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Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
Ahrens-Nicklas RC, Umanah GK, Sondheimer N, Deardorff MA, Wilkens AB, Conlin LK, Santani AB, Nesbitt A, Juulsola J, Ma E, Dawson TM, Dawson VL, Marsh ED. Ahrens-Nicklas RC, et al. Among authors: ma e. Neurol Genet. 2017 Feb 1;3(1):e130. doi: 10.1212/NXG.0000000000000130. eCollection 2017 Feb. Neurol Genet. 2017. PMID: 28180185 Free PMC article.
Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel.
Umanah GKE, Pignatelli M, Yin X, Chen R, Crawford J, Neifert S, Scarffe L, Behensky AA, Guiberson N, Chang M, Ma E, Kim JW, Castro CC, Mao X, Chen L, Andrabi SA, Pletnikov MV, Pulver AE, Avramopoulos D, Bonci A, Valle D, Dawson TM, Dawson VL. Umanah GKE, et al. Among authors: ma e. Sci Transl Med. 2017 Dec 13;9(420):eaah4985. doi: 10.1126/scitranslmed.aah4985. Sci Transl Med. 2017. PMID: 29237760 Free PMC article.
AMPA Receptor Surface Expression Is Regulated by S-Nitrosylation of Thorase and Transnitrosylation of NSF.
Umanah GKE, Ghasemi M, Yin X, Chang M, Kim JW, Zhang J, Ma E, Scarffe LA, Lee YI, Chen R, Tangella K, McNamara A, Abalde-Atristain L, Dar MA, Bennett S, Cortes M, Andrabi SA, Doulias PT, Ischiropoulos H, Dawson TM, Dawson VL. Umanah GKE, et al. Among authors: ma e. Cell Rep. 2020 Nov 3;33(5):108329. doi: 10.1016/j.celrep.2020.108329. Cell Rep. 2020. PMID: 33147468 Free PMC article.
A predictive language model for SARS-CoV-2 evolution.
Ma E, Guo X, Hu M, Wang P, Wang X, Wei C, Cheng G. Ma E, et al. Signal Transduct Target Ther. 2024 Dec 23;9(1):353. doi: 10.1038/s41392-024-02066-x. Signal Transduct Target Ther. 2024. PMID: 39710752 Free PMC article.
1,463 results