The genetics, pathophysiologx, and management of human deficiencies of P450c17

RJ Auchus - Endocrinology and Metabolism Clinics, 2001 - endo.theclinics.com
P450c17 commands a central role in human steroidogenesis as the qualitative regulator of
steroid hormone flux (Fig. 1). Analysis of P450c17 deficiencies in humans illustrates many …

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency

N Krone, V Dhir, HE Ivison, W Arlt - Clinical endocrinology, 2007 - Wiley Online Library
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders,
which are usually due to inactivating mutations in single enzymes involved in adrenal …

Human cytochrome P450 enzymes

FP Guengerich - Cytochrome P450: structure, mechanism, and …, 2015 - Springer
Abstract The cytochrome P450 (P450) enzymes first attracted interest because of their
relevance to the metabolism of drugs, steroids, and carcinogens. Collectively, the 57 human …

Human cytochrome P450 enzymes

FP Guengerich - Cytochrome P450: structure, mechanism, and …, 2005 - Springer
Much of P450 research has always been done with the view of appUcation to humans, even
when done with experimental animals and microorganisms. Research with the human …

Two Prevalent CYP17 Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase Deficiency

M Costa-Santos, CE Kater, RJ Auchus… - The Journal of …, 2004 - academic.oup.com
We performed molecular genetic analysis of 24 subjects from 19 families with 17-
hydroxylase deficiency in Brazil. Of 7 novel CYP17 mutations, 2 (W406R and R362C) …

Molecular modeling of human P450c17 (17α-hydroxylase/17, 20-lyase): insights into reaction mechanisms and effects of mutations

RJ Auchus, WL Miller - Molecular Endocrinology, 1999 - academic.oup.com
Abstract P450c17 (17α-hydroxylase/17, 20-lyase) catalyzes steroid 17α-hydroxylase and 17,
20-lyase activities in the biosynthesis of androgens and estrogens. These two activities are …

P450c17 Mutations R347H and R358Q Selectively Disrupt 17,20-Lyase Activity by Disrupting Interactions with P450 Oxidoreductase and Cytochrome b5

DH Geller, RJ Auchus, WL Miller - Molecular endocrinology, 1999 - academic.oup.com
Cytochrome P450c17 catalyzes steroid 17α-hydroxylase and 17, 20-lyase activities and
hence is a key enzyme in the production of human glucocorticoids and sex steroids. These …

At the crossroads of steroid hormone biosynthesis: the role, substrate specificity and evolutionary development of CYP17

AA Gilep, TA Sushko, SA Usanov - … et Biophysica Acta (BBA)-Proteins and …, 2011 - Elsevier
Cytochrome P450s play critical roles in the metabolism of various bioactive compounds.
One of the crucial functions of cytochrome P450s in Chordata is in the biosynthesis of steroid …

The syndrome of 17, 20 lyase deficiency

WL Miller - The Journal of Clinical Endocrinology & Metabolism, 2012 - academic.oup.com
Context: Disorders of steroidogenesis have been instrumental in delineating human
steroidogenic pathways. Each genetic disorder seemed to correspond to a different …

Differential inhibition of 17α-hydroxylase and 17, 20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency

ELT Van Den Akker, JW Koper… - The Journal of …, 2002 - academic.oup.com
The microsomal enzyme cytochrome P450c17 is an important regulator of steroidogenesis.
The enzyme has two functions: 17α-hydroxylase and 17, 20-lyase activities. These functions …