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

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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Bibliographic Details
Main Authors: Valérie C. Cabana, Antoine Y. Bouchard, Audrey M. Sénécal, Kim Ghilarducci, Saïd Kourrich, Laurent Cappadocia, Marc P. Lussier
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:Cells
Subjects:
RNF13
AP-3 complex
endosomes
lysosomes
intracellular trafficking
genetic mutations
Online Access:https://www.mdpi.com/2073-4409/10/11/3063

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