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...

Descripción completa

Detalles Bibliográficos
Autores principales: Cabana, Valérie C., Bouchard, Antoine Y., Sénécal, Audrey M., Ghilarducci, Kim, Kourrich, Saïd, Cappadocia, Laurent, Lussier, Marc P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620429/
https://www.ncbi.nlm.nih.gov/pubmed/34831286
http://dx.doi.org/10.3390/cells10113063

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620429/
https://www.ncbi.nlm.nih.gov/pubmed/34831286
http://dx.doi.org/10.3390/cells10113063

Ejemplares similares