Fulltext

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Safka Brozkova, Dana ; Deconinck, Tine ; Beth Griffin, Laurie ; Ferbert, Andreas ; Haberlova, Jana ; Mazanec, Radim ; Lassuthova, Petra ; Roth, Christian ; Pilunthanakul, Thanita ; Rautenstrauss, Bernd ; Janecke, Andreas R. ; Zavadakova, Petra ; Chrast, Roman ; Rivolta, Carlo ; Zuchner, Stephan ; Antonellis, Anthony ; Beg, Asim A. ; De Jonghe, Peter ; Senderek, Jan ; Seeman, Pavel ; Baets, Jonathan

In: Brain, 2015, vol. 138, no. 8, p. 2161-2172

Ajouter à la liste personnelle
    Titre
    • Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
    Auteur
    • Safka Brozkova, Dana. 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 150 06, Czech Republic
    • Deconinck, Tine. 2 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium
    • Beth Griffin, Laurie. 4 Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI-48109, USA
    • Ferbert, Andreas. 6 Department of Neurology, Klinikum Kassel, Kassel 34125, Germany
    • Haberlova, Jana. 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 150 06, Czech Republic
    • Mazanec, Radim. 7 Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 150 06, Czech Republic
    • Lassuthova, Petra. 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 150 06, Czech Republic
    • Roth, Christian. 6 Department of Neurology, Klinikum Kassel, Kassel 34125, Germany
    • Pilunthanakul, Thanita. 8 Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI-48109, USA
    • Rautenstrauss, Bernd. 9 Medizinisch Genetisches Zentrum, Munich 80335, Germany
    • Janecke, Andreas R.. 11 Division of Human Genetics and Department of Pediatrics I, Medical University of Innsbruck, Innsbruck 6020, Austria
    • Zavadakova, Petra. 12 Department of Medical Genetics, University of Lausanne, Lausanne 1005, Switzerland
    • Chrast, Roman. 12 Department of Medical Genetics, University of Lausanne, Lausanne 1005, Switzerland
    • Rivolta, Carlo. 12 Department of Medical Genetics, University of Lausanne, Lausanne 1005, Switzerland
    • Zuchner, Stephan. 13 Dr John T McDonald Foundation Department of Human Genetics, John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL-33136, USA
    • Antonellis, Anthony. 4 Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI-48109, USA
    • Beg, Asim A.. 8 Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI-48109, USA
    • De Jonghe, Peter. 2 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium
    • Senderek, Jan. 10 Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich 80336, Germany
    • Seeman, Pavel. 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 150 06, Czech Republic
    • Baets, Jonathan. 2 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • Brain, 2015, vol. 138, no. 8, p. 2161-2172. Oxford University Press
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:296654
    Summary
    Using linkage analysis and whole-exome sequencing, Safka Brozkova et al. reveal missense mutations in the histidyl-tRNA synthetase gene in 23 patients from four families with axonal and demyelinating neuropathies of varying severity. The mutations cause loss of function in yeast complementation assays and neurotoxicity in a C. elegans model