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Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.
Clapcote SJ, Duffy S, Xie G, Kirshenbaum G, Bechard AR, Rodacker Schack V, Petersen J, Sinai L, Saab BJ, Lerch JP, Minassian BA, Ackerley CA, Sled JG, Cortez MA, Henderson JT, Vilsen B, Roder JC. Clapcote SJ, et al. Among authors: roder jc. Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):14085-90. doi: 10.1073/pnas.0904817106. Epub 2009 Aug 3. Proc Natl Acad Sci U S A. 2009. PMID: 19666602 Free PMC article.
Mania-like behavior induced by genetic dysfunction of the neuron-specific Na+,K+-ATPase α3 sodium pump.
Kirshenbaum GS, Clapcote SJ, Duffy S, Burgess CR, Petersen J, Jarowek KJ, Yücel YH, Cortez MA, Snead OC 3rd, Vilsen B, Peever JH, Ralph MR, Roder JC. Kirshenbaum GS, et al. Among authors: roder jc. Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18144-9. doi: 10.1073/pnas.1108416108. Epub 2011 Oct 24. Proc Natl Acad Sci U S A. 2011. PMID: 22025725 Free PMC article.
A new Kv1.2 channelopathy underlying cerebellar ataxia.
Xie G, Harrison J, Clapcote SJ, Huang Y, Zhang JY, Wang LY, Roder JC. Xie G, et al. Among authors: roder jc. J Biol Chem. 2010 Oct 15;285(42):32160-73. doi: 10.1074/jbc.M110.153676. Epub 2010 Aug 9. J Biol Chem. 2010. PMID: 20696761 Free PMC article.
Distinct neurological disorders with ATP1A3 mutations.
Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group. Heinzen EL, et al. Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Lancet Neurol. 2014. PMID: 24739246 Free PMC article. Review.
298 results