17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Yanase T, Simpson ER, Waterman MR (1991) Endocr Rev 12: 91-108 Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. Ahlgren R, Yanase T, Simpson ER, Winter JS, Waterman MR (1992) J Clin Endocrinol Metab 74: 667-72 Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene. Yanase T, Sanders D, Shibata A, Matsui N, Simpson ER, Waterman MR (1990) J Clin Endocrinol Metab 70: 1325-9 Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient. Biason A, Mantero F, Scaroni C, Simpson ER, Waterman MR (1991) Mol Endocrinol 5: 2037-45 Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency. Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR (1988) Mol Endocrinol 2: 564-70 Dexamethasone inhibits corticotropin-induced accumulation of CYP11A and CYP17 messenger RNAs in bovine adrenocortical cells. Trzeciak WH, LeHoux JG, Waterman MR, Simpson ER (1993) Mol Endocrinol 7: 206-13 Regulation of cholesterol side-chain cleavage and 17 alpha-hydroxylase/lyase activities in proliferating human theca interna cells in long term monolayer culture. McAllister JM, Kerin JF, Trant JM, Estabrook RW, Mason JI, Waterman MR, Simpson ER (1989) Endocrinology 125: 1959-66 Flavodoxin and NADPH-flavodoxin reductase from Escherichia coli support bovine cytochrome P450c17 hydroxylase activities. Jenkins CM, Waterman MR (1994) J Biol Chem 269: 27401-8 Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. Yanase T, Kagimoto M, Suzuki S, Hashiba K, Simpson ER, Waterman MR (1989) J Biol Chem 264: 18076-82 Two distinct pathways of formation of 4-hydroxynonenal. Mechanisms of nonenzymatic transformation of the 9- and 13-hydroperoxides of linoleic acid to 4-hydroxyalkenals. Schneider C, Tallman KA, Porter NA, Brash AR (2001) J Biol Chem 276: 20831-8 Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families. Kagimoto K, Waterman MR, Kagimoto M, Ferreira P, Simpson ER, Winter JS (1989) Hum Genet 82: 285-6 Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450. Yanase T, Kagimoto M, Matsui N, Simpson ER, Waterman MR (1988) Mol Cell Endocrinol 59: 249-53 cAMP-dependent and tissue-specific expression of genes encoding steroidogenic enzymes in bovine luteal and granulosa cells in primary culture. Lauber ME, Kagawa N, Waterman MR, Simpson ER (1993) Mol Cell Endocrinol 93: 227-33 The role of cytochrome b5 in the biosynthesis of androgens by human P450c17. Katagiri M, Kagawa N, Waterman MR (1995) Arch Biochem Biophys 317: 343-7 Biogenesis of volatile aldehydes from fatty acid hydroperoxides: molecular cloning of a hydroperoxide lyase (CYP74C) with specificity for both the 9- and 13-hydroperoxides of linoleic and linolenic acids. Tijet N, Schneider C, Muller BL, Brash AR (2001) Arch Biochem Biophys 386: 281-9 Mechanistic aspects of CYP74 allene oxide synthases and related cytochrome P450 enzymes. Brash AR (2009) Phytochemistry 70: 1522-31 Defective Sphingosine-1-phosphate metabolism is a druggable target in Huntington's disease. Di Pardo A, Amico E, Basit A, Armirotti A, Joshi P, Neely MD, Vuono R, Castaldo S, Digilio AF, Scalabrì F, Pepe G, Elifani F, Madonna M, Jeong SK, Park BM, D'Esposito M, Bowman AB, Barker RA, Maglione V (2017) Sci Rep 7: 5280 Purification, molecular cloning, and expression of the gene encoding fatty acid 13-hydroperoxide lyase from guava fruit (Psidium guajava). Tijet N, Wäspi U, Gaskin DJ, Hunziker P, Muller BL, Vulfson EN, Slusarenko A, Brash AR, Whitehead IM (2000) Lipids 35: 709-20
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