Literature DB >> 23632021

Cytochromes p450: roles in diseases.

Irina A Pikuleva1, Michael R Waterman.   

Abstract

The cytochrome P450 superfamily consists of a large number of heme-containing monooxygenases. Many human P450s metabolize drugs used to treat human diseases. Others are necessary for synthesis of endogenous compounds essential for human physiology. In some instances, alterations in specific P450s affect the biological processes that they mediate and lead to a disease. In this minireview, we describe medically significant human P450s (from families 2, 4, 7, 11, 17, 19, 21, 24, 27, 46, and 51) and the diseases associated with these P450s.

Entities:  

Keywords:  Cholesterol Metabolism; Cytochrome P450; Eicosanoid; Enzyme Mutation; Genetic Diseases; Genetic Polymorphism; Inborn Errors of Metabolism; Steroidogenesis

Mesh：

Substances：

Year:  2013        PMID： 23632021      PMCID： PMC3682515          DOI： 10.1074/jbc.R112.431916

Source DB:  PubMed          Journal:  J Biol Chem        ISSN： 0021-9258            Impact factor:   5.157


  90 in total

1.  Vitamin D 25-hydroxylase deficiency.

Authors:  Qing Dong; Walter L Miller
Journal:  Mol Genet Metab       Date:  2004 Sep-Oct       Impact factor: 4.797

2.  White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.

Authors:  Roberta Biancheri; Marianna Ciccolella; Andrea Rossi; Alessandra Tessa; Denise Cassandrini; Carlo Minetti; Filippo M Santorelli
Journal:  Neuromuscul Disord       Date:  2009-01       Impact factor: 4.296

3.  Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7alpha-hydroxylase gene.

Authors:  Isao Ueki; Akihiko Kimura; Atsushi Nishiyori; Huey-Ling Chen; Hajime Takei; Hiroshi Nittono; Takao Kurosawa
Journal:  J Pediatr Gastroenterol Nutr       Date:  2008-04       Impact factor: 2.839

Review 4.  Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.

Authors:  G N Gallus; M T Dotti; A Federico
Journal:  Neurol Sci       Date:  2006-06       Impact factor: 3.307

5.  Genetic polymorphisms and haplotype structures of the CYP4A22 gene in a Japanese population.

Authors:  Masahiro Hiratsuka; Hisayoshi Nozawa; Yuya Katsumoto; Toshiko Moteki; Takamitsu Sasaki; Yumiko Konno; Michinao Mizugaki
Journal:  Mutat Res       Date:  2006-06-27       Impact factor: 2.433

6.  Neurosteroid hydroxylase CYP7B: vivid reporter activity in dentate gyrus of gene-targeted mice and abolition of a widespread pathway of steroid and oxysterol hydroxylation.

Authors:  K Rose; A Allan; S Gauldie; G Stapleton; L Dobbie; K Dott; C Martin; L Wang; E Hedlund; J R Seckl; J A Gustafsson; R Lathe
Journal:  J Biol Chem       Date:  2001-04-04       Impact factor: 5.157

7.  Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

Authors:  Rebecca Schüle; Elisabeth Brandt; Kathrin N Karle; Maria Tsaousidou; Stephan Klebe; Sven Klimpe; Michaela Auer-Grumbach; Andrew H Crosby; Christian A Hübner; Ludger Schöls; Thomas Deufel; Christian Beetz
Journal:  Neurogenetics       Date:  2008-10-15       Impact factor: 2.660

8.  CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

Authors:  Cyril Goizet; Amir Boukhris; Alexandra Durr; Christian Beetz; Jeremy Truchetto; Christelle Tesson; Maria Tsaousidou; Sylvie Forlani; Lucie Guyant-Maréchal; Bertrand Fontaine; João Guimarães; Bertrand Isidor; Olivier Chazouillères; Dominique Wendum; Djamel Grid; Françoise Chevy; Patrick F Chinnery; Paula Coutinho; Jean-Philippe Azulay; Imed Feki; Fanny Mochel; Claude Wolf; Chokri Mhiri; Andrew Crosby; Alexis Brice; Giovanni Stevanin
Journal:  Brain       Date:  2009-05-12       Impact factor: 13.501

9.  Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy.

Authors:  Peter J Tebben; Dawn S Milliner; Ronald L Horst; Peter C Harris; Ravinder J Singh; Yanhong Wu; John W Foreman; Paul R Chelminski; Rajiv Kumar
Journal:  J Clin Endocrinol Metab       Date:  2012-02-15       Impact factor: 5.958

Review 10.  Cytochrome p450 and chemical toxicology.

Authors:  F Peter Guengerich
Journal:  Chem Res Toxicol       Date:  2007-12-06       Impact factor: 3.739
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  28 in total

1.  Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.

Authors:  Dongling Dai; Philippa B Mills; Emma Footitt; Paul Gissen; Patricia McClean; Jens Stahlschmidt; Isabelle Coupry; Julie Lavie; Fanny Mochel; Cyril Goizet; Tatsuki Mizuochi; Akihiko Kimura; Hiroshi Nittono; Karin Schwarz; Peter J Crick; Yuqin Wang; William J Griffiths; Peter T Clayton
Journal:  J Inherit Metab Dis       Date:  2014-09       Impact factor: 4.982

2.  Reconstitution of the In Vitro Activity of the Cyclosporine-Specific P450 Hydroxylase from Sebekia benihana and Development of a Heterologous Whole-Cell Biotransformation System.

Authors:  Li Ma; Lei Du; Hui Chen; Yue Sun; Shan Huang; Xianliang Zheng; Eung-Soo Kim; Shengying Li
Journal:  Appl Environ Microbiol       Date:  2015-07-06       Impact factor: 4.792

3.  Natural low-molecular mass organic compounds with oxidase activity as organocatalysts.

Authors:  Tatsuya Nishiyama; Yoshiteru Hashimoto; Hitoshi Kusakabe; Takuto Kumano; Michihiko Kobayashi
Journal:  Proc Natl Acad Sci U S A       Date:  2014-11-19       Impact factor: 11.205

4.  Conservation of the Enzyme-Coenzyme Interfaces in FAD and NADP Binding Adrenodoxin Reductase-A Ubiquitous Enzyme.

Authors:  Israel Hanukoglu
Journal:  J Mol Evol       Date:  2017-11-24       Impact factor: 2.395

5.  Regio- and stereospecific hydroxylation of various steroids at the 16α position of the D ring by the Streptomyces griseus cytochrome P450 CYP154C3.

Authors:  Takuya Makino; Yohei Katsuyama; Toshihiko Otomatsu; Norihiko Misawa; Yasuo Ohnishi
Journal:  Appl Environ Microbiol       Date:  2013-12-13       Impact factor: 4.792

Review 6.  From cholesterogenesis to steroidogenesis: role of riboflavin and flavoenzymes in the biosynthesis of vitamin D.

Authors:  John T Pinto; Arthur J L Cooper
Journal:  Adv Nutr       Date:  2014-03-01       Impact factor: 8.701

7.  Iron Overload Coordinately Promotes Ferritin Expression and Fat Accumulation in Caenorhabditis elegans.

Authors:  Haizhen Wang; Xue Jiang; Jieyu Wu; Linqiang Zhang; Jingfei Huang; Yuru Zhang; Xiaoju Zou; Bin Liang
Journal:  Genetics       Date:  2016-03-26       Impact factor: 4.562

Review 8.  Resistance to antifungals that target CYP51.

Authors:  Josie E Parker; Andrew G S Warrilow; Claire L Price; Jonathan G L Mullins; Diane E Kelly; Steven L Kelly
Journal:  J Chem Biol       Date:  2014-08-27

9.  RNA-seq-based identification of Star upregulation by islet amyloid formation.

Authors:  Meghan F Hogan; Mark Ziemann; Harikrishnan K N; Hanah Rodriguez; Antony Kaspi; Nathalie Esser; Andrew T Templin; Assam El-Osta; Steven E Kahn
Journal:  Protein Eng Des Sel       Date:  2019-12-13       Impact factor: 1.650

10.  New trends in cytochrome p450 research at the half-century mark.

Authors:  F Peter Guengerich
Journal:  J Biol Chem       Date:  2013-04-30       Impact factor: 5.157
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