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Page 1
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.
Functional consequences of the CAPOS mutation E818K of Na+,K+-ATPase.
Roenn CP, Li M, Schack VR, Forster IC, Holm R, Toustrup-Jensen MS, Andersen JP, Petrou S, Vilsen B. Roenn CP, et al. Among authors: toustrup jensen ms. J Biol Chem. 2019 Jan 4;294(1):269-280. doi: 10.1074/jbc.RA118.004591. Epub 2018 Nov 8. J Biol Chem. 2019. PMID: 30409907 Free PMC article.
Crystal structure of the sodium-potassium pump.
Morth JP, Pedersen BP, Toustrup-Jensen MS, Sørensen TL, Petersen J, Andersen JP, Vilsen B, Nissen P. Morth JP, et al. Among authors: toustrup jensen ms. Nature. 2007 Dec 13;450(7172):1043-9. doi: 10.1038/nature06419. Nature. 2007. PMID: 18075585
Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.
Arystarkhova E, Toustrup-Jensen MS, Holm R, Ko JK, Lee KE, Feschenko P, Ozelius LJ, Brashear A, Vilsen B, Sweadner KJ. Arystarkhova E, et al. Among authors: toustrup jensen ms. J Biol Chem. 2023 Jan;299(1):102758. doi: 10.1016/j.jbc.2022.102758. Epub 2022 Dec 1. J Biol Chem. 2023. PMID: 36462665 Free PMC article.
A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.
Blanco-Arias P, Einholm AP, Mamsa H, Concheiro C, Gutiérrez-de-Terán H, Romero J, Toustrup-Jensen MS, Carracedo A, Jen JC, Vilsen B, Sobrido MJ. Blanco-Arias P, et al. Among authors: toustrup jensen ms. Hum Mol Genet. 2009 Jul 1;18(13):2370-7. doi: 10.1093/hmg/ddp170. Epub 2009 Apr 7. Hum Mol Genet. 2009. PMID: 19351654
12 results