Article
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
European journal of endocrinology - 1 Jul 2016
Roucher-Boulez Florence, Mallet-Motak Delphine, Samara-Boustani Dinane, Jilani Houweyda, Ladjouze Asmahane, Souchon Pierre-François, Simon Dominique, Nivot Sylvie, Heinrichs Claudine, Ronze Maryline, Bertagna Xavier, Groisne Laure, Leheup Bruno, Naud-Saudreau Catherine, Blondin Gilles, Lefevre Christine, Lemarchand Laetitia, Morel Yves
Abstract excerpt
OBJECTIVE: Nicotinamide nucleotide transhydrogenase (NNT), one of the several genes recently discovered in familial glucocorticoid deficiencies (FGD), is involved in reactive oxygen species detoxification, suggesting that extra-adrenal manifestations may occur, due to the sensitivity to oxidative stress of other organs rich in mitochondria. Here, we sought to identify NNT mutations in a large cohort of patients...
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