Published in J Lipid Res on July 01, 1975
A 25-hydroxylation pathway of cholic acid biosynthesis in man and rat. J Clin Invest (1976) 1.16
Cholic acid biosynthesis: the enzymatic defect in cerebrotendinous xanthomatosis. J Clin Invest (1979) 1.10
Biosynthesis of bile acids in cerebrotendinous xanthomatosis. Relationship of bile acid pool sizes and synthesis rates to hydroxylations at C-12, C-25, and C-26. J Clin Invest (1985) 0.85
Bile acid synthesis in man. In vivo activity of the 25-hydroxylation pathway. J Clin Invest (1988) 0.80
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med (1994) 5.35
Vaccinia as a model for membrane biogenesis. Virology (1968) 3.73
Hypercholesterolemia accelerates the Alzheimer's amyloid pathology in a transgenic mouse model. Neurobiol Dis (2000) 3.46
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet (2001) 2.84
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet (1993) 2.79
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med (1984) 2.77
Hepatocyte nuclear factor-1alpha is an essential regulator of bile acid and plasma cholesterol metabolism. Nat Genet (2001) 2.73
Interruption of the enterohepatic circulation of bile acids in man: comparative effects of cholestyramine and ileal exclusion on cholesterol metabolism. J Lab Clin Med (1971) 2.15
Metabolism of beta-sitosterol in man. J Clin Invest (1970) 2.15
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) Am J Med Genet (1997) 2.09
Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet (2001) 2.08
A cholesterol-lowering drug reduces beta-amyloid pathology in a transgenic mouse model of Alzheimer's disease. Neurobiol Dis (2001) 2.07
Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. Ann Intern Med (1971) 2.06
Synergism between atracurium and mivacurium compared with that between vecuronium and mivacurium. Anesth Analg (1994) 2.03
Sitosterolemia. J Lipid Res (1992) 2.02
Dietary beta-sitosterol as an internal standard to correct for cholesterol losses in sterol balance studies. J Lipid Res (1968) 1.76
Biliary cholesterol excretion: a novel mechanism that regulates dietary cholesterol absorption. Proc Natl Acad Sci U S A (1998) 1.73
Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. Metabolism (1993) 1.66
A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain. J Clin Invest (1974) 1.63
Use of external shock-wave lithotripsy and adjuvant ursodiol for treatment of radiolucent gallstones. A national multicenter study. Dig Dis Sci (1989) 1.56
7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. J Clin Invest (2001) 1.55
Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. J Clin Invest (1998) 1.55
Absorption of bile acids from the large bowel in man. J Clin Invest (1968) 1.55
The metabolism of cholestanol, cholesterol, and bile acids in cerebrotendinous xanthomatosis. J Clin Invest (1973) 1.50
Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis. J Lipid Res (1989) 1.47
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr (1995) 1.46
Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis. J Lipid Res (1985) 1.43
Biochemical site of regulation of bile acid biosynthesis in the rat. J Lipid Res (1970) 1.40
Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. Gastroenterology (2000) 1.40
Aspirin does not inhibit cholesterol cholelithiasis in two established animal models. Gastroenterology (1991) 1.40
Mechanisms of action of clofibrate on cholesterol metabolism in patients with hyperlipidemia. J Lipid Res (1972) 1.39
7-alpha-hydroxylation of cholestanol by rat liver microsomes. J Lipid Res (1968) 1.38
Acute hemolytic anemia complicating viral hepatitis in patients with glucose-6-phosphate dehydrogenase deficiency. Ann Intern Med (1966) 1.33
Normolipemic tendon and tuberous xanthomas. J Am Acad Dermatol (1981) 1.33
Degradation of steroids in the human gut. J Lipid Res (1983) 1.32
Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis. J Lipid Res (1998) 1.30
Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest (1995) 1.30
Pathophysiology of apolipoprotein E deficiency in mice: relevance to apo E-related disorders in humans. FASEB J (2001) 1.29
Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet (1997) 1.29
Regulatory effects of sterols and bile acids on hepatic 3-hydroxy-3-methylglutaryl CoA reductase and cholesterol 7alpha-hydroxylase in the rat. J Lipid Res (1973) 1.28
Cofactor requiremets for 7 alpha-dehydroxylation of cholic and chenodeoxycholic acid in cell extracts of the intestinal anaerobic bacterium, Eubacterium species V.P.I. 13708. J Lipid Res (1981) 1.22
Ursodeoxycholic acid: a safe and effective agent for dissolving cholesterol gallstones. Ann Intern Med (1982) 1.22
Feedback regulation of bile acid biosynthesis in the rat. J Lipid Res (1969) 1.22
Determination of hepatic 3-hydroxy-3-methylglutaryl CoA reductase activity in man. J Lipid Res (1974) 1.21
Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis. Biochem Med (1975) 1.20
Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis. Effect of chenodeoxycholic acid. N Engl J Med (1987) 1.19
Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype. J Inherit Metab Dis (1998) 1.17
Transformation of chenodeoxycholic acid and ursodeoxycholic acid by human intestinal bacteria. Gastroenterology (1979) 1.17
A 25-hydroxylation pathway of cholic acid biosynthesis in man and rat. J Clin Invest (1976) 1.16
Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia. Arterioscler Thromb (1992) 1.16
Hepatic synthesis of bile acids. Biochemical steps and mechanisms of rate control. Arch Intern Med (1972) 1.15
A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. J Clin Invest (1990) 1.15
Differences in hepatic levels of intermediates in bile acid biosynthesis between Cyp27(-/-) mice and CTX. J Lipid Res (2001) 1.13
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet (1994) 1.12
Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome. J Lipid Res (1995) 1.11
Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis. J Lipid Res (1985) 1.11