CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.
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A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiencyThe molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersThe syndrome of 17,20 lyase deficiencyHuman cytochrome p450c17: single step purification and phosphorylation of serine 258 by protein kinase a.Congenital adrenal hyperplasia and P450 oxidoreductase deficiency.Clinical, biochemical, and molecular characterization of macronodular adrenocortical hyperplasia of the zona reticularis: a new syndrome.Catalytically relevant electrostatic interactions of cytochrome P450c17 (CYP17A1) and cytochrome b5.A-ring modified steroidal azoles retaining similar potent and slowly reversible CYP17A1 inhibition as abiraterone.Xenopus laevis CYP17 regulates androgen biosynthesis independent of the cofactor cytochrome b5.Why human cytochrome P450c21 is a progesterone 21-hydroxylase.Clinical and molecular review of atypical congenital adrenal hyperplasiaThe diverse chemistry of cytochrome P450 17A1 (P450c17, CYP17A1).Synthesis of halogenated pregnanes, mechanistic probes of steroid hydroxylases CYP17A1 and CYP21A2.The next 150 years of congenital adrenal hyperplasia.A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene.Minor activities and transition state properties of the human steroid hydroxylases cytochromes P450c17 and P450c21, from reactions observed with deuterium-labeled substrates.Human cytochromes P450 in health and diseaseThe action of cytochrome b(5) on CYP2E1 and CYP2C19 activities requires anionic residues D58 and D65.Substrate-modulated cytochrome P450 17A1 and cytochrome b5 interactions revealed by NMR.Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.Biochemical factors governing the steady-state estrone/estradiol ratios catalyzed by human 17beta-hydroxysteroid dehydrogenases types 1 and 2 in HEK-293 cells.Hypospadias and variants in genes related to sex hormone biosynthesis and metabolism.Two surfaces of cytochrome b5 with major and minor contributions to CYP3A4-catalyzed steroid and nifedipine oxygenation chemistries.Epoxidation activities of human cytochromes P450c17 and P450c21.Cytochrome b5 Activates the 17,20-Lyase Activity of Human Cytochrome P450 17A1 by Increasing the Coupling of NADPH Consumption to Androgen Production.Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency.Two CYP17 genes in the South African Angora goat (Capra hircus) - the identification of three genotypes that differ in copy number and steroidogenic output.Comparison of the 17 alpha-hydroxylase/C17,20-lyase activities of porcine, guinea pig and bovine P450c17 using purified recombinant fusion proteins containing P450c17 linked to NADPH-P450 reductase.Effect of the metabolic syndrome on male reproductive function: a case-controlled pilot study.The in vitro modulation of steroidogenesis by inflammatory cytokines and insulin in TM3 Leydig cells.Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency.Functional Identification of Compound Heterozygous Mutations in the Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency
P2860
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P2860
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh
2003年學術文章
@zh-hant
name
CYP17 mutation E305G causes is ...... ly altering substrate binding.
@en
type
label
CYP17 mutation E305G causes is ...... ly altering substrate binding.
@en
prefLabel
CYP17 mutation E305G causes is ...... ly altering substrate binding.
@en
P2093
P2860
P356
P1476
CYP17 mutation E305G causes is ...... ly altering substrate binding.
@en
P2093
Daniel P Sherbet
Dov Tiosano
Kerri M Kwist
Richard J Auchus
Zeev Hochberg
P2860
P304
48563-48569
P356
10.1074/JBC.M307586200
P407
P577
2003-09-22T00:00:00Z