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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.
PAAN/MIF nuclease inhibition prevents neurodegeneration in Parkinson's disease.
Park H, Kam TI, Peng H, Chou SC, Mehrabani-Tabari AA, Song JJ, Yin X, Karuppagounder SS, Umanah GK, Rao AVS, Choi Y, Aggarwal A, Chang S, Kim H, Byun J, Liu JO, Dawson TM, Dawson VL. Park H, et al. Cell. 2022 May 26;185(11):1943-1959.e21. doi: 10.1016/j.cell.2022.04.020. Epub 2022 May 10. Cell. 2022. PMID: 35545089 Free PMC article.
A nuclease that mediates cell death induced by DNA damage and poly(ADP-ribose) polymerase-1.
Wang Y, An R, Umanah GK, Park H, Nambiar K, Eacker SM, Kim B, Bao L, Harraz MM, Chang C, Chen R, Wang JE, Kam TI, Jeong JS, Xie Z, Neifert S, Qian J, Andrabi SA, Blackshaw S, Zhu H, Song H, Ming GL, Dawson VL, Dawson TM. Wang Y, et al. Science. 2016 Oct 7;354(6308):aad6872. doi: 10.1126/science.aad6872. Science. 2016. PMID: 27846469 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.
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