NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits: reversal with NO therapy in infantile mice

BACKGROUND: The nitric oxide (NO) signaling pathway in hypothalamic neurons plays a key role in the regulation of the secretion of gonadotropin-releasing hormone (GnRH), crucial for reproduction. We hypothesized that a disruption of neuronal NO synthase (NOS1) activity underlies some forms of hypogo...

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Publicado no:Sci Transl Med
Main Authors: Chachlaki, Konstantina, Messina, Andrea, Delli, Virginia, Leysen, Valerie, Maurnyi, Csilla, Huber, Chieko, Ternier, Gaëtan, Skrapits, Katalin, Papadakis, Georgios, Shruti, Sonal, Kapanidou, Maria, Cheng, Xu, Acierno, James, Rademaker, Jesse, Rasika, S, Quinton, Richard, Niedziela, Marek, L’Allemand, Dagmar, Pignatelli, Duarte, Dirlewander, Mirjam, Lang-Muritano, Mariarosaria, Kempf, Patrick, Catteau-Jonard, Sophie, Niederländer, Nicolas J., Ciofi, Philippe, Tena-Sempere, Manuel, Garthwaite, John, Storme, Laurent, Avan, Paul, Hrabovszky, Erik, Carleton, Alan, Santoni, Federico, Giacobini, Paolo, Pitteloud, Nelly, Prevot, Vincent
Formato: Artigo
Idioma:Inglês
Publicado em: 2022
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7613826/
https://ncbi.nlm.nih.gov/pubmed/36197968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.abh2369
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