Article
NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.
Science translational medicine - 5 Oct 2022
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 Sowmyalakshmi, 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
Abstract excerpt
The nitric oxide (NO) signaling pathway in hypothalamic neurons plays a key role in the regulation of the secretion of gonadotropin-releasing hormone (GnRH), which is crucial for reproduction. We hypothesized that a disruption of neuronal NO synthase (NOS1) activity underlies some forms of hypogonadotropic hypogonadism. Whole-exome sequencing was performed on a cohort of 341 probands with congenital...
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