols, Cholesterol And Sterol Esters, Lipids And Lipid Analysis For example, premature atherosclerosis and xanthomatosis occur in two rare lipidstorage diseases, Cerebrotendinous xanthomatosis and sitosterolemia. http://www.lipid.co.uk/infores/Lipids/sterols/

STEROLS STRUCTURE, OCCURRENCE AND ANALYSIS SCRI This document lists topics under the headings - Cholesterol Cholesterol esters Plant sterols and sterol derivatives Cholesterol 3-sulfate Analysis 1. Cholesterol In animal tissues, cholesterol (cholest-5-en-3ß-ol) is by far the most abundant member of a family of polycyclic compounds known as sterols . It can also be described as a polyisoprenoid. Cholesterol has an important role in membranes and in lipid metabolism in general, so is a lipid by any definition. I do not believe that all compounds that are soluble in organic solvents need be considered as lipids. The steroidal hormones, derived biosynthetically from cholesterol, are not lipids in the sense of my definition, and are not discussed further here. Cholesterol is formed biosynthetically from squalene via lanosterol as illustrated - It is a ubiquitous component of animal tissues and of fungi, where much of it is located in the membranes (as much as 30% of some membrane lipids). In plants, it tends to be a minor component only of a complex sterol fraction (see below). It occurs in the free form and esterified to long-chain fatty acids ( cholesterol esters ) in animal tissues, including the plasma lipoproteins. Animals in general synthesise a high proportion of their cholesterol requirement, but they can also ingest and absorb appreciable amounts in their diets. Many invertebrates, including insects, cannot synthesise cholesterol and must receive it from the diet; they can also make much more use of plant sterols than do higher animals.

57. SmartEngine - SmartGuide ( DISEASE : Sitosterolemia ) DISEASE sitosterolemia. Featured Web Pages. previous more categories , WebPages. sitosterolemia A press release with a brief explanation of this disease. http://disease.smartengine.com/shell/smartpage/Sitosterolemia

SmartGuide Web Auctions DISEASE : Sitosterolemia Featured Web Pages Sitosterolemia Evaluation at the NIH - http://patientrecruitment.nhlbi.nih.gov The National Heart, Lung and Blood Institute is actively seeking patients with Sitosterolemia to receive free evaluation as part of clinical research studies. Categories (1-1 of 1) Health: Conditions_and_Diseases: Nutrition_and_Metabolism_Disorders: Cholesterol_and_Other_Fats: Sitosterolemia Web Pages Sitosterolemia A press release with a brief explanation of this disease. - http://www.musc.edu/frd/P200047ncs.htm Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Sitosterolemia Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it. - http://www.intelihealth.com/ipn/pcn/HN/s_r/00196749.htm Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Sitosterolemia Scientists Closer To Locating Gene That May Explain Cholesterol Absorption An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. - http://news.medscape.com/MedscapeWire/1998/09.98/medwire0901.scientists.html

58. The Scientist :: Flipping The Fat-Sensing Switch, Volume 16, Issue 16, Aug. 19, They first discovered ABCG5, and found, surprisingly, that it mapped to the samelocus as the rare genetic disorder sitosterolemia, which affects fat metabolism http://www.the-scientist.com/yr2002/aug/hot_020819.html

Search Advanced Search Previous Next Flipping the Fat-Sensing Switch By Brendan A. Maher Image: Courtesy of David J. Mangelsdorf YIN AND YANG: Although they play opposite roles in bile acid production, these RXR heterodimers synergistically modulate cholesterol absorption and transport. When the molecular basis of Tangier disease was discovered in 1999, researchers lined up to study this orphan genetic disorder. Patients with Tangier have a propensity for heart disease and atherosclerosis, making this rare malady a model for some pressing health problems found in industrialized nations. Following close behind the discovery of the Tangier gene were two studies, now deemed Hot Papers, that examined some of the molecular mechanisms upstream of the ATP-binding cassette A1 (ABCA1) involved in cholesterol transport and defective in patients with Tangier. One in vitro study demonstrated an orphan nuclear hormone receptor that senses the presence of cholesterol and turns on The second paper showed how molecules activating this gene and related pathways can block absorption of dietary cholesterol in mice. No one missed the obvious therapeutic applications, but figuring out how safely to flip the fat-sensing switch continues to elude them.

59. Untitled Plant sterols are poorly absorbed by the human intestine, but individuals whoare homozygous for a rare genetic disease, sitosterolemia (also known as http://www.fda.gov/OHRMS/DOCKETS/98fr/100501a.htm

http://www.fda.gov/ dockets/ecomments http://www.fda.gov/dockets/ecomments www.anzfa.gov.au . Dated: September 28, 2001. Margaret M. Dotzel, Associate Commissioner for Policy. [FR Doc. Filed ; 5:03 pm] BILLING CODE 4160- -S

60. Lists.utsouthwestern.edu/pipermail/utswnews/Week-of-Mon-20021118.txt and in the absence of Abcg5 and Abcg8 the compounds accumulate in the body,which leads to a rare inherited disease called sitosterolemia, Yu said. http://lists.utsouthwestern.edu/pipermail/utswnews/Week-of-Mon-20021118.txt

From utswnews@lists.utsouthwestern.edu Mon Nov 18 22:02:35 2002 From: utswnews@lists.utsouthwestern.edu (utswnews@lists.utsouthwestern.edu) Date: Mon, 18 Nov 2002 16:02:35 -0600 Subject: UT Southwestern News Release Nov. 18, 2002 Message-ID: Media Contact: Amy Shields amy.shields@utsouthwestern.edu UT SOUTHWESTERN RESEARCHERS DISCOVER ROLE OF TWO GENES INVOLVED IN CHOLESTEROL EXCRETION DALLAS - Nov. 18, 2002 - Two specific genes involved in cholesterol transport are required for the most common way excess cholesterol is expelled from our bodies, according to scientists at UT Southwestern Medical Center at Dallas. The genes, the researchers report, are essential for efficient secretion of cholesterol into the bile, which is the major route that cholesterol exits the body. The discovery sheds new light on potential therapies that could play an important role in reducing high cholesterol, a major risk factor of atherosclerotic diseases, such as coronary heart disease and stroke. The new findings are reported in this week's issue of the Proceedings of the National Academy of Sciences. "The disruption of the two genes, Abcg5 and Abcg8, reveals their crucial role in biliary cholesterol secretion," said Dr. Liqing Yu, an instructor in the Eugene McDermott Center for Human Growth and Development and in molecular genetics and lead author of the study. "In humans and mice, the secretion of cholesterol into the bile is essential for maintaining cholesterol homeostasis and constitutes a major defense against the accumulation of dietary cholesterol in blood and tissues."

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