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Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I, Malunowicz E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CH, Stewart PM. Draper N, et al. Among authors: lavery gg. Nat Genet. 2003 Aug;34(4):434-9. doi: 10.1038/ng1214. Nat Genet. 2003. PMID: 12858176
Hexose 6-phosphate dehydrogenase (H6PD) and corticosteroid metabolism.
White PC, Rogoff D, McMillan DR, Lavery GG. White PC, et al. Among authors: lavery gg. Mol Cell Endocrinol. 2007 Feb;265-266:89-92. doi: 10.1016/j.mce.2006.12.022. Epub 2007 Jan 19. Mol Cell Endocrinol. 2007. PMID: 17240046 Free PMC article. Review.
11beta-Hydroxysteroid Dehydrogenase Type 1 Regulation by Intracellular Glucose 6-Phosphate Provides Evidence for a Novel Link between Glucose Metabolism and Hypothalamo-Pituitary-Adrenal Axis Function.
Walker EA, Ahmed A, Lavery GG, Tomlinson JW, Kim SY, Cooper MS, Ride JP, Hughes BA, Shackleton CHL, McKiernan P, Elias E, Chou JY, Stewart PM. Walker EA, et al. Among authors: lavery gg. J Biol Chem. 2007 Sep 14;282(37):27030-27036. doi: 10.1074/jbc.M704144200. Epub 2007 Jun 22. J Biol Chem. 2007. PMID: 17588937 Free article.
161 results