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GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, Margari L, Kamm C, Schneider SA, Huber SM, Pekrun A, Roebling R, Seebohm G, Koka S, Lang C, Kraft E, Blazevic D, Salvo-Vargas A, Fauler M, Mottaghy FM, Münchau A, Edwards MJ, Presicci A, Margari F, Gasser T, Lang F, Bhatia KP, Lehmann-Horn F, Lerche H. Weber YG, et al. Among authors: koka s. J Clin Invest. 2008 Jun;118(6):2157-68. doi: 10.1172/JCI34438. J Clin Invest. 2008. PMID: 18451999 Free PMC article.
TRPC6 contributes to the Ca(2+) leak of human erythrocytes.
Foller M, Kasinathan RS, Koka S, Lang C, Shumilina E, Birnbaumer L, Lang F, Huber SM. Foller M, et al. Among authors: koka s. Cell Physiol Biochem. 2008;21(1-3):183-92. doi: 10.1159/000113760. Epub 2008 Jan 16. Cell Physiol Biochem. 2008. PMID: 18209485
185 results