Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
Identifieur interne : 000B09 ( Main/Merge ); précédent : 000B08; suivant : 000B10Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
Auteurs : Silke Appel-Cresswell [Canada] ; Carles Vilarino-Guell ; Mary Encarnacion ; Holly Sherman ; Irene Yu ; Brinda Shah ; David Weir ; Christina Thompson ; Chelsea Szu-Tu ; Joanne Trinh ; Jan O. Aasly ; Alex Rajput ; Ali H. Rajput ; A. Jon Stoessl ; Matthew J. FarrerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Glutamine, Histidine, alpha-Synuclein.
- genetics : Mutation, Parkinson Disease.
- Humans, Male, Middle Aged, Pedigree.
Abstract
Alpha-synuclein plays a central role in the pathophysiology of Parkinson's disease. Three missense mutations in SNCA, the gene encoding alpha-synuclein, as well as genomic multiplications have been identified as causes for autosomal-dominantly inherited Parkinsonism.
DOI: 10.1002/mds.25421
PubMed: 23457019
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pubmed:23457019Le document en format XML
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<author><name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia, Canada. silkec@mail.ubc.ca</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia</wicri:regionArea>
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<author><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Guell">Carles Vilarino-Guell</name>
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<author><name sortKey="Weir, David" sort="Weir, David" uniqKey="Weir D" first="David" last="Weir">David Weir</name>
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<author><name sortKey="Thompson, Christina" sort="Thompson, Christina" uniqKey="Thompson C" first="Christina" last="Thompson">Christina Thompson</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.</title>
<author><name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name>
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<author><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Guell">Carles Vilarino-Guell</name>
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<author><name sortKey="Encarnacion, Mary" sort="Encarnacion, Mary" uniqKey="Encarnacion M" first="Mary" last="Encarnacion">Mary Encarnacion</name>
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<author><name sortKey="Sherman, Holly" sort="Sherman, Holly" uniqKey="Sherman H" first="Holly" last="Sherman">Holly Sherman</name>
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<author><name sortKey="Weir, David" sort="Weir, David" uniqKey="Weir D" first="David" last="Weir">David Weir</name>
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<author><name sortKey="Thompson, Christina" sort="Thompson, Christina" uniqKey="Thompson C" first="Christina" last="Thompson">Christina Thompson</name>
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<author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name>
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<author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name>
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<author><name sortKey="Jon Stoessl, A" sort="Jon Stoessl, A" uniqKey="Jon Stoessl A" first="A" last="Jon Stoessl">A. Jon Stoessl</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2013" type="published">2013</date>
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<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Parkinson Disease (genetics)</term>
<term>Pedigree</term>
<term>alpha-Synuclein (genetics)</term>
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<term>Histidine</term>
<term>alpha-Synuclein</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term>
<term>Parkinson Disease</term>
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<term>Male</term>
<term>Middle Aged</term>
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<front><div type="abstract" xml:lang="en">Alpha-synuclein plays a central role in the pathophysiology of Parkinson's disease. Three missense mutations in SNCA, the gene encoding alpha-synuclein, as well as genomic multiplications have been identified as causes for autosomal-dominantly inherited Parkinsonism.</div>
</front>
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