Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1

In this article, we identified a novel epileptogenic variant (G307R) of the gene SLC6A1, which encodes the GABA transporter GAT-1. Our main goal was to investigate the pathogenic mechanisms of this variant, located near the neurotransmitter permeation pathway, and compare it with other variants loca...

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Detalles Bibliográficos
Autores principales: Piniella, Dolores, Canseco, Ania, Vidal, Silvia, Xiol, Clara, Díaz de Bustamante, Aránzazu, Martí-Carrera, Itxaso, Armstrong, Judith, Bastolla, Ugo, Zafra, Francisco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9862756/
https://www.ncbi.nlm.nih.gov/pubmed/36674476
http://dx.doi.org/10.3390/ijms24020955

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9862756/
https://www.ncbi.nlm.nih.gov/pubmed/36674476
http://dx.doi.org/10.3390/ijms24020955

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