Mutational analysis of CYP27A1: assessment of 27-hydroxylation of cholesterol and 25-hydroxylation of vitamin D.

[1]  Z. Jia,et al.  Structural motif-based homology modeling of CYP27A1 and site-directed mutational analyses affecting vitamin D hydroxylation. , 2006, Biophysical journal.

[2]  J. Halpert,et al.  Distinct binding of cholesterol and 5β-cholestane-3α,7α,12α-triol to cytochrome P450 27A1 : Evidence from modeling and site-directed mutagenesis studies , 2006 .

[3]  J. Halpert,et al.  CYP3A4 is a vitamin D-24- and 25-hydroxylase: analysis of structure function by site-directed mutagenesis. , 2005, The Journal of clinical endocrinology and metabolism.

[4]  Glenville Jones,et al.  Enzymes involved in the activation and inactivation of vitamin D. , 2004, Trends in biochemical sciences.

[5]  K. Inouye,et al.  Metabolism of vitamin D by human microsomal CYP2R1. , 2004, Biochemical and biophysical research communications.

[6]  W. Miller,et al.  Vitamin D 25-hydroxylase deficiency. , 2004, Molecular genetics and metabolism.

[7]  B. Hollis,et al.  CYP3A4 is a Human Microsomal Vitamin D 25‐Hydroxylase , 2003, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[8]  Jeffrey B. Cheng,et al.  De-orphanization of Cytochrome P450 2R1 , 2003, Journal of Biological Chemistry.

[9]  M. Fuchs.  Bile acid regulation of hepatic physiology: III. Regulation of bile acid synthesis: past progress and future challenges. , 2003, American journal of physiology. Gastrointestinal and liver physiology.

[10]  Jeffrey B. Cheng,et al.  DE-ORPHANIZATION OF CYTOCHROME P450 2R1: A MICROSOMAL VITAMIN D 25-HYDROXYLASE , 2003 .

[11]  Werner Braun,et al.  Membrane-Protein Interactions Contribute to Efficient 27-Hydroxylation of Cholesterol by Mitochondrial Cytochrome P450 27A1* , 2002, The Journal of Biological Chemistry.

[12]  T Sakaki,et al.  Structure-function analysis of CYP27B1 and CYP27A1. Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xanthomatosis (CTX). , 2001, European journal of biochemistry.

[13]  J. Carpten,et al.  Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees. , 2001, Journal of lipid research.

[14]  L. Valiquette,et al.  Expression of CYP27A, a gene encoding a vitamin D‐25 hydroxylase in human liver and kidney , 2001, Clinical endocrinology.

[15]  K. Inouye,et al.  Metabolism of vitamin D3 by human CYP27A1. , 2000 .

[16]  F. Gabreëls,et al.  Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. , 2000, Brain : a journal of neurology.

[17]  K. Inouye,et al.  Metabolism of vitamin D(3) by human CYP27A1. , 2000, Biochemical and biophysical research communications.

[18]  M. Waterman,et al.  An Additional Electrostatic Interaction between Adrenodoxin and P450c27 (CYP27A1) Results in Tighter Binding Than between Adrenodoxin and P450scc (CYP11A1)* , 1999, The Journal of Biological Chemistry.

[19]  Y. Seyama,et al.  A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity. , 1998, Biochemistry.

[20]  M. Waterman,et al.  Activities of Recombinant Human Cytochrome P450c27 (CYP27) Which Produce Intermediates of Alternative Bile Acid Biosynthetic Pathways* , 1998, The Journal of Biological Chemistry.

[21]  Y. Seyama,et al.  Alternative pre-mRNA splicing of the sterol 27-hydroxylase gene (CYP 27) caused by a G to A mutation at the last nucleotide of exon 6 in a patient with cerebrotendinous xanthomatosis (CTX). , 1998, Journal of lipid research.

[22]  K. S. Kim,et al.  Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. , 1997, Journal of lipid research.

[23]  O. Larsson,et al.  Low density lipoprotein (LDL) cholesterol is converted to 27-hydroxycholesterol in human fibroblasts. Evidence that 27-hydroxycholesterol can be an important intracellular mediator between LDL and the suppression of cholesterol production , 1995, The Journal of Biological Chemistry.

[24]  J Deisenhofer,et al.  Structure and function of cytochromes P450: a comparative analysis of three crystal structures. , 1995, Structure.

[25]  G. Jones,et al.  Transfected human liver cytochrome P-450 hydroxylates vitamin D analogs at different side-chain positions. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[26]  M. Waterman,et al.  Direct expression of adrenodoxin reductase in Escherichia coli and the functional characterization. , 1993, Biological & pharmaceutical bulletin.

[27]  A. Federico,et al.  Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism , 1993, Journal of the Neurological Sciences.

[28]  D. Gazit,et al.  Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. , 1993, Metabolism: clinical and experimental.

[29]  Y. Sagara,et al.  Direct expression in Escherichia coli and characterization of bovine adrenodoxins with modified amino‐terminal regions , 1992, FEBS letters.

[30]  D. Russell,et al.  Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. , 1991, The Journal of biological chemistry.

[31]  U. Francke,et al.  Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. , 1991, The Journal of biological chemistry.

[32]  P. K. Smith,et al.  Measurement of protein using bicinchoninic acid. , 1985, Analytical biochemistry.

[33]  J. I. Pedersen,et al.  Subcellular localization of vitamin D3 25-hydroxylase in human liver. , 1984, The Journal of biological chemistry.

[34]  D. Fraser,et al.  ENTEROHEPATIC CIRCULATION OF VITAMIN D: A REAPPRAISAL OF THE HYPOTHESIS , 1984, The Lancet.

[35]  J. I. Pedersen,et al.  Side chain hydroxylation of C27-steroids and vitamin D3 by a cytochrome P-450 enzyme system isolated from human liver mitochondria. , 1981, Journal of lipid research.

[36]  H. DeLuca.  Metabolism of Vitamin D , 1979 .

[37]  T. Omura,et al.  THE CARBON MONOXIDE-BINDING PIGMENT OF LIVER MICROSOMES. II. SOLUBILIZATION, PURIFICATION, AND PROPERTIES. , 1964, The Journal of biological chemistry.