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Items: 1 to 50 of 110

1.

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.

Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J.

Mol Genet Metab Rep. 2018 Jun 15;16:23-29. doi: 10.1016/j.ymgmr.2018.06.001. eCollection 2018 Sep.

2.

ATP1A3-Related Neurologic Disorders.

Brashear A, Sweadner KJ, Cook JF, Swoboda KJ, Ozelius L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Feb 7 [updated 2018 Feb 22].

3.

Impaired AQP2 trafficking in Fxyd1 knockout mice: A role for FXYD1 in regulated vesicular transport.

Arystarkhova E, Bouley R, Liu YB, Sweadner KJ.

PLoS One. 2017 Nov 20;12(11):e0188006. doi: 10.1371/journal.pone.0188006. eCollection 2017.

4.

Structural biology: An ion-transport enzyme that rocks.

Sweadner KJ.

Nature. 2017 May 11;545(7653):162-164. doi: 10.1038/nature22492. Epub 2017 May 3. No abstract available.

PMID:
28467825
5.

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

Rosewich H, Sweney MT, DeBrosse S, Ess K, Ozelius L, Andermann E, Andermann F, Andrasco G, Belgrade A, Brashear A, Ciccodicola S, Egan L, George AL Jr, Lewelt A, Magelby J, Merida M, Newcomb T, Platt V, Poncelin D, Reyna S, Sasaki M, Sotero de Menezes M, Sweadner K, Viollet L, Zupanc M, Silver K, Swoboda K.

Neurol Genet. 2017 Mar 2;3(2):e139. doi: 10.1212/NXG.0000000000000139. eCollection 2017 Apr.

6.

ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

Sweadner KJ, Toro C, Whitlow CT, Snively BM, Cook JF, Ozelius LJ, Markello TC, Brashear A.

PLoS One. 2016 Mar 18;11(3):e0151429. doi: 10.1371/journal.pone.0151429. eCollection 2016.

7.

A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1.

Liu YB, Tewari A, Salameh J, Arystarkhova E, Hampton TG, Brashear A, Ozelius LJ, Khodakhah K, Sweadner KJ.

Elife. 2015 Dec 24;4. pii: e11102. doi: 10.7554/eLife.11102.

8.

Functional Studies of Na(+),K(+)-ATPase Using Transfected Cell Cultures.

Arystarkhova E, Sweadner KJ.

Methods Mol Biol. 2016;1377:321-32. doi: 10.1007/978-1-4939-3179-8_28.

PMID:
26695043
9.

Colorimetric Assays of Na,K-ATPase.

Sweadner KJ.

Methods Mol Biol. 2016;1377:89-104. doi: 10.1007/978-1-4939-3179-8_10.

PMID:
26695025
10.

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S.

Epilepsia. 2015 Mar;56(3):422-30. doi: 10.1111/epi.12914. Epub 2015 Feb 5.

11.

Paradoxical activation of the sodium chloride cotransporter (NCC) without hypertension in kidney deficient in a regulatory subunit of Na,K-ATPase, FXYD2.

Arystarkhova E, Ralph DL, Liu YB, Bouley R, McDonough AA, Sweadner KJ.

Physiol Rep. 2014 Dec 3;2(12). pii: e12226. doi: 10.14814/phy2.12226. Print 2014 Dec 1.

12.

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.

Oblak AL, Hagen MC, Sweadner KJ, Haq I, Whitlow CT, Maldjian JA, Epperson F, Cook JF, Stacy M, Murrell JR, Ozelius LJ, Brashear A, Ghetti B.

Acta Neuropathol. 2014 Jul;128(1):81-98. doi: 10.1007/s00401-014-1279-x. Epub 2014 May 7.

13.

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.

Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Review.

14.

Cognitive impairment in rapid-onset dystonia-parkinsonism.

Cook JF, Hill DF, Snively BM, Boggs N, Suerken CK, Haq I, Stacy M, McCall WV, Ozelius LJ, Sweadner KJ, Brashear A.

Mov Disord. 2014 Mar;29(3):344-50. doi: 10.1002/mds.25790. Epub 2014 Jan 16.

15.

ATP1A3 mutations: what is the phenotype?

Brashear A, Ozelius LJ, Sweadner KJ.

Neurology. 2014 Feb 11;82(6):468-9. doi: 10.1212/WNL.0000000000000113. Epub 2014 Jan 15. No abstract available.

PMID:
24431297
16.

Oxidative inhibition of the vascular Na+-K+ pump via NADPH oxidase-dependent β1-subunit glutathionylation: implications for angiotensin II-induced vascular dysfunction.

Liu CC, Karimi Galougahi K, Weisbrod RM, Hansen T, Ravaie R, Nunez A, Liu YB, Fry N, Garcia A, Hamilton EJ, Sweadner KJ, Cohen RA, Figtree GA.

Free Radic Biol Med. 2013 Dec;65:563-572. doi: 10.1016/j.freeradbiomed.2013.06.040. Epub 2013 Jun 28.

17.

Hyperplasia of pancreatic beta cells and improved glucose tolerance in mice deficient in the FXYD2 subunit of Na,K-ATPase.

Arystarkhova E, Liu YB, Salazar C, Stanojevic V, Clifford RJ, Kaplan JH, Kidder GM, Sweadner KJ.

J Biol Chem. 2013 Mar 8;288(10):7077-85. doi: 10.1074/jbc.M112.401190. Epub 2013 Jan 23.

18.

Psychiatric disorders in rapid-onset dystonia-parkinsonism.

Brashear A, Cook JF, Hill DF, Amponsah A, Snively BM, Light L, Boggs N, Suerken CK, Stacy M, Ozelius L, Sweadner KJ, McCall WV.

Neurology. 2012 Sep 11;79(11):1168-73. doi: 10.1212/WNL.0b013e3182698d6c. Epub 2012 Aug 29.

19.

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

Brashear A, Mink JW, Hill DF, Boggs N, McCall WV, Stacy MA, Snively B, Light LS, Sweadner KJ, Ozelius LJ, Morrison L.

Dev Med Child Neurol. 2012 Nov;54(11):1065-7. doi: 10.1111/j.1469-8749.2012.04421.x. Epub 2012 Aug 28. Review.

20.

New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

Barbano RL, Hill DF, Snively BM, Light LS, Boggs N, McCall WV, Stacy M, Ozelius L, Sweadner KJ, Brashear A.

Parkinsonism Relat Disord. 2012 Jul;18(6):737-41. doi: 10.1016/j.parkreldis.2012.03.020. Epub 2012 Apr 24.

21.

Post-transcriptional control of Na,K-ATPase activity and cell growth by a splice variant of FXYD2 protein with modified mRNA.

Sweadner KJ, Pascoa JL, Salazar CA, Arystarkhova E.

J Biol Chem. 2011 May 20;286(20):18290-300. doi: 10.1074/jbc.M111.241901. Epub 2011 Apr 1.

22.

FXYD proteins reverse inhibition of the Na+-K+ pump mediated by glutathionylation of its beta1 subunit.

Bibert S, Liu CC, Figtree GA, Garcia A, Hamilton EJ, Marassi FM, Sweadner KJ, Cornelius F, Geering K, Rasmussen HH.

J Biol Chem. 2011 May 27;286(21):18562-72. doi: 10.1074/jbc.M110.184101. Epub 2011 Mar 30.

23.

Case records of the Massachusetts General Hospital. Case 17-2010 - a 29-year-old woman with flexion of the left hand and foot and difficulty speaking.

Tarsy D, Sweadner KJ, Song PC.

N Engl J Med. 2010 Jun 10;362(23):2213-9. doi: 10.1056/NEJMcpc1002112. No abstract available.

PMID:
20558373
24.

Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

Anselm IA, Sweadner KJ, Gollamudi S, Ozelius LJ, Darras BT.

Neurology. 2009 Aug 4;73(5):400-1. doi: 10.1212/WNL.0b013e3181b04acd. No abstract available.

25.

A third mode of ouabain signaling. Focus on "Regulation of ERK1/2 by ouabain and Na-K-ATPase-dependent energy utilization and AMPK activation in parotid acinar cells".

Sweadner KJ.

Am J Physiol Cell Physiol. 2008 Sep;295(3):C588-9. doi: 10.1152/ajpcell.00388.2008. Epub 2008 Aug 6. No abstract available.

26.

Multiplicity of expression of FXYD proteins in mammalian cells: dynamic exchange of phospholemman and gamma-subunit in response to stress.

Arystarkhova E, Donnet C, Muñoz-Matta A, Specht SC, Sweadner KJ.

Am J Physiol Cell Physiol. 2007 Mar;292(3):C1179-91. Epub 2006 Oct 18.

27.

Splice variants of the gamma subunit (FXYD2) and their significance in regulation of the Na, K-ATPase in kidney.

Arystarkhova E, Sweadner KJ.

J Bioenerg Biomembr. 2005 Dec;37(6):381-6. Review.

PMID:
16691469
28.

Phospholemman: a new force in cardiac contractility.

Sweadner KJ.

Circ Res. 2005 Sep 16;97(6):510-1. No abstract available.

PMID:
16166561
29.

Na,K-ATPase from mice lacking the gamma subunit (FXYD2) exhibits altered Na+ affinity and decreased thermal stability.

Jones DH, Li TY, Arystarkhova E, Barr KJ, Wetzel RK, Peng J, Markham K, Sweadner KJ, Fong GH, Kidder GM.

J Biol Chem. 2005 May 13;280(19):19003-11. Epub 2005 Mar 8.

30.

Hypertrophy, increased ejection fraction, and reduced Na-K-ATPase activity in phospholemman-deficient mice.

Jia LG, Donnet C, Bogaev RC, Blatt RJ, McKinney CE, Day KH, Berr SS, Jones LR, Moorman JR, Sweadner KJ, Tucker AL.

Am J Physiol Heart Circ Physiol. 2005 Apr;288(4):H1982-8. Epub 2004 Nov 24.

31.

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ.

Neuron. 2004 Jul 22;43(2):169-75.

32.

NO regulation of Na,K-ATPase: nitric oxide regulation of the Na,K-ATPase in physiological and pathological states.

Ellis DZ, Sweadner KJ.

Ann N Y Acad Sci. 2003 Apr;986:534-5. No abstract available.

PMID:
12763880
33.

FXYD proteins as regulators of the Na,K-ATPase in the kidney.

Sweadner KJ, Arystarkhova E, Donnet C, Wetzel RK.

Ann N Y Acad Sci. 2003 Apr;986:382-7.

PMID:
12763854
34.

The mechanism of Na-K interaction on Na,K-ATPase.

Donnet C, Sweadner KJ.

Ann N Y Acad Sci. 2003 Apr;986:249-51. No abstract available.

PMID:
12763810
35.

Phospholemman, a single-span membrane protein, is an accessory protein of Na,K-ATPase in cerebellum and choroid plexus.

Feschenko MS, Donnet C, Wetzel RK, Asinovski NK, Jones LR, Sweadner KJ.

J Neurosci. 2003 Mar 15;23(6):2161-9.

36.

Phospholemman expression in extraglomerular mesangium and afferent arteriole of the juxtaglomerular apparatus.

Wetzel RK, Sweadner KJ.

Am J Physiol Renal Physiol. 2003 Jul;285(1):F121-9. Epub 2003 Mar 25.

38.

The Na,K-ATPase alpha 2 isoform is expressed in neurons, and its absence disrupts neuronal activity in newborn mice.

Moseley AE, Lieske SP, Wetzel RK, James PF, He S, Shelly DA, Paul RJ, Boivin GP, Witte DP, Ramirez JM, Sweadner KJ, Lingrel JB.

J Biol Chem. 2003 Feb 14;278(7):5317-24. Epub 2002 Nov 27.

39.

A novel cAMP-stimulated pathway in protein phosphatase 2A activation.

Feschenko MS, Stevenson E, Nairn AC, Sweadner KJ.

J Pharmacol Exp Ther. 2002 Jul;302(1):111-8.

40.

Distribution and oligomeric association of splice forms of Na(+)-K(+)-ATPase regulatory gamma-subunit in rat kidney.

Arystarkhova E, Wetzel RK, Sweadner KJ.

Am J Physiol Renal Physiol. 2002 Mar;282(3):F393-407.

41.

Differential regulation of renal Na,K-ATPase by splice variants of the gamma subunit.

Arystarkhova E, Donnet C, Asinovski NK, Sweadner KJ.

J Biol Chem. 2002 Mar 22;277(12):10162-72. Epub 2001 Dec 27.

42.

Carbachol and nitric oxide inhibition of Na,K-ATPase activity in bovine ciliary processes.

Ellis DZ, Nathanson JA, Rabe J, Sweadner KJ.

Invest Ophthalmol Vis Sci. 2001 Oct;42(11):2625-31.

PMID:
11581209
43.

Immunocytochemical localization of Na-K-ATPase alpha- and gamma-subunits in rat kidney.

Wetzel RK, Sweadner KJ.

Am J Physiol Renal Physiol. 2001 Sep;281(3):F531-45.

44.

Structural similarities of Na,K-ATPase and SERCA, the Ca(2+)-ATPase of the sarcoplasmic reticulum.

Sweadner KJ, Donnet C.

Biochem J. 2001 Jun 15;356(Pt 3):685-704. Review.

45.

Predicted location and limited accessibility of protein kinase A phosphorylation site on Na-K-ATPase.

Sweadner KJ, Feschenko MS.

Am J Physiol Cell Physiol. 2001 Apr;280(4):C1017-26.

46.

Immunocytochemical localization of NaK-ATPase isoforms in the rat and mouse ocular ciliary epithelium.

Wetzel RK, Sweadner KJ.

Invest Ophthalmol Vis Sci. 2001 Mar;42(3):763-9.

PMID:
11222539
47.

Genomic organization of the human FXYD2 gene encoding the gamma subunit of the Na,K-ATPase.

Sweadner KJ, Wetzel RK, Arystarkhova E.

Biochem Biophys Res Commun. 2000 Dec 9;279(1):196-201.

PMID:
11112438
48.
49.

Carbachol inhibits Na(+)-K(+)-ATPase activity in choroid plexus via stimulation of the NO/cGMP pathway.

Ellis DZ, Nathanson JA, Sweadner KJ.

Am J Physiol Cell Physiol. 2000 Dec;279(6):C1685-93.

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