Cyp27a1 - Cytochrome P450 27, Mitochondrial Precursor upregulated in Cyp27-/- mice but not in cerebrotendinous xanthomatosis. features of cerebrotendinous xanthomatosis (CTX) a recessively inherited http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/144420.html
GeneCard For CYP27A1 cerebrotendinous xanthomatosis Human Gene Mutation Database entry for CYP27A1.Medical News (Possibly Related Articles in Doctor s Guide) http://genecards.bcgsc.bc.ca/cgi-bin/carddisp?CYP27A1
Extractions: This Article FREE Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: University Department of Medicine, University of Western Australia, Perth. We examined the phenotypic characteristics, molecular genetics and optimal pharmacological treatment of cerebrotendinous xanthomatosis (CTX) in an English family with combined hyperlipidaemia. The proband presented in adulthood with classical clinical characteristics of CTX, a greater than
Extractions: Project leader: Prof.dr. F.J.M. Gabre«ls Project leader: Prof.dr. G.W.A.M. Padberg Researcher: Drs. J.H. Blok Researcher: Dr.ir. W.N.J.M. Colier Researcher: Dr. G. Drost Researcher: Prof.dr. B.G.M. van Engelen Researcher: Dr. A.A.W.M. Gabre«ls-Festen Researcher: Dr. C.J. Houtman Researcher: Dr. J.G.N. de Jong Researcher: Dr. P.J.H. Jongen Researcher: Drs. E.L. van der Kooi Researcher: Dr. H.J. ter Laak Researcher: Prof.dr. S.L.H. Notermans Researcher: Dr. K. Roeleveld Researcher: Prof.dr.ir. D.F. Stegeman Researcher: Drs. A.S. Verrips Researcher: Drs. H.T.F.M. Verzijl Researcher: Drs. H.M. Vingerhoets Researcher: Dr. O.J.M. Vogels Researcher: Drs. R.A.C. van de Wetering Researcher: Prof.dr. R.A. Wevers
Untitled Document cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessively inheriteddisorder of bile acid synthesis caused by mutations in the sterol http://www2.musc.edu/Graduate/SRD/2004/SRD2004 Abstracts/119.html
CNR-PFI UO FEDERICO Antonio Evoked potentials in cerebrotendinous xanthomatosis and effect induced by SALEN G, FEDERICO A, cerebrotendinous xanthomatosis as a multisystem http://www.aging.cnr.it/uoe/uo2_071.htm
Extractions: Title of research Side effects of drugs on mitochondrial metabolism. In vitro studies on cell lines and in vivo on populations. Minor clinical signs on carriers for dismetabolic neurogenetic disorders. Keywords mitochondria lysosomes carrier dementias Aims Side effect of antidepressant, antiarrythmic, neuroleptic drugs on mitochondrial and lysosomal metabolism in vivo and in vitro. Side effect of chronic use in population studies. The neuropharmacological model will be used for the study of the biochemical pathogenesis of the neurometabolic diseases. Studies of atypical cases of neurometabolic diseases. Evidence of minor clinical signs in carriers of neurometabolic genetic diseases considered as a model of premature ageing. Scientific activity Scientific results Reference
Extractions: var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Children's Health Issues Chapter Hereditary Metabolic Disorders Topics Introduction Amino Acid Metabolism Carbohydrate Metabolism Lipid Metabolism Pyruvate Metabolism Lipid Metabolism Buy The Book Print This Topic Email This Topic Pronunciations amniocentesis apheresis atherosclerosis cerebrotendinous xanthomatosis ... xanthomatosis Fats (lipids) are an important source of energy for the body. The body's store of fat is constantly broken down and reassembled to balance the body's energy needs with the food available. Groups of specific enzymes help the body break down and process fats. Certain abnormalities in these enzymes can lead to the buildup of specific fatty substances that normally would have been broken down by the enzymes. Over time, accumulations of these substances can be harmful to many organs of the body. Disorders caused by the accumulation of lipids are called lipidoses. Other enzyme abnormalities result in the body being unable to properly convert fats into energy. These abnormalities are called fatty acid oxidation disorders.
Extractions: For Researchers For Librarians Authors: Verrips A. ; Hoefsloot L.H. ; Steenbergen G.C.H. ; Theelen J.P. ; Wevers R.A. ; van Engelen B.G.M. ; van den Heuvel L.P.W.J. Source: Brain , Volume 123, Number 5, May 2000, pp. 908-919(12) Publisher: Oxford University Press View Table of Contents full text options Abstract: Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP 27), due to mutations in its gene. In this study we report on mutations in 58 patients with CTX out of 32 unrelated families. Eight of these were novel mutations, two of which were found together with two already known pathogenic mutations. Twelve mutations found in this patient group have been described in the literature. In the patients from 31 families, mutations were found in both alleles. In the literature, 28 mutations in 67 patients with CTX out of 44 families have been described. Pooling our patient group and the patients from the literature together, 37 different mutations in 125 patients out of 74 families were obtained. Identical mutations have been found in families from different ethnic backgrounds. In 41% of all the patients
Extractions: This Article Full Text Full Text (PDF) Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Sawada, N. Articles by Inouye, K. Eur. J. Biochem. FEBS Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xanthomatosis (CTX) Natsumi Sawada Toshiyuki Sakaki Sachiko Kitanaka Shigeaki Kato and Kuniyo Inouye Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Japan; Institute of Molecular and Cellular Biosciences, The University of Tokyo, Japan Correspondence to K. Inouye, Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Sakyo-ku, Kyoto 606-8502, Japan. Fax:+81 75 753 6265, Tel.:+81 75 753 6266, E-mail: We have determined eight types of missense mutants of CYP27B1 from Japanese vitamin D-dependent rickets type I (VDDR-I) patients [Kitanaka, S., Takeyama, K., Murayama, A., Sato, T., Okumura
Extractions: This Article Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Kasama, T. Articles by Seyama, Y. T. Kasama and Y. Seyama We developed a simple quantitative procedure for cholestanol in serum involving reversed phase thin layer chromatography. This procedure was satisfactory with regard to the linearity of the calibration curve in the range of 100 ng to 1,000 ng, recovery and reproducibility. Only 100 microliter of serum was needed for determination of the cholestanol concentration. Prior to thin layer chromatography, cholesterol was converted to alpha- and beta-epoxides with m-chloroperbenzoic acid, which
Extractions: WWW Medical.WebEnds.com Van Bogaert-Scherer-Epstein Disease; Bogaert-Scherer-Epstein Disease, Van; Cerebrotendinous Xanthomatoses; Cerebrotendinous Xanthomatosis; Disease, Van Bogaert-Scherer-Epstein; Van Bogaert Scherer Epstein Disease A lipid storage disease , inherited as an autosomal recessive trait, characterized by xanthomas of the tendons , the white matter of the brain , and the lungs, and by spasticity, ataxia , pyramidal paresis mental retardation dementia , early cataracts, and atherosclerosis. It is associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with the deposition of cholestanol in the central nervous system and myelin of peripheral nerves . The lesions contain cholesterol and dehydro cholesterol . (Dorland, 28th ed)
Karger Publishers cerebrotendinous xanthomatosis is characterized by tendinous xanthomas, progressivecerebellar ataxia, mental retardation, cataracts, and elevated serum http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=
Xanthomatosis Cerebrotendinous Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/GB/xanthomatosis_cerebrotendinous.html
Free Online ICD9/ICD9CM Codes And Medical Dictionary xanthomatosis, cerebrotendinous Van BogaertScherer-Epstein Disease Bogaert-Scherer-Epstein Disease, Van cerebrotendinous Xanthomatoses http://icd9cm.chrisendres.com/index.php?action=dictdtl&recordid=16610
The Human Skeletal Muscle Transcriptional Profile Unigene Entry Hs Cytochrome P450, subfamily XXVIIA (steroid 27hydroxylase, cerebrotendinousxanthomatosis), polypeptide 1. SEE ALSO. LocusLink, 1593. OMIM, 213700 http://telethon.bio.unipd.it/GETProfiles/Skeletal_Muscle/ESTs/Hs.82568.html
