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Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.
Arystarkhova, Elena; Toustrup-Jensen, Mads S; Holm, Rikke; Ko, Jae-Kyun; Lee, Kyung Eun; Feschenko, Polina; Ozelius, Laurie J; Brashear, Allison; Vilsen, Bente; Sweadner, Kathleen J.
Afiliación
  • 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.
J Biol Chem ; 299(1): 102758, 2023 01.
Article en En | MEDLINE | ID: mdl-36462665
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / ATPasa Intercambiadora de Sodio-Potasio Límite: Animals / Humans Idioma: En Revista: J Biol Chem Año: 2023 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / ATPasa Intercambiadora de Sodio-Potasio Límite: Animals / Humans Idioma: En Revista: J Biol Chem Año: 2023 Tipo del documento: Article