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KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.
Reichold M, Zdebik AA, Lieberer E, Rapedius M, Schmidt K, Bandulik S, Sterner C, Tegtmeier I, Penton D, Baukrowitz T, Hulton SA, Witzgall R, Ben-Zeev B, Howie AJ, Kleta R, Bockenhauer D, Warth R. Reichold M, et al. Among authors: rapedius m. Proc Natl Acad Sci U S A. 2010 Aug 10;107(32):14490-5. doi: 10.1073/pnas.1003072107. Epub 2010 Jul 22. Proc Natl Acad Sci U S A. 2010. PMID: 20651251 Free PMC article.
Voltage-dependent gating in a "voltage sensor-less" ion channel.
Kurata HT, Rapedius M, Kleinman MJ, Baukrowitz T, Nichols CG. Kurata HT, et al. Among authors: rapedius m. PLoS Biol. 2010 Feb 23;8(2):e1000315. doi: 10.1371/journal.pbio.1000315. PLoS Biol. 2010. PMID: 20208975 Free PMC article.
The pore structure and gating mechanism of K2P channels.
Piechotta PL, Rapedius M, Stansfeld PJ, Bollepalli MK, Ehrlich G, Andres-Enguix I, Fritzenschaft H, Decher N, Sansom MS, Tucker SJ, Baukrowitz T. Piechotta PL, et al. Among authors: rapedius m. EMBO J. 2011 Aug 5;30(17):3607-19. doi: 10.1038/emboj.2011.268. EMBO J. 2011. PMID: 21822218 Free PMC article.
34 results