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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy</title><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Drouet, Valerie" sort="Drouet, Valerie" uniqKey="Drouet V" first="Valérie" last="Drouet">Valérie Drouet</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name><affiliation><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Deramecourt, Vincent" sort="Deramecourt, Vincent" uniqKey="Deramecourt V" first="Vincent" last="Deramecourt">Vincent Deramecourt</name><affiliation><nlm:aff id="aff6">Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nicolas, Aude" sort="Nicolas, Aude" uniqKey="Nicolas A" first="Aude" last="Nicolas">Aude Nicolas</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Cormier Dequaire, Florence" sort="Cormier Dequaire, Florence" uniqKey="Cormier Dequaire F" first="Florence" last="Cormier-Dequaire">Florence Cormier-Dequaire</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Centre d’Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Hassoun, Sidi Mohamed" sort="Hassoun, Sidi Mohamed" uniqKey="Hassoun S" first="Sidi Mohamed" last="Hassoun">Sidi Mohamed Hassoun</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Pujol, Claire" sort="Pujol, Claire" uniqKey="Pujol C" first="Claire" last="Pujol">Claire Pujol</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Ciura, Sorana" sort="Ciura, Sorana" uniqKey="Ciura S" first="Sorana" last="Ciura">Sorana Ciura</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Erpapazoglou, Zoi" sort="Erpapazoglou, Zoi" uniqKey="Erpapazoglou Z" first="Zoi" last="Erpapazoglou">Zoi Erpapazoglou</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Usenko, Tatiana" sort="Usenko, Tatiana" uniqKey="Usenko T" first="Tatiana" last="Usenko">Tatiana Usenko</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Maurage, Claude Alain" sort="Maurage, Claude Alain" uniqKey="Maurage C" first="Claude-Alain" last="Maurage">Claude-Alain Maurage</name><affiliation><nlm:aff id="aff6">Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Sahbatou, Mourad" sort="Sahbatou, Mourad" uniqKey="Sahbatou M" first="Mourad" last="Sahbatou">Mourad Sahbatou</name><affiliation><nlm:aff id="aff8">Fondation Jean Dausset-CEPH, 75010 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Liebau, Stefan" sort="Liebau, Stefan" uniqKey="Liebau S" first="Stefan" last="Liebau">Stefan Liebau</name><affiliation><nlm:aff id="aff9">Institute of Neuroanatomy, Eberhard Karls University Tübingen, 72074 Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Ding, Jinhui" sort="Ding, Jinhui" uniqKey="Ding J" first="Jinhui" last="Ding">Jinhui Ding</name><affiliation><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Bilgic, Basar" sort="Bilgic, Basar" uniqKey="Bilgic B" first="Basar" last="Bilgic">Basar Bilgic</name><affiliation><nlm:aff id="aff10">Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Emre, Murat" sort="Emre, Murat" uniqKey="Emre M" first="Murat" last="Emre">Murat Emre</name><affiliation><nlm:aff id="aff10">Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Erginel Unaltuna, Nihan" sort="Erginel Unaltuna, Nihan" uniqKey="Erginel Unaltuna N" first="Nihan" last="Erginel-Unaltuna">Nihan Erginel-Unaltuna</name><affiliation><nlm:aff id="aff11">Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Guven, Gamze" sort="Guven, Gamze" uniqKey="Guven G" first="Gamze" last="Guven">Gamze Guven</name><affiliation><nlm:aff id="aff11">Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name><affiliation><nlm:aff id="aff12">Institut des Maladies Neurodégénératives, Université de Bordeaux et CHU de Bordeaux, 33000 Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name><affiliation><nlm:aff id="aff13">Pôle Tête-Cou-CETD, Service de Neurologie, Hôpitaux Universitaires, 67000 Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Pôle des Maladies du Système Nerveux, Fédération de Neurologie, Hôpital de la Salpêtrière, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Corvol, Jean Christophe" sort="Corvol, Jean Christophe" uniqKey="Corvol J" first="Jean-Christophe" last="Corvol">Jean-Christophe Corvol</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Centre d’Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Krack, Paul" sort="Krack, Paul" uniqKey="Krack P" first="Paul" last="Krack">Paul Krack</name><affiliation><nlm:aff id="aff15">Neurology Department, CHU de Grenoble, Joseph Fourier University, and INSERM U836, 38000 Grenoble, France</nlm:aff></affiliation></author><author><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name><affiliation><nlm:aff id="aff16">Inserm U946, 75010 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">Université Paris Diderot, Institut Universitaire d’Hématologie, UMR946, 75010 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nalls, Michael A" sort="Nalls, Michael A" uniqKey="Nalls M" first="Michael A." last="Nalls">Michael A. Nalls</name><affiliation><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G." last="Hernandez">Dena G. Hernandez</name><affiliation><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name><affiliation><nlm:aff id="aff18">Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J. Raphael" last="Gibbs">J. Raphael Gibbs</name><affiliation><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation><nlm:aff id="aff19">Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK</nlm:aff></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation><nlm:aff id="aff19">Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK</nlm:aff></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation><nlm:aff id="aff18">Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff20">Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name><affiliation><nlm:aff id="aff21">Commissariat à l’Energie Atomique, Institut Génomique, Centre National de Génotypage, 91000 Evry, France</nlm:aff></affiliation></author><author><name sortKey="Tazir, Meriem" sort="Tazir, Meriem" uniqKey="Tazir M" first="Meriem" last="Tazir">Meriem Tazir</name><affiliation><nlm:aff id="aff22">Service de Neurologie CHU Mustapha, 16000 Alger, Algérie</nlm:aff></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><affiliation><nlm:aff id="aff23">Movement Disorders Unit, Lille University, Inserm U837, Lille University Hospital, 59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><affiliation><nlm:aff id="aff10">Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Kabashi, Edor" sort="Kabashi, Edor" uniqKey="Kabashi E" first="Edor" last="Kabashi">Edor Kabashi</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Corti, Olga" sort="Corti, Olga" uniqKey="Corti O" first="Olga" last="Corti">Olga Corti</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff20">Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75013 Paris, France</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26942284</idno><idno type="pmc">4800038</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800038</idno><idno type="RBID">PMC:4800038</idno><idno type="doi">10.1016/j.ajhg.2016.01.014</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">000421</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000421</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy</title><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Drouet, Valerie" sort="Drouet, Valerie" uniqKey="Drouet V" first="Valérie" last="Drouet">Valérie Drouet</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name><affiliation><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Deramecourt, Vincent" sort="Deramecourt, Vincent" uniqKey="Deramecourt V" first="Vincent" last="Deramecourt">Vincent Deramecourt</name><affiliation><nlm:aff id="aff6">Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nicolas, Aude" sort="Nicolas, Aude" uniqKey="Nicolas A" first="Aude" last="Nicolas">Aude Nicolas</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Cormier Dequaire, Florence" sort="Cormier Dequaire, Florence" uniqKey="Cormier Dequaire F" first="Florence" last="Cormier-Dequaire">Florence Cormier-Dequaire</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Centre d’Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Hassoun, Sidi Mohamed" sort="Hassoun, Sidi Mohamed" uniqKey="Hassoun S" first="Sidi Mohamed" last="Hassoun">Sidi Mohamed Hassoun</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Pujol, Claire" sort="Pujol, Claire" uniqKey="Pujol C" first="Claire" last="Pujol">Claire Pujol</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Ciura, Sorana" sort="Ciura, Sorana" uniqKey="Ciura S" first="Sorana" last="Ciura">Sorana Ciura</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Erpapazoglou, Zoi" sort="Erpapazoglou, Zoi" uniqKey="Erpapazoglou Z" first="Zoi" last="Erpapazoglou">Zoi Erpapazoglou</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Usenko, Tatiana" sort="Usenko, Tatiana" uniqKey="Usenko T" first="Tatiana" last="Usenko">Tatiana Usenko</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Maurage, Claude Alain" sort="Maurage, Claude Alain" uniqKey="Maurage C" first="Claude-Alain" last="Maurage">Claude-Alain Maurage</name><affiliation><nlm:aff id="aff6">Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Sahbatou, Mourad" sort="Sahbatou, Mourad" uniqKey="Sahbatou M" first="Mourad" last="Sahbatou">Mourad Sahbatou</name><affiliation><nlm:aff id="aff8">Fondation Jean Dausset-CEPH, 75010 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Liebau, Stefan" sort="Liebau, Stefan" uniqKey="Liebau S" first="Stefan" last="Liebau">Stefan Liebau</name><affiliation><nlm:aff id="aff9">Institute of Neuroanatomy, Eberhard Karls University Tübingen, 72074 Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Ding, Jinhui" sort="Ding, Jinhui" uniqKey="Ding J" first="Jinhui" last="Ding">Jinhui Ding</name><affiliation><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Bilgic, Basar" sort="Bilgic, Basar" uniqKey="Bilgic B" first="Basar" last="Bilgic">Basar Bilgic</name><affiliation><nlm:aff id="aff10">Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Emre, Murat" sort="Emre, Murat" uniqKey="Emre M" first="Murat" last="Emre">Murat Emre</name><affiliation><nlm:aff id="aff10">Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Erginel Unaltuna, Nihan" sort="Erginel Unaltuna, Nihan" uniqKey="Erginel Unaltuna N" first="Nihan" last="Erginel-Unaltuna">Nihan Erginel-Unaltuna</name><affiliation><nlm:aff id="aff11">Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Guven, Gamze" sort="Guven, Gamze" uniqKey="Guven G" first="Gamze" last="Guven">Gamze Guven</name><affiliation><nlm:aff id="aff11">Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name><affiliation><nlm:aff id="aff12">Institut des Maladies Neurodégénératives, Université de Bordeaux et CHU de Bordeaux, 33000 Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name><affiliation><nlm:aff id="aff13">Pôle Tête-Cou-CETD, Service de Neurologie, Hôpitaux Universitaires, 67000 Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Pôle des Maladies du Système Nerveux, Fédération de Neurologie, Hôpital de la Salpêtrière, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Corvol, Jean Christophe" sort="Corvol, Jean Christophe" uniqKey="Corvol J" first="Jean-Christophe" last="Corvol">Jean-Christophe Corvol</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Centre d’Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Krack, Paul" sort="Krack, Paul" uniqKey="Krack P" first="Paul" last="Krack">Paul Krack</name><affiliation><nlm:aff id="aff15">Neurology Department, CHU de Grenoble, Joseph Fourier University, and INSERM U836, 38000 Grenoble, France</nlm:aff></affiliation></author><author><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name><affiliation><nlm:aff id="aff16">Inserm U946, 75010 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">Université Paris Diderot, Institut Universitaire d’Hématologie, UMR946, 75010 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nalls, Michael A" sort="Nalls, Michael A" uniqKey="Nalls M" first="Michael A." last="Nalls">Michael A. Nalls</name><affiliation><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G." last="Hernandez">Dena G. Hernandez</name><affiliation><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name><affiliation><nlm:aff id="aff18">Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J. Raphael" last="Gibbs">J. Raphael Gibbs</name><affiliation><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation><nlm:aff id="aff19">Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK</nlm:aff></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation><nlm:aff id="aff19">Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK</nlm:aff></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation><nlm:aff id="aff18">Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff20">Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name><affiliation><nlm:aff id="aff21">Commissariat à l’Energie Atomique, Institut Génomique, Centre National de Génotypage, 91000 Evry, France</nlm:aff></affiliation></author><author><name sortKey="Tazir, Meriem" sort="Tazir, Meriem" uniqKey="Tazir M" first="Meriem" last="Tazir">Meriem Tazir</name><affiliation><nlm:aff id="aff22">Service de Neurologie CHU Mustapha, 16000 Alger, Algérie</nlm:aff></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><affiliation><nlm:aff id="aff23">Movement Disorders Unit, Lille University, Inserm U837, Lille University Hospital, 59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><affiliation><nlm:aff id="aff10">Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Kabashi, Edor" sort="Kabashi, Edor" uniqKey="Kabashi E" first="Edor" last="Kabashi">Edor Kabashi</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Corti, Olga" sort="Corti, Olga" uniqKey="Corti O" first="Olga" last="Corti">Olga Corti</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff20">Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75013 Paris, France</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in <italic>vacuolar protein sorting 13C</italic> (<italic>VPS13C</italic>). <italic>VPS13C</italic> mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of <italic>VPS13C</italic> was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of <italic>PARK2</italic> in response to mitochondrial damage. This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26942284</article-id><article-id pub-id-type="pmc">4800038</article-id><article-id pub-id-type="publisher-id">S0002-9297(16)00048-3</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2016.01.014</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Lesage</surname><given-names>Suzanne</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref><xref rid="fn1" ref-type="fn">25</xref></contrib><contrib contrib-type="author"><name><surname>Drouet</surname><given-names>Valérie</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref><xref rid="fn1" ref-type="fn">25</xref></contrib><contrib contrib-type="author"><name><surname>Majounie</surname><given-names>Elisa</given-names></name><xref rid="aff5" ref-type="aff">5</xref><xref rid="fn1" ref-type="fn">25</xref></contrib><contrib contrib-type="author"><name><surname>Deramecourt</surname><given-names>Vincent</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Jacoupy</surname><given-names>Maxime</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Nicolas</surname><given-names>Aude</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Cormier-Dequaire</surname><given-names>Florence</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Hassoun</surname><given-names>Sidi Mohamed</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Pujol</surname><given-names>Claire</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Ciura</surname><given-names>Sorana</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Erpapazoglou</surname><given-names>Zoi</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Usenko</surname><given-names>Tatiana</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Maurage</surname><given-names>Claude-Alain</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Sahbatou</surname><given-names>Mourad</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Liebau</surname><given-names>Stefan</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Ding</surname><given-names>Jinhui</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Bilgic</surname><given-names>Basar</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Emre</surname><given-names>Murat</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Erginel-Unaltuna</surname><given-names>Nihan</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Guven</surname><given-names>Gamze</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Tison</surname><given-names>François</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Tranchant</surname><given-names>Christine</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Vidailhet</surname><given-names>Marie</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib 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contrib-type="author"><name><surname>Williams</surname><given-names>Nigel</given-names></name></contrib><contrib contrib-type="author"><name><surname>Morris</surname><given-names>Huw R.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Heutink</surname><given-names>Peter</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hardy</surname><given-names>John</given-names></name></contrib><contrib contrib-type="author"><name><surname>Wood</surname><given-names>Nicholas W.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Gasser</surname><given-names>Thomas</given-names></name></contrib><contrib contrib-type="author"><name><surname>Singleton</surname><given-names>Andrew B.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Brice</surname><given-names>Alexis</given-names></name></contrib></contrib-group></collab></contrib></contrib-group><aff id="aff1"><label>1</label>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</aff><aff id="aff2"><label>2</label>Inserm U 1127, 75013 Paris, France</aff><aff id="aff3"><label>3</label>CNRS UMR 7225, 75013 Paris, France</aff><aff id="aff4"><label>4</label>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</aff><aff id="aff5"><label>5</label>Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</aff><aff id="aff6"><label>6</label>Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille, France</aff><aff id="aff7"><label>7</label>Centre d’Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris, France</aff><aff id="aff8"><label>8</label>Fondation Jean Dausset-CEPH, 75010 Paris, France</aff><aff id="aff9"><label>9</label>Institute of Neuroanatomy, Eberhard Karls University Tübingen, 72074 Tübingen, Germany</aff><aff id="aff10"><label>10</label>Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey</aff><aff id="aff11"><label>11</label>Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey</aff><aff id="aff12"><label>12</label>Institut des Maladies Neurodégénératives, Université de Bordeaux et CHU de Bordeaux, 33000 Bordeaux, France</aff><aff id="aff13"><label>13</label>Pôle Tête-Cou-CETD, Service de Neurologie, Hôpitaux Universitaires, 67000 Strasbourg, France</aff><aff id="aff14"><label>14</label>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, Hôpital de la Salpêtrière, 75013 Paris, France</aff><aff id="aff15"><label>15</label>Neurology Department, CHU de Grenoble, Joseph Fourier University, and INSERM U836, 38000 Grenoble, France</aff><aff id="aff16"><label>16</label>Inserm U946, 75010 Paris, France</aff><aff id="aff17"><label>17</label>Université Paris Diderot, Institut Universitaire d’Hématologie, UMR946, 75010 Paris, France</aff><aff id="aff18"><label>18</label>Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen, Germany</aff><aff id="aff19"><label>19</label>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK</aff><aff id="aff20"><label>20</label>Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75013 Paris, France</aff><aff id="aff21"><label>21</label>Commissariat à l’Energie Atomique, Institut Génomique, Centre National de Génotypage, 91000 Evry, France</aff><aff id="aff22"><label>22</label>Service de Neurologie CHU Mustapha, 16000 Alger, Algérie</aff><aff id="aff23"><label>23</label>Movement Disorders Unit, Lille University, Inserm U837, Lille University Hospital, 59000 Lille, France</aff><aff id="aff24"><label>24</label>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>olga.corti@upmc.fr</email></corresp><corresp id="cor2"><label>∗∗</label>Corresponding author <email>alexis.brice@upmc.fr</email></corresp><fn id="fn1"><label>25</label><p id="ntpara0010">These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>03</day><month>3</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>03</day><month>3</month><year>2016</year></pub-date><volume>98</volume><issue>3</issue><fpage>500</fpage><lpage>513</lpage><history><date date-type="received"><day>16</day><month>11</month><year>2015</year></date><date date-type="accepted"><day>20</day><month>1</month><year>2016</year></date></history><permissions><copyright-statement>©2016 by The American Society of Human Genetics. All rights reserved.</copyright-statement><copyright-year>2016</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in <italic>vacuolar protein sorting 13C</italic> (<italic>VPS13C</italic>). <italic>VPS13C</italic> mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of <italic>VPS13C</italic> was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of <italic>PARK2</italic> in response to mitochondrial damage. This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression.</p></abstract></article-meta><notes><p id="misc0010">Published: February 25, 2016</p></notes></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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