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γ-Aminobutyric acid transporter and GABAA receptor mechanisms in Slc6a1+/A288V and Slc6a1+/S295L mice associated with developmental and epileptic encephalopathies 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 分享 收藏
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 Shen, Wangzhen; Flamm, Carson; Delahanty, Aiden J.; Casteel, Emmett; Biven, Marshall; Deleeuw, Melissa B.; Poliquin, Sarah; Nwosu, Gerald; Randhave, Karishma; Kang, Jing-Qiong 分享 收藏
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis SLC6A1变异致病性、分子功能和表型: 遗传和临床分析 Stefanski, Arthur; Perez-Palma, Eduardo; Bruenger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Kloeckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Angel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M.; Hajianpour, M. J.; Pal, Deb K.; Engelen, Marc; Hagebeuk, Eveline E. O.; Shinawi, Marwan; Heidlebaugh, Alexis R.; Oetjens, Kathryn; Hoffman, Trevor L.; Striano, Pasquale; Freed, Amanda S.; Futtrup, Line; Balslev, Thomas; Abuli, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B.; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R.; Tiller, Jacob; Freed, Amber N.; Kang, Jing-Qiong; Wuster, Arthur; Moller, Rikke S.; Lal, Dennis 分享 收藏
Heterozygous GABAA receptor β3 subunit N110D knock-in mice have epileptic spasms 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. 分享 收藏
Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans 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 分享 收藏
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Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons Mermer, Felicia; Poliquin, Sarah; Rigsby, Kathryn; Rastogi, Anuj; Shen, Wangzhen; Romero-Morales, Alejandra; Nwosu, Gerald; McGrath, Patrick; Demerast, Scott; Aoto, Jason; Bilousova, Ganna; Lal, Dennis; Gama, Vivian; Kang, Jing-Qiong 分享 收藏
Current knowledge of SLC6A1-related neurodevelopmental disorders SLC6A1-related神经发育障碍的当前知识 Goodspeed, Kimberly; Perez-Palma, Eduardo; Iqbal, Sumaiya; Cooper, Dominique; Scimemi, Annalisa; Johannesen, Katrine M.; Stefanski, Arthur; Demarest, Scott; Helbig, Katherine L.; Kang, Jingqiong; Shaffo, Frances C.; Prentice, Brandon; Brownstein, Catherine A.; Lim, Byungchan; Helbig, Ingo; De Los Reyes, Emily; McKnight, Dianalee; Crunelli, Vincenzo; Campbell, Arthur J.; Moller, Rikke S.; Freed, Amber; Lal, Dennis 分享 收藏
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Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism Wang, Jie; Poliquin, Sarah; Mermer, Felicia; Eissman, Jaclyn; Delpire, Eric; Wang, Juexin; Shen, Wangzhen; Cai, Kefu; Li, Bing-Mei; Li, Zong-Yan; Xu, Dong; Nwosu, Gerald; Flamm, Carson; Liao, Wei-Ping; Shi, Yi-Wu; Kang, Jing-Qiong 分享 收藏
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