The impact of the clinical CYP11B2 mutation V386A strongly depends on the enzyme’s genetic background
Author:
Affiliation:
1. Institute of Biochemistry, Saarland University, Saarbrücken 66123, Germany
Publisher
Japan Endocrine Society
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://www.jstage.jst.go.jp/article/endocrj/64/4/64_EJ16-0417/_pdf
Reference14 articles.
1. 1. Bernhardt R, Waterman MR (2007) Cytochrome P450 and Steroid Hormone Biosynthesis. In: Sigel A, Sigel H, Sigel RKO (ed) The Ubiquitous Roles of Cytochrome P450 Proteins. Vol. 3. John Wiley & Sons Ltd., New York: 361-396.
2. 2. Kawamoto T, Mitsuuchi Y, Toda K, Yokoyama Y, Miyahara K, et al. (1992) Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans. Proc Natl Acad Sci USA 89: 1458-1462.
3. 3. Ulick S (1976) Diagnosis and nomenclature of the disorders of the terminal portion of the aldosterone biosynthetic pathway. J Clin Endocrinol Metab 43: 92-96.
4. 4. Portrat-Doyen S, Tourniaire J, Richard O, Mulatero P, Aupetit-Faisant B, et al. (1998) Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. J Clin Endocrinol Metab 83: 4156-4161.
5. 5. Hobler A, Kagawa N, Hutter MC, Hartmann MF, Wudy SA, et al. (2012) Human aldosterone synthase: recombinant expression in E. coli and purification enables a detailed biochemical analysis of the protein on the molecular level. J Steroid Biochem Mol Biol 132: 57-65.
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