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IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission.
Brant B, Stern T, Shekhidem HA, Mizrahi L, Rosh I, Stern Y, Ofer P, Asleh A, Umanah GKE, Jada R, Levy NS, Levy AP, Stern S. Brant B, et al. Among authors: umanah gke. Mol Psychiatry. 2021 Dec;26(12):7498-7508. doi: 10.1038/s41380-021-01281-0. Epub 2021 Sep 17. Mol Psychiatry. 2021. PMID: 34535765 Free PMC article.
PARIS farnesylation prevents neurodegeneration in models of Parkinson's disease.
Jo A, Lee Y, Kam TI, Kang SU, Neifert S, Karuppagounder SS, Khang R, Kang H, Park H, Chou SC, Oh S, Jiang H, Swing DA, Ham S, Pirooznia S, Umanah GKE, Mao X, Kumar M, Ko HS, Kang HC, Lee BD, Lee YI, Andrabi SA, Park CH, Lee JY, Kim H, Kim H, Kim H, Cho JW, Paek SH, Na CH, Tessarollo L, Dawson VL, Dawson TM, Shin JH. Jo A, et al. Among authors: umanah gke. Sci Transl Med. 2021 Jul 28;13(604):eaax8891. doi: 10.1126/scitranslmed.aax8891. Sci Transl Med. 2021. PMID: 34321320 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. Cell Rep. 2020 Nov 3;33(5):108329. doi: 10.1016/j.celrep.2020.108329. Cell Rep. 2020. PMID: 33147468 Free PMC article.
IQSEC2-Associated Intellectual Disability and Autism.
Levy NS, Umanah GKE, Rogers EJ, Jada R, Lache O, Levy AP. Levy NS, et al. Among authors: umanah gke. Int J Mol Sci. 2019 Jun 21;20(12):3038. doi: 10.3390/ijms20123038. Int J Mol Sci. 2019. PMID: 31234416 Free PMC article. Review.
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.
Rogers EJ, Jada R, Schragenheim-Rozales K, Sah M, Cortes M, Florence M, Levy NS, Moss R, Walikonis RS, Palty R, Shalgi R, Lichtman D, Kavushansky A, Gerges NZ, Kahn I, Umanah GKE, Levy AP. Rogers EJ, et al. Among authors: umanah gke. Front Mol Neurosci. 2019 Feb 20;12:43. doi: 10.3389/fnmol.2019.00043. eCollection 2019. Front Mol Neurosci. 2019. PMID: 30842726 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. Sci Transl Med. 2017 Dec 13;9(420):eaah4985. doi: 10.1126/scitranslmed.aah4985. Sci Transl Med. 2017. PMID: 29237760 Free PMC article.
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. Neurol Genet. 2017 Feb 1;3(1):e130. doi: 10.1212/NXG.0000000000000130. eCollection 2017 Feb. Neurol Genet. 2017. PMID: 28180185 Free PMC article.
17 results