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A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation.
Gamage, Thilini H; Grabmayr, Herwig; Horvath, Ferdinand; Fahrner, Marc; Misceo, Doriana; Louch, William Edward; Gunnes, Gjermund; Pullisaar, Helen; Reseland, Janne Elin; Lyngstadaas, Staale Petter; Holmgren, Asbjørn; Amundsen, Silja S; Rathner, Petr; Cerofolini, Linda; Ravera, Enrico; Krobath, Heinrich; Luchinat, Claudio; Renger, Thomas; Müller, Norbert; Romanin, Christoph; Frengen, Eirik.
Afiliação
  • Gamage TH; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.
  • Grabmayr H; Institute of Biophysics, Johannes Kepler University Linz, Gruberstrasse 40, 4020 Linz, Austria.
  • Horvath F; Institute of Theoretical Physics, Johannes Kepler University Linz, Altenbergerstrasse 69, 4040 Linz, Austria.
  • Fahrner M; Institute of Biophysics, Johannes Kepler University Linz, Gruberstrasse 40, 4020 Linz, Austria.
  • Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.
  • Louch WE; Institute for Experimental Medical Research, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.
  • Gunnes G; Faculty of Veterinary Medicine, Norwegian University of Life Sciences, 1430 Ås, Norway.
  • Pullisaar H; Department of Biomaterials, Institute of Clinical Dentistry, University of Oslo, 0455 Oslo, Norway.
  • Reseland JE; Department of Biomaterials, Institute of Clinical Dentistry, University of Oslo, 0455 Oslo, Norway.
  • Lyngstadaas SP; Department of Biomaterials, Institute of Clinical Dentistry, University of Oslo, 0455 Oslo, Norway.
  • Holmgren A; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.
  • Amundsen SS; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.
  • Rathner P; Institute of Organic Chemistry and Institute of Inorganic Chemistry, Johannes Kepler University Linz, Altenbergerstrasse 69, 4040 Linz, Austria.
  • Cerofolini L; Institut für Analytische Chemie, University of Vienna, Währinger Straße 38, 1090 Wien, Austria.
  • Ravera E; Magnetic Resonance Center, University of Florence and Consorzio Interuniversitario Risonanze Magnetiche di Metalloproteine, 50019 Sesto Fiorentino, Italy.
  • Krobath H; Magnetic Resonance Center, University of Florence and Consorzio Interuniversitario Risonanze Magnetiche di Metalloproteine, 50019 Sesto Fiorentino, Italy.
  • Luchinat C; Department of Chemistry, Ugo Schiff, University of Florence, 50019 Sesto Fiorentino, Italy.
  • Renger T; Institute of Theoretical Physics, Johannes Kepler University Linz, Altenbergerstrasse 69, 4040 Linz, Austria.
  • Müller N; Department of Chemistry, Ugo Schiff, University of Florence, 50019 Sesto Fiorentino, Italy.
  • Romanin C; CERM, University of Florence, 50019 Sesto Fiorentino, Italy.
  • Frengen E; Institute of Theoretical Physics, Johannes Kepler University Linz, Altenbergerstrasse 69, 4040 Linz, Austria.
Sci Signal ; 16(771): eadd0509, 2023 02 07.
Article em En | MEDLINE | ID: mdl-36749824
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Cálcio Ativados pela Liberação de Cálcio / Proteínas de Membrana Limite: Animals Idioma: En Revista: Sci Signal Assunto da revista: CIENCIA / FISIOLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Noruega
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Cálcio Ativados pela Liberação de Cálcio / Proteínas de Membrana Limite: Animals Idioma: En Revista: Sci Signal Assunto da revista: CIENCIA / FISIOLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Noruega