Genetic variability of the retromer cargo recognition complex in parkinsonism.
Identifieur interne : 000225 ( PubMed/Checkpoint ); précédent : 000224; suivant : 000226Genetic variability of the retromer cargo recognition complex in parkinsonism.
Auteurs : Emil K. Gustavsson [Norvège] ; Ilaria Guella ; Joanne Trinh ; Chelsea Szu-Tu ; Alex Rajput ; Ali H. Rajput ; John C. Steele ; Martin Mckeown ; Beom S. Jeon ; Jan O. Aasly ; Matthew J. FarrerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Abstract
A pathogenic mutation (VPS35 p.D620N) within the retromer complex has been shown to segregate with late-onset Parkinson's disease (PD). Several studies have subsequently detected the mutation in patients with PD and not in controls.
DOI: 10.1002/mds.26104
PubMed: 25475142
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic variability of the retromer cargo recognition complex in parkinsonism.</title><author><name sortKey="Gustavsson, Emil K" sort="Gustavsson, Emil K" uniqKey="Gustavsson E" first="Emil K" last="Gustavsson">Emil K. Gustavsson</name><affiliation wicri:level="3"><nlm:affiliation>Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name></author><author><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name></author><author><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name></author><author><name sortKey="Steele, John C" sort="Steele, John C" uniqKey="Steele J" first="John C" last="Steele">John C. Steele</name></author><author><name sortKey="Mckeown, Martin" sort="Mckeown, Martin" uniqKey="Mckeown M" first="Martin" last="Mckeown">Martin Mckeown</name></author><author><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S" last="Jeon">Beom S. Jeon</name></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25475142</idno><idno type="pmid">25475142</idno><idno type="doi">10.1002/mds.26104</idno><idno type="wicri:Area/PubMed/Corpus">000332</idno><idno type="wicri:Area/PubMed/Curation">000332</idno><idno type="wicri:Area/PubMed/Checkpoint">000225</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Genetic variability of the retromer cargo recognition complex in parkinsonism.</title><author><name sortKey="Gustavsson, Emil K" sort="Gustavsson, Emil K" uniqKey="Gustavsson E" first="Emil K" last="Gustavsson">Emil K. Gustavsson</name><affiliation wicri:level="3"><nlm:affiliation>Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name></author><author><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name></author><author><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name></author><author><name sortKey="Steele, John C" sort="Steele, John C" uniqKey="Steele J" first="John C" last="Steele">John C. Steele</name></author><author><name sortKey="Mckeown, Martin" sort="Mckeown, Martin" uniqKey="Mckeown M" first="Martin" last="Mckeown">Martin Mckeown</name></author><author><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S" last="Jeon">Beom S. Jeon</name></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A pathogenic mutation (VPS35 p.D620N) within the retromer complex has been shown to segregate with late-onset Parkinson's disease (PD). Several studies have subsequently detected the mutation in patients with PD and not in controls.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="In-Process"><PMID Version="1">25475142</PMID><DateCreated><Year>2015</Year><Month>04</Month><Day>07</Day></DateCreated><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>30</Volume><Issue>4</Issue><PubDate><Year>2015</Year><Month>Apr</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Genetic variability of the retromer cargo recognition complex in parkinsonism.</ArticleTitle><Pagination><MedlinePgn>580-4</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26104</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">A pathogenic mutation (VPS35 p.D620N) within the retromer complex has been shown to segregate with late-onset Parkinson's disease (PD). Several studies have subsequently detected the mutation in patients with PD and not in controls.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Mutation screening of the coding regions of the retromer cargo recognition complex genes (VPS26A/B, VPS29, and VPS35) was carried out in patients with PD (n = 396), atypical parkinsonism (n = 229), and in 368 controls.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Overall, we identified five rare nonsynonymous mutations in VPS26A and one in VPS35; none were observed in VPS26B or VPS29. Three VPS26A variants (p.K93E, p.M112V, and p.K297X), identified in patients with atypical parkinsonism, were not observed in controls from this study (n = 368) or from publically available data sets (n = 4,426).</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Our results support the hypothesis that rare variants in the retromer complex genes may be involved in the development of parkinsonism, although further studies are warranted before any solid conclusions can be drawn.</AbstractText><CopyrightInformation>© 2014 International Parkinson and Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gustavsson</LastName><ForeName>Emil K</ForeName><Initials>EK</Initials><AffiliationInfo><Affiliation>Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guella</LastName><ForeName>Ilaria</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Trinh</LastName><ForeName>Joanne</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Szu-Tu</LastName><ForeName>Chelsea</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Rajput</LastName><ForeName>Alex</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Rajput</LastName><ForeName>Ali H</ForeName><Initials>AH</Initials></Author><Author ValidYN="Y"><LastName>Steele</LastName><ForeName>John C</ForeName><Initials>JC</Initials></Author><Author ValidYN="Y"><LastName>McKeown</LastName><ForeName>Martin</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Jeon</LastName><ForeName>Beom S</ForeName><Initials>BS</Initials></Author><Author ValidYN="Y"><LastName>Aasly</LastName><ForeName>Jan O</ForeName><Initials>JO</Initials></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>Matthew J</ForeName><Initials>MJ</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>12</Month><Day>05</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">NGS</Keyword><Keyword MajorTopicYN="N">VPS26 VPS29 VPS35</Keyword><Keyword MajorTopicYN="N">mutation screening</Keyword><Keyword MajorTopicYN="N">parkinsonism</Keyword><Keyword MajorTopicYN="N">retromer complex</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year><Month>8</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2014</Year><Month>10</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2014</Year><Month>10</Month><Day>7</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2014</Year><Month>12</Month><Day>5</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>12</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>12</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>12</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25475142</ArticleId><ArticleId IdType="doi">10.1002/mds.26104</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Norvège</li></country><region><li>Trøndelag</li></region><settlement><li>Trondheim</li></settlement></list><tree><noCountry><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S" last="Jeon">Beom S. Jeon</name><name sortKey="Mckeown, Martin" sort="Mckeown, Martin" uniqKey="Mckeown M" first="Martin" last="Mckeown">Martin Mckeown</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="Steele, John C" sort="Steele, John C" uniqKey="Steele J" first="John C" last="Steele">John C. Steele</name><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name></noCountry><country name="Norvège"><region name="Trøndelag"><name sortKey="Gustavsson, Emil K" sort="Gustavsson, Emil K" uniqKey="Gustavsson E" first="Emil K" last="Gustavsson">Emil K. Gustavsson</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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