Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism
Identifieur interne : 000114 ( Pmc/Checkpoint ); précédent : 000113; suivant : 000115Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism
Auteurs : Andreas Puschmann [Suède] ; Fabienne C. Fiesel [États-Unis] ; Thomas R. Caulfield [États-Unis] ; Roman Hudec [États-Unis] ; Maya Ando [États-Unis] ; Dominika Truban [États-Unis] ; Xu Hou [États-Unis] ; Kotaro Ogaki [États-Unis] ; Michael G. Heckman [États-Unis] ; Elle D. James [États-Unis] ; Maria Swanberg [Suède] ; Itzia Jimenez-Ferrer [Suède] ; Oskar Hansson [Suède] ; Grzegorz Opala [Pologne] ; Joanna Siuda [Pologne] ; Magdalena Boczarska-Jedynak [Pologne] ; Andrzej Friedman [Pologne] ; Dariusz Koziorowski [Pologne] ; Monika Rudzi Ska-Bar [Pologne] ; Jan O. Aasly [Norvège] ; Timothy Lynch [Irlande (pays)] ; George D. Mellick [Australie] ; Megha Mohan [Australie] ; Peter A. Silburn [Australie] ; Yanosh Sanotsky [Ukraine] ; Carles Vilari O-Güell [États-Unis, Canada] ; Matthew J. Farrer [États-Unis, Canada] ; Li Chen [États-Unis] ; Valina L. Dawson [États-Unis] ; Ted M. Dawson [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Owen A. Ross [États-Unis, Irlande (pays)] ; Wolfdieter Springer [États-Unis]Source :
- Brain [ 0006-8950 ] ; 2016.
Abstract
Heterozygous mutations in recessive Parkinson’s disease genes have been postulated to increase disease risk. Puschmann
Url:
DOI: 10.1093/brain/aww261
PubMed: 27807026
PubMed Central: 5379862
Affiliations:
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Mellick</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF12">12 Eskitis Institute for Drug Discovery, Griffith University, Nathan, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>12 Eskitis Institute for Drug Discovery, Griffith University, Nathan, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Mohan, Megha" sort="Mohan, Megha" uniqKey="Mohan M" first="Megha" last="Mohan">Megha Mohan</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF12">12 Eskitis Institute for Drug Discovery, Griffith University, Nathan, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>12 Eskitis Institute for Drug Discovery, Griffith University, Nathan, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF12">12 Eskitis Institute for Drug Discovery, Griffith University, Nathan, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>12 Eskitis Institute for Drug Discovery, Griffith University, Nathan, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF13">13 University of Queensland, Asia-Pacific Centre for Neuromodulation, Centre for Clinical Research, Brisbane, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>13 University of Queensland, Asia-Pacific Centre for Neuromodulation, Centre for Clinical Research, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Sanotsky, Yanosh" sort="Sanotsky, Yanosh" uniqKey="Sanotsky Y" first="Yanosh" last="Sanotsky">Yanosh Sanotsky</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF14">14 Lviv Regional Clinical Hospital, Lviv, Ukraine</nlm:aff><country xml:lang="fr">Ukraine</country><wicri:regionArea>14 Lviv Regional Clinical Hospital, Lviv</wicri:regionArea><wicri:noRegion>Lviv</wicri:noRegion></affiliation></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF15">15 Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>15 Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF15">15 Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>15 Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Chen, Li" sort="Chen, Li" uniqKey="Chen L" first="Li" last="Chen">Li Chen</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF16">16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF17">17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF18">18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685</wicri:regionArea><wicri:noRegion>LA 70130-2685</wicri:noRegion></affiliation></author><author><name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF16">16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF17">17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF18">18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685</wicri:regionArea><wicri:noRegion>LA 70130-2685</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF19">19 Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>19 Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF20">20 Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>20 Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation></author><author><name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF16">16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF17">17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF18">18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685</wicri:regionArea><wicri:noRegion>LA 70130-2685</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF19">19 Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>19 Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF21">21 Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>21 Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF22">22 Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>22 Department of Neurology, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF23">23 School of Medicine and Medical Science, University College Dublin, Dublin, Ireland</nlm:aff><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>23 School of Medicine and Medical Science, University College Dublin, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF24">24 Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>24 Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Springer, Wolfdieter" sort="Springer, Wolfdieter" uniqKey="Springer W" first="Wolfdieter" last="Springer">Wolfdieter Springer</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF24">24 Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>24 Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27807026</idno><idno type="pmc">5379862</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5379862</idno><idno type="RBID">PMC:5379862</idno><idno type="doi">10.1093/brain/aww261</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">000937</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000937</idno><idno type="wicri:Area/Pmc/Curation">000937</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000937</idno><idno type="wicri:Area/Pmc/Checkpoint">000114</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000114</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism</title><author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF1">1 Lund University, Department of Clinical Sciences Lund, Neurology, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>1 Lund University, Department of Clinical Sciences Lund, Neurology</wicri:regionArea><wicri:noRegion>Neurology</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF2">2 Department of Neurology, Skåne University Hospital, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>2 Department of Neurology, Skåne University Hospital</wicri:regionArea><wicri:noRegion>Skåne University Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Fiesel, Fabienne C" sort="Fiesel, Fabienne C" uniqKey="Fiesel F" first="Fabienne C." last="Fiesel">Fabienne C. Fiesel</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Caulfield, Thomas R" sort="Caulfield, Thomas R" uniqKey="Caulfield T" first="Thomas R." last="Caulfield">Thomas R. Caulfield</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Hudec, Roman" sort="Hudec, Roman" uniqKey="Hudec R" first="Roman" last="Hudec">Roman Hudec</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Ando, Maya" sort="Ando, Maya" uniqKey="Ando M" first="Maya" last="Ando">Maya Ando</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Truban, Dominika" sort="Truban, Dominika" uniqKey="Truban D" first="Dominika" last="Truban">Dominika Truban</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Hou, Xu" sort="Hou, Xu" uniqKey="Hou X" first="Xu" last="Hou">Xu Hou</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF4">4 Division of Biomedical Statistics and Informatics, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>4 Division of Biomedical Statistics and Informatics, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="James, Elle D" sort="James, Elle D" uniqKey="James E" first="Elle D." last="James">Elle D. James</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Swanberg, Maria" sort="Swanberg, Maria" uniqKey="Swanberg M" first="Maria" last="Swanberg">Maria Swanberg</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF5">5 Lund University, Department of Experimental Medical Science, Lund, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>5 Lund University, Department of Experimental Medical Science, Lund</wicri:regionArea><wicri:noRegion>Lund</wicri:noRegion></affiliation></author><author><name sortKey="Jimenez Ferrer, Itzia" sort="Jimenez Ferrer, Itzia" uniqKey="Jimenez Ferrer I" first="Itzia" last="Jimenez-Ferrer">Itzia Jimenez-Ferrer</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF5">5 Lund University, Department of Experimental Medical Science, Lund, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>5 Lund University, Department of Experimental Medical Science, Lund</wicri:regionArea><wicri:noRegion>Lund</wicri:noRegion></affiliation></author><author><name sortKey="Hansson, Oskar" sort="Hansson, Oskar" uniqKey="Hansson O" first="Oskar" last="Hansson">Oskar Hansson</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF6">6 Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>6 Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University</wicri:regionArea><wicri:noRegion>Lund University</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF7">7 Memory Clinic, Skåne University Hospital, Malmö, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>7 Memory Clinic, Skåne University Hospital, Malmö</wicri:regionArea><wicri:noRegion>Malmö</wicri:noRegion></affiliation></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF8">8 Department of Neurology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland</nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>8 Department of Neurology, School of Medicine in Katowice, Medical University of Silesia, Katowice</wicri:regionArea><wicri:noRegion>Katowice</wicri:noRegion></affiliation></author><author><name sortKey="Siuda, Joanna" sort="Siuda, Joanna" uniqKey="Siuda J" first="Joanna" last="Siuda">Joanna Siuda</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF8">8 Department of Neurology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland</nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>8 Department of Neurology, School of Medicine in Katowice, Medical University of Silesia, Katowice</wicri:regionArea><wicri:noRegion>Katowice</wicri:noRegion></affiliation></author><author><name sortKey="Boczarska Jedynak, Magdalena" sort="Boczarska Jedynak, Magdalena" uniqKey="Boczarska Jedynak M" first="Magdalena" last="Boczarska-Jedynak">Magdalena Boczarska-Jedynak</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF8">8 Department of Neurology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland</nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>8 Department of Neurology, School of Medicine in Katowice, Medical University of Silesia, Katowice</wicri:regionArea><wicri:noRegion>Katowice</wicri:noRegion></affiliation></author><author><name sortKey="Friedman, Andrzej" sort="Friedman, Andrzej" uniqKey="Friedman A" first="Andrzej" last="Friedman">Andrzej Friedman</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF9">9 Department of Neurology, Medical University of Warsaw, Poland</nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>9 Department of Neurology, Medical University of Warsaw</wicri:regionArea><wicri:noRegion>Medical University of Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Koziorowski, Dariusz" sort="Koziorowski, Dariusz" uniqKey="Koziorowski D" first="Dariusz" last="Koziorowski">Dariusz Koziorowski</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF9">9 Department of Neurology, Medical University of Warsaw, Poland</nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>9 Department of Neurology, Medical University of Warsaw</wicri:regionArea><wicri:noRegion>Medical University of Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Rudzi Ska Bar, Monika" sort="Rudzi Ska Bar, Monika" uniqKey="Rudzi Ska Bar M" first="Monika" last="Rudzi Ska-Bar">Monika Rudzi Ska-Bar</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF8">8 Department of Neurology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland</nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>8 Department of Neurology, School of Medicine in Katowice, Medical University of Silesia, Katowice</wicri:regionArea><wicri:noRegion>Katowice</wicri:noRegion></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name><affiliation wicri:level="3"><nlm:aff id="aww261-AFF10">10 Department of Neurology, St. Olav’s Hospital, and Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>10 Department of Neurology, St. Olav’s Hospital, and Department of Neuroscience, Norwegian University of Science and Technology, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF11">11 Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland</nlm:aff><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>11 Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF12">12 Eskitis Institute for Drug Discovery, Griffith University, Nathan, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>12 Eskitis Institute for Drug Discovery, Griffith University, Nathan, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Mohan, Megha" sort="Mohan, Megha" uniqKey="Mohan M" first="Megha" last="Mohan">Megha Mohan</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF12">12 Eskitis Institute for Drug Discovery, Griffith University, Nathan, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>12 Eskitis Institute for Drug Discovery, Griffith University, Nathan, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF12">12 Eskitis Institute for Drug Discovery, Griffith University, Nathan, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>12 Eskitis Institute for Drug Discovery, Griffith University, Nathan, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF13">13 University of Queensland, Asia-Pacific Centre for Neuromodulation, Centre for Clinical Research, Brisbane, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>13 University of Queensland, Asia-Pacific Centre for Neuromodulation, Centre for Clinical Research, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Sanotsky, Yanosh" sort="Sanotsky, Yanosh" uniqKey="Sanotsky Y" first="Yanosh" last="Sanotsky">Yanosh Sanotsky</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF14">14 Lviv Regional Clinical Hospital, Lviv, Ukraine</nlm:aff><country xml:lang="fr">Ukraine</country><wicri:regionArea>14 Lviv Regional Clinical Hospital, Lviv</wicri:regionArea><wicri:noRegion>Lviv</wicri:noRegion></affiliation></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF15">15 Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>15 Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF15">15 Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>15 Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Chen, Li" sort="Chen, Li" uniqKey="Chen L" first="Li" last="Chen">Li Chen</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF16">16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF17">17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF18">18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685</wicri:regionArea><wicri:noRegion>LA 70130-2685</wicri:noRegion></affiliation></author><author><name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF16">16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF17">17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF18">18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685</wicri:regionArea><wicri:noRegion>LA 70130-2685</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF19">19 Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>19 Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF20">20 Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>20 Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation></author><author><name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF16">16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF17">17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF18">18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685</wicri:regionArea><wicri:noRegion>LA 70130-2685</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF19">19 Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>19 Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF21">21 Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>21 Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea><wicri:noRegion>MD 21205</wicri:noRegion></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF22">22 Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>22 Department of Neurology, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF23">23 School of Medicine and Medical Science, University College Dublin, Dublin, Ireland</nlm:aff><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>23 School of Medicine and Medical Science, University College Dublin, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF24">24 Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>24 Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Springer, Wolfdieter" sort="Springer, Wolfdieter" uniqKey="Springer W" first="Wolfdieter" last="Springer">Wolfdieter Springer</name><affiliation wicri:level="1"><nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aww261-AFF24">24 Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>24 Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, FL 32224</wicri:regionArea><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author></analytic><series><title level="j">Brain</title><idno type="ISSN">0006-8950</idno><idno type="eISSN">1460-2156</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><bold>See Gandhi and Plun-Favreau (doi:<related-article id="d35e428" related-article-type="companion" ext-link-type="doi" xlink:href="10.1093/brain/aww320">10.1093/aww320</related-article>) for a scientific commentary on this article</bold>.</p><p>Heterozygous mutations in recessive Parkinson’s disease genes have been postulated to increase disease risk. Puschmann <italic>et al</italic>. report a genetic association between heterozygous PINK1 p.G411S and Parkinson’s disease. 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Brain</journal-id><journal-id journal-id-type="iso-abbrev">Brain</journal-id><journal-id journal-id-type="publisher-id">brainj</journal-id><journal-title-group><journal-title>Brain</journal-title></journal-title-group><issn pub-type="ppub">0006-8950</issn><issn pub-type="epub">1460-2156</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27807026</article-id><article-id pub-id-type="pmc">5379862</article-id><article-id pub-id-type="doi">10.1093/brain/aww261</article-id><article-id pub-id-type="publisher-id">aww261</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Articles</subject></subj-group></article-categories><title-group><article-title>Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Puschmann</surname><given-names>Andreas</given-names></name><xref ref-type="aff" rid="aww261-AFF1"></xref><xref ref-type="aff" rid="aww261-AFF2"></xref><xref ref-type="author-notes" rid="aww261-FN1"></xref><xref ref-type="corresp" rid="aww261-COR2"></xref><pmc-comment>Andreas.Puschmann@med.lu.se </pmc-comment>
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contrib-type="author"><name><surname>Ogaki</surname><given-names>Kotaro</given-names></name><xref ref-type="aff" rid="aww261-AFF3"></xref></contrib><contrib contrib-type="author"><name><surname>Heckman</surname><given-names>Michael G.</given-names></name><xref ref-type="aff" rid="aww261-AFF4"></xref></contrib><contrib contrib-type="author"><name><surname>James</surname><given-names>Elle D.</given-names></name><xref ref-type="aff" rid="aww261-AFF3"></xref></contrib><contrib contrib-type="author"><name><surname>Swanberg</surname><given-names>Maria</given-names></name><xref ref-type="aff" rid="aww261-AFF5"></xref></contrib><contrib contrib-type="author"><name><surname>Jimenez-Ferrer</surname><given-names>Itzia</given-names></name><xref ref-type="aff" rid="aww261-AFF5"></xref></contrib><contrib contrib-type="author"><name><surname>Hansson</surname><given-names>Oskar</given-names></name><xref ref-type="aff" rid="aww261-AFF6"></xref><xref ref-type="aff" rid="aww261-AFF7"></xref></contrib><contrib contrib-type="author"><name><surname>Opala</surname><given-names>Grzegorz</given-names></name><xref ref-type="aff" rid="aww261-AFF8"></xref></contrib><contrib contrib-type="author"><name><surname>Siuda</surname><given-names>Joanna</given-names></name><xref ref-type="aff" rid="aww261-AFF8"></xref></contrib><contrib contrib-type="author"><name><surname>Boczarska-Jedynak</surname><given-names>Magdalena</given-names></name><xref ref-type="aff" rid="aww261-AFF8"></xref></contrib><contrib contrib-type="author"><name><surname>Friedman</surname><given-names>Andrzej</given-names></name><xref ref-type="aff" rid="aww261-AFF9"></xref></contrib><contrib contrib-type="author"><name><surname>Koziorowski</surname><given-names>Dariusz</given-names></name><xref ref-type="aff" rid="aww261-AFF9"></xref></contrib><contrib contrib-type="author"><name><surname>Rudzińska-Bar</surname><given-names>Monika</given-names></name><xref ref-type="aff" rid="aww261-AFF8"></xref></contrib><contrib contrib-type="author"><name><surname>Aasly</surname><given-names>Jan O.</given-names></name><xref ref-type="aff" rid="aww261-AFF10"></xref></contrib><contrib contrib-type="author"><name><surname>Lynch</surname><given-names>Timothy</given-names></name><xref ref-type="aff" rid="aww261-AFF11"></xref></contrib><contrib contrib-type="author"><name><surname>Mellick</surname><given-names>George D.</given-names></name><xref ref-type="aff" rid="aww261-AFF12"></xref></contrib><contrib contrib-type="author"><name><surname>Mohan</surname><given-names>Megha</given-names></name><xref ref-type="aff" rid="aww261-AFF12"></xref></contrib><contrib contrib-type="author"><name><surname>Silburn</surname><given-names>Peter A.</given-names></name><xref ref-type="aff" rid="aww261-AFF12"></xref><xref ref-type="aff" rid="aww261-AFF13"></xref></contrib><contrib contrib-type="author"><name><surname>Sanotsky</surname><given-names>Yanosh</given-names></name><xref ref-type="aff" rid="aww261-AFF14"></xref></contrib><contrib contrib-type="author"><name><surname>Vilariño-Güell</surname><given-names>Carles</given-names></name><xref ref-type="aff" rid="aww261-AFF3"></xref><xref ref-type="aff" rid="aww261-AFF15"></xref></contrib><contrib contrib-type="author"><name><surname>Farrer</surname><given-names>Matthew J.</given-names></name><xref ref-type="aff" rid="aww261-AFF3"></xref><xref ref-type="aff" rid="aww261-AFF15"></xref></contrib><contrib contrib-type="author"><name><surname>Chen</surname><given-names>Li</given-names></name><xref ref-type="aff" rid="aww261-AFF16"></xref><xref ref-type="aff" rid="aww261-AFF17"></xref><xref ref-type="aff" rid="aww261-AFF18"></xref></contrib><contrib contrib-type="author"><name><surname>Dawson</surname><given-names>Valina L.</given-names></name><xref ref-type="aff" rid="aww261-AFF16"></xref><xref ref-type="aff" rid="aww261-AFF17"></xref><xref ref-type="aff" rid="aww261-AFF18"></xref><xref ref-type="aff" rid="aww261-AFF19"></xref><xref ref-type="aff" rid="aww261-AFF20"></xref></contrib><contrib contrib-type="author"><name><surname>Dawson</surname><given-names>Ted M.</given-names></name><xref ref-type="aff" rid="aww261-AFF16"></xref><xref ref-type="aff" rid="aww261-AFF17"></xref><xref ref-type="aff" rid="aww261-AFF18"></xref><xref ref-type="aff" rid="aww261-AFF19"></xref><xref ref-type="aff" rid="aww261-AFF21"></xref></contrib><contrib contrib-type="author"><name><surname>Wszolek</surname><given-names>Zbigniew K.</given-names></name><xref ref-type="aff" rid="aww261-AFF22"></xref></contrib><contrib contrib-type="author"><name><surname>Ross</surname><given-names>Owen A.</given-names></name><xref ref-type="aff" rid="aww261-AFF3"></xref><xref ref-type="aff" rid="aww261-AFF23"></xref><xref ref-type="aff" rid="aww261-AFF24"></xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Springer</surname><given-names>Wolfdieter</given-names></name><xref ref-type="aff" rid="aww261-AFF3"></xref><xref ref-type="aff" rid="aww261-AFF24"></xref><xref ref-type="corresp" rid="aww261-COR1"></xref><pmc-comment>Springer.Wolfdieter@mayo.edu </pmc-comment>
</contrib></contrib-group><aff id="aww261-AFF1">1 Lund University, Department of Clinical Sciences Lund, Neurology, Sweden</aff><aff id="aww261-AFF2">2 Department of Neurology, Skåne University Hospital, Sweden</aff><aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</aff><aff id="aww261-AFF4">4 Division of Biomedical Statistics and Informatics, Mayo Clinic, Jacksonville, FL 32224, USA</aff><aff id="aww261-AFF5">5 Lund University, Department of Experimental Medical Science, Lund, Sweden</aff><aff id="aww261-AFF6">6 Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Sweden</aff><aff id="aww261-AFF7">7 Memory Clinic, Skåne University Hospital, Malmö, Sweden</aff><aff id="aww261-AFF8">8 Department of Neurology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland</aff><aff id="aww261-AFF9">9 Department of Neurology, Medical University of Warsaw, Poland</aff><aff id="aww261-AFF10">10 Department of Neurology, St. Olav’s Hospital, and Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</aff><aff id="aww261-AFF11">11 Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland</aff><aff id="aww261-AFF12">12 Eskitis Institute for Drug Discovery, Griffith University, Nathan, Queensland, Australia</aff><aff id="aww261-AFF13">13 University of Queensland, Asia-Pacific Centre for Neuromodulation, Centre for Clinical Research, Brisbane, Queensland, Australia</aff><aff id="aww261-AFF14">14 Lviv Regional Clinical Hospital, Lviv, Ukraine</aff><aff id="aww261-AFF15">15 Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada</aff><aff id="aww261-AFF16">16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</aff><aff id="aww261-AFF17">17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</aff><aff id="aww261-AFF18">18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685, USA</aff><aff id="aww261-AFF19">19 Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</aff><aff id="aww261-AFF20">20 Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</aff><aff id="aww261-AFF21">21 Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</aff><aff id="aww261-AFF22">22 Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA</aff><aff id="aww261-AFF23">23 School of Medicine and Medical Science, University College Dublin, Dublin, Ireland</aff><aff id="aww261-AFF24">24 Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, FL 32224, USA</aff><author-notes><corresp id="aww261-COR1">Correspondence to: Wolfdieter Springer, PhD, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA E-mail: <email>Springer.Wolfdieter@mayo.edu</email></corresp><corresp id="aww261-COR2">Correspondence may also be addressed to: Andreas Puschmann, MD, PhD, Department of Neurology, Skåne University Hospital, Getingevägen 4, 221 85 Lund, Sweden E-mail: <email>Andreas.Puschmann@med.lu.se</email></corresp><fn id="aww261-FN1"><p>*These authors contributed equally to this work.</p></fn><fn id="aww261-FN2"><p>See Gandhi and Plun-Favreau (doi:<related-article id="d35e355" related-article-type="companion" ext-link-type="doi" xlink:href="10.1093/brain/aww320">10.1093/aww320</related-article>) for a scientific commentary on this article.</p></fn></author-notes><pub-date pub-type="ppub"><month>1</month><year>2017</year></pub-date><pub-date pub-type="epub" iso-8601-date="2016-11-02"><day>02</day><month>11</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>02</day><month>11</month><year>2016</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>140</volume><issue>1</issue><fpage>98</fpage><lpage>117</lpage><history><date date-type="received"><day>9</day><month>3</month><year>2016</year></date><date date-type="rev-recd"><day>31</day><month>8</month><year>2016</year></date><date date-type="accepted"><day>2</day><month>9</month><year>2016</year></date></history><permissions><copyright-statement>© The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain.</copyright-statement><copyright-year>2016</copyright-year><license license-type="cc-by-nc" xlink:href="http://creativecommons.org/licenses/by-nc/4.0/"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/4.0/">http://creativecommons.org/licenses/by-nc/4.0/</ext-link>), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com</license-p></license></permissions><self-uri xlink:href="aww261.pdf"></self-uri><abstract abstract-type="precis"><p><bold>See Gandhi and Plun-Favreau (doi:<related-article id="d35e428" related-article-type="companion" ext-link-type="doi" xlink:href="10.1093/brain/aww320">10.1093/aww320</related-article>) for a scientific commentary on this article</bold>.</p><p>Heterozygous mutations in recessive Parkinson’s disease genes have been postulated to increase disease risk. Puschmann <italic>et al</italic>. report a genetic association between heterozygous PINK1 p.G411S and Parkinson’s disease. They provide structural and functional explanations for a partial dominant-negative effect of the mutant protein, which impairs wild-type PINK1 activity through hetero-dimerization.</p></abstract><abstract abstract-type="graphical"><p><fig id="fig1g" fig-type="featured" orientation="portrait" position="float"><caption><p><bold>See Gandhi and Plun-Favreau (doi:<related-article id="d35e446" related-article-type="companion" ext-link-type="doi" xlink:href="10.1093/brain/aww320">10.1093/aww320</related-article>) for a scientific commentary on this article</bold>.</p><p>Heterozygous mutations in recessive Parkinson’s disease genes have been postulated to increase disease risk. Puschmann <italic>et al</italic>. report a genetic association between heterozygous PINK1 p.G411S and Parkinson’s disease. They provide structural and functional explanations for a partial dominant-negative effect of the mutant protein, which impairs wild-type PINK1 activity through hetero-dimerization.</p></caption><graphic xlink:href="aww261fig1g"></graphic></fig></p></abstract><abstract><p><bold>See Gandhi and Plun-Favreau (doi:<related-article id="d35e462" related-article-type="companion" ext-link-type="doi" xlink:href="10.1093/brain/aww320">10.1093/aww320</related-article>) for a scientific commentary on this article</bold>.</p><p>It has been postulated that heterozygous mutations in recessive Parkinson’s genes may increase the risk of developing the disease. In particular, the PTEN-induced putative kinase 1 (<italic>PINK1</italic>) p.G411S (c.1231G>A, rs45478900) mutation has been reported in families with dominant inheritance patterns of Parkinson’s disease, suggesting that it might confer a sizeable disease risk when present on only one allele. We examined families with PINK1 p.G411S and conducted a genetic association study with 2560 patients with Parkinson’s disease and 2145 control subjects. Heterozygous PINK1 p.G411S mutations markedly increased Parkinson’s disease risk (odds ratio = 2.92, <italic>P</italic> = 0.032); significance remained when supplementing with results from previous studies on 4437 additional subjects (odds ratio = 2.89, <italic>P</italic> = 0.027). We analysed primary human skin fibroblasts and induced neurons from heterozygous PINK1 p.G411S carriers compared to PINK1 p.Q456X heterozygotes and PINK1 wild-type controls under endogenous conditions. While cells from PINK1 p.Q456X heterozygotes showed reduced levels of PINK1 protein and decreased initial kinase activity upon mitochondrial damage, stress-response was largely unaffected over time, as expected for a recessive loss-of-function mutation. By contrast, PINK1 p.G411S heterozygotes showed no decrease of PINK1 protein levels but a sustained, significant reduction in kinase activity. Molecular modelling and dynamics simulations as well as multiple functional assays revealed that the p.G411S mutation interferes with ubiquitin phosphorylation by wild-type PINK1 in a heterodimeric complex. This impairs the protective functions of the PINK1/parkin-mediated mitochondrial quality control. Based on genetic and clinical evaluation as well as functional and structural characterization, we established p.G411S as a rare genetic risk factor with a relatively large effect size conferred by a partial dominant-negative function phenotype.</p></abstract><kwd-group kwd-group-type="keywords"><kwd>Parkinson’s disease</kwd><kwd>PINK1</kwd><kwd>heterozygous mutation</kwd><kwd>ubiquitin</kwd><kwd>mitophagy</kwd></kwd-group><funding-group><award-group><award-id>NINDS) [R01 #NS085070</award-id><award-id>P50 #NS072187</award-id><award-id>[R01 #NS078086]</award-id></award-group><award-group><funding-source><named-content content-type="funder-name">Lund University, Sweden</named-content></funding-source><award-id>NIH/NINDS NS38377, MDSCRF 2007-MSCRFI-0420-00, 2009-MSCRFII-0125-00, MDSCRF 2012-MSCRFII-0268-00, MDSCRF 2013-MSCRFII-0105-00</award-id><award-id>NIH/NINDS NS38377, MDSCRF 2007-MSCRFI-0420-00, 2009-MSCRFII-0125-00, MDSCRF 2012-MSCRFII-0268-00, MDSCRF 2013-MSCRFII-0105-00</award-id></award-group></funding-group><counts><page-count count="20"></page-count></counts></article-meta></front></pmc><affiliations><list><country><li>Australie</li><li>Canada</li><li>Irlande (pays)</li><li>Norvège</li><li>Pologne</li><li>Suède</li><li>Ukraine</li><li>États-Unis</li></country><region><li>Trøndelag</li></region><settlement><li>Trondheim</li></settlement></list><tree><country name="Suède"><noRegion><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name></noRegion><name sortKey="Hansson, Oskar" sort="Hansson, Oskar" uniqKey="Hansson O" first="Oskar" last="Hansson">Oskar Hansson</name><name sortKey="Hansson, Oskar" sort="Hansson, Oskar" uniqKey="Hansson O" first="Oskar" last="Hansson">Oskar Hansson</name><name sortKey="Jimenez Ferrer, Itzia" sort="Jimenez Ferrer, Itzia" uniqKey="Jimenez Ferrer I" first="Itzia" last="Jimenez-Ferrer">Itzia Jimenez-Ferrer</name><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name><name sortKey="Swanberg, Maria" sort="Swanberg, Maria" uniqKey="Swanberg M" first="Maria" last="Swanberg">Maria Swanberg</name></country><country name="États-Unis"><noRegion><name sortKey="Fiesel, Fabienne C" sort="Fiesel, Fabienne C" uniqKey="Fiesel F" first="Fabienne C." last="Fiesel">Fabienne C. Fiesel</name></noRegion><name sortKey="Ando, Maya" sort="Ando, Maya" uniqKey="Ando M" first="Maya" last="Ando">Maya Ando</name><name sortKey="Caulfield, Thomas R" sort="Caulfield, Thomas R" uniqKey="Caulfield T" first="Thomas R." last="Caulfield">Thomas R. Caulfield</name><name sortKey="Chen, Li" sort="Chen, Li" uniqKey="Chen L" first="Li" last="Chen">Li Chen</name><name sortKey="Chen, Li" sort="Chen, Li" uniqKey="Chen L" first="Li" last="Chen">Li Chen</name><name sortKey="Chen, Li" sort="Chen, Li" uniqKey="Chen L" first="Li" last="Chen">Li Chen</name><name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name><name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name><name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name><name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name><name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name><name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name><name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name><name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name><name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name><name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name><name sortKey="Hou, Xu" sort="Hou, Xu" uniqKey="Hou X" first="Xu" last="Hou">Xu Hou</name><name sortKey="Hudec, Roman" sort="Hudec, Roman" uniqKey="Hudec R" first="Roman" last="Hudec">Roman Hudec</name><name sortKey="James, Elle D" sort="James, Elle D" uniqKey="James E" first="Elle D." last="James">Elle D. James</name><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><name sortKey="Springer, Wolfdieter" sort="Springer, Wolfdieter" uniqKey="Springer W" first="Wolfdieter" last="Springer">Wolfdieter Springer</name><name sortKey="Springer, Wolfdieter" sort="Springer, Wolfdieter" uniqKey="Springer W" first="Wolfdieter" last="Springer">Wolfdieter Springer</name><name sortKey="Truban, Dominika" sort="Truban, Dominika" uniqKey="Truban D" first="Dominika" last="Truban">Dominika Truban</name><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. 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Aasly</name></region></country><country name="Irlande (pays)"><noRegion><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name></noRegion><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name></country><country name="Australie"><noRegion><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name></noRegion><name sortKey="Mohan, Megha" sort="Mohan, Megha" uniqKey="Mohan M" first="Megha" last="Mohan">Megha Mohan</name><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name></country><country name="Ukraine"><noRegion><name sortKey="Sanotsky, Yanosh" sort="Sanotsky, Yanosh" uniqKey="Sanotsky Y" first="Yanosh" last="Sanotsky">Yanosh Sanotsky</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name></noRegion><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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