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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>
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<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 contrib-type="author"><name><surname>Corvol</surname>
<given-names>Jean-Christophe</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>Krack</surname>
<given-names>Paul</given-names>
</name>
<xref rid="aff15" ref-type="aff">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Leutenegger</surname>
<given-names>Anne-Louise</given-names>
</name>
<xref rid="aff16" ref-type="aff">16</xref>
<xref rid="aff17" ref-type="aff">17</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nalls</surname>
<given-names>Michael A.</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hernandez</surname>
<given-names>Dena G.</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Heutink</surname>
<given-names>Peter</given-names>
</name>
<xref rid="aff18" ref-type="aff">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gibbs</surname>
<given-names>J. Raphael</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hardy</surname>
<given-names>John</given-names>
</name>
<xref rid="aff19" ref-type="aff">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wood</surname>
<given-names>Nicholas W.</given-names>
</name>
<xref rid="aff19" ref-type="aff">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gasser</surname>
<given-names>Thomas</given-names>
</name>
<xref rid="aff18" ref-type="aff">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Durr</surname>
<given-names>Alexandra</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="aff20" ref-type="aff">20</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Deleuze</surname>
<given-names>Jean-François</given-names>
</name>
<xref rid="aff21" ref-type="aff">21</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tazir</surname>
<given-names>Meriem</given-names>
</name>
<xref rid="aff22" ref-type="aff">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Destée</surname>
<given-names>Alain</given-names>
</name>
<xref rid="aff23" ref-type="aff">23</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lohmann</surname>
<given-names>Ebba</given-names>
</name>
<xref rid="aff10" ref-type="aff">10</xref>
<xref rid="aff24" ref-type="aff">24</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kabashi</surname>
<given-names>Edor</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>Singleton</surname>
<given-names>Andrew</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Corti</surname>
<given-names>Olga</given-names>
</name>
<email>olga.corti@upmc.fr</email>
<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="cor1" ref-type="corresp">∗</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brice</surname>
<given-names>Alexis</given-names>
</name>
<email>alexis.brice@upmc.fr</email>
<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="aff20" ref-type="aff">20</xref>
<xref rid="cor2" ref-type="corresp">∗∗</xref>
</contrib>
<contrib contrib-type="author"><collab>French Parkinson's Disease Genetics Study (PDG)</collab>
</contrib>
<contrib contrib-type="author"><collab>the International Parkinson's Disease Genomics Consortium (IPDGC)<contrib-group><contrib contrib-type="author"><name><surname>Lesage</surname>
<given-names>Suzanne</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Tison</surname>
<given-names>François</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Vidailhet</surname>
<given-names>Marie</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Corvol</surname>
<given-names>Jean-Christophe</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Agid</surname>
<given-names>Yves</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Anheim</surname>
<given-names>Mathieu</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Bonnet</surname>
<given-names>Anne-Marie</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Borg</surname>
<given-names>Michel</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Broussolle</surname>
<given-names>Emmanuel</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Damier</surname>
<given-names>Philippe</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Destée</surname>
<given-names>Alain</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Dürr</surname>
<given-names>Alexandra</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Durif</surname>
<given-names>Franck</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Krack</surname>
<given-names>Paul</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Klebe</surname>
<given-names>Stephan</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Lohmann</surname>
<given-names>Ebba</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Martinez</surname>
<given-names>Maria</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Pollak</surname>
<given-names>Pierre</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Rascol</surname>
<given-names>Olivier</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Tranchant</surname>
<given-names>Christine</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Vérin</surname>
<given-names>Marc</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Viallet</surname>
<given-names>François</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Brice</surname>
<given-names>Alexis</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Lesage</surname>
<given-names>Suzanne</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Majounie</surname>
<given-names>Elisa</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Tison</surname>
<given-names>François</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Vidailhet</surname>
<given-names>Marie</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Corvol</surname>
<given-names>Jean Christophe</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Nalls</surname>
<given-names>Michael A.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Hernandez</surname>
<given-names>Dena G.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Gibbs</surname>
<given-names>J. Raphael</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Dürr</surname>
<given-names>Alexandra</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Arepalli</surname>
<given-names>Sampath</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Barker</surname>
<given-names>Roger A.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Ben-Shlomo</surname>
<given-names>Yoav</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Berg</surname>
<given-names>Daniela</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Bettella</surname>
<given-names>Francesco</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Bhatia</surname>
<given-names>Kailash</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>de Bie</surname>
<given-names>Rob M.A.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Biffi</surname>
<given-names>Alessandro</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Bloem</surname>
<given-names>Bastiaan R.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Bochdanovits</surname>
<given-names>Zoltan</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Bonin</surname>
<given-names>Michael</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Lesage</surname>
<given-names>Suzanne</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Tison</surname>
<given-names>François</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Vidailhet</surname>
<given-names>Marie</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Corvol</surname>
<given-names>Jean-Christophe</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Agid</surname>
<given-names>Yves</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Anheim</surname>
<given-names>Mathieu</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Bonnet</surname>
<given-names>Anne-Marie</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Borg</surname>
<given-names>Michel</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Broussolle</surname>
<given-names>Emmanuel</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Damier</surname>
<given-names>Philippe</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Destée</surname>
<given-names>Alain</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Dürr</surname>
<given-names>Alexandra</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Durif</surname>
<given-names>Franck</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Krack</surname>
<given-names>Paul</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Klebe</surname>
<given-names>Stephan</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Lohmann</surname>
<given-names>Ebba</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Martinez</surname>
<given-names>Maria</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Pollak</surname>
<given-names>Pierre</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Rascol</surname>
<given-names>Olivier</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Tranchant</surname>
<given-names>Christine</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Vérin</surname>
<given-names>Marc</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Bras</surname>
<given-names>Jose M.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Brockmann</surname>
<given-names>Kathrin</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Brooks</surname>
<given-names>Janet</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Burn</surname>
<given-names>David J.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Charlesworth</surname>
<given-names>Gavin</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Chen</surname>
<given-names>Honglei</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Chinnery</surname>
<given-names>Patrick F.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Chong</surname>
<given-names>Sean</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Clarke</surname>
<given-names>Carl E.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Cookson</surname>
<given-names>Mark R.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Counsell</surname>
<given-names>Carl</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Damier</surname>
<given-names>Philippe</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Dartigues</surname>
<given-names>Jean-François</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Deloukas</surname>
<given-names>Panos</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Deuschl</surname>
<given-names>Günther</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Dexter</surname>
<given-names>David T.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>van Dijk</surname>
<given-names>Karin D.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Dillman</surname>
<given-names>Allissa</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Dong</surname>
<given-names>Jing</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Durif</surname>
<given-names>Frank</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Edkins</surname>
<given-names>Sarah</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Escott-Price</surname>
<given-names>Valentina</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Evans</surname>
<given-names>Jonathan R.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Foltynie</surname>
<given-names>Thomas</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Gao</surname>
<given-names>Jianjun</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Gardner</surname>
<given-names>Michelle</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Goate</surname>
<given-names>Alison</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Gray</surname>
<given-names>Emma</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Guerreiro</surname>
<given-names>Rita</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Harris</surname>
<given-names>Clare</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>van Hilten</surname>
<given-names>Jacobus J.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Hofman</surname>
<given-names>Albert</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Hollenbeck</surname>
<given-names>Albert</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Holmans</surname>
<given-names>Peter</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Holton</surname>
<given-names>Janice</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Hu</surname>
<given-names>Michèle</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Huang</surname>
<given-names>Xuemei</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Huber</surname>
<given-names>Heiko</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Hudson</surname>
<given-names>Gavin</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Hunt</surname>
<given-names>Sarah E.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Huttenlocher</surname>
<given-names>Johanna</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Illig</surname>
<given-names>Thomas</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Jónsson</surname>
<given-names>Pálmi V.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Kilarski</surname>
<given-names>Laura L.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Jansen</surname>
<given-names>Iris E.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Lambert</surname>
<given-names>Jean-Charles</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Langford</surname>
<given-names>Cordelia</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Lees</surname>
<given-names>Andrew</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Lichtner</surname>
<given-names>Peter</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Limousin</surname>
<given-names>Patricia</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Lopez</surname>
<given-names>Grisel</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Lorenz</surname>
<given-names>Delia</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Lubbe</surname>
<given-names>Steven</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Lungu</surname>
<given-names>Codrin</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Martinez</surname>
<given-names>María</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Mätzler</surname>
<given-names>Walter</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>McNeill</surname>
<given-names>Alisdair</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Moorby</surname>
<given-names>Catriona</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Moore</surname>
<given-names>Matthew</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Morrison</surname>
<given-names>Karen E.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Mudanohwo</surname>
<given-names>Ese</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>O’Sullivan</surname>
<given-names>Sean S.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Owen</surname>
<given-names>Michael J.</given-names>
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</contrib>
<contrib contrib-type="author"><name><surname>Pearson</surname>
<given-names>Justin</given-names>
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</contrib>
<contrib contrib-type="author"><name><surname>Perlmutter</surname>
<given-names>Joel S.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Pétursson</surname>
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</contrib>
<contrib contrib-type="author"><name><surname>Plagnol</surname>
<given-names>Vincent</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Pollak</surname>
<given-names>Pierre</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Post</surname>
<given-names>Bart</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Potter</surname>
<given-names>Simon</given-names>
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</contrib>
<contrib contrib-type="author"><name><surname>Ravina</surname>
<given-names>Bernard</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Revesz</surname>
<given-names>Tamas</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Riess</surname>
<given-names>Olaf</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Rivadeneira</surname>
<given-names>Fernando</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Rizzu</surname>
<given-names>Patrizia</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Ryten</surname>
<given-names>Mina</given-names>
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</contrib>
<contrib contrib-type="author"><name><surname>Saad</surname>
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</contrib>
<contrib contrib-type="author"><name><surname>Simón-Sánchez</surname>
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</name>
</contrib>
<contrib contrib-type="author"><name><surname>Sawcer</surname>
<given-names>Stephen</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Schapira</surname>
<given-names>Anthony</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Scheffer</surname>
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</contrib>
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</contrib>
<contrib contrib-type="author"><name><surname>Sharma</surname>
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</contrib>
<contrib contrib-type="author"><name><surname>Shaw</surname>
<given-names>Karen</given-names>
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</contrib>
<contrib contrib-type="author"><name><surname>Sheerin</surname>
<given-names>Una-Marie</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Shoulson</surname>
<given-names>Ira</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Shulman</surname>
<given-names>Joshua</given-names>
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</contrib>
<contrib contrib-type="author"><name><surname>Sidransky</surname>
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<given-names>Chris C.A.</given-names>
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<contrib contrib-type="author"><name><surname>Trabzuni</surname>
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<given-names>Robert</given-names>
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</contrib>
<contrib contrib-type="author"><name><surname>van de Warrenburg</surname>
<given-names>Bart</given-names>
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<contrib contrib-type="author"><name><surname>Wickremaratchi</surname>
<given-names>Mirdhu</given-names>
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<given-names>Caroline H.</given-names>
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<contrib contrib-type="author"><name><surname>Wurster</surname>
<given-names>Isabel</given-names>
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<contrib contrib-type="author"><name><surname>Williams</surname>
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</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>
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