VPS35 Mutations in Parkinson Disease
Identifieur interne : 001902 ( Main/Exploration ); précédent : 001901; suivant : 001903VPS35 Mutations in Parkinson Disease
Auteurs : Carles Vilarino-Güell [Canada] ; Christian Wider [Suisse] ; Owen A. Ross [États-Unis] ; Justus C. Dachsel [États-Unis] ; Jennifer M. Kachergus [États-Unis] ; Sarah J. Lincoln [États-Unis] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Stephanie A. Cobb [États-Unis] ; Greggory J. Wilhoite [États-Unis] ; Justin A. Bacon [États-Unis] ; Bahareh Behrouz [États-Unis] ; Heather L. Melrose [États-Unis] ; Emna Hentati [États-Unis] ; Andreas Puschmann [États-Unis, Suède] ; Daniel M. Evans [Canada] ; Elizabeth Conibear [Canada] ; Wyeth W. Wasserman [Canada] ; Jan O. Aasly [Norvège] ; Pierre R. Burkhard [Suisse] ; Ruth Djaldetti [Israël] ; Joseph Ghika [Suisse] ; Faycal Hentati [Tunisie] ; Anna Krygowska-Wajs [Pologne] ; Tim Lynch [Irlande (pays)] ; Eldad Melamed [Israël] ; Alex Rajput [Canada] ; Ali H. Rajput [Canada] ; Alessandra Solida [Suisse] ; Ruey-Meei Wu [Taïwan] ; Ryan J. Uitti [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; François Vingerhoets [Suisse] ; Matthew J. Farrer [Canada, États-Unis]Source :
- American journal of human genetics [ 0002-9297 ] ; 2011.
Descripteurs français
English descriptors
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Abstract
The identification of genetic causes for Mendelian disorders has been based on the collection of multi-incident families, linkage analysis, and sequencing of genes in candidate intervals. This study describes the application of next-generation sequencing technologies to a Swiss kindred presenting with autosomal-dominant, late-onset Parkinson disease (PD). The family has tremor-predominant dopa-responsive parkinsonism with a mean onset of 50.6 ± 7.3 years. Exome analysis suggests that an aspartic-acid-to-asparagine mutation within vacuolar protein sorting 35 (VPS35 c.1858G>A; p.Asp620Asn) is the genetic determinant of disease. VPS35 is a central component of the retromer cargo-recognition complex, is critical for endosome-trans-golgi trafficking and membrane-protein recycling, and is evolutionarily highly conserved. VPS35 c.1858G>A was found in all affected members of the Swiss kindred and in three more families and one patient with sporadic PD, but it was not observed in 3,309 controls. Further sequencing of familial affected probands revealed only one other missense variant, VPS35 c.946C>T; (p.Pro316Ser), in a pedigree with one unaffected and two affected carriers, and thus the pathogenicity of this mutation remains uncertain. Retromer-mediated sorting and transport is best characterized for acid hydrolase receptors. However, the complex has many types of cargo and is involved in a diverse array of biologic pathways from developmental Wnt signaling to lysosome biogenesis. Our study implicates disruption of VPS35 and retromer-mediated trans-membrane protein sorting, rescue, and recycling in the neurodegenerative process leading to PD.
Affiliations:
- Canada, Irlande (pays), Israël, Norvège, Pologne, Suisse, Suède, Taïwan, Tunisie, États-Unis
- Canton de Vaud, Gouvernorat de Tunis, Trøndelag
- Lausanne, Trondheim, Tunis
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Evans</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medical Genetics, University of British Columbia, Vancouver</s1><s2>V6T 2B5 British Columbia</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>V6T 2B5 British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Conibear, Elizabeth" sort="Conibear, Elizabeth" uniqKey="Conibear E" first="Elizabeth" last="Conibear">Elizabeth Conibear</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medical Genetics, University of British Columbia, Vancouver</s1><s2>V6T 2B5 British Columbia</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>V6T 2B5 British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Wasserman, Wyeth W" sort="Wasserman, Wyeth W" uniqKey="Wasserman W" first="Wyeth W." last="Wasserman">Wyeth W. Wasserman</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medical Genetics, University of British Columbia, Vancouver</s1><s2>V6T 2B5 British Columbia</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>V6T 2B5 British Columbia</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="1"><inist:fA14 i1="05"><s1>Department of Neurology, St. Olav's Hospita</s1><s2>7006 Trondheim</s2><s3>NOR</s3><sZ>18 aut.</sZ></inist:fA14><country>Norvège</country><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Burkhard, Pierre R" sort="Burkhard, Pierre R" uniqKey="Burkhard P" first="Pierre R." last="Burkhard">Pierre R. Burkhard</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Geneva University Hospitals and Faculty of Medicine</s1><s2>1211 Geneva</s2><s3>CHE</s3><sZ>19 aut.</sZ></inist:fA14><country>Suisse</country><wicri:noRegion>1211 Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Movement Disorders Units, Department of Neurology, Rabin Medical Center, Petah Tiqwa, Tel Aviv University</s1><s2>Tel Aviv 49100</s2><s3>ISR</s3><sZ>20 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Israël</country><wicri:noRegion>Tel Aviv 49100</wicri:noRegion></affiliation></author><author><name sortKey="Ghika, Joseph" sort="Ghika, Joseph" uniqKey="Ghika J" first="Joseph" last="Ghika">Joseph Ghika</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Centre Hospitalier Universitaire Vaudois</s1><s2>1011 Lausanne</s2><s3>CHE</s3><sZ>2 aut.</sZ><sZ>21 aut.</sZ><sZ>28 aut.</sZ><sZ>32 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Service de Neurologie, Institut National de Neurologie, 1007 La Rabta</s1><s2>Tunis</s2><s3>TUN</s3><sZ>22 aut.</sZ></inist:fA14><country>Tunisie</country><placeName><settlement type="city">Tunis</settlement><region nuts="2">Gouvernorat de Tunis</region></placeName></affiliation></author><author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Neurology, Collegium Medicum, Jagiellonian University</s1><s2>31-358 Krakow</s2><s3>POL</s3><sZ>23 aut.</sZ></inist:fA14><country>Pologne</country><wicri:noRegion>31-358 Krakow</wicri:noRegion></affiliation></author><author><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Dublin Neurological Institute at the Mater Misericordiae University Hospital</s1><s2>Dublin</s2><s3>IRL</s3><sZ>24 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Dublin Neurological Institute at the Mater Misericordiae University Hospital</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Conway Institute of Biomolecular & Biomedical Research, University College Dublin</s1><s2>Dublin</s2><s3>IRL</s3><sZ>24 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Movement Disorders Units, Department of Neurology, Rabin Medical Center, Petah Tiqwa, Tel Aviv University</s1><s2>Tel Aviv 49100</s2><s3>ISR</s3><sZ>20 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Israël</country><wicri:noRegion>Tel Aviv 49100</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Division of Neurology, University of Saskatchewan and Saskatoon Health Region</s1><s2>Saskatoon, S7N 0W8 SK</s2><s3>CAN</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Saskatoon, S7N 0W8 SK</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H." last="Rajput">Ali H. Rajput</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Division of Neurology, University of Saskatchewan and Saskatoon Health Region</s1><s2>Saskatoon, S7N 0W8 SK</s2><s3>CAN</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Saskatoon, S7N 0W8 SK</wicri:noRegion></affiliation></author><author><name sortKey="Solida, Alessandra" sort="Solida, Alessandra" uniqKey="Solida A" first="Alessandra" last="Solida">Alessandra Solida</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Centre Hospitalier Universitaire Vaudois</s1><s2>1011 Lausanne</s2><s3>CHE</s3><sZ>2 aut.</sZ><sZ>21 aut.</sZ><sZ>28 aut.</sZ><sZ>32 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University</s1><s2>10617 Taipe</s2><s3>TWN</s3><sZ>29 aut.</sZ></inist:fA14><country>Taïwan</country><wicri:noRegion>10617 Taipe</wicri:noRegion></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL 32224</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"><inist:fA14 i1="14"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Vingerhoets, Francois" sort="Vingerhoets, Francois" uniqKey="Vingerhoets F" first="François" last="Vingerhoets">François Vingerhoets</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Centre Hospitalier Universitaire Vaudois</s1><s2>1011 Lausanne</s2><s3>CHE</s3><sZ>2 aut.</sZ><sZ>21 aut.</sZ><sZ>28 aut.</sZ><sZ>32 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></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"><inist:fA14 i1="01"><s1>Department of Medical Genetics, University of British Columbia, Vancouver</s1><s2>V6T 2B5 British Columbia</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>V6T 2B5 British Columbia</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">11-0353138</idno><date when="2011">2011</date><idno type="stanalyst">PASCAL 11-0353138 INIST</idno><idno type="RBID">Pascal:11-0353138</idno><idno type="wicri:Area/PascalFrancis/Corpus">000299</idno><idno type="wicri:Area/PascalFrancis/Curation">000964</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000207</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000207</idno><idno type="wicri:doubleKey">0002-9297:2011:Vilarino Guell C:vps:mutations:in</idno><idno type="wicri:Area/Main/Merge">001982</idno><idno type="wicri:Area/Main/Curation">001902</idno><idno type="wicri:Area/Main/Exploration">001902</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">VPS35 Mutations in Parkinson Disease</title><author><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Güell">Carles Vilarino-Güell</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medical Genetics, University of British Columbia, Vancouver</s1><s2>V6T 2B5 British Columbia</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>V6T 2B5 British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Centre Hospitalier Universitaire Vaudois</s1><s2>1011 Lausanne</s2><s3>CHE</s3><sZ>2 aut.</sZ><sZ>21 aut.</sZ><sZ>28 aut.</sZ><sZ>32 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></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"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Dachsel, Justus C" sort="Dachsel, Justus C" uniqKey="Dachsel J" first="Justus C." last="Dachsel">Justus C. Dachsel</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Wilhoite, Greggory J" sort="Wilhoite, Greggory J" uniqKey="Wilhoite G" first="Greggory J." last="Wilhoite">Greggory J. Wilhoite</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Behrouz, Bahareh" sort="Behrouz, Bahareh" uniqKey="Behrouz B" first="Bahareh" last="Behrouz">Bahareh Behrouz</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Melrose, Heather L" sort="Melrose, Heather L" uniqKey="Melrose H" first="Heather L." last="Melrose">Heather L. Melrose</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Hentati, Emna" sort="Hentati, Emna" uniqKey="Hentati E" first="Emna" last="Hentati">Emna Hentati</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Clinical Science, Section of Geriatric Psychiatry, Lund University</s1><s2>221 00 Lund</s2><s3>SWE</s3><sZ>14 aut.</sZ></inist:fA14><country>Suède</country><wicri:noRegion>221 00 Lund</wicri:noRegion></affiliation></author><author><name sortKey="Evans, Daniel M" sort="Evans, Daniel M" uniqKey="Evans D" first="Daniel M." last="Evans">Daniel M. Evans</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medical Genetics, University of British Columbia, Vancouver</s1><s2>V6T 2B5 British Columbia</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>V6T 2B5 British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Conibear, Elizabeth" sort="Conibear, Elizabeth" uniqKey="Conibear E" first="Elizabeth" last="Conibear">Elizabeth Conibear</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medical Genetics, University of British Columbia, Vancouver</s1><s2>V6T 2B5 British Columbia</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>V6T 2B5 British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Wasserman, Wyeth W" sort="Wasserman, Wyeth W" uniqKey="Wasserman W" first="Wyeth W." last="Wasserman">Wyeth W. Wasserman</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Medical Genetics, University of British Columbia, Vancouver</s1><s2>V6T 2B5 British Columbia</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>V6T 2B5 British Columbia</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="1"><inist:fA14 i1="05"><s1>Department of Neurology, St. Olav's Hospita</s1><s2>7006 Trondheim</s2><s3>NOR</s3><sZ>18 aut.</sZ></inist:fA14><country>Norvège</country><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Burkhard, Pierre R" sort="Burkhard, Pierre R" uniqKey="Burkhard P" first="Pierre R." last="Burkhard">Pierre R. Burkhard</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Geneva University Hospitals and Faculty of Medicine</s1><s2>1211 Geneva</s2><s3>CHE</s3><sZ>19 aut.</sZ></inist:fA14><country>Suisse</country><wicri:noRegion>1211 Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Movement Disorders Units, Department of Neurology, Rabin Medical Center, Petah Tiqwa, Tel Aviv University</s1><s2>Tel Aviv 49100</s2><s3>ISR</s3><sZ>20 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Israël</country><wicri:noRegion>Tel Aviv 49100</wicri:noRegion></affiliation></author><author><name sortKey="Ghika, Joseph" sort="Ghika, Joseph" uniqKey="Ghika J" first="Joseph" last="Ghika">Joseph Ghika</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Centre Hospitalier Universitaire Vaudois</s1><s2>1011 Lausanne</s2><s3>CHE</s3><sZ>2 aut.</sZ><sZ>21 aut.</sZ><sZ>28 aut.</sZ><sZ>32 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Service de Neurologie, Institut National de Neurologie, 1007 La Rabta</s1><s2>Tunis</s2><s3>TUN</s3><sZ>22 aut.</sZ></inist:fA14><country>Tunisie</country><placeName><settlement type="city">Tunis</settlement><region nuts="2">Gouvernorat de Tunis</region></placeName></affiliation></author><author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Neurology, Collegium Medicum, Jagiellonian University</s1><s2>31-358 Krakow</s2><s3>POL</s3><sZ>23 aut.</sZ></inist:fA14><country>Pologne</country><wicri:noRegion>31-358 Krakow</wicri:noRegion></affiliation></author><author><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Dublin Neurological Institute at the Mater Misericordiae University Hospital</s1><s2>Dublin</s2><s3>IRL</s3><sZ>24 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Dublin Neurological Institute at the Mater Misericordiae University Hospital</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Conway Institute of Biomolecular & Biomedical Research, University College Dublin</s1><s2>Dublin</s2><s3>IRL</s3><sZ>24 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Movement Disorders Units, Department of Neurology, Rabin Medical Center, Petah Tiqwa, Tel Aviv University</s1><s2>Tel Aviv 49100</s2><s3>ISR</s3><sZ>20 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Israël</country><wicri:noRegion>Tel Aviv 49100</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Division of Neurology, University of Saskatchewan and Saskatoon Health Region</s1><s2>Saskatoon, S7N 0W8 SK</s2><s3>CAN</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Saskatoon, S7N 0W8 SK</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H." last="Rajput">Ali H. Rajput</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Division of Neurology, University of Saskatchewan and Saskatoon Health Region</s1><s2>Saskatoon, S7N 0W8 SK</s2><s3>CAN</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Saskatoon, S7N 0W8 SK</wicri:noRegion></affiliation></author><author><name sortKey="Solida, Alessandra" sort="Solida, Alessandra" uniqKey="Solida A" first="Alessandra" last="Solida">Alessandra Solida</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Centre Hospitalier Universitaire Vaudois</s1><s2>1011 Lausanne</s2><s3>CHE</s3><sZ>2 aut.</sZ><sZ>21 aut.</sZ><sZ>28 aut.</sZ><sZ>32 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University</s1><s2>10617 Taipe</s2><s3>TWN</s3><sZ>29 aut.</sZ></inist:fA14><country>Taïwan</country><wicri:noRegion>10617 Taipe</wicri:noRegion></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL 32224</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"><inist:fA14 i1="14"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL 32224</wicri:noRegion></affiliation></author><author><name sortKey="Vingerhoets, Francois" sort="Vingerhoets, Francois" uniqKey="Vingerhoets F" first="François" last="Vingerhoets">François Vingerhoets</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Centre Hospitalier Universitaire Vaudois</s1><s2>1011 Lausanne</s2><s3>CHE</s3><sZ>2 aut.</sZ><sZ>21 aut.</sZ><sZ>28 aut.</sZ><sZ>32 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></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"><inist:fA14 i1="01"><s1>Department of Medical Genetics, University of British Columbia, Vancouver</s1><s2>V6T 2B5 British Columbia</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>V6T 2B5 British Columbia</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience, Mayo Clinic, Jacksonville</s1><s2>FL 32224</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>FL 32224</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetics</term><term>Human</term><term>Mutation</term><term>Parkinson disease</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term><term>Mutation</term><term>Génétique</term><term>Homme</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The identification of genetic causes for Mendelian disorders has been based on the collection of multi-incident families, linkage analysis, and sequencing of genes in candidate intervals. This study describes the application of next-generation sequencing technologies to a Swiss kindred presenting with autosomal-dominant, late-onset Parkinson disease (PD). The family has tremor-predominant dopa-responsive parkinsonism with a mean onset of 50.6 ± 7.3 years. Exome analysis suggests that an aspartic-acid-to-asparagine mutation within vacuolar protein sorting 35 (VPS35 c.1858G>A; p.Asp620Asn) is the genetic determinant of disease. VPS35 is a central component of the retromer cargo-recognition complex, is critical for endosome-trans-golgi trafficking and membrane-protein recycling, and is evolutionarily highly conserved. VPS35 c.1858G>A was found in all affected members of the Swiss kindred and in three more families and one patient with sporadic PD, but it was not observed in 3,309 controls. Further sequencing of familial affected probands revealed only one other missense variant, VPS35 c.946C>T; (p.Pro316Ser), in a pedigree with one unaffected and two affected carriers, and thus the pathogenicity of this mutation remains uncertain. Retromer-mediated sorting and transport is best characterized for acid hydrolase receptors. However, the complex has many types of cargo and is involved in a diverse array of biologic pathways from developmental Wnt signaling to lysosome biogenesis. Our study implicates disruption of VPS35 and retromer-mediated trans-membrane protein sorting, rescue, and recycling in the neurodegenerative process leading to PD.</div></front></TEI><affiliations><list><country><li>Canada</li><li>Irlande (pays)</li><li>Israël</li><li>Norvège</li><li>Pologne</li><li>Suisse</li><li>Suède</li><li>Taïwan</li><li>Tunisie</li><li>États-Unis</li></country><region><li>Canton de Vaud</li><li>Gouvernorat de Tunis</li><li>Trøndelag</li></region><settlement><li>Lausanne</li><li>Trondheim</li><li>Tunis</li></settlement></list><tree><country name="Canada"><noRegion><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Güell">Carles Vilarino-Güell</name></noRegion><name sortKey="Conibear, Elizabeth" sort="Conibear, Elizabeth" uniqKey="Conibear E" first="Elizabeth" last="Conibear">Elizabeth Conibear</name><name sortKey="Evans, Daniel M" sort="Evans, Daniel M" uniqKey="Evans D" first="Daniel M." last="Evans">Daniel M. Evans</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H." last="Rajput">Ali H. Rajput</name><name sortKey="Wasserman, Wyeth W" sort="Wasserman, Wyeth W" uniqKey="Wasserman W" first="Wyeth W." last="Wasserman">Wyeth W. Wasserman</name></country><country name="Suisse"><region name="Canton de Vaud"><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name></region><name sortKey="Burkhard, Pierre R" sort="Burkhard, Pierre R" uniqKey="Burkhard P" first="Pierre R." last="Burkhard">Pierre R. Burkhard</name><name sortKey="Ghika, Joseph" sort="Ghika, Joseph" uniqKey="Ghika J" first="Joseph" last="Ghika">Joseph Ghika</name><name sortKey="Solida, Alessandra" sort="Solida, Alessandra" uniqKey="Solida A" first="Alessandra" last="Solida">Alessandra Solida</name><name sortKey="Vingerhoets, Francois" sort="Vingerhoets, Francois" uniqKey="Vingerhoets F" first="François" last="Vingerhoets">François Vingerhoets</name></country><country name="États-Unis"><noRegion><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name></noRegion><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name><name sortKey="Behrouz, Bahareh" sort="Behrouz, Bahareh" uniqKey="Behrouz B" first="Bahareh" last="Behrouz">Bahareh Behrouz</name><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name><name sortKey="Dachsel, Justus C" sort="Dachsel, Justus C" uniqKey="Dachsel J" first="Justus C." last="Dachsel">Justus C. Dachsel</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Hentati, Emna" sort="Hentati, Emna" uniqKey="Hentati E" first="Emna" last="Hentati">Emna Hentati</name><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name><name sortKey="Melrose, Heather L" sort="Melrose, Heather L" uniqKey="Melrose H" first="Heather L." last="Melrose">Heather L. Melrose</name><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><name sortKey="Wilhoite, Greggory J" sort="Wilhoite, Greggory J" uniqKey="Wilhoite G" first="Greggory J." last="Wilhoite">Greggory J. Wilhoite</name><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name></country><country name="Suède"><noRegion><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name></noRegion></country><country name="Norvège"><region name="Trøndelag"><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name></region></country><country name="Israël"><noRegion><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name></noRegion><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name></country><country name="Tunisie"><region name="Gouvernorat de Tunis"><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name></region></country><country name="Pologne"><noRegion><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name></noRegion></country><country name="Irlande (pays)"><noRegion><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name></noRegion><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name></country><country name="Taïwan"><noRegion><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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