NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.
Chachlaki K, Messina A, Delli V, Leysen V, Maurnyi C, Huber C, Ternier G, Skrapits K, Papadakis G, Shruti S, Kapanidou M, Cheng X, Acierno J, Rademaker J, Rasika S, Quinton R, Niedziela M, L'Allemand D, Pignatelli D, Dirlewander M, Lang-Muritano M, Kempf P, Catteau-Jonard S, Niederländer NJ, Ciofi P, Tena-Sempere M, Garthwaite J, Storme L, Avan P, Hrabovszky E, Carleton A, Santoni F, Giacobini P, Pitteloud N, Prevot V.
Chachlaki K, et al. Among authors: giacobini p.
Sci Transl Med. 2022 Oct 5;14(665):eabh2369. doi: 10.1126/scitranslmed.abh2369. Epub 2022 Oct 5.
Sci Transl Med. 2022.
PMID: 36197968
Free PMC article.