Treatment of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome reproduced in rats by BM 15.766.

[1]  R. Kelley,et al.  Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. , 1995, American journal of medical genetics.

[2]  G. Tint,et al.  Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome. , 1995, Journal of lipid research.

[3]  T. Parker,et al.  Unexpected inhibition of cholesterol 7 alpha-hydroxylase by cholesterol in New Zealand white and Watanabe heritable hyperlipidemic rabbits. , 1995, The Journal of clinical investigation.

[4]  G. Ness,et al.  Regulation of 3-hydroxy-3-methylglutaryl-coenzyme A reductase activity in the rat ileum: effects of bile acids and lovastatin. , 1994, Metabolism: clinical and experimental.

[5]  M. Wilson,et al.  Dietary cholesterol and downregulation of cholesterol 7 alpha-hydroxylase and cholesterol absorption in African green monkeys. , 1994, The Journal of clinical investigation.

[6]  J. Opitz,et al.  RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations. , 1994, American journal of medical genetics.

[7]  T. Buie,et al.  Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. , 1994, American journal of medical genetics.

[8]  G. Ness,et al.  Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase gene expression by sterols and nonsterols in rat liver. , 1994, Archives of biochemistry and biophysics.

[9]  G Salen,et al.  Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. , 1994, The New England journal of medicine.

[10]  G. Ness,et al.  Different feedback regulation of hepatic cholesterol and bile acid synthesis by glycodeoxycholic acid in rabbits. , 1993, Gastroenterology.

[11]  J. Dietschy,et al.  Role of liver in the maintenance of cholesterol and low density lipoprotein homeostasis in different animal species, including humans. , 1993, Journal of lipid research.

[12]  G. Ness,et al.  Differing effects of cholesterol and taurocholate on steady state hepatic HMG-CoA reductase and cholesterol 7 alpha-hydroxylase activities and mRNA levels in the rat. , 1992, Journal of lipid research.

[13]  G. Ness,et al.  Glycocholic acid and glycodeoxycholic acid but not glycoursocholic acid inhibit bile acid synthesis in the rabbit. , 1992, Gastroenterology.

[14]  J. Cuthbert,et al.  Regulation of hepatic sterol metabolism in the rat. Parallel regulation of activity and mRNA for 7 alpha-hydroxylase but not 3-hydroxy-3-methylglutaryl-coenzyme A reductase or low density lipoprotein receptor. , 1992, The Journal of biological chemistry.

[15]  G. Ness,et al.  Feedback regulation of hepatic 3-hydroxy-3-methylglutaryl-CoA reductase activity by dietary cholesterol is not due to altered mRNA levels. , 1991, The Journal of biological chemistry.

[16]  G. Ness,et al.  A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. , 1990, The Journal of clinical investigation.

[17]  G. Tint,et al.  Feedback regulation of bile-acid synthesis in the rat. Differing effects of taurocholate and tauroursocholate. , 1990, The Journal of clinical investigation.

[18]  D. McNamara,et al.  The effect of abnormal plasma and cellular sterol content and composition on low density lipoprotein uptake and degradation by monocytes and lymphocytes in sitosterolemia with xanthomatosis. , 1988, Metabolism: clinical and experimental.

[19]  P. Chomczyński,et al.  Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. , 1987, Analytical biochemistry.

[20]  I. Björkhem.  Effects of mevinolin in rat liver: evidence for a lack of coupling between synthesis of hydroxymethylglutaryl-CoA reductase and cholesterol 7 alpha-hydroxylase activity. , 1986, Biochimica et biophysica acta.

[21]  F. H. Schmidt,et al.  The effects of BM 15.766, an inhibitor of 7-dehydrocholesterol delta 7-reductase, on cholesterol biosynthesis in primary rat hepatocytes. , 1986, Biochemical pharmacology.

[22]  P. Edwards,et al.  Alterations in the rates of synthesis and degradation of rat liver 3-hydroxy-3-methylglutaryl coenzyme A reductase produced by cholestyramine and mevinolin. , 1983, The Journal of biological chemistry.

[23]  C. Roux,et al.  Teratogenic action and embryo lethality of AY 9944R. Prevention by a hypercholesterolemia-provoking diet. , 1979, Teratology.

[24]  D. S. Lin,et al.  Cholesterol metabolism and placental transfer in the pregnant Rhesus monkey. , 1972, The Journal of clinical investigation.

[25]  P. Leder,et al.  Purification of biologically active globin messenger RNA by chromatography on oligothymidylic acid-cellulose. , 1972, Proceedings of the National Academy of Sciences of the United States of America.

[26]  J. Opitz,et al.  A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES. , 1964, The Journal of pediatrics.

[27]  D. Dvornik,et al.  A Novel Mode of Inhibition of Cholesterol Biosynthesis , 1963 .

[28]  Oliver H. Lowry,et al.  Protein measurement with the Folin phenol reagent. , 1951, The Journal of biological chemistry.

[29]  W. Connor.  A cholesterol deficiency syndrome in humans. , 1995, The Journal of clinical investigation.

[30]  M. Seller,et al.  Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. , 1995, Journal of lipid research.

[31]  G. Ness,et al.  Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats. , 1995, The Journal of clinical investigation.

[32]  R. Fears,et al.  Cholesterol 7α-Hydroxylase (7α-Monooxygenase) , 1986 .