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Items: 1 to 20 of 68

1.
ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids
Yang You, Zhengrong Zhang, Nadia Sultana, Maria Ericsson, Yuka A. Martens, Min Sun, Takahisa Kanekiyo, Seiko Ikezu, Scott A. Shaffer, Tsuneya Ikezu
Sci Adv. 2023 Sep; 9(37): eadi3647. Published online 2023 Sep 15. doi: 10.1126/sciadv.adi3647
PMCID:
PMC10881047
AbstractArticlePDF–1.7M
2.
Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features
Suad A. Alyamani, Hesham M. Aldhalaan, Mohammed A. Almuhaizea, Musaad F. Abukhalid
Neurosciences (Riyadh) 2023 Jul; 28(3): 195–198. doi: 10.17712/nsj.2023.3.20220131
PMCID:
PMC10519661
AbstractArticlePDF–425K
3.
Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome
Elena Arystarkhova, Mads S. Toustrup-Jensen, Rikke Holm, Jae-Kyun Ko, Kyung Eun Lee, Polina Feschenko, Laurie J. Ozelius, Allison Brashear, Bente Vilsen, Kathleen J. Sweadner
J Biol Chem. 2023 Jan; 299(1): 102758. Published online 2022 Dec 1. doi: 10.1016/j.jbc.2022.102758
PMCID:
PMC9860391
AbstractArticlePDF–3.7M
4.
The Phenotypic Continuum of ATP1A3-Related Disorders
Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder-Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R. Mordekar, Miranda Splitt, Peter D. Turnpenny, Demetria Demetriou, Tamara T. Koopmann, Claudia A.L. Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian
Neurology. 2022 Oct 4; 99(14): e1511–e1526. doi: 10.1212/WNL.0000000000200927
PMCID:
PMC9576304
AbstractArticlePDF–703K
5.
ATP1A3‐Encoded Sodium‐Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia
Mary E. Moya‐Mendez, Chiagoziem Ogbonna, Jordan E. Ezekian, Michael B. Rosamilia, Lyndsey Prange, Caridad de la Uz, Jeffrey J. Kim, Taylor Howard, John Garcia, Robert Nussbaum, Rebecca Truty, Thomas E. Callis, Emily Funk, Matthew Heyes, Guy de Lisle Dear, Michael P. Carboni, Salim F. Idriss, Mohamad A. Mikati, Andrew P. Landstrom
J Am Heart Assoc. 2021 Sep 7; 10(17): e019887. Published online 2021 Aug 28. doi: 10.1161/JAHA.120.019887
PMCID:
PMC8649289
AbstractArticlePDF–9.1M
6.
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review
Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska‐Smiech, Aleksandra Lewandowicz‐Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior‐Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Rafal Ploski, Robert Smigiel
Mol Genet Genomic Med. 2021 Sep; 9(9): e1772. Published online 2021 Aug 2. doi: 10.1002/mgg3.1772
PMCID:
PMC8457706
AbstractArticlePDF–775K
7.
Early role for a Na+,K+-ATPase (ATP1A3) in brain development
Richard S. Smith, Marta Florio, Shyam K. Akula, Jennifer E. Neil, Yidi Wang, R. Sean Hill, Melissa Goldman, Christopher D. Mullally, Nora Reed, Luis Bello-Espinosa, Laura Flores-Sarnat, Fabiola Paoli Monteiro, Casella B. Erasmo, Filippo Pinto e Vairo, Eva Morava, A. James Barkovich, Joseph Gonzalez-Heydrich, Catherine A. Brownstein, Steven A. McCarroll, Christopher A. Walsh
Proc Natl Acad Sci U S A. 2021 Jun 22; 118(25): e2023333118. Published online 2021 Jun 14. doi: 10.1073/pnas.2023333118
PMCID:
PMC8237684
AbstractArticlePDF–2.0M
8.
Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations
Elena Arystarkhova, Laurie J. Ozelius, Allison Brashear, Kathleen J. Sweadner
J Biol Chem. 2021 Jan-Jun; 296: 100019. Published online 2020 Nov 22. doi: 10.1074/jbc.RA120.015271
PMCID:
PMC7949067
AbstractArticlePDF–1.9M
9.
ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children
Masayuki Sasaki, Noriko Sumitomo, Yuko Shimizu‐Motohashi, Eri Takeshita, Kenji Kurosawa, Kenjiro Kosaki, Kazuhiro Iwama, Takeshi Mizuguchi, Naomichi Matsumoto
Dev Med Child Neurol. 2021 Jan; 63(1): 111–115. Published online 2020 Sep 7. doi: 10.1111/dmcn.14666
Correction in:
Dev Med Child Neurol. 2022 May; 64(5): 668.
PMCID:
PMC7754140
AbstractArticlePDF–1.1M
10.
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study
Simona Balestrini, Mohamad A. Mikati, Reyes Álvarez-García-Rovés, Michael Carboni, Arsen S. Hunanyan, Bassil Kherallah, Melissa McLean, Lyndsey Prange, Elisa De Grandis, Alessandra Gagliardi, Livia Pisciotta, Michela Stagnaro, Edvige Veneselli, Jaume Campistol, Carmen Fons, Leticia Pias-Peleteiro, Allison Brashear, Charlotte Miller, Raquel Samões, Vesna Brankovic, Quasar S. Padiath, Ana Potic, Jacek Pilch, Aikaterini Vezyroglou, Ann M.E. Bye, Andrew M. Davis, Monique M. Ryan, Christopher Semsarian, Georgina Hollingsworth, Ingrid E. Scheffer, Tiziana Granata, Nardo Nardocci, Francesca Ragona, Alexis Arzimanoglou, Eleni Panagiotakaki, Inês Carrilho, Claudio Zucca, Jan Novy, Karolina Dzieżyc, Marek Parowicz, Maria Mazurkiewicz-Bełdzińska, Sarah Weckhuysen, Roser Pons, Sergiu Groppa, Daniel S. Sinden, Geoffrey S. Pitt, Andrew Tinker, Michael Ashworth, Zuzanna Michalak, Maria Thom, J. Helen Cross, Rosaria Vavassori, Juan P. Kaski, Sanjay M. Sisodiya
Neurology. 2020 Nov 24; 95(21): e2866–e2879. doi: 10.1212/WNL.0000000000010794
PMCID:
PMC7734736
AbstractArticlePDF–1.2M
11.
Factors in the disease severity of ATP1A3 mutations: impairment, misfolding, and allele competition
Elena Arystarkhova, Ihtsham U. Haq, Timothy Luebbert, Fanny Mochel, Rachel Saunders-Pullman, Susan B. Bressman, Polina Feschenko, Cynthia Salazar, Jared F. Cook, Scott Demarest, Allison Brashear, Laurie J. Ozelius, Kathleen J. Sweadner
Neurobiol Dis. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Neurobiol Dis. 2019 Dec; 132: 104577. Published online 2019 Aug 16. doi: 10.1016/j.nbd.2019.104577
PMCID:
PMC7397496
AbstractArticlePDF–1.5M
12.
Revising Rapid-Onset Dystonia-Parkinsonism: broadening indications for ATP1A3 testing
Ihtsham U. Haq, Beverly M. Snively, Kathleen J. Sweadner, Cynthia K. Suerken, Jared F. Cook, Laurie J. Ozelius, Charlotte Miller, William V. McCall, Christopher Whitlow, Allison Brashear
Mov Disord. Author manuscript; available in PMC 2020 Oct 1.
Published in final edited form as: Mov Disord. 2019 Oct; 34(10): 1528–1536. Published online 2019 Jul 30. doi: 10.1002/mds.27801
PMCID:
PMC6879786
AbstractArticlePDF–852K
13.
ATP1A3 mosaicism in families with alternating hemiplegia of childhood
Xiaoling Yang, Xiaoxu Yang, Jiaoyang Chen, Shupin Li, Qi Zeng, August Y. Huang, Adam Y. Ye, Zhe Yu, Sheng Wang, Yuwu Jiang, Xiru Wu, Qixi Wu, Liping Wei, Yuehua Zhang
Clin Genet. 2019 Jul; 96(1): 43–52. Published online 2019 Apr 3. doi: 10.1111/cge.13539
PMCID:
PMC6850116
AbstractArticlePDF–1.9M
14.
Functional consequences of the CAPOS mutation E818K of Na+,K+-ATPase
Christian P. Roenn, Melody Li, Vivien R. Schack, Ian C. Forster, Rikke Holm, Mads S. Toustrup-Jensen, Jens P. Andersen, Steven Petrou, Bente Vilsen
J Biol Chem. 2019 Jan 4; 294(1): 269–280. Published online 2018 Nov 8. doi: 10.1074/jbc.RA118.004591
PMCID:
PMC6322875
AbstractArticlePDF–2.6M
15.
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy
Kyu-Hee Han, Doo-Yi Oh, Seungmin Lee, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Moo Kyun Park, Nayoung K. D. Kim, Jaekwang Lee, Eunyoung Yi, Jong-Min Kim, Jeong-Whun Kim, Jong-Hee Chae, Seung Ha Oh, Woong-Yang Park, Byung Yoon Choi
Sci Rep. 2017; 7: 16504. Published online 2017 Nov 28. doi: 10.1038/s41598-017-16676-9
PMCID:
PMC5705773
AbstractArticlePDF–3.1M
16.
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
Fatima Jaffer, Andreja Avbersek, Rosaria Vavassori, Carmen Fons, Jaume Campistol, Michela Stagnaro, Elisa De Grandis, Edvige Veneselli, Hendrik Rosewich, Melania Gianotta, Claudio Zucca, Francesca Ragona, Tiziana Granata, Nardo Nardocci, Mohamed Mikati, Ashley R. Helseth, Cyrus Boelman, Berge A. Minassian, Sophia Johns, Sarah I. Garry, Ingrid E. Scheffer, Isabelle Gourfinkel-An, Ines Carrilho, Sarah E. Aylett, Matthew Parton, Michael G. Hanna, Henry Houlden, Brian Neville, Manju A. Kurian, Jan Novy, Josemir W. Sander, Pier D. Lambiase, Elijah R. Behr, Tsveta Schyns, Alexis Arzimanoglou, J. Helen Cross, Juan P. Kaski, Sanjay M. Sisodiya
Brain. 2015 Oct; 138(10): 2859–2874. Published online 2015 Aug 21. doi: 10.1093/brain/awv243
PMCID:
PMC4671482
AbstractArticlePDF–875K
17.
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients
Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Erin L. Heinzen, Carmen Fons, Sanjay Sisodiya, Boukje de Vries, Christophe Goubau, Sarah Weckhuysen, David Kemlink, Ingrid Scheffer, Gaëtan Lesca, Muriel Rabilloud, Amna Klich, Alia Ramirez-Camacho, Adriana Ulate-Campos, Jaume Campistol, Melania Giannotta, Marie-Laure Moutard, Diane Doummar, Cecile Hubsch-Bonneaud, Fatima Jaffer, Helen Cross, Fiorella Gurrieri, Danilo Tiziano, Sona Nevsimalova, Sophie Nicole, Brian Neville, Arn M. J. M. van den Maagdenberg, Mohamad Mikati, David B. Goldstein, Rosaria Vavassori, Alexis Arzimanoglou, The Italian IBAHC Consortium, The French AHC Consortium, The International AHC Consortium
Orphanet J Rare Dis. 2015; 10: 123. Published online 2015 Sep 26. doi: 10.1186/s13023-015-0335-5
PMCID:
PMC4583741
AbstractArticlePDF–1010K
18.
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
Louis Viollet, Gustavo Glusman, Kelley J. Murphy, Tara M. Newcomb, Sandra P. Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L. Barbano, Candida Brown, Mary E. Brunkow, Harry T. Chugani, Sarah R. Cheyette, Abigail Collins, Suzanne D. DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B. Jorde, Mary D. King, Bernie LaSalle, Richard J. Leventer, Aga J. Lewelt, Mylynda B. Massart, Mario R. Mérida, II, Louis J. Ptáček, Jared C. Roach, Robert S. Rust, Francis Renault, Terry D. Sanger, Marcio A. Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J. Swoboda
PLoS One. 2015; 10(5): e0127045. Published online 2015 May 21. doi: 10.1371/journal.pone.0127045
Correction in:
PLoS One. 2015; 10(8): e0137370.
PMCID:
PMC4440742
AbstractArticlePDF–1.1M
19.
The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond
Matthew T. Sweney, Tara M. Newcomb, Kathryn J. Swoboda
Pediatr Neurol. Author manuscript; available in PMC 2016 Jan 1.
Published in final edited form as: Pediatr Neurol. 2015 Jan; 52(1): 56–64. Published online 2014 Oct 13. doi: 10.1016/j.pediatrneurol.2014.09.015
PMCID:
PMC4352574
AbstractArticlePDF–213K
20.
Distinct neurological disorders with ATP1A3 mutations
Erin L. Heinzen, Alexis Arzimanoglou, Allison Brashear, Steven J. Clapcote, Fiorella Gurrieri, David B. Goldstein, Sigurður H. Jóhannesson, Mohamad A. Mikati, Brian Neville, Sophie Nicole, Laurie J. Ozelius, Hanne Poulsen, Tsveta Schyns, Kathleen J. Sweadner, Arn van den Maagdenberg, Bente Vilsen, ATP1A3 Working Group
Lancet Neurol. Author manuscript; available in PMC 2015 May 1.
Published in final edited form as: Lancet Neurol. 2014 May; 13(5): 503–514. doi: 10.1016/S1474-4422(14)70011-0
PMCID:
PMC4238309
AbstractArticlePDF–1.5M

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