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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: warth r. 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.
Proximal renal tubular acidosis in TASK2 K+ channel-deficient mice reveals a mechanism for stabilizing bicarbonate transport.
Warth R, Barrière H, Meneton P, Bloch M, Thomas J, Tauc M, Heitzmann D, Romeo E, Verrey F, Mengual R, Guy N, Bendahhou S, Lesage F, Poujeol P, Barhanin J. Warth R, et al. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8215-20. doi: 10.1073/pnas.0400081101. Epub 2004 May 12. Proc Natl Acad Sci U S A. 2004. PMID: 15141089 Free PMC article.
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A. Kleta R, et al. Among authors: warth r. Nat Genet. 2004 Sep;36(9):999-1002. doi: 10.1038/ng1405. Epub 2004 Aug 1. Nat Genet. 2004. PMID: 15286787
Invalidation of TASK1 potassium channels disrupts adrenal gland zonation and mineralocorticoid homeostasis.
Heitzmann D, Derand R, Jungbauer S, Bandulik S, Sterner C, Schweda F, El Wakil A, Lalli E, Guy N, Mengual R, Reichold M, Tegtmeier I, Bendahhou S, Gomez-Sanchez CE, Aller MI, Wisden W, Weber A, Lesage F, Warth R, Barhanin J. Heitzmann D, et al. Among authors: warth r. EMBO J. 2008 Jan 9;27(1):179-87. doi: 10.1038/sj.emboj.7601934. Epub 2007 Nov 22. EMBO J. 2008. PMID: 18034154 Free PMC article.
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R. Bockenhauer D, et al. Among authors: warth r. N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276. N Engl J Med. 2009. PMID: 19420365 Free PMC article.
Task2 potassium channels set central respiratory CO2 and O2 sensitivity.
Gestreau C, Heitzmann D, Thomas J, Dubreuil V, Bandulik S, Reichold M, Bendahhou S, Pierson P, Sterner C, Peyronnet-Roux J, Benfriha C, Tegtmeier I, Ehnes H, Georgieff M, Lesage F, Brunet JF, Goridis C, Warth R, Barhanin J. Gestreau C, et al. Among authors: warth r. Proc Natl Acad Sci U S A. 2010 Feb 2;107(5):2325-30. doi: 10.1073/pnas.0910059107. Epub 2010 Jan 19. Proc Natl Acad Sci U S A. 2010. PMID: 20133877 Free PMC article.
188 results