ID Database Citation 9783642403361 ISBN "Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [Internet]. Blau N, Duran M, Gibson KM, Dionisi-Vici C. Springer; 2014. 0 p. Available from: https://books.google.com/books/about/Physician_s_Guide_to_the_Diagnosis_Treat.html?hl=&id=wJRBnwEACAAJ OpenLibrary Worldcat" 164477 Pubmed "Genetic and hormonal control of male sexual differentiation. Goldstein JL, Wilson JD. J Cell Physiol. 1975 Apr;85(2 Pt 2 Suppl 1):365–77. PubMed Europe PMC Scholia" 240819 Pubmed "Diminished 5alpha-reductase activity in extracts of fibroblasts cultured from patients with familial incomplete male pseudohermaphroditism, type 2. Moore RJ, Griffin JE, Wilson JD. J Biol Chem. 1975 Sep 25;250(18):7168–72. PubMed Europe PMC Scholia" 1123350 Pubmed "Dihydrotestosterone formation in cultured human fibroblasts. Comparison of cells from normal subjects and patients with familial incomplete male pseudohermaphroditism, Type 2. Wilson JD. J Biol Chem. 1975 May 10;250(9):3498–504. PubMed Europe PMC Scholia" 1238395 Pubmed "Mass spectrometric study of the enzymatic conversion of cholesterol to (22R)-22-hydroxycholesterol, (20R,22R)-20,22-dihydroxycholesterol, and pregnenolone, and of (22R)-22-hydroxycholesterol to the lgycol and pregnenolone in bovine adrenocortical preparations. Mode of oxygen incorporation. Burstein S, Middleditch BS, Gut M. J Biol Chem. 1975 Dec 10;250(23):9028–37. PubMed Europe PMC Scholia" 2339109 Pubmed "Structural and biochemical properties of cloned and expressed human and rat steroid 5 alpha-reductases. Andersson S, Russell DW. Proc Natl Acad Sci U S A. 1990 May;87(10):3640–4. PubMed Europe PMC Scholia" 7217084 Pubmed "Adrenal mitochondrial cytochrome P-450scc. Cholesterol and adrenodoxin interactions at equilibrium and during turnover. Hanukoglu I, Spitsberg V, Bumpus JA, Dus KM, Jefcoate CR. J Biol Chem. 1981 May 10;256(9):4321–8. PubMed Europe PMC Scholia" 8075637 Pubmed "Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, et al. Nat Genet. 1994 May;7(1):34–9. PubMed Europe PMC Scholia" 9452426 Pubmed "Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer. Auchus RJ, Lee TC, Miller WL. J Biol Chem. 1998 Feb 6;273(6):3158–65. PubMed Europe PMC Scholia" 10898110 Pubmed "Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. Makridakis NM, di Salle E, Reichardt JK. Pharmacogenetics. 2000 Jul;10(5):407–13. PubMed Europe PMC Scholia" 10998348 Pubmed "Human 3alpha-hydroxysteroid dehydrogenase isoforms (AKR1C1-AKR1C4) of the aldo-keto reductase superfamily: functional plasticity and tissue distribution reveals roles in the inactivation and formation of male and female sex hormones. Penning TM, Burczynski ME, Jez JM, Hung CF, Lin HK, Ma H, et al. Biochem J. 2000 Oct 1;351(Pt 1):67–77. PubMed Europe PMC Scholia" 11294878 Pubmed "Characterization of a novel type of human microsomal 3alpha -hydroxysteroid dehydrogenase: unique tissue distribution and catalytic properties. Chetyrkin SV, Belyaeva OV, Gough WH, Kedishvili NY. J Biol Chem. 2001 Jun 22;276(25):22278–86. PubMed Europe PMC Scholia" 11329262 Pubmed "Determination of the redox properties of human NADPH-cytochrome P450 reductase. Munro AW, Noble MA, Robledo L, Daff SN, Chapman SK. Biochemistry. 2001 Feb 20;40(7):1956–63. PubMed Europe PMC Scholia" 11360992 Pubmed "Further characterization of human microsomal 3alpha-hydroxysteroid dehydrogenase. Chetyrkin SV, Hu J, Gough WH, Dumaual N, Kedishvili NY. Arch Biochem Biophys. 2001 Feb 1;386(1):1–10. PubMed Europe PMC Scholia" 12917011 Pubmed "Expanded substrate screenings of human and Drosophila type 10 17beta-hydroxysteroid dehydrogenases (HSDs) reveal multiple specificities in bile acid and steroid hormone metabolism: characterization of multifunctional 3alpha/7alpha/7beta/17beta/20beta/21-HSD. Shafqat N, Marschall HU, Filling C, Nordling E, Wu XQ, Björk L, et al. Biochem J. 2003 Nov 15;376(Pt 1):49–60. PubMed Europe PMC Scholia" 14640697 Pubmed "Broad substrate specificity of human cytochrome P450 46A1 which initiates cholesterol degradation in the brain. Mast N, Norcross R, Andersson U, Shou M, Nakayama K, Bjorkhem I, et al. Biochemistry. 2003 Dec 9;42(48):14284–92. PubMed Europe PMC Scholia" 16216911 Pubmed "Androgen metabolism via 17beta-hydroxysteroid dehydrogenase type 3 in mammalian and non-mammalian vertebrates: comparison of the human and the zebrafish enzyme. Mindnich R, Haller F, Halbach F, Moeller G, Hrabé de Angelis M, Adamski J. J Mol Endocrinol. 2005 Oct;35(2):305–16. PubMed Europe PMC Scholia" 17386955 Pubmed "Functional expression and characterisation of human cytochrome P45017alpha in Pichia pastoris. Kolar NW, Swart AC, Mason JI, Swart P. J Biotechnol. 2007 May 10;129(4):635–44. PubMed Europe PMC Scholia" 18707589 Pubmed "Engineering, expression, and purification of “soluble” human cytochrome P45017alpha and its functional characterization. Pechurskaya TA, Lukashevich OP, Gilep AA, Usanov SA. Biochemistry (Mosc). 2008 Jul;73(7):806–11. PubMed Europe PMC Scholia" 19661994 Pubmed "Measurement of cytochrome P450 and NADPH-cytochrome P450 reductase. Guengerich FP, Martin MV, Sohl CD, Cheng Q. Nat Protoc. 2009;4(9):1245–51. PubMed Europe PMC Scholia" 21159775 Pubmed "Structural basis for three-step sequential catalysis by the cholesterol side chain cleavage enzyme CYP11A1. Mast N, Annalora AJ, Lodowski DT, Palczewski K, Stout CD, Pikuleva IA. J Biol Chem. 2011 Feb 18;286(7):5607–13. PubMed Europe PMC Scholia" 21586563 Pubmed "High-yield expression of a catalytically active membrane-bound protein: human P450 oxidoreductase. Sandee D, Miller WL. Endocrinology. 2011 Jul;152(7):2904–8. PubMed Europe PMC Scholia" 21636783 Pubmed "Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system. Strushkevich N, MacKenzie F, Cherkesova T, Grabovec I, Usanov S, Park HW. Proc Natl Acad Sci U S A. 2011 Jun 21;108(25):10139–43. PubMed Europe PMC Scholia" 21802064 Pubmed "Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Flück CE, Meyer-Böni M, Pandey AV, Kempná P, Miller WL, Schoenle EJ, et al. Am J Hum Genet. 2011 Aug 12;89(2):201–18. PubMed Europe PMC Scholia" 23800242 Pubmed "The differential role of androgens in early human sex development. Hiort O. BMC Med. 2013 Jun 24;11:152. PubMed Europe PMC Scholia" 25577493 Pubmed "Aldo-keto Reductase 1B15 (AKR1B15): a mitochondrial human aldo-keto reductase with activity toward steroids and 3-keto-acyl-CoA conjugates. Weber S, Salabei JK, Möller G, Kremmer E, Bhatnagar A, Adamski J, et al. J Biol Chem. 2015 Mar 6;290(10):6531–45. PubMed Europe PMC Scholia" 26545797 Pubmed "Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development. Engeli RT, Rhouma BB, Sager CP, Tsachaki M, Birk J, Fakhfakh F, et al. J Steroid Biochem Mol Biol. 2016 Jan;155(Pt A):147–54. PubMed Europe PMC Scholia" 26587646 Pubmed "Mechanistic Scrutiny Identifies a Kinetic Role for Cytochrome b5 Regulation of Human Cytochrome P450c17 (CYP17A1, P450 17A1). Simonov AN, Holien JK, Yeung JCI, Nguyen AD, Corbin CJ, Zheng J, et al. PLoS One. 2015 Nov 20;10(11):e0141252. PubMed Europe PMC Scholia" 26668369 Pubmed "Unveiling the crucial intermediates in androgen production. Mak PJ, Gregory MC, Denisov IG, Sligar SG, Kincaid JR. Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15856–61. PubMed Europe PMC Scholia" 26855069 Pubmed "Characterization of 5α-reductase activity and isoenzymes in human abdominal adipose tissues. Fouad Mansour M, Pelletier M, Tchernof A. J Steroid Biochem Mol Biol. 2016 Jul;161:45–53. PubMed Europe PMC Scholia" 26976652 Pubmed "Role of cytochrome b5 in the modulation of the enzymatic activities of cytochrome P450 17α-hydroxylase/17,20-lyase (P450 17A1). Bhatt MR, Khatri Y, Rodgers RJ, Martin LL. J Steroid Biochem Mol Biol. 2017 Jun;170:2–18. PubMed Europe PMC Scholia" 27339894 Pubmed "Mechanism of 17α,20-Lyase and New Hydroxylation Reactions of Human Cytochrome P450 17A1: 18O LABELING AND OXYGEN SURROGATE EVIDENCE FOR A ROLE OF A PERFERRYL OXYGEN. Yoshimoto FK, Gonzalez E, Auchus RJ, Guengerich FP. J Biol Chem. 2016 Aug 12;291(33):17143–64. PubMed Europe PMC Scholia"