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Items: 1 to 20 of 58

1.
Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms
Yingji Li, Wenjing Tang, Li Kang, Shanshan Kong, Zhao Dong, Dengfa Zhao, Ruozhuo Liu, Shengyuan Yu
J Headache Pain. 2021; 22(1): 92. Published online 2021 Aug 12. doi: 10.1186/s10194-021-01309-4
PMCID:
PMC8359390
AbstractArticlePDF–2.4M
2.
Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2
Fabio Antonaci, Sabrina Ravaglia, Gaetano S. Grieco, Stella Gagliardi, Cristina Cereda, Alfredo Costa
J Headache Pain. 2021; 22(1): 12. Published online 2021 Mar 12. doi: 10.1186/s10194-021-01221-x
PMCID:
PMC7953819
AbstractArticlePDF–1.1M
3.
Early Onset Severe ATP1A2 Epileptic Encephalopathy: Clinical Characteristics and Underlying Mutations
Mary E. Moya-Mendez, David M. Mueller, Milton Pratt, Melanie Bonner, Courtney Elliott, Arsen Hunanyan, Gary Kucera, Cheryl Bock, Lyndsey Prange, Joan Jasien, Karen Keough, Vandana Shashi, Marie McDonald, Mohamad A. Mikati
Epilepsy Behav. Author manuscript; available in PMC 2022 Mar 1.
Published in final edited form as: Epilepsy Behav. 2021 Mar; 116: 107732. Published online 2021 Jan 23. doi: 10.1016/j.yebeh.2020.107732
PMCID:
PMC7940561
AbstractArticlePDF–575K
4.
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms
Marisol Sampedro Castañeda, Edmar Zanoteli, Renata S Scalco, Vinicius Scaramuzzi, Vitor Marques Caldas, Umbertina Conti Reed, Andre Macedo Serafim da Silva, Benjamin O’Callaghan, Rahul Phadke, Enrico Bugiardini, Richa Sud, Samuel McCall, Michael G Hanna, Hanne Poulsen, Roope Männikkö, Emma Matthews
Brain. 2018 Dec; 141(12): 3308–3318. Published online 2018 Nov 12. doi: 10.1093/brain/awy283
PMCID:
PMC6262219
AbstractArticlePDF–1.2M
5.
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine
Se-Kyung Oh, Jeong-In Baek, Karl M Weigand, Hanka Venselaar, Herman G P Swarts, Seong-Hyun Park, Muhammad Hashim Raza, Da Jung Jung, Soo-Young Choi, Sang-Heun Lee, Thomas Friedrich, Gert Vriend, Jan B Koenderink, Un-Kyung Kim, Kyu-Yup Lee
Eur J Hum Genet. 2015 May; 23(5): 639–645. Published online 2014 Aug 20. doi: 10.1038/ejhg.2014.154
PMCID:
PMC4402630
AbstractArticlePDF–2.0M
6.
Rescue of Na+ Affinity in Aspartate 928 Mutants of Na+,K+-ATPase by Secondary Mutation of Glutamate 314
Rikke Holm, Anja P. Einholm, Jens P. Andersen, Bente Vilsen
J Biol Chem. 2015 Apr 10; 290(15): 9801–9811. Published online 2015 Feb 24. doi: 10.1074/jbc.M114.625509
PMCID:
PMC4392278
AbstractArticlePDF–3.1M
7.
Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2)
José Barros, Alexandre Mendes, Ilda Matos, José Pereira-Monteiro
J Headache Pain. 2012 Oct; 13(7): 581–585. Published online 2012 Jun 5. doi: 10.1007/s10194-012-0462-5
PMCID:
PMC3444541
AbstractArticlePDF–196K
8.
Inhibition of Phosphorylation of Na+,K+-ATPase by Mutations Causing Familial Hemiplegic Migraine
Vivien Rodacker Schack, Rikke Holm, Bente Vilsen
J Biol Chem. 2012 Jan 13; 287(3): 2191–2202. Published online 2011 Nov 23. doi: 10.1074/jbc.M111.323022
PMCID:
PMC3265897
AbstractArticlePDF–4.2M
9.
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood
M Bassi, N Bresolin, A Tonelli, K Nazos, F Crippa, C Baschirotto, C Zucca, A Bersano, D Dolcetta, F Boneschi, V Barone, G Casari
J Med Genet. 2004 Aug; 41(8): 621–628. doi: 10.1136/jmg.2003.017863
PMCID:
PMC1735877
SummaryPDF–293K
10.
Na+ transport in the normal and failing heart – remember the balance
Sanda Despa, Donald M. Bers
J Mol Cell Cardiol. Author manuscript; available in PMC 2014 Aug 1.
Published in final edited form as: J Mol Cell Cardiol. 2013 Aug; 61: 2–10. Published online 2013 Apr 19. doi: 10.1016/j.yjmcc.2013.04.011
PMCID:
PMC3720717
AbstractArticlePDF–618K
11.
The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations
J. Preben Morth, Hanne Poulsen, Mads S. Toustrup-Jensen, Vivien Rodacker Schack, Jan Egebjerg, Jens Peter Andersen, Bente Vilsen, Poul Nissen
Philos Trans R Soc Lond B Biol Sci. 2009 Jan 27; 364(1514): 217–227. Published online 2008 Oct 28. doi: 10.1098/rstb.2008.0201
PMCID:
PMC2674101
AbstractArticlePDF–3.6M
12.
Alterations in the α2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2
Laura Segall, Alessandra Mezzetti, Rosemarie Scanzano, J. Jay Gargus, Enrico Purisima, Rhoda Blostein
Proc Natl Acad Sci U S A. 2005 Aug 2; 102(31): 11106–11111. Published online 2005 Jul 21. doi: 10.1073/pnas.0504323102
PMCID:
PMC1178013
AbstractArticlePDF–618K
13.
Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine
Andreas Hoiberg Rasmussen, Isa Olofsson, Mona Ameri Chalmer, Jes Olesen, Thomas Folkmann Hansen
J Med Genet. 2020 Sep; 57(9): 610–616. Published online 2020 Jan 24. doi: 10.1136/jmedgenet-2019-106640
PMCID:
PMC7476275
AbstractArticlePDF–1.3M
14.
Degeneration of the Amygdala/Piriform Cortex and Enhanced Fear/Anxiety Behaviors in Sodium Pump α2 Subunit (Atp1a2)-Deficient Mice
Keiko Ikeda, Tatsushi Onaka, Makoto Yamakado, Junichi Nakai, Tomo-o Ishikawa, Makoto M. Taketo, Kiyoshi Kawakami
J Neurosci. 2003 Jun 1; 23(11): 4667–4676. doi: 10.1523/JNEUROSCI.23-11-04667.2003
PMCID:
PMC6740785
AbstractArticlePDF–899K
15.
Protein Kinase A (PKA) Phosphorylation of Na+/K+-ATPase Opens Intracellular C-terminal Water Pathway Leading to Third Na+-binding site in Molecular Dynamics Simulations
Hanne Poulsen, Poul Nissen, Ole G. Mouritsen, Himanshu Khandelia
J Biol Chem. 2012 May 4; 287(19): 15959–15965. Published online 2012 Mar 20. doi: 10.1074/jbc.M112.340406
PMCID:
PMC3346126
AbstractArticlePDF–1.1M
16.
Targeted Mutations in the Na,K-ATPase Alpha 2 Isoform Confer Ouabain Resistance and Result in Abnormal Behavior in Mice
Tori L. Schaefer, Jerry B Lingrel, Amy E. Moseley, Charles V. Vorhees, Michael T. Williams
Synapse. Author manuscript; available in PMC 2012 Mar 1.
Published in final edited form as: Synapse. 2011 Jun; 65(6): 520–531. Published online 2010 Nov 17. doi: 10.1002/syn.20870
PMCID:
PMC3070835
AbstractArticlePDF–718K
17.
Na,K-ATPase subunit isoforms in human reticulocytes: Evidence from reverse transcription–PCR for the presence of α1, α3, β2, β3, and γ
Martin K. Stengelin, Joseph F. Hoffman
Proc Natl Acad Sci U S A. 1997 May 27; 94(11): 5943–5948. doi: 10.1073/pnas.94.11.5943
PMCID:
PMC20886
AbstractArticlePDF–323K
18.
Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes
Izabela Domitrz, Michalina Kosiorek, Cezary Żekanowski, Anna Kamińska
Hum Genomics. 2016; 10: 3. Published online 2016 Jan 8. doi: 10.1186/s40246-015-0057-8
PMCID:
PMC4706665
AbstractArticlePDF–3.3M
19.
Relationship between Intracellular Na+ Concentration and Reduced Na+ Affinity in Na+,K+-ATPase Mutants Causing Neurological Disease
Mads S. Toustrup-Jensen, Anja P. Einholm, Vivien R. Schack, Hang N. Nielsen, Rikke Holm, María-Jesús Sobrido, Jens P. Andersen, Torben Clausen, Bente Vilsen
J Biol Chem. 2014 Feb 7; 289(6): 3186–3197. Published online 2013 Dec 19. doi: 10.1074/jbc.M113.543272
PMCID:
PMC3916523
AbstractArticlePDF–1.8M
20.
Hyperpolarization-activated inward leakage currents caused by deletion or mutation of carboxy-terminal tyrosines of the Na+/K+-ATPase α subunit
Susan Meier, Neslihan N. Tavraz, Katharina L. Dürr, Thomas Friedrich
J Gen Physiol. 2010 Feb; 135(2): 115–134. doi: 10.1085/jgp.200910301
PMCID:
PMC2812498
AbstractArticlePDF–3.3M

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