Zobrazeno 1 - 10 of 1 678 pro vyhledávání: '"Sweadner, Kj"'
1
Akademický článek
Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: Atp1a 3 tm1Ling/+ and Atp1a3 +/D801Y .
Autor: Liu YB; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts 02114., Arystarkhova E; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts 02114.; Harvard Medical School, Boston, Massachusetts 02115., Sacino AN; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts 02114., Szabari MV; Department Anesthesia, Massachusetts General Hospital, Boston, Massachusetts 02114., Lutz CM; The Jackson Laboratory, Bar Harbor, Maine 04609., Terrey M; The Jackson Laboratory, Bar Harbor, Maine 04609., Morsci NS, Jakobs TC; Harvard Medical School, Boston, Massachusetts 02115.; Department of Ophthalmology, Massachusetts Eye and Ear Infirmary/Schepens Eye Research Institute, Harvard Medical School, Boston, Massachusetts 02114., Lykke-Hartmann K; Department of Biomedicine, Aarhus University, Aarhus 8000, Denmark., Brashear A; Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York 14203., Napoli E; Department of Neurology, University of California Davis School of Medicine, Sacramento, California 95817., Sweadner KJ; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts 02114 ksweadner@mgh.harvard.edu.; Harvard Medical School, Boston, Massachusetts 02115.
Publikováno v: ENeuro [eNeuro] 2024 Aug 28; Vol. 11 (8). Date of Electronic Publication: 2024 Aug 28 (Print Publication: 2024).
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2
Akademický článek
Na,K-ATPase Expression Can Be Limited Post-Transcriptionally: A Test of the Role of the Beta Subunit, and a Review of Evidence.
Autor: Arystarkhova E; Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129, USA., Sweadner KJ; Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129, USA.
Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 06; Vol. 25 (13). Date of Electronic Publication: 2024 Jul 06.
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3
Akademický článek
Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes.
Autor: Whitlow CT; Section of Neuroradiology, Department of Radiology, Wake Forest University School of Medicine, Winston-Salem, NC, United States.; Department of Biomedical Engineering, Wake Forest University School of Medicine, Winston-Salem, NC, United States.; Clinical and Translational Science Institute, Wake Forest University School of Medicine, Winston-Salem, NC, United States.; Department of Biostatistics and Data Science, Wake Forest University School of Medicine, Winston-Salem, NC, United States., Atcheson KM; Section of Neuroradiology, Department of Radiology, Wake Forest University School of Medicine, Winston-Salem, NC, United States., Snively BM; Clinical and Translational Science Institute, Wake Forest University School of Medicine, Winston-Salem, NC, United States.; Department of Biostatistics and Data Science, Wake Forest University School of Medicine, Winston-Salem, NC, United States., Cook JF; Department of Psychiatry and Behavioral Medicine, Wake Forest University School of Medicine, Winston-Salem, NC, United States., Kim J; Section of Neuroradiology, Department of Radiology, Wake Forest University School of Medicine, Winston-Salem, NC, United States., Haq IU; Department of Neurology, University of Miami, Miami, FL, United States., Sweadner KJ; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, United States., Ozelius LJ; Department of Neurology, Massachusetts General Hospital, Boston, MA, United States., Brashear A; Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, United States.
Publikováno v: Frontiers in neurology [Front Neurol] 2023 Jan 26; Vol. 14, pp. 1116723. Date of Electronic Publication: 2023 Jan 26 (Print Publication: 2023).
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4
Akademický článek
Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.
Autor: Arystarkhova E; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA. Electronic address: aristarkhova@helix.mgh.harvard.edu., Toustrup-Jensen MS; Department of Biomedicine, Aarhus University, Aarhus C, Denmark., Holm R; Department of Biomedicine, Aarhus University, Aarhus C, Denmark., Ko JK; Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA., Lee KE; Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA., Feschenko P; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA., Ozelius LJ; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Brashear A; Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, Buffalo, New York, USA., Vilsen B; Department of Biomedicine, Aarhus University, Aarhus C, Denmark., Sweadner KJ; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA. Electronic address: sweadner@helix.mgh.harvard.edu.
Publikováno v: The Journal of biological chemistry [J Biol Chem] 2023 Jan; Vol. 299 (1), pp. 102758. Date of Electronic Publication: 2022 Dec 01.
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5
Akademický článek
Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations.
Autor: Hoshino K; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Sweadner KJ; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Kawarai T; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Saute JA; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Freitas J; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Damásio J; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Donis KC; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Kimura K; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Fukuda H; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Hayashi M; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Higuchi T; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Ikeda Y; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Ozelius LJ; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Kaji R; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown.
Publikováno v: Neurology. Genetics [Neurol Genet] 2021 Mar 15; Vol. 7 (2), pp. e562. Date of Electronic Publication: 2021 Mar 15 (Print Publication: 2021).
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6
Akademický článek
PAR1-mediated Non-periodical Synchronized Calcium Oscillations in Human Mesangial Cells.
Autor: Stefanenko, Mariia1,2 (AUTHOR), Fedoriuk, Mykhailo1 (AUTHOR), Mamenko, Mykola3 (AUTHOR), Semenikhina, Marharyta1 (AUTHOR), Nowling, Tamara K4 (AUTHOR), Lipschutz, Joshua H1,5 (AUTHOR), Maximyuk, Oleksandr2 (AUTHOR), Staruschenko, Alexander6,7 (AUTHOR), Palygin, Oleg1,8 (AUTHOR) palygin@musc.edu
Publikováno v: Function. 2024, Vol. 5 Issue 5, p1-12. 12p.
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7
Akademický článek
Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations.
Autor: Arystarkhova E; Laboratory of Membrane Biology, Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA. Electronic address: aristarkhova@helix.mgh.harvard.edu., Ozelius LJ; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Brashear A; Department of Medicine, University of California at Davis Medical School, Sacramento, California, USA., Sweadner KJ; Laboratory of Membrane Biology, Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA. Electronic address: sweadner@helix.mgh.harvard.edu.
Publikováno v: The Journal of biological chemistry [J Biol Chem] 2021 Jan-Jun; Vol. 296, pp. 100019. Date of Electronic Publication: 2020 Nov 22.
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8
Akademický článek
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Autor: Arystarkhova E; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA. Electronic address: aristarkhova@helix.mgh.harvard.edu., Haq IU; Department of Neurology, Wake Forest School of Medicine, Winston-Salem, NC, USA., Luebbert T; Section of Neurology, Department of Pediatrics, University of Colorado, Denver, CO, USA., Mochel F; AP-HP, La Pitié-Salpêtrière University Hospital, Department of Genetics and Reference Center for Adult Neurometabolic Diseases, INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France., Saunders-Pullman R; Icahn School of Medicine at Mount Sinai, NY, New York, USA., Bressman SB; Icahn School of Medicine at Mount Sinai, NY, New York, USA., Feschenko P; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA., Salazar C; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA., Cook JF; Department of Neurology, Wake Forest School of Medicine, Winston-Salem, NC, USA., Demarest S; Section of Neurology, Department of Pediatrics, University of Colorado, Denver, CO, USA., Brashear A; Department of Neurology, Wake Forest School of Medicine, Winston-Salem, NC, USA., Ozelius LJ; Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA., Sweadner KJ; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA. Electronic address: sweadner@helix.mgh.harvard.edu.
Publikováno v: Neurobiology of disease [Neurobiol Dis] 2019 Dec; Vol. 132, pp. 104577. Date of Electronic Publication: 2019 Aug 16.
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9
Akademický článek
Inhibition of GSK3α,β rescues cognitive phenotypes in a preclinical mouse model of CTNNB1 syndrome.
Autor: Alexander JM; Tufts University School of Biomedical Sciences, Department of Neuroscience, Boston, MA, 02111, USA., Vazquez-Ramirez L; Tufts University School of Biomedical Sciences, Department of Neuroscience, Boston, MA, 02111, USA., Lin C; Tufts University School of Biomedical Sciences, Department of Neuroscience, Boston, MA, 02111, USA., Antonoudiou P; Tufts University School of Biomedical Sciences, Department of Neuroscience, Boston, MA, 02111, USA., Maguire J; Tufts University School of Biomedical Sciences, Department of Neuroscience, Boston, MA, 02111, USA., Wagner F; The Broad Institute of MIT and Harvard, Center for the Development of Therapeutics, Cambridge, MA, 02142, USA.; Photys Therapeutics, Waltham, MA, USA., Jacob MH; Tufts University School of Biomedical Sciences, Department of Neuroscience, Boston, MA, 02111, USA. Michele.Jacob@Tufts.edu.
Publikováno v: EMBO molecular medicine [EMBO Mol Med] 2024 Sep; Vol. 16 (9), pp. 2109-2131. Date of Electronic Publication: 2024 Aug 05.
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10
Distinct neurological disorders with ATP1A3 mutations
Autor: 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, Ashcroft, Fm, Salem, W, Brockmann, K, Campistol, J, Capuano, A, Carrilho, I, Casaer, P, DE GRANDIS, Elisa, de Vries, B, Di Michele, M, Dion, C, Doummar, D, Einholm, Ap, Fons, C, Franchini, F, Friedrich, T, Freson, K, Gadsby, Dc, Giannotta, M, Goubau, C, Granata, T, Hirose, S, Hitomi, Y, Holm, R, Ikeda, K, Ishii, A, Khodakhah, K, King, Md, Kirshenbaum, Gs, Kockhans, A, Koenderink, Jb, Lesca, G, Lykke Hartmann, K, Maschke, U, Merida, Mr, Müller, R, Neri, G, Nielsen, Hn, Nissen, P, O'Brien, T, Panagiotakaki, E, Parowicz, M, Poncelin, D, Reyna, Sp, Roder, Jc, Rosewich, H, Sasaki, M, Schack, Vr, Schyns, P, Stagnaro, M, Swoboda, Kj, Tiziano, Df, Toustrup Jensen MS, Vilamala, A, Wuchich, J. T.
Publikováno v: Heinzen, E L, Arzimanoglou, A, Brashear, A, Clapcote, S J, Gurrieri, F, Goldstein, D B, Jóhannesson, S H, Mikati, M A, Neville, B, Nicole, S, Ozelius, L J, Poulsen, H, Schyns, T, Sweadner, K J, van den Maagdenberg, A, Vilsen, B & for the ATP1A3 Working Group: 2014, ' Distinct neurological disorders with ATP1A3 mutations ', Lancet Neurology, vol. 13, no. 5, pp. 503-514 . https://doi.org/10.1016/S1474-4422(14)70011-0
The Lancet Neurology, Vol. 13, no. 5, p. 503-514 (2014)
Lancet Neurology, 13, 5, pp. 503-14
Lancet Neurology, 13, 503-14
Item does not contain fulltext Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the alpha3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemipl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e943b4c47204e135054138a32d35896e
https://pure.au.dk/portal/da/publications/distinct-neurological-disorders-with-atp1a3-mutations(3b72ceba-33bb-4c87-9433-3698cb1a535a).html
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Plný text Recenzováno Digitální knihovna AV ČR
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