Acid β‐glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α‐synuclein processing
Identifieur interne : 001892 ( Main/Exploration ); précédent : 001891; suivant : 001893Acid β‐glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α‐synuclein processing
Auteurs : Valerie Cullen [États-Unis] ; S. Pablo Sardi [États-Unis] ; Juliana Ng [Canada] ; You-Hai Xu [États-Unis] ; Ying Sun [États-Unis] ; Julianna J. Tomlinson [Canada] ; Piotr Kolodziej [Canada] ; Ilana Kahn [États-Unis] ; Paul Saftig [Allemagne] ; John Woulfe [Canada] ; Jean-Christophe Rochet [États-Unis] ; Marcie A. Glicksman [États-Unis] ; Seng H. Cheng [États-Unis] ; Gregory A. Grabowski [États-Unis] ; Lamya S. Shihabuddin [États-Unis] ; Michael G. Schlossmacher [États-Unis, Canada]Source :
- Annals of Neurology [ 0364-5134 ] ; 2011-06.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Heterozygous mutations in the GBA1 gene elevate the risk of Parkinson disease and dementia with Lewy bodies; both disorders are characterized by misprocessing of α‐synuclein (SNCA). A loss in lysosomal acid–β‐glucosidase enzyme (GCase) activity due to biallelic GBA1 mutations underlies Gaucher disease. We explored mechanisms for the gene's association with increased synucleinopathy risk.
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DOI: 10.1002/ana.22400
Affiliations:
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Grabowski</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati</wicri:cityArea></affiliation></author><author><name sortKey="Shihabuddin, Lamya S" sort="Shihabuddin, Lamya S" uniqKey="Shihabuddin L" first="Lamya S." last="Shihabuddin">Lamya S. Shihabuddin</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Genzyme Corporation, Framingham</wicri:cityArea></affiliation></author><author><name sortKey="Schlossmacher, Michael G" sort="Schlossmacher, Michael G" uniqKey="Schlossmacher M" first="Michael G." last="Schlossmacher">Michael G. Schlossmacher</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Center for Neurologic Diseases, Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neuroscience, Ottawa Hospital Research Institute, University of Ottawa, Ottawa, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><country>Canada</country><wicri:regionArea>451 Smyth Road, Roger Guindon Hall, Ottawa, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-06">2011-06</date><biblScope unit="volume">69</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="940">940</biblScope><biblScope unit="page" to="953">953</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">CC9A43851B491441CFC64245FB061A1CE9852FB4</idno><idno type="DOI">10.1002/ana.22400</idno><idno type="ArticleID">ANA22400</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gaucher disease</term><term>Lewy body dementia</term><term>Lewy body disease</term><term>Lipids</term><term>Nervous system diseases</term><term>Parkinson disease</term><term>β-Glucosidase</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Corps Lewy maladie</term><term>Démence à corps de Lewy</term><term>Lipide</term><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term><term>Sphingolipidose héréditaire de Gaucher</term><term>β-Glucosidase</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Heterozygous mutations in the GBA1 gene elevate the risk of Parkinson disease and dementia with Lewy bodies; both disorders are characterized by misprocessing of α‐synuclein (SNCA). A loss in lysosomal acid–β‐glucosidase enzyme (GCase) activity due to biallelic GBA1 mutations underlies Gaucher disease. We explored mechanisms for the gene's association with increased synucleinopathy risk.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Canada</li><li>États-Unis</li></country><region><li>Indiana</li><li>Massachusetts</li><li>Ohio</li><li>Schleswig-Holstein</li></region><settlement><li>Kiel</li></settlement></list><tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Cullen, Valerie" sort="Cullen, Valerie" uniqKey="Cullen V" first="Valerie" last="Cullen">Valerie Cullen</name></region><name sortKey="Cheng, Seng H" sort="Cheng, Seng H" uniqKey="Cheng S" first="Seng H." last="Cheng">Seng H. Cheng</name><name sortKey="Glicksman, Marcie A" sort="Glicksman, Marcie A" uniqKey="Glicksman M" first="Marcie A." last="Glicksman">Marcie A. Glicksman</name><name sortKey="Grabowski, Gregory A" sort="Grabowski, Gregory A" uniqKey="Grabowski G" first="Gregory A." last="Grabowski">Gregory A. Grabowski</name><name sortKey="Kahn, Ilana" sort="Kahn, Ilana" uniqKey="Kahn I" first="Ilana" last="Kahn">Ilana Kahn</name><name sortKey="Rochet, Jean Hristophe" sort="Rochet, Jean Hristophe" uniqKey="Rochet J" first="Jean-Christophe" last="Rochet">Jean-Christophe Rochet</name><name sortKey="Sardi, S Pablo" sort="Sardi, S Pablo" uniqKey="Sardi S" first="S. Pablo" last="Sardi">S. Pablo Sardi</name><name sortKey="Schlossmacher, Michael G" sort="Schlossmacher, Michael G" uniqKey="Schlossmacher M" first="Michael G." last="Schlossmacher">Michael G. Schlossmacher</name><name sortKey="Shihabuddin, Lamya S" sort="Shihabuddin, Lamya S" uniqKey="Shihabuddin L" first="Lamya S." last="Shihabuddin">Lamya S. Shihabuddin</name><name sortKey="Sun, Ying" sort="Sun, Ying" uniqKey="Sun Y" first="Ying" last="Sun">Ying Sun</name><name sortKey="Xu, You Ai" sort="Xu, You Ai" uniqKey="Xu Y" first="You-Hai" last="Xu">You-Hai Xu</name></country><country name="Canada"><noRegion><name sortKey="Ng, Juliana" sort="Ng, Juliana" uniqKey="Ng J" first="Juliana" last="Ng">Juliana Ng</name></noRegion><name sortKey="Kolodziej, Piotr" sort="Kolodziej, Piotr" uniqKey="Kolodziej P" first="Piotr" last="Kolodziej">Piotr Kolodziej</name><name sortKey="Schlossmacher, Michael G" sort="Schlossmacher, Michael G" uniqKey="Schlossmacher M" first="Michael G." last="Schlossmacher">Michael G. Schlossmacher</name><name sortKey="Schlossmacher, Michael G" sort="Schlossmacher, Michael G" uniqKey="Schlossmacher M" first="Michael G." last="Schlossmacher">Michael G. Schlossmacher</name><name sortKey="Tomlinson, Julianna J" sort="Tomlinson, Julianna J" uniqKey="Tomlinson J" first="Julianna J." last="Tomlinson">Julianna J. Tomlinson</name><name sortKey="Woulfe, John" sort="Woulfe, John" uniqKey="Woulfe J" first="John" last="Woulfe">John Woulfe</name></country><country name="Allemagne"><region name="Schleswig-Holstein"><name sortKey="Saftig, Paul" sort="Saftig, Paul" uniqKey="Saftig P" first="Paul" last="Saftig">Paul Saftig</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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