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 …
steroid hormone flux (Fig. 1). Analysis of P450c17 deficiencies in humans illustrates many …
Congenital adrenal hyperplasia and P450 oxidoreductase deficiency
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders,
which are usually due to inactivating mutations in single enzymes involved in adrenal …
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 …
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 …
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) …
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 …
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
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 …
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
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 …
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 …
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 …
The enzyme has two functions: 17α-hydroxylase and 17, 20-lyase activities. These functions …