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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. Among authors: sweadner kj. 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.
The FXYD1 protein plays a protective role against pulmonary hypertension and arterial remodeling via redox and inflammatory mechanisms.
Hansen TS, Karimi Galougahi K, Tang O, Tsang M, Scherrer-Crosbie M, Arystarkhova E, Sweadner K, Bursill C, Bubb KJ, Figtree GA. Hansen TS, et al. Among authors: sweadner k. Am J Physiol Heart Circ Physiol. 2024 Mar 1;326(3):H623-H635. doi: 10.1152/ajpheart.00090.2023. Epub 2023 Dec 22. Am J Physiol Heart Circ Physiol. 2024. PMID: 38133617
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: sweadner kj. 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.
Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations.
Hoshino K, Sweadner KJ, Kawarai T, Saute JA, Freitas J, Damásio J, Donis KC, Kimura K, Fukuda H, Hayashi M, Higuchi T, Ikeda Y, Ozelius LJ, Kaji R. Hoshino K, et al. Among authors: sweadner kj. Neurol Genet. 2021 Mar 15;7(2):e562. doi: 10.1212/NXG.0000000000000562. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33977143 Free PMC article. No abstract available.
117 results