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The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?
Clemen, Christoph S; Winter, Lilli; Strucksberg, Karl-Heinz; Berwanger, Carolin; Türk, Matthias; Kornblum, Cornelia; Florin, Alexandra; Aguilar-Pimentel, Juan Antonio; Amarie, Oana Veronica; Becker, Lore; Garrett, Lillian; Hans, Wolfgang; Moreth, Kristin; Neff, Frauke; Pingen, Laura; Rathkolb, Birgit; Rácz, Ildikó; Rozman, Jan; Treise, Irina; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabe; Vorgerd, Matthias; Eichinger, Ludwig; Schröder, Rolf.
Afiliação
  • Clemen CS; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789, Bochum, Germany; Center for Biochemistry, Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931, Cologne, Germany. Electronic address: christoph.cleme
  • Winter L; Institute of Neuropathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, 91054, Erlangen, Germany; Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, 1090, Vienna, Austria.
  • Strucksberg KH; Center for Biochemistry, Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931, Cologne, Germany.
  • Berwanger C; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789, Bochum, Germany; Center for Biochemistry, Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931, Cologne, Germany.
  • Türk M; Department of Neurology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, 91054, Erlangen, Germany.
  • Kornblum C; Department of Neurology, University Hospital Bonn, 53125, Bonn, Germany; Center for Rare Diseases Bonn, University Hospital Bonn, 53127, Bonn, Germany.
  • Florin A; Institute for Pathology, University Hospital Cologne, 50937, Cologne, Germany.
  • Aguilar-Pimentel JA; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.
  • Amarie OV; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany
  • Becker L; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.
  • Garrett L; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany
  • Hans W; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.
  • Moreth K; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.
  • Neff F; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany; Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.
  • Pingen L; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.
  • Rathkolb B; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-University München, 81377, Munich, Germany; Germa
  • Rácz I; Institute of Molecular Psychiatry, Medical Faculty, University of Bonn, 53127, Bonn, Germany; Clinic of Neurodegenerative Diseases and Gerontopsychiatry, University of Bonn Medical Center, 53127, Bonn, Germany.
  • Rozman J; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany; German Center for Diabetes Research (DZD), 85764, Neuherberg, Germany.
  • Treise I; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.
  • Fuchs H; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.
  • Gailus-Durner V; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.
  • de Angelis MH; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany; German Center for Diabetes Research (DZD), 85764, Neuherberg, Germany; Chair of Experimental Genetics, School of Life Science Weihenstephan
  • Vorgerd M; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789, Bochum, Germany.
  • Eichinger L; Center for Biochemistry, Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931, Cologne, Germany.
  • Schröder R; Institute of Neuropathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, 91054, Erlangen, Germany. Electronic address: rolf.schroeder@uk-erlangen.de.
Biochem Biophys Res Commun ; 503(4): 2770-2777, 2018 09 18.
Article em En | MEDLINE | ID: mdl-30100055
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteíte Deformante / Miosite de Corpos de Inclusão / Distrofia Muscular do Cíngulo dos Membros / Demência Frontotemporal / Proteína com Valosina / Genes Letais / Esclerose Lateral Amiotrófica / Mutação Limite: Animals / Female / Humans / Male Idioma: En Revista: Biochem Biophys Res Commun Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteíte Deformante / Miosite de Corpos de Inclusão / Distrofia Muscular do Cíngulo dos Membros / Demência Frontotemporal / Proteína com Valosina / Genes Letais / Esclerose Lateral Amiotrófica / Mutação Limite: Animals / Female / Humans / Male Idioma: En Revista: Biochem Biophys Res Commun Ano de publicação: 2018 Tipo de documento: Article