Your browser doesn't support javascript.
loading
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Lesage, Suzanne; Drouet, Valérie; Majounie, Elisa; Deramecourt, Vincent; Jacoupy, Maxime; Nicolas, Aude; Cormier-Dequaire, Florence; Hassoun, Sidi Mohamed; Pujol, Claire; Ciura, Sorana; Erpapazoglou, Zoi; Usenko, Tatiana; Maurage, Claude-Alain; Sahbatou, Mourad; Liebau, Stefan; Ding, Jinhui; Bilgic, Basar; Emre, Murat; Erginel-Unaltuna, Nihan; Guven, Gamze; Tison, François; Tranchant, Christine; Vidailhet, Marie; Corvol, Jean-Christophe; Krack, Paul; Leutenegger, Anne-Louise; Nalls, Michael A; Hernandez, Dena G; Heutink, Peter; Gibbs, J Raphael; Hardy, John; Wood, Nicholas W; Gasser, Thomas; Durr, Alexandra; Deleuze, Jean-François; Tazir, Meriem; Destée, Alain; Lohmann, Ebba; Kabashi, Edor; Singleton, Andrew; Corti, Olga; Brice, Alexis.
Afiliação
  • Lesage S; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France.
  • Drouet V; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France.
  • Majounie E; Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
  • Deramecourt V; Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille, France.
  • Jacoupy M; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France.
  • Nicolas A; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France.
  • Cormier-Dequaire F; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France; Centre d'Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris, Fr
  • Hassoun SM; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France.
  • Pujol C; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France.
  • Ciura S; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France.
  • Erpapazoglou Z; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France.
  • Usenko T; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France.
  • Maurage CA; Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille, France.
  • Sahbatou M; Fondation Jean Dausset-CEPH, 75010 Paris, France.
  • Liebau S; Institute of Neuroanatomy, Eberhard Karls University Tübingen, 72074 Tübingen, Germany.
  • Ding J; Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
  • Bilgic B; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey.
  • Emre M; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey.
  • Erginel-Unaltuna N; Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey.
  • Guven G; Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey.
  • Tison F; Institut des Maladies Neurodégénératives, Université de Bordeaux et CHU de Bordeaux, 33000 Bordeaux, France.
  • Tranchant C; Pôle Tête-Cou-CETD, Service de Neurologie, Hôpitaux Universitaires, 67000 Strasbourg, France.
  • Vidailhet M; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France; Pôle des Maladies du Système Nerveux, Fédération de Neurologie, Hôpital de la
  • Corvol JC; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France; Centre d'Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris, Fr
  • Krack P; Neurology Department, CHU de Grenoble, Joseph Fourier University, and INSERM U836, 38000 Grenoble, France.
  • Leutenegger AL; Inserm U946, 75010 Paris, France; Université Paris Diderot, Institut Universitaire d'Hématologie, UMR946, 75010 Paris, France.
  • Nalls MA; Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
  • Hernandez DG; Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
  • Heutink P; Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen, Germany.
  • Gibbs JR; Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
  • Hardy J; Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK.
  • Wood NW; Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK.
  • Gasser T; Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen, Germany.
  • Durr A; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France; Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75
  • Deleuze JF; Commissariat à l'Energie Atomique, Institut Génomique, Centre National de Génotypage, 91000 Evry, France.
  • Tazir M; Service de Neurologie CHU Mustapha, 16000 Alger, Algérie.
  • Destée A; Movement Disorders Unit, Lille University, Inserm U837, Lille University Hospital, 59000 Lille, France.
  • Lohmann E; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodege
  • Kabashi E; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France.
  • Singleton A; Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
  • Corti O; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France. Electronic address: olga.corti@upmc.fr.
  • Brice A; Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France; Inserm U 1127, 75013 Paris, France; CNRS UMR 7225, 75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France; Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75
Am J Hum Genet ; 98(3): 500-513, 2016 Mar 03.
Article em En | MEDLINE | ID: mdl-26942284
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Quinases / Proteínas / Transtornos Parkinsonianos / Ubiquitina-Proteína Ligases / Mitofagia Tipo de estudo: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Animals / Female / Humans / Male / Middle aged País como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Quinases / Proteínas / Transtornos Parkinsonianos / Ubiquitina-Proteína Ligases / Mitofagia Tipo de estudo: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Animals / Female / Humans / Male / Middle aged País como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article