Ontology highlight
ABSTRACT:
SUBMITTER: Broix L
PROVIDER: S-EPMC5086093 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
Broix Loïc L Jagline Hélène H Ivanova Ekaterina E Schmucker Stéphane S Drouot Nathalie N Clayton-Smith Jill J Pagnamenta Alistair T AT Metcalfe Kay A KA Isidor Bertrand B Louvier Ulrike Walther UW Poduri Annapurna A Taylor Jenny C JC Tilly Peggy P Poirier Karine K Saillour Yoann Y Lebrun Nicolas N Stemmelen Tristan T Rudolf Gabrielle G Muraca Giuseppe G Saintpierre Benjamin B Elmorjani Adrienne A Moïse Martin M Weirauch Nathalie Bednarek NB Guerrini Renzo R Boland Anne A Olaso Robert R Masson Cecile C Tripathy Ratna R Keays David D Beldjord Cherif C Nguyen Laurent L Godin Juliette J Kini Usha U Nischké Patrick P Deleuze Jean-François JF Bahi-Buisson Nadia N Sumara Izabela I Hinckelmann Maria-Victoria MV Chelly Jamel J
Nature genetics 20161003 11
Neurodevelopmental disorders with periventricular nodular heterotopia (PNH) are etiologically heterogeneous, and their genetic causes remain in many cases unknown. Here we show that missense mutations in NEDD4L mapping to the HECT domain of the encoded E3 ubiquitin ligase lead to PNH associated with toe syndactyly, cleft palate and neurodevelopmental delay. Cellular and expression data showed sensitivity of PNH-associated mutants to proteasome degradation. Moreover, an in utero electroporation a ...[more]