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Items: 1 to 20 of 68

1.
Neuronal autosis is Na+/K+-ATPase alpha 3-dependent and involved in hypoxic-ischemic neuronal death
Pauline Depierre, Vanessa Ginet, Anita C. Truttmann, Julien Puyal
Cell Death Dis. 2024 May; 15(5): 363. Published online 2024 May 25. doi: 10.1038/s41419-024-06750-2
PMCID:
PMC11127954
AbstractArticlePDF–6.0M
2.
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
3.
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
4.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
5.
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
6.
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
7.
MBD5 and MBD6 stabilize the BAP1 complex and promote BAP1-dependent cancer
Natsumi Tsuboyama, Aileen Patricia Szczepanski, Zibo Zhao, Lu Wang
Genome Biol. 2022; 23: 206. Published online 2022 Sep 30. doi: 10.1186/s13059-022-02776-x
PMCID:
PMC9523997
AbstractArticlePDF–6.9M
8.
Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD–associated UBQLN2 mutants
Laura Strohm, Zehan Hu, Yongwon Suk, Alina Rühmkorf, Erin Sternburg, Vanessa Gattringer, Henrick Riemenschneider, Riccardo Berutti, Elisabeth Graf, Jochen H Weishaupt, Monika S Brill, Angelika B Harbauer, Dorothee Dormann, Jörn Dengjel, Dieter Edbauer, Christian Behrends
Life Sci Alliance. 2022 Nov; 5(11): e202101327. Published online 2022 Jul 1. doi: 10.26508/lsa.202101327
PMCID:
PMC9258132
AbstractArticlePDF–5.9M
9.
Identification of different proteins binding to Na, K-ATPase α1 in LPS-induced ARDS cell model by proteomic analysis
Xu-Peng Wen, Guo Long, Yue-Zhong Zhang, He Huang, Tao-Hua Liu, Qi-Quan Wan
Proteome Sci. 2022; 20: 10. Published online 2022 Jun 9. doi: 10.1186/s12953-022-00193-3
PMCID:
PMC9178877
AbstractArticlePDF–2.8M
10.
Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration
Tara E. Tracy, Jesus Madero-Pérez, Danielle L. Swaney, Timothy S. Chang, Michelle Moritz, Csaba Konrad, Michael E. Ward, Erica Stevenson, Ruth Hüttenhain, Grant Kauwe, Maria Mercedes, Lauren Sweetland-Martin, Xu Chen, Sue-Ann Mok, Man Ying Wong, Maria Telpoukhovskaia, Sang-Won Min, Chao Wang, Peter Dongmin Sohn, Jordie Martin, Yungui Zhou, Wenjie Luo, John Q. Trojanowski, Virginia M.Y. Lee, Shiaoching Gong, Giovanni Manfredi, Giovanni Coppola, Nevan J. Krogan, Daniel H. Geschwind, Li Gan
Cell. Author manuscript; available in PMC 2022 Feb 19.
Published in final edited form as: Cell. 2022 Feb 17; 185(4): 712–728.e14. Published online 2022 Jan 20. doi: 10.1016/j.cell.2021.12.041
PMCID:
PMC8857049
AbstractArticlePDF–3.6M
11.
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
12.
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
13.
Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry
Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang
Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118
PMCID:
PMC8364181
AbstractArticlePDF–3.0M
14.
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
15.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
16.
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
17.
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
18.
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
19.
Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism
Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat
Nat Metab. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z
PMCID:
PMC7566881
AbstractArticlePDF–4.8M
20.
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

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