Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans-Reference-Cited by-同舟云学术

Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans

Published:2022-10 Issue: Volume:172 Page:105810
ISSN:0969-9961
Container-title:Neurobiology of Disease
language:en
Short-container-title:Neurobiology of Disease

Author:

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

Publisher

Elsevier BV

Subject

Neurology

Reference55 articles.

1. Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor α1 subunit;Arain;Epilepsia.,2012

2. Local ventromedial hypothalamus glucopenia triggers counterregulatory hormone release;Borg;Diabetes.,1995

3. Tiagabine add-on therapy for drug-resistant focal epilepsy;Bresnahan;Cochrane Database Syst. Rev.,2019

4. Selective changes in single cell GABA(A) receptor subunit expression and function in temporal lobe epilepsy;Brooks-Kayal;Nat. Med.,1998

5. The role of N-glycosylation in the stability, trafficking and GABA-uptake of GABA-transporter 1. Terminal N-glycans facilitate efficient GABA-uptake activity of the GABA transporter;Cai;FEBS J.,2005

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A transporter’s doom or destiny: SLC6A1 in health and disease, novel molecular targets and emerging therapeutic prospects;Frontiers in Molecular Neuroscience;2024-08-29

2. Astrocyte dysregulation as an epileptogenic factor: a systematic review;The Egyptian Journal of Neurology, Psychiatry and Neurosurgery;2024-06-10

3. Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome;International Journal of Molecular Sciences;2024-04-23

4. γ-Aminobutyric acid transporter and GABAA receptor mechanisms in Slc6a1+/A288V and Slc6a1+/S295L mice associated with developmental and epileptic encephalopathies;Brain Communications;2024

5. 4‐Phenylbutyrate promoted wild‐type γ‐aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2^+/Q390X mice associated with Dravet syndrome;Epilepsia;2023-11-29