Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1.
4-phenylbutyrate
GABA transporter
epilepsy
intracellular trafficking
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
04 Jan 2023
04 Jan 2023
Historique:
received:
29
11
2022
revised:
27
12
2022
accepted:
31
12
2022
entrez:
21
1
2023
pubmed:
22
1
2023
medline:
25
1
2023
Statut:
epublish
Résumé
In this article, we identified a novel epileptogenic variant (G307R) of the gene
Identifiants
pubmed: 36674476
pii: ijms24020955
doi: 10.3390/ijms24020955
pmc: PMC9862756
pii:
doi:
Substances chimiques
GABA Plasma Membrane Transport Proteins
0
Lipid Bilayers
0
SLC6A1 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Spanish Ministry Science and Innovation
ID : RTI2018-098712-B-I00
Organisme : Spanish Ministry Science and Innovation
ID : PID2019-109041GB-C22/10.13039/501100011033
Organisme : Ministry of Health, Carlos III/FEDER
ID : PI20/00389
Organisme : Spanish Ministry of Universities
ID : FPU18/02152
Organisme : Autonomous University of Madrid
ID : CA1/RSUE/2021-00753
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