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C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Lausberg, Eva; Gießelmann, Sebastian; Dewulf, Joseph P; Wiame, Elsa; Holz, Anja; Salvarinova, Ramona; van Karnebeek, Clara D; Klemm, Patricia; Ohl, Kim; Mull, Michael; Braunschweig, Till; Weis, Joachim; Sommer, Clemens J; Demuth, Stephanie; Haase, Claudia; Stollbrink-Peschgens, Claudia; Debray, François-Guillaume; Libioulle, Cecile; Choukair, Daniela; Oommen, Prasad T; Borkhardt, Arndt; Surowy, Harald; Wieczorek, Dagmar; Wagner, Norbert; Meyer, Robert; Eggermann, Thomas; Begemann, Matthias; Van Schaftingen, Emile; Häusler, Martin; Tenbrock, Klaus; van den Heuvel, Lambert; Elbracht, Miriam; Kurth, Ingo; Kraft, Florian.
Afiliação
  • Lausberg E; Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany.
  • Gießelmann S; Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany.
  • Dewulf JP; Laboratory of Physiological Chemistry, de Duve Institute and.
  • Wiame E; Department of Laboratory Medicine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
  • Holz A; Laboratory of Physiological Chemistry, de Duve Institute and.
  • Salvarinova R; CeGaT GmbH and Praxis für Humangenetik, Tübingen, Germany.
  • van Karnebeek CD; Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children's Hospital Vancouver, Vancouver, British Columbia, Canada.
  • Klemm P; British Columbia Children's Hospital Research Institute, University of British Columbia (UBC), Vancouver, British Columbia, Canada.
  • Ohl K; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, Netherlands.
  • Mull M; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, UBC, Vancouver, British Columbia, Canada.
  • Braunschweig T; Department of Pediatrics, Medical Faculty.
  • Weis J; Department of Pediatrics, Medical Faculty.
  • Sommer CJ; Department of Diagnostic and Interventional Neuroradiology, Medical Faculty.
  • Demuth S; Institute of Pathology, Medical Faculty, and.
  • Haase C; Institute of Neuropathology, Medical Faculty, RWTH University, Aachen, Germany.
  • Stollbrink-Peschgens C; Institute of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
  • Debray FG; Praxis für Humangenetik Erfurt, Erfurt, Germany.
  • Libioulle C; HELIOS Klinikum Erfurt, Ambulanz für Angeborene Stoffwechselerkrankungen, Sozialpädiatrisches Zentrum, Erfurt, Germany.
  • Choukair D; Department of Pediatrics, Medical Faculty.
  • Oommen PT; Department of Human Genetics, Centre Hospitalier Universitaire (CHU) de Liège, Liège, Belgium.
  • Borkhardt A; Department of Human Genetics, Centre Hospitalier Universitaire (CHU) de Liège, Liège, Belgium.
  • Surowy H; Department of General Pediatrics, University Children's Hospital, Heidelberg University, Heidelberg, Germany.
  • Wieczorek D; Department of Pediatric Oncology, Hematology, and Clinical Immunology, University Children's Hospital, Medical Faculty and.
  • Wagner N; Department of Pediatric Oncology, Hematology, and Clinical Immunology, University Children's Hospital, Medical Faculty and.
  • Meyer R; Institute of Human Genetics, Medical Faculty, Heinrich-Heine University (HHU), Düsseldorf, Germany.
  • Eggermann T; Institute of Human Genetics, Medical Faculty, Heinrich-Heine University (HHU), Düsseldorf, Germany.
  • Begemann M; Department of Pediatrics, Medical Faculty.
  • Van Schaftingen E; Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany.
  • Häusler M; Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany.
  • Tenbrock K; Institute of Human Genetics, Medical Faculty, Rheinisch-Westfaelische Technische Hochschule (RWTH) Aachen University, Aachen, Germany.
  • van den Heuvel L; Laboratory of Physiological Chemistry, de Duve Institute and.
  • Elbracht M; Department of Pediatrics, Medical Faculty.
  • Kurth I; Department of Pediatrics, Medical Faculty.
  • Kraft F; Department of Pediatrics, Translational Metabolic Laboratory at the Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
J Clin Invest ; 131(12)2021 06 15.
Article em En | MEDLINE | ID: mdl-33945503
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fases de Leitura Aberta / Proteínas Mitocondriais / Mutação com Perda de Função / Glicogênio / Microcefalia / Mitocôndrias Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fases de Leitura Aberta / Proteínas Mitocondriais / Mutação com Perda de Função / Glicogênio / Microcefalia / Mitocôndrias Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article