Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol Published, JLR Papers in Press, September 18, 2006.
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D. Illingworth | R. Steiner | Julia M Jordan | A. Pappu | W. Connor | L. Merkens | Jennifer A. Penfield | J. Penfield
[1] R. Steiner,et al. The near universal presence of autism spectrum disorders in children with Smith–Lemli–Opitz syndrome , 2006, American journal of medical genetics. Part A.
[2] Ken W. Y. Cho,et al. Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase , 2006, Development.
[3] R. S. Sohal,et al. Effect of coenzyme Q10 intake on endogenous coenzyme Q content, mitochondrial electron transport chain, antioxidative defenses, and life span of mice. , 2006, Free radical biology & medicine.
[4] R. Steiner,et al. A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome Published, JLR Papers in Press, October 28, 2005. , 2006, Journal of Lipid Research.
[5] T. Yoshikawa,et al. Daily profile of plasma %CoQ10 level, a biomarker of oxidative stress, in patients with diabetes manifesting postprandial hyperglycaemia , 2005, Acta Diabetologica.
[6] R. Bootzin,et al. Antioxidant nutrient intake and supplements as potential moderators of cognitive decline and cardiovascular disease in obstructive sleep apnea. , 2005, Sleep medicine reviews.
[7] H. Yu,et al. Recent insights into the Smith–Lemli–Opitz syndrome , 2005, Clinical genetics.
[8] B. Wong,et al. Ubiquinol: a potential biomarker for tissue energy requirements and oxidative stress. , 2005, Clinica chimica acta; international journal of clinical chemistry.
[9] N. Javitt. Oxysteroids: a new class of steroids with autocrine and paracrine functions , 2004, Trends in Endocrinology & Metabolism.
[10] A. Pesce,et al. Age-related changes in plasma coenzyme Q10 concentrations and redox state in apparently healthy children and adults. , 2004, Clinica chimica acta; international journal of clinical chemistry.
[11] Toyoaki Tenzen,et al. Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia. , 2004, Genes & development.
[12] S. Fliesler,et al. Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome Published, JLR Papers in Press, November 1, 2003. DOI 10.1194/jlr.M300232-JLR200 , 2004, Journal of Lipid Research.
[13] G. Dallner,et al. Metabolism and function of coenzyme Q. , 2004, Biochimica et biophysica acta.
[14] G. Herman. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. , 2003, Human molecular genetics.
[15] P. A. Kurup,et al. ISOPRENOID PATHWAY-RELATED MEMBRANE DYSFUNCTION IN NEUROPSYCHIATRIC DISORDERS , 2003, The International journal of neuroscience.
[16] D. S. Lin,et al. Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion DOI 10.1194/jlr.M200163-JLR200 , 2002, Journal of Lipid Research.
[17] J. Liao. Isoprenoids as mediators of the biological effects of statins. , 2002, The Journal of clinical investigation.
[18] M. Nowaczyk,et al. Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. , 2001, American journal of medical genetics.
[19] J. Sheff. Smith-Lemli-Opitz syndrome: a genetic disorder with pedal manifestations. , 2001, Journal of the American Podiatric Medical Association.
[20] D. Lütjohann,et al. Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. , 2001, Journal of lipid research.
[21] C. Maslen,et al. Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. , 2000, American journal of medical genetics.
[22] D. S. Lin,et al. Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production. , 2000, Journal of lipid research.
[23] F. Porter. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. , 2000, Molecular genetics and metabolism.
[24] R. Steiner,et al. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. , 2000, Molecular genetics and metabolism.
[25] G. Dallner,et al. Regulation of ubiquinone metabolism. , 2000, Free radical biology & medicine.
[26] S. Krag. The importance of being dolichol. , 1998, Biochemical and biophysical research communications.
[27] R. Kelley,et al. A new face for an old syndrome. , 1997, American journal of medical genetics.
[28] R. Laaksonen,et al. The effects of anabolic androgenic steroids on serum ubiquinone and dolichol levels among steroid abusers. , 1996, Metabolism: clinical and experimental.
[29] R. Kelley,et al. 3-Methylglutaconic Acidemia in Smith-Lemli-Opitz Syndrome , 1995, Pediatric Research.
[30] J. Ericsson,et al. Age-dependent changes in rat liver prenyltransferases , 1994, Mechanisms of Ageing and Development.
[31] D. Illingworth,et al. Diurnal variations in the plasma concentrations of mevalonic acid in patients with abetalipoproteinaemia , 1994, European journal of clinical investigation.
[32] J. Ericsson,et al. Branch-point reactions in the biosynthesis of cholesterol, dolichol, ubiquinone and prenylated proteins. , 1994, Biochimica et biophysica acta.
[33] K. Ameno,et al. A study of urinary dolichols as a biological marker for alcohol abuse. Report 1: Quantitation of urinary dolichols by high performance liquid chromatography after BondElutC18 (500 mg) cartridge extraction. , 1994, Arukoru kenkyu to yakubutsu izon = Japanese journal of alcohol studies & drug dependence.
[34] K. Kristensson,et al. Lipid Composition in Different Regions of the Brain in Alzheimer's Disease/Senile Dementia of Alzheimer's Type , 1992, Journal of neurochemistry.
[35] J. Ericsson,et al. Substrate specificity of cis-prenyltransferase in rat liver microsomes. , 1992, The Journal of biological chemistry.
[36] M. Salaspuro,et al. Serum dolichols in different clinical conditions. , 1991, Scandinavian journal of clinical and laboratory investigation.
[37] D. Illingworth,et al. Reduction in plasma low-density lipoprotein cholesterol and urinary mevalonic acid by lovastatin in patients with heterozygous familial hypercholesterolemia. , 1989, Metabolism: clinical and experimental.
[38] R. Gregg,et al. Increased urinary mevalonic acid excretion in patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia. , 1989, Atherosclerosis.
[39] M. Nakanishi,et al. Multivalent control of 3-hydroxy-3-methylglutaryl coenzyme A reductase. Mevalonate-derived product inhibits translation of mRNA and accelerates degradation of enzyme. , 1988, The Journal of biological chemistry.
[40] B. Kabakoff,et al. Depression of hepatic dolichol levels by cholesterol feeding. , 1987, Journal of lipid research.
[41] R. Kennedy Keller,et al. Quantitation of dolichyl phosphate and dolichol in major organs of the rat as a function of age , 1986, Lipids.
[42] T. Parker,et al. Plasma mevalonate as a measure of cholesterol synthesis in man. , 1984, The Journal of clinical investigation.
[43] P. Edwards,et al. Determination of mevalonate in blood plasma in man and rat. Mevalonate "tolerance" tests in man. , 1979, Journal of lipid research.
[44] P. O'Brien,et al. Coenzyme Q cytoprotective mechanisms. , 2004, Methods in enzymology.
[45] G. Dallner,et al. Investigation of regulatory mechanisms in coenzyme Q metabolism. , 2004, Methods in enzymology.
[46] V. Pallottini,et al. Age-related changes of isoprenoid biosynthesis in rat liver and brain , 2004, Biogerontology.
[47] Turpelnen. Liquid-Chromatographic Determination of Dolichols in Urine , 2004 .
[48] T. Yamagami,et al. High-performance liquid chromatography of coenzyme Q-related compounds and its application to biological materials. , 1985, Journal of chromatography.
[49] B. Landau,et al. Shunt pathway of mevalonate metabolism. , 1985, Methods in enzymology.
[50] G. Elmberger,et al. Distribution of dolichol in human and rabbit blood. , 1985, Acta chemica Scandinavica. Series B: Organic chemistry and biochemistry.