Parkinson's disease and α‐synuclein expression
Identifieur interne : 000190 ( Main/Curation ); précédent : 000189; suivant : 000191Parkinson's disease and α‐synuclein expression
Auteurs : Michael J. Devine [Royaume-Uni] ; Katrina Gwinn [États-Unis] ; Andrew Singleton [États-Unis] ; John Hardy [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-10.
English descriptors
- KwdEn :
Abstract
Genetic studies of Parkinson's disease over the last decade or more have revolutionized our understanding of this condition. α‐Synuclein was the first gene to be linked to Parkinson's disease, and is arguably the most important: the protein is the principal constituent of Lewy bodies, and variation at its locus is the major genetic risk factor for sporadic disease. Intriguingly, duplications and triplications of the locus, as well as point mutations, cause familial disease. Therefore, subtle alterations of α‐synuclein expression can manifest with a dramatic phenotype. We outline the clinical impact of α‐synuclein locus multiplications, and the implications that this has for Parkinson's disease pathogenesis. Finally, we discuss potential strategies for disease‐modifying therapies for this currently incurable disorder. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23948
Links toward previous steps (curation, corpus...)
- to stream Main, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000228
Links to Exploration step
ISTEX:CEFB5E7351F8F81DE7A34F0DB69855291A450B32Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Parkinson's disease and α‐synuclein expression</title>
<author><name sortKey="Devine, Michael J" sort="Devine, Michael J" uniqKey="Devine M" first="Michael J." last="Devine">Michael J. Devine</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gwinn, Katrina" sort="Gwinn, Katrina" uniqKey="Gwinn K" first="Katrina" last="Gwinn">Katrina Gwinn</name>
<affiliation wicri:level="2"><mods:affiliation>Baylor College of Medicine, Houston, Texas</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Baylor College of Medicine, Houston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<affiliation wicri:level="1"><mods:affiliation>National Institute for Aging, NIH, Bethesda, Maryland, USA</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Institute for Aging, NIH, Bethesda, Maryland</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:CEFB5E7351F8F81DE7A34F0DB69855291A450B32</idno>
<date when="2011" year="2011">2011</date>
<idno type="doi">10.1002/mds.23948</idno>
<idno type="url">https://api.istex.fr/document/CEFB5E7351F8F81DE7A34F0DB69855291A450B32/fulltext/pdf</idno>
<idno type="wicri:Area/Main/Corpus">000228</idno>
<idno type="wicri:Area/Main/Curation">000190</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Parkinson's disease and α‐synuclein expression</title>
<author><name sortKey="Devine, Michael J" sort="Devine, Michael J" uniqKey="Devine M" first="Michael J." last="Devine">Michael J. Devine</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gwinn, Katrina" sort="Gwinn, Katrina" uniqKey="Gwinn K" first="Katrina" last="Gwinn">Katrina Gwinn</name>
<affiliation wicri:level="2"><mods:affiliation>Baylor College of Medicine, Houston, Texas</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Baylor College of Medicine, Houston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<affiliation wicri:level="1"><mods:affiliation>National Institute for Aging, NIH, Bethesda, Maryland, USA</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Institute for Aging, NIH, Bethesda, Maryland</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London</wicri:regionArea>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2011-10">2011-10</date>
<biblScope unit="volume">26</biblScope>
<biblScope unit="issue">12</biblScope>
<biblScope unit="page" from="2160">2160</biblScope>
<biblScope unit="page" to="2168">2168</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">CEFB5E7351F8F81DE7A34F0DB69855291A450B32</idno>
<idno type="DOI">10.1002/mds.23948</idno>
<idno type="ArticleID">MDS23948</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkinsonism</term>
<term>genetics</term>
<term>α‐synuclein</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Genetic studies of Parkinson's disease over the last decade or more have revolutionized our understanding of this condition. α‐Synuclein was the first gene to be linked to Parkinson's disease, and is arguably the most important: the protein is the principal constituent of Lewy bodies, and variation at its locus is the major genetic risk factor for sporadic disease. Intriguingly, duplications and triplications of the locus, as well as point mutations, cause familial disease. Therefore, subtle alterations of α‐synuclein expression can manifest with a dramatic phenotype. We outline the clinical impact of α‐synuclein locus multiplications, and the implications that this has for Parkinson's disease pathogenesis. Finally, we discuss potential strategies for disease‐modifying therapies for this currently incurable disorder. © 2011 Movement Disorder Society</div>
</front>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000190 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 000190 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= ParkinsonV1 |flux= Main |étape= Curation |type= RBID |clé= ISTEX:CEFB5E7351F8F81DE7A34F0DB69855291A450B32 |texte= Parkinson's disease and α‐synuclein expression }}
This area was generated with Dilib version V0.6.23. |