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Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM, Reincke M. Beuschlein F, et al. Among authors: vilsen b. Nat Genet. 2013 Apr;45(4):440-4, 444e1-2. doi: 10.1038/ng.2550. Epub 2013 Feb 17. Nat Genet. 2013. PMID: 23416519
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: vilsen b. 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.
Identification and function of a cytoplasmic K+ site of the Na+, K+ -ATPase.
Schack VR, Morth JP, Toustrup-Jensen MS, Anthonisen AN, Nissen P, Andersen JP, Vilsen B. Schack VR, et al. Among authors: vilsen b. J Biol Chem. 2008 Oct 10;283(41):27982-27990. doi: 10.1074/jbc.M803506200. Epub 2008 Jul 31. J Biol Chem. 2008. PMID: 18669634 Free article.
Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.
Williams TA, Monticone S, Schack VR, Stindl J, Burrello J, Buffolo F, Annaratone L, Castellano I, Beuschlein F, Reincke M, Lucatello B, Ronconi V, Fallo F, Bernini G, Maccario M, Giacchetti G, Veglio F, Warth R, Vilsen B, Mulatero P. Williams TA, et al. Among authors: vilsen b. Hypertension. 2014 Jan;63(1):188-95. doi: 10.1161/HYPERTENSIONAHA.113.01733. Epub 2013 Sep 30. Hypertension. 2014. PMID: 24082052 Free 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. Among authors: vilsen b. 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.
122 results