日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Accumulation of Extracellular GABA, Impaired GABAergic Neurotransmission and 4-Phenylbutyrate Rescue in Mice of SLC6A1 Variant-Mediated Disorders

SLC6A1变异介导疾病小鼠中细胞外GABA积累、GABA能神经传递受损及4-苯基丁酸酯的挽救作用

Zavalin, Kirill; Randhave, Karishma; Biven, Marshall; Shen, Wangzhen; Kang, Jing-Qiong

4-Phenylbutyrate restored GABA uptake, mitigated seizures in SLC6A1 and SLC6A11 microdeletions/3p- syndrome: From cellular models to human patients.

4-苯基丁酸酯恢复了 GABA 的摄取,减轻了 SLC6A1 和 SLC6A11 微缺失/3p- 综合征的癫痫发作:从细胞模型到人类患者。

DeLeeuw Melissa B, Shen Wangzhen, Tian Xiaojuan, Ding Changhong, Randhave Karishma, Kang Jing-Qiong

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

4-苯基丁酸酯促进野生型γ-氨基丁酸A型受体转运,降低内质网应激,并减轻与Dravet综合征相关的Gabrg2(+/Q390X)小鼠的癫痫发作。

Shen, Wangzhen; Flamm, Carson; Delahanty, Aiden J; Casteel, Emmett; Biven, Marshall; DeLeeuw, Melissa B; Poliquin, Sarah; Nwosu, Gerald; Randhave, Karishma; Kang, Jing-Qiong

γ-Aminobutyric acid transporter and GABA(A) receptor mechanisms in Slc6a1(+/A288V) and Slc6a1(+/S295L) mice associated with developmental and epileptic encephalopathies

Slc6a1(+/A288V)和Slc6a1(+/S295L)小鼠中γ-氨基丁酸转运蛋白和GABA(A)受体机制与发育性和癫痫性脑病相关

Shen, Wangzhen; Nwosu, Gerald; Honer, Michael; Clasadonte, Jerome; Schmalzbauer, Svenja; Biven, Marshall; Langer, Katherine; Flamm, Carson; Poliquin, Sarah; Mermer, Felicia; Dedeurwaerdere, Stefanie; Hernandez, Maria-Clemencia; Kang, Jing-Qiong

Heterozygous GABA(A) receptor β3 subunit N110D knock-in mice have epileptic spasms

杂合子GABA(A)受体β3亚基N110D敲入小鼠出现癫痫痉挛

Qu, Shimian; Jackson, Laurel G; Zhou, Chengwen; Shen, DingDing; Shen, Wangzhen; Nwosu, Gerald; Howe, Rachel; Catron, Mackenzie A; Flamm, Carson; Biven, Marshall; Kang, Jing-Qiong; Macdonald, Robert L

GABRG2 Variants Associated with Febrile Seizures

与热性惊厥相关的GABRG2变异

Hernandez, Ciria C; Shen, Yanwen; Hu, Ningning; Shen, Wangzhen; Narayanan, Vinodh; Ramsey, Keri; He, Wen; Zou, Liping; Macdonald, Robert L

Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human

小鼠和人类 GABRA1 和 GABRG2 基因微缺失导致癫痫和失明

Zhang, Qi; Forster-Gibson, Cynthia; Bercovici, Eduard; Bernardo, Alexandra; Ding, Fei; Shen, Wangzhen; Langer, Katherine; Rex, Tonia; Kang, Jing-Qiong

4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in SLC6A1 patient variant-bearing cell and mouse models

4-苯基丁酸酯可恢复SLC6A1患者变异细胞和小鼠模型中γ-氨基丁酸的摄取并减少癫痫发作。

Nwosu, Gerald; Mermer, Felicia; Flamm, Carson; Poliquin, Sarah; Shen, Wangzhen; Rigsby, Kathryn; Kang, Jing Qiong

GABA(A) receptor β3 subunit mutation D120N causes Lennox-Gastaut syndrome in knock-in mice

GABA(A)受体β3亚基突变D120N导致敲入小鼠出现Lennox-Gastaut综合征

Qu, Shimian; Catron, Mackenzie; Zhou, Chengwen; Janve, Vaishali; Shen, Wangzhen; Howe, Rachel K; Macdonald, Robert L

Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes

由于不同的GABRB3基因突变导致的突触簇集差异会引起不同的癫痫综合征。

Shi, Yi-Wu; Zhang, Qi; Cai, Kefu; Poliquin, Sarah; Shen, Wangzhen; Winters, Nathan; Yi, Yong-Hong; Wang, Jie; Hu, Ningning; Macdonald, Robert L; Liao, Wei-Ping; Kang, Jing-Qiong