RNF13 Dileucine Motif Variants L311S and L312P Interfere with Endosomal Localization and AP-3 Complex Association

Developmental and epileptic encephalopathies (DEE) are rare and serious neurological disorders characterized by severe epilepsy with refractory seizures and a significant developmental delay. Recently, DEE73 was linked to genetic alterations of the RNF13 gene, which convert positions 311 or 312 in t...

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Autores principales: Valérie C. Cabana, Antoine Y. Bouchard, Audrey M. Sénécal, Kim Ghilarducci, Saïd Kourrich, Laurent Cappadocia, Marc P. Lussier
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
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Acceso en línea:https://doaj.org/article/19041a9cefa4484d8aa32a40fe48c868
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