Cargando…
Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans
OBJECTIVE: Mutations in γ-aminobutyric acid (GABA) transporter 1 (GAT-1)-encoding SLC6A1 have been associated with myoclonic atonic epilepsy and other phenotypes. We determined the patho-mechanisms of the mutant GAT-1, in order to identify treatment targets. METHODS: We conducted whole-exome sequenc...
Autores principales: | Mermer, Felicia, Poliquin, Sarah, Zhou, Shuizhen, Wang, Xiaodong, Ding, Yifeng, Yin, Fei, Shen, Wangzhen, Wang, Juexin, Rigsby, Kathryn, Xu, Dong, Mack, Taralynn, Nwosu, Gerald, Flamm, Carson, Stein, Matthew, Kang, Jing-Qiong |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9472560/ https://www.ncbi.nlm.nih.gov/pubmed/35840120 http://dx.doi.org/10.1016/j.nbd.2022.105810 |
Ejemplares similares
-
4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in SLC6A1 patient variant-bearing cell and mouse models
por: Nwosu, Gerald, et al.
Publicado: (2022) -
Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism
por: Wang, Jie, et al.
Publicado: (2020) -
GABA(A) Receptor β3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox–Gastaut Syndrome
por: Nwosu, Gerald Ikemefuna, et al.
Publicado: (2023) -
GABA release by hippocampal astrocytes
por: Le Meur, Karim, et al.
Publicado: (2012) -
Astrocyte and Neuronal Pannexin1 Contribute Distinctly to Seizures
por: Scemes, Eliana, et al.
Publicado: (2019)