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Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice.
Herrmann, Harald; Cabet, Eva; Chevalier, Nicolas R; Moosmann, Julia; Schultheis, Dorothea; Haas, Jan; Schowalter, Mirjam; Berwanger, Carolin; Weyerer, Veronika; Agaimy, Abbas; Meder, Benjamin; Müller, Oliver J; Katus, Hugo A; Schlötzer-Schrehardt, Ursula; Vicart, Patrick; Ferreiro, Ana; Dittrich, Sven; Clemen, Christoph S; Lilienbaum, Alain; Schröder, Rolf.
Afiliação
  • Herrmann H; Institute of Neuropathology (H.H., D.S., M.S., R.S.), University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Germany.
  • Cabet E; Molecular Genetics, German Cancer Research Center, Heidelberg, Germany (H.H.).
  • Chevalier NR; Basic and Translational Myology, Unit of Functional and Adaptive Biology (E.C., P.V., A.F., A.L.), University of Paris, France.
  • Moosmann J; Laboratoire Matière et Systèmes Complexes (N.R.C.), University of Paris, France.
  • Schultheis D; Department of Pediatric Cardiology (J.M., S.D.), University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Germany.
  • Haas J; Institute of Neuropathology (H.H., D.S., M.S., R.S.), University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Germany.
  • Schowalter M; Institute for Cardiomyopathies Heidelberg, Heart Center Heidelberg, University of Heidelberg, Germany (J.H., B.M.).
  • Berwanger C; Institute of Neuropathology (H.H., D.S., M.S., R.S.), University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Germany.
  • Weyerer V; Institute of Aerospace Medicine, German Aerospace Center, Cologne, Germany (C.B., C.S.C.).
  • Agaimy A; Institute of Pathology (V.W., A.A.), University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Germany.
  • Meder B; Institute of Pathology (V.W., A.A.), University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Germany.
  • Müller OJ; Institute for Cardiomyopathies Heidelberg, Heart Center Heidelberg, University of Heidelberg, Germany (J.H., B.M.).
  • Katus HA; Department of Genetics, Stanford University School of Medicine, CA (B.M.).
  • Schlötzer-Schrehardt U; Internal Medicine III, University Hospital Schleswig-Holstein and University of Kiel, and German Center for Cardiovascular Research, partner site Hamburg/Kiel/Lübeck, Kiel, Germany (O.J.M.).
  • Vicart P; Department of Cardiology, Medical University Hospital Heidelberg, and German Center for Cardiovascular Research, partner site Heidelberg/Mannheim, Heidelberg, Germany (H.A.K.).
  • Ferreiro A; Department of Ophthalmology (U.S.-S.), University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Germany.
  • Dittrich S; Basic and Translational Myology, Unit of Functional and Adaptive Biology (E.C., P.V., A.F., A.L.), University of Paris, France.
  • Clemen CS; Basic and Translational Myology, Unit of Functional and Adaptive Biology (E.C., P.V., A.F., A.L.), University of Paris, France.
  • Lilienbaum A; Reference Center for Neuromuscular Disorders, Pitié-Salpêtrière Hospital, Assistance publique-Hôpitaux de Paris, France (A.F.).
  • Schröder R; Department of Pediatric Cardiology (J.M., S.D.), University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Germany.
Circulation ; 142(22): 2155-2171, 2020 12.
Article em En | MEDLINE | ID: mdl-33023321

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Índice de Gravidade de Doença / Desmina / Cardiomiopatias / Miocárdio Limite: Adolescent / Animals / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Índice de Gravidade de Doença / Desmina / Cardiomiopatias / Miocárdio Limite: Adolescent / Animals / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article