Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

N Huang, AV Pandey, V Agrawal, W Reardon… - The American Journal of …, 2005 - cell.com
P450 oxidoreductase (POR) is the obligatory flavoprotein intermediate that transfers
electrons from reduced nicotinamide adenine dinucleotide phosphate (NADPH) to all …

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 …

Adrenal corticosteroid biosynthesis, metabolism, and action

W Arlt, PM Stewart - Endocrinology and Metabolism Clinics, 2005 - endo.theclinics.com
Adrenal corticosteroids are essential for life, and an appreciation of the mechanisms
underpinning their synthesis, secretion, and mode of action in normal physiology is essential …

Basic concepts and recent developments in human steroid hormone biosynthesis

HK Ghayee, RJ Auchus - Reviews in Endocrine and Metabolic Disorders, 2007 - Springer
The biosynthesis of steroid hormones requires the coordinated expression of the enzymes
that comprise the pathways via which specific hormones are synthesized. These pathways …

Inhibitors of testosterone biosynthetic and metabolic activation enzymes

L Ye, ZJ Su, RS Ge - Molecules, 2011 - mdpi.com
The Leydig cells of the testis have the capacity to biosynthesize testosterone from
cholesterol. Testosterone and its metabolically activated product dihydrotestosterone are …

Mechanisms in endocrinology: rare defects in adrenal steroidogenesis

WL Miller - European journal of endocrinology, 2018 - academic.oup.com
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders of adrenal
steroidogenesis that impair cortisol synthesis, with compensatory increases in ACTH leading …

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) …

The adrenal cortex and its disorders

WL Miller, CE Flück, DT Breault, BJ Feldman - Sperling Pediatric …, 2021 - Elsevier
The adrenal cortex produces dozens of steroids having varying degrees of glucocorticoid,
mineralocorticoid, and androgenic activity. Cortisol, the principal glucocorticoid, and …

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 …

Androgen biosynthesis from cholesterol to DHEA

WL Miller - Molecular and cellular endocrinology, 2002 - Elsevier
Androgens and estrogens are made from dehydroepiandrosterone (DHEA), which is made
from cholesterol via four steps. First, cholesterol enters the mitochondria with the assistance …