Consequences of POR mutations and polymorphisms

WL Miller, V Agrawal, D Sandee, MK Tee… - Molecular and cellular …, 2011 - Elsevier
P450 oxidoreductase (POR) transports electrons from NADPH to all microsomal cytochrome
P450 enzymes, including steroidogenic P450c17, P450c21 and P450aro. Severe POR …

Isolated 17,20-Lyase Deficiency due to the Cytochrome b5 Mutation W27X

RC Kok, MA Timmerman… - The Journal of …, 2010 - academic.oup.com
Abstract Context: Cytochrome P450c17 (P450c17) is a bifunctional enzyme necessary for
the production of glucocorticoids (17-hydroxylase activity) and sex steroids (17, 20-lyase …

A missense mutation in the human cytochrome b5 gene causes 46, XY disorder of sex development due to true isolated 17, 20 lyase deficiency

J Idkowiak, T Randell, V Dhir, P Patel… - The Journal of …, 2012 - academic.oup.com
Context: Isolated 17, 20 lyase deficiency is commonly defined by apparently normal 17α-
hydroxylase activity but severely reduced 17, 20 lyase activity of the bifunctional enzyme …

Electron transfer partners of cytochrome P450

L Waskell, JJP Kim - Cytochrome P450: structure, mechanism, and …, 2015 - Springer
Abstract NADPH-cytochrome P450 oxidoreductase (POR) is the obligatory flavoprotein
electron donor to microsomal cytochromes P450 (P450). POR is a diflavin protein containing …

P450c17 Deficiency in Brazilian Patients: Biochemical Diagnosis through Progesterone Levels Confirmed by CYP17 Genotyping

RM Martin, CJ Lin, EMF Costa… - The Journal of …, 2003 - academic.oup.com
P450c17 deficiency is an autosomal recessive disorder and a rare cause of congenital
adrenal hyperplasia characterized by hypertension, hypokalemia, and impaired production …

Overcoming persistent dependency on androgen signaling after progression to castration-resistant prostate cancer

M Yamaoka, T Hara, M Kusaka - Clinical Cancer Research, 2010 - AACR
Prostate cancer is the most common form of cancer in males in the United States, and the
second leading cause of cancer death. Initially, most cases of prostate cancer respond well …

Steroidal 5α-reductase and 17α-hydroxylase/17, 20-lyase (CYP17) inhibitors useful in the treatment of prostatic diseases

JAR Salvador, RMA Pinto, SM Silvestre - The Journal of steroid …, 2013 - Elsevier
The role of steroidal inhibitors of androgen biosynthesis as potential weapons in the
treatment of prostatic diseases, such as benign prostatic hyperplasia and prostatic cancer …

Early steps in androgen biosynthesis: from cholesterol to DHEA

WL Miller - Baillière's clinical endocrinology and metabolism, 1998 - Elsevier
Sex steroids, both androgens and oestrogens, are made from dehydroepiandrosterone
(DHEA). The biosynthesis of DHEA from cholesterol entails four steps. First, cholesterol …

Genetic and clinical features of p450 oxidoreductase deficiency

RR Scott, WL Miller - Hormone Research in Paediatrics, 2008 - karger.com
P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder of
steroidogenesis with multiple clinical manifestations. POR is the electron donor for all …

[HTML][HTML] Monogenic disorders of adrenal steroidogenesis

ES Baranowski, W Arlt, J Idkowiak - Hormone research in paediatrics, 2018 - karger.com
Disorders of adrenal steroidogenesis comprise autosomal recessive conditions affecting
steroidogenic enzymes of the adrenal cortex. Those are located within the 3 major branches …