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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

Published on 2 October 2023
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia
Description
 
Date de publication 
Auteurs
Broix L, Jagline H, Ivanova EL, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A, Moise M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischke P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J and Deciphering Dev Disorders S
Revue
Année2,016
Département / Service
IG/CNG
Laboratoire
LBanq, LMPD
Impact Factor 
InstitutIG
url DOI10.1038/ng.3676

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