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

Loic Broix 1 Hélène Jagline Ekaterina L Ivanova Stéphane Schmucker 2 Nathalie Drouot 2 Jill Clayton-Smith 3 Alistair T. Pagnamenta 4 Kay Metcalfe 5 Bertrand Isidor 6 Ulrike Walther Louvier Annapurna Poduri Jenny Taylor 7 Peggy Tilly 8 Karine Poirier 1 Yoann Saillour 1 Nicolas Lebrun 1 Tristan Stemmelen Gabrielle Rudolf 2 Giuseppe Muraca 9 Benjamin Saintpierre Adrienne Elmorjani 1 Martin Moïse Nathalie Bednarek Weirauch Renzo Guerrini 10 Anne Boland 11 Robert Olaso 11 Cecile Masson 12 Ratna Tripathy David Keays Cherif Beldjord 13 Laurent Nguyen Juliette Godin Usha Kini 14 Patrick Nischké Jean-François Deleuze 11 Nadia Bahi-Buisson 15 Izabela Sumara 16 Maria-Victoria Hinckelmann Jamel Chelly 1 
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https://hal.archives-ouvertes.fr/hal-02371039
Contributor : Izabela Sumara Connect in order to contact the contributor
Submitted on : Tuesday, November 19, 2019 - 4:49:31 PM
Last modification on : Friday, August 5, 2022 - 3:39:56 AM

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Loic Broix, Hélène Jagline, Ekaterina L Ivanova, Stéphane Schmucker, Nathalie Drouot, et al.. Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia. Nature Genetics, Nature Publishing Group, 2016, 48 (11), pp.1349-1358. ⟨10.1038/ng.3676⟩. ⟨hal-02371039⟩

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