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Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors.
Bazua-Valenti S, Brown MR, Zavras J, Riedl Khursigara M, Grinkevich E, Sidhom EH, Keller KH, Racette M, Dvela-Levitt M, Quintanova C, Demirci H, Sewerin S, Goss AC, Lin J, Yoo H, Vaca Jacome AS, Papanastasiou M, Udeshi N, Carr SA, Himmerkus N, Bleich M, Mutig K, Bachmann S, Halbritter J, Kmoch S, Živná M, Kidd K, Bleyer AJ, Weins A, Alper SL, Shaw JL, Kost-Alimova M, Pablo JLB, Greka A. Bazua-Valenti S, et al. Among authors: pablo jlb. J Clin Invest. 2024 Dec 16;134(24):e180347. doi: 10.1172/JCI180347. J Clin Invest. 2024. PMID: 39680459 Free PMC article.
Scanning mutagenesis of the voltage-gated sodium channel NaV1.2 using base editing.
Pablo JLB, Cornett SL, Wang LA, Jo S, Brünger T, Budnik N, Hegde M, DeKeyser JM, Thompson CH, Doench JG, Lal D, George AL Jr, Pan JQ. Pablo JLB, et al. Cell Rep. 2024 Jun 25;43(6):114327. doi: 10.1016/j.celrep.2024.114327. Epub 2024 May 31. Cell Rep. 2024. PMID: 38823014 Free PMC article. No abstract available.