JCI - Citations to Cholic Acid Biosynthesis: THE ENZYMATIC DEFECT IN CEREBROTENDINOUS XANTHOMATOSIS

Citations to this article

Cholic Acid Biosynthesis: THE ENZYMATIC DEFECT IN CEREBROTENDINOUS XANTHOMATOSIS

Gerald Salen, … , A. K. Batta, G. S. Tint

Gerald Salen, … , A. K. Batta, G. S. Tint

Published January 1, 1979
Citation Information: J Clin Invest. 1979;63(1):38-44. https://doi.org/10.1172/JCI109275.

View: Text | PDF

Total citations by year

Year:	2017	2012	2011	2010	2008	2006	2005	2003	2002	2001	2000	1999	1997	1996	1995	1994	1993	1992	1991	1990	1989	1988	1987	1986	1985	1984	1983	1982	1981	1980	1979	Total
Citations:	1	3	1	1	1	1	2	1	2	3	1	3	3	1	1	3	2	3	4	1	2	7	4	3	7	4	4	4	5	4	3	85

Citation information

Citations to this article (85)

Title and authors	Publication	Year
Bile acid analysis in human disorders of bile acid biosynthesis FM Vaz, S Ferdinandusse	Molecular Aspects of Medicine	2017
Vitamin D Biology R St-Arnaud, MB Demay	Pediatric Bone	2012
Pediatric Bone M Bastepe, H Jüppner, RV Thakker	Pediatric Bone	2012
Bone-Metabolic Functions and Modulators F Bronner, MC Farach-Carson, HI Roach		2012
Advances in Clinical Chemistry M Mahler	Advances in Clinical Chemistry Volume 54	2011
Cerebrotendinous xanthomatosis: An inborn error in bile acid synthesis with defined mutations but still a challenge I Björkhem, M Hansson	Biochemical and Biophysical Research Communications	2010
Studies in Natural Products Chemistry M Seki	Studies in Natural Products Chemistry	2008
Defects in Bile Acid Biosynthesis-Diagnosis and Treatment KD Setchell, JE Heubi	Journal of Pediatric Gastroenterology and Nutrition	2006
Cytochrome P450 PR de Montellano	Cytochrome P450	2005
Bile Acid Biology and its Therapeutic Implications G Paumgartner, D Keppler, U Leuschner, A Stiehl		2005
Genetic background of cholesterol gallstone disease A Kosters, M Jirsa, AK Groen	Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease	2003
Analytical Chemistry related to Biofunctional Research. Development of an analytical method for intermediates in bile acid biosynthesis by GC/MS T MURAI, K YAMAGUCHI, T YOSHIMURA, SP HUI, T KUROSAWA	BUNSEKI KAGAKU	2002
Selective inhibition of CYP27A1 and of chenodeoxycholic acid synthesis in cholestatic hamster liver Yasushi Matsuzaki, Bernard Bouscarel, Tadashi Ikegami, Akira Honda, Mikio Doy, Susan Ceryak, Sugano Fukushima, Shigemasa Yoshida, Junichi Shoda, Naomi Tanaka	Biochimica et Biophysica Acta	2002
Side Chain Hydroxylations in Bile Acid Biosynthesis Catalyzed by CYP3A Are Markedly Up-regulated in Cyp27 −/− Mice but Not in Cerebrotendinous Xanthomatosis A Honda, G Salen, Y Matsuzaki, AK Batta, G Xu, E Leitersdorf, GS Tint, SK Erickson, N Tanaka, S Shefer	The Journal of biological chemistry	2001
Overexpression of CYP27 in hepatic and extrahepatic cells: role in the regulation of cholesterol homeostasis E Hall, P Hylemon, Z Vlahcevic, D Mallonee, K Valerie, N Avadhani, W Pandak	AJP Gastrointestinal and Liver Physiology	2001
Differences in hepatic levels of intermediates in bile acid biosynthesis between Cyp27−/− mice and CTX A Honda, G Salen, Y Matsuzaki, AK Batta, G Xu, E Leitersdorf, GS Tint, SK Erickson, N Tanaka, S Shefer	Journal of lipid research	2001
Regulation of 25- and 27-hydroxylation side chain cleavage pathways for cholic acid biosynthesis in humans, rabbits, and mice: assay of enzyme activities by high-resolution gas chromatography–mass spectrometry A Honda, G Salen, S Shefer, Y Matsuzaki, G Xu, AK Batta, GS Tint, N Tanaka	Journal of lipid research	2000
Anomalous enantioselectivity in the sharpless asymmetric dihydroxylation reaction of 24-nor-5β-cholest-23-ene-3α,7α,12α-triol: Synthesis of substrates for studies of cholesterol side-chain oxidation NH Ertel, B Dayal, K Rao, G Salen	Lipids	1999
REGULATION OF BILE ACID BIOSYNTHESIS ZR Vlahcevic, WM Pandak, RT Stravitz	Gastroenterology Clinics of North America	1999
Identification of CYP3A4 as the major enzyme responsible for 25-hydroxylation of 5β-cholestane-3α,7α,12α-triol in human liver microsomes C Furster, K Wikvall	Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids	1999
7β-hydroxy bile alcohols: Facile synthesis and 2D 1H NMR studies of 5β-cholestane-3α,7β,12α,25-tetrol B Dayal, NH Ertel, J Padia, KR Rapole, G Salen	Steroids	1997
Rapid hydrogenation of unsaturated sterols and bile alcohols using microwaves B Dayal, NH Ertel, KR Rapole, A Asgaonkar, G Salen	Steroids	1997
Advances in Molecular and Cell Biology KJ Clemetson	Advances in Molecular and Cell Biology	1997
A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family E Okuyama, S Tomita, H Takeuchi, Y Ichikawa	Journal of lipid research	1996
Historical aspects of cerebrotendinous xanthomatosis (CTX) VM Berginer	Journal of the History of the Neurosciences	1995
Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis G Salen, AK Batta, GS Tint, S Shefer	Metabolism	1994
Magnetic resonance imaging in cerebrotendinous xanthomatosis: A prospective clinical and neuroradiological study VM Berginer, J Berginer, AD Korczyn, R Tadmor	Journal of the Neurological Sciences	1994
Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX) KS Kim, S Kubota, M Kuriyama, J Fujiyama, I Björkhem, G Eggertsen, Y Seyama	Journal of lipid research	1994
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin E Leitersdorf, A Reshef, V Meiner, R Levitzki, SP Schwartz, EJ Dann, N Berkman, JJ Cali, L Klapholz, VM Berginer	Journal of Clinical Investigation	1993
Bile alcohol glucuronides: regioselective O-glucuronidation of 5β-cholestane-3α,7α,12α,25-tetrol and 24-nor-5β-cholestane-3α,7α,12α,25-tetrol B Dayal, G Salen, J Padia, S Shefer, GS Tint, G Sasso, TH Williams	Carbohydrate Research	1993
Synthesis of 3α,7α-dihydroxy-5β-cholestan-26-oic acid from 3α,7α,12α-trihydroxy-5β-cholestan-26-oic acid: configuration in the bile of Alligator mississippiensis AK Batta, R Mirchandani, G Salen, S Shefer	Steroids	1992
Bile acid biosynthesis DW Russell, KD Setchell	Biochemistry	1992
Mechanism of degradation of the steroid side chain in the formation of bile acids I Björkhem	Journal of lipid research	1992
Atherogenic risk factors in cerebrotendinous xanthomatosis J Fujiyama, M Kuriyama, S Arima, Y Shibata, K Nagata, S Takenaga, H Tanaka, M Osame	Clinica Chimica Acta	1991
Effects of cholestanol feeding on corneal dystrophy in mice KS Kim, K Kano, T Kasama, I Yasuo, H Yamashita, Y Seyama	Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism	1991
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis J J Cali, C L Hsieh, U Francke, D W Russell	The Journal of biological chemistry	1991
Mutations in the Bile Acid Biosynthetic Enzyme Sterol 27-Hydroxylase Underlie Cerebrotendinous Xanthomatosis* James J. Cali, Chih-Lin Hsieh, Uta Francke, David W. Russell	The Journal of biological chemistry	1991
Use of positive ion fast atom bombardment mass spectrometry for rapid identification of a bile alcohol glucuronide isolated from cerebrotendinous xanthomatosis patients B Dayal, G Salen, GS Tint, S Shefer, SW Benz	Steroids	1990
Chenodeoxycholic acid normalizes elevated lipoprotein secretion and catabolism in cerebrotendinous xanthomatosis GS Tint, H Ginsberg, G Salen, NA Le, S Shefer	Journal of lipid research	1989
Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme S Andersson, DL Davis, H Dahlbäck, H Jörnvall, DW Russell	The Journal of biological chemistry	1989
Bile acid synthesis in man. In vivo activity of the 25-hydroxylation pathway WC Duane, PA Pooler, JN Hamilton	Journal of Clinical Investigation	1988
Vitamin D A Portale, Β Halloran, E Lonergan, R Morris	Vitamin D	1988
Quantitative importance of the 25-hydroxylation pathway for bile acid biosynthesis in the rat WC Duane, I Björkhem, JN Hamilton, SM Mueller	Hepatology	1988
Pregnancy in women with cerebrotendinous xanthomatosis (CTX): High risk condition for fetus and newborn infant? VM Berginer, R Carmi, G Salen, JM Opitz, JF Reynolds	American Journal of Medical Genetics	1988
Levels of 7α-hydroxy-4-cholesten-3-one in plasma reflect rates of bile acid synthesis in man M Axelson, A Aly, J Sjövall	FEBS Letters	1988
The Bile Acids: Chemistry, Physiology, and Metabolism KD Setchell, D Kritchevsky, PP Nair		1988
Cerebrotendinous xanthomatosis: A review of biochemical findings of the patient population in the netherlands BJ Koopman, BG Wolthers, JC van der Molen, W van der Slik, RJ Waterreus, A van Spreeken	Journal of Inherited Metabolic Disease	1988
Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids PT Clayton, JV Leonard, AM Lawson, KD Setchell, S Andersson, B Egestad, J Sjövall	Journal of Clinical Investigation	1987
Low-density lipoprotein metabolism in cerebrotendinous xanthomatosis CM Ballantyne, GL Vega, C East, G Richards, SM Grundy	Metabolism	1987
Neurocutaneous Diseases S Refsum, O Stokke	Neurocutaneous Diseases	1987
Increased plasma bile alcohol glucuronides in patients with cerebrotendinous xanthomatosis: effect of chenodeoxycholic acid AK Batta, G Salen, S Shefer, GS Tint, M Batta	Journal of lipid research	1987
Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis S Skrede, I Björkhem, EA Kvittingen, MS Buchmann, SO Lie, C East, S Grundy	Journal of Clinical Investigation	1986
Increased (23R)-hydroxylase activity in patients suffering from cerebrotendinous xanthomatosis, resulting in (23R)-hydroxylation of bile acids BJ Koopman, BG Wolthers, JC der Molen, GT Nagel, H Rutgers, B Strijtveen, B Kaptein	Biochimica et Biophysica Acta (BBA) - General Subjects	1986
Effect of ursodeoxycholic acid and chenodeoxycholic acid on cholesterol and bile acid metabolism GS Tint, G Salen, S Shefer	Gastroenterology	1986
A novel pathway for biosynthesis of cholestanol with 7 alpha-hydroxylated C27-steroids as intermediates, and its importance for the accumulation of cholestanol in cerebrotendinous xanthomatosis S Skrede, I Björkhem, MS Buchmann, G Hopen, O Fausa	Journal of Clinical Investigation	1985
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 G Salen, S Shefer, GS Tint, G Nicolau, B Dayal, AK Batta	Journal of Clinical Investigation	1985
Laboratory Approaches for Inherited Neurometabolic Diseases EH Kolodny, S Yatziv	Developmental Medicine & Child Neurology	1985
Bile acids in deermice lacking liver alcohol dehydrogenase J Sjövall, SH Andersson, CS Lieber	Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism	1985
Pathological Neurochemistry A Lajtha		1985
Effect of chenodeoxycholic acid on biliary and urinary bile acids and bile alcohols in cerebrotendinous xanthomatosis; monitoring by high performance liquid chromatography AK Batta, S Shefer, M Batta, G Salen	Journal of lipid research	1985
Synthesis and structure of 26 (or 27)-nor-5 beta-cholestane-3 alpha,7 alpha,12 alpha,24S,25 xi-pentol isolated from the urine and feces of a patient with sitosterolemia and xanthomatosis B Dayal, GS Tint, V Toome, AK Batta, S Shefer, G Salen	Journal of lipid research	1985
Formation and Metabolism of Bile Alcohols in Man G Karlaganis, J SjÖVall	Hepatology	1984
Bile Alcohols in Perspective NB Javitt	Hepatology	1984
Cerebrotendinous Xanthomatosis SM Grundy	New England Journal of Medicine	1984
Transformation of 4-cholesten-3-one and 7α-hydroxy-4-cholesten-3-one into cholestanol and bile acids in cerebrotendinous xanthomatosis G Salen, S Shefer, GS Tint	Gastroenterology	1984
Role of the 26-hydroxylase in the biosynthesis of bile acids in the normal state and in cerebrotendinous xanthomatosis. An in vivo study I Björkhem, O Fausa, G Hopen, H Oftebro, JI Pedersen, S Skrede	Journal of Clinical Investigation	1983
Sitosterol and cholesterol metabolism in a patient with coexisting phytosterolemia and cholestanolemia HJ Lin, C Wang, G Salen, K Lam, T Chan	Metabolism	1983
Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography BG Wolthers, M Volmer, J der Molen, BJ Koopman, AE Jager, RJ Waterreus	Clinica Chimica Acta	1983
New Comprehensive Biochemistry S Yamamoto	New Comprehensive Biochemistry	1983
Serum bile acid profiles in cerebrotendinous xanthomatosis T Beppu, Y Seyama, T Kasama, S Serizawa, T Yamakawa	Clinica Chimica Acta	1982
3β-Hydroxysteroid dehydrogenase activity in bovine adrenal cortex mitochondria: conversion of oxygenated 3β-hydroxy-sterols GJ Alsema, HJ Degenhart, J Hoogerbrugge	Journal of Steroid Biochemistry	1982
Case Report Cerebrotendinous Xanthomatosis: A Cause of Cataracts and Tendon Xanthoma M Swartz, KD Burman, G Salen	The American Journal of the Medical Sciences	1982
EEG in Cerebrotendinous Xanthomatosis (CTX) VM Berginer, H Radwan, AD Korczyn, E Kott, G Salen, S Shefer	Clinical Electroencephalography	1982
Abnormal high density lipoproteins in cerebrotendinous xanthomatosis V Shore, G Salen, FW Cheng, T Forte, S Shefer, GS Tint, FT Lindgren	Journal of Clinical Investigation	1981
Synthesis of biological precursors of cholic acid II B Dayal, GS Tint, AK Batta, S Shefer, G Salen	Steroids	1981
Genetics of cerebrotendinous xanthomatosis (CTX): An autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin VM Berginer, D Abeliovich, JM Opitz	American Journal of Medical Genetics	1981
Cerebrotendinous xanthomatosis: defective liver mitochondrial hydroxylation of chenodeoxycholic acid precursors H Oftebro, I Björkhem, FC Størmer, JI Pedersen	Journal of lipid research	1981
Assay of intermediates in bile acid biosynthesis using isotope dilution–mass spectrometry: hepatic levels in the normal state and in cerebrotendinous xanthomatosis I Björkhem, H Oftebro, S Skrede, JI Pedersen	Journal of lipid research	1981
Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid H Oftebro, I Björkhem, S Skrede, A Schreiner, JI Pederson	Journal of Clinical Investigation	1980
Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndrome L Monnens, J Bakkeren, G Parmentier, G Janssen, U van Haelst, F Trijbels, H Eyssen	European Journal of Pediatrics	1980
Bile acid metabolism in cirrhosis TE Patteson, ZR Vlahcevic, CC Schwartz, J Gustafsson, H Danielsson, L Swell	Gastroenterology	1980
Occurrence of bile alcohol glucuronides in bile of patients with cerebrotendinous xanthomatosis T Hoshita, M Yasuhara, M Une, A Kibe, E Itoga, S Kito, T Kuramoto	Journal of lipid research	1980
Preparation of [3β-3H] labeled bile acids and bile alcohols B Dayal, E Bagan, GS Tint, S Shefer, G Salen	Steroids	1979
Cholelithiasis: Review of advances in research RN Redinger	Postgraduate Medicine	1979
Lesions of Bursae, Tendons and Tendon Sheaths EG Bywaters	Clinics in rheumatic diseases	1979

Advertisement