Publications

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    Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough

    Sep 15, 2022

    Rhianna E Lee, Catherine A Lewis, Lihua He, Emily C Bulik-Sullivan, Samuel C Gallant, Teresa M Mascenik, Hong Dang, Deborah M Cholon, Martina Gentzsch, Lisa C Morton, John T Minges, Jonathan W Theile, Neil A Castle, Michael R Knowles, Adam J Kimple, Scott H Randell

    A-type FHFs mediate resurgent currents through TTX-resistant voltage-gated sodium channels

    Apr 20, 2022

    Yucheng Xiao, Jonathan W Theile, Agnes Zybura, Yanling Pan, Zhixin Lin, Theodore R Cummins

    Discovery of the First Orally Available, Selective KNa1.1 Inhibitor: In Vitro and In Vivo Activity of an Oxadiazole Series

    Mar 01, 2021

    Andrew M. Griffin, Kristopher M. Kahlig, Robert John Hatch, Zoë A. Hughes, Mark L. Chapman, Brett Antonio, Brian E. Marron, Marion Wittmann, and Gabriel Martinez-Botella

    The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease

    Dec 17, 2020

    Nadine Bakkar, Alexander Starr, Benjamin E. Rabichow, Ileana Lorenzini, Zachary T. McEachin, Robert Kraft, Matthew Chaung, Sam Macklin-Isquierdo, Taylor Wingfield, Briggs Carhart, Nathan Zahler, Wen-Hsuan Chang, Gary J. Bassell, Alexandre Betourne, Nicholas Boulis, Samuel V. Alworth, Justin K. Ichida, Paul R. August, Daniela C. Zarnescu, Rita Sattler, Robert Bowser

    Repurposing Approved Drugs as Inhibitors of Kv7.1 and Nav1.8 To Treat Pitt Hopkins Syndrome

    Jul 22, 2020

    Sean Ekins, Jacob Gerlach, Kimberley M. Zorn, Brett M. Antonio, Zhixin Lin, Aaron Gerlach

    Kidney Disease-Associated APOL1 Variants Have Dose-Dependent, Dominant Toxic Gain-of-Function

    May 12, 2020

    Somenath Datta, Rama Kataria, Jia-Yue Zhang, Savannah Moore, Kaitlyn Petitpas, Adam Mohamed, Nathan Zahler, Martin R. Pollak, Opeyemi A. Olabisi

     

    Personalized medicine: Vinpocetine to reverse effects of GABRB3 mutation

    Oct 28, 2019

    Santoshi Billakota, J. Michael Andresen, Bryant C. Gay, Gregory R. Stewart, Nikolai B. Fedorov, Aaron C. Gerlach, Orrin Devinsky

    Modification of messenger RNA by 2′-O- methylation regulates gene expression in vivo

    Jul 30, 2019

    Brittany A. Elliott, Hsiang-Ting Ho, Srivathsan V. Ranganathan, Sweta Vangaveti, Olga Ilkayeva, Hala Abou Assi, Alex K. Choi, Paul F. Agris & Christopher L. Holley

    Inter-Active Site Communication Mediated by the Dimer Interface Beta-Sheet in the Half-the-Sites Enzyme, Thymidylate Synthase.

    Jul 30, 2019

    Paul J. Sapienza, Konstantin I. Popov, David D. Mowrey, Bradley T. Falk, Nikolay V. Dokholyan, Andrew L. Lee

    β-Methylamino-L-alanine substitution of serine in SOD1 suggests a direct role in ALS etiology

    Jul 19, 2019

    Elizabeth A. Proctor, David D. Mowrey, Nikolay V. Dokholyan