The role of SCARB2 as susceptibility factor in Parkinson's disease.
Identifieur interne : 000731 ( Main/Exploration ); précédent : 000730; suivant : 000732The role of SCARB2 as susceptibility factor in Parkinson's disease.
Auteurs : Franziska Hopfner [Allemagne] ; Eva C. Schulte ; Brit Mollenhauer ; Benjamin Bereznai ; Franziska Knauf ; Peter Lichtner ; Alexander Zimprich ; Dietrich Haubenberger ; Walter Pirker ; Thomas Brücke ; Annette Peters ; Christian Gieger ; Gregor Kuhlenb Umer ; Claudia Trenkwalder ; Juliane WinkelmannSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Aged, Aged, 80 and over, Female, Genetic Predisposition to Disease, Genetic Variation (genetics), Genotype, Glucosylceramidase (genetics), Humans, Lysosome-Associated Membrane Glycoproteins (genetics), Male, Middle Aged, Mutation (genetics), Parkinson Disease (genetics), Polymorphism, Single Nucleotide (genetics), Receptors, Scavenger (genetics), Risk Factors.
- MESH :
- chemical , genetics : Glucosylceramidase, Lysosome-Associated Membrane Glycoproteins, Receptors, Scavenger.
- genetics : Genetic Variation, Mutation, Parkinson Disease, Polymorphism, Single Nucleotide.
- Aged, Aged, 80 and over, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Risk Factors.
Abstract
Genetic variation in the glucocerebrosidase (GBA) gene is strongly associated with Parkinson's disease (PD). Transport of glucocerebrosidase to the lysosome involves the protein encoded by the SCARB2 gene. An association between the common SNP rs6812193, upstream of SCARB2, and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined.
DOI: 10.1002/mds.25349
PubMed: 23408458
Affiliations:
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Le document en format XML
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Schulte</name></author><author><name sortKey="Mollenhauer, Brit" sort="Mollenhauer, Brit" uniqKey="Mollenhauer B" first="Brit" last="Mollenhauer">Brit Mollenhauer</name></author><author><name sortKey="Bereznai, Benjamin" sort="Bereznai, Benjamin" uniqKey="Bereznai B" first="Benjamin" last="Bereznai">Benjamin Bereznai</name></author><author><name sortKey="Knauf, Franziska" sort="Knauf, Franziska" uniqKey="Knauf F" first="Franziska" last="Knauf">Franziska Knauf</name></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name></author><author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></author><author><name sortKey="Haubenberger, Dietrich" sort="Haubenberger, Dietrich" uniqKey="Haubenberger D" first="Dietrich" last="Haubenberger">Dietrich Haubenberger</name></author><author><name sortKey="Pirker, Walter" sort="Pirker, Walter" uniqKey="Pirker W" first="Walter" last="Pirker">Walter Pirker</name></author><author><name sortKey="Brucke, Thomas" sort="Brucke, Thomas" uniqKey="Brucke T" first="Thomas" last="Brücke">Thomas Brücke</name></author><author><name sortKey="Peters, Annette" sort="Peters, Annette" uniqKey="Peters A" first="Annette" last="Peters">Annette Peters</name></author><author><name sortKey="Gieger, Christian" sort="Gieger, Christian" uniqKey="Gieger C" first="Christian" last="Gieger">Christian Gieger</name></author><author><name sortKey="Kuhlenb Umer, Gregor" sort="Kuhlenb Umer, Gregor" uniqKey="Kuhlenb Umer G" first="Gregor" last="Kuhlenb Umer">Gregor Kuhlenb Umer</name></author><author><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name></author><author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</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="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genetic Variation (genetics)</term><term>Genotype</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Lysosome-Associated Membrane Glycoproteins (genetics)</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Receptors, Scavenger (genetics)</term><term>Risk Factors</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term><term>Lysosome-Associated Membrane Glycoproteins</term><term>Receptors, Scavenger</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Variation</term><term>Mutation</term><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Risk Factors</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic variation in the glucocerebrosidase (GBA) gene is strongly associated with Parkinson's disease (PD). Transport of glucocerebrosidase to the lysosome involves the protein encoded by the SCARB2 gene. An association between the common SNP rs6812193, upstream of SCARB2, and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country></list><tree><noCountry><name sortKey="Bereznai, Benjamin" sort="Bereznai, Benjamin" uniqKey="Bereznai B" first="Benjamin" last="Bereznai">Benjamin Bereznai</name><name sortKey="Brucke, Thomas" sort="Brucke, Thomas" uniqKey="Brucke T" first="Thomas" last="Brücke">Thomas Brücke</name><name sortKey="Gieger, Christian" sort="Gieger, Christian" uniqKey="Gieger C" first="Christian" last="Gieger">Christian Gieger</name><name sortKey="Haubenberger, Dietrich" sort="Haubenberger, Dietrich" uniqKey="Haubenberger D" first="Dietrich" last="Haubenberger">Dietrich Haubenberger</name><name sortKey="Knauf, Franziska" sort="Knauf, Franziska" uniqKey="Knauf F" first="Franziska" last="Knauf">Franziska Knauf</name><name sortKey="Kuhlenb Umer, Gregor" sort="Kuhlenb Umer, Gregor" uniqKey="Kuhlenb Umer G" first="Gregor" last="Kuhlenb Umer">Gregor Kuhlenb Umer</name><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><name sortKey="Mollenhauer, Brit" sort="Mollenhauer, Brit" uniqKey="Mollenhauer B" first="Brit" last="Mollenhauer">Brit Mollenhauer</name><name sortKey="Peters, Annette" sort="Peters, Annette" uniqKey="Peters A" first="Annette" last="Peters">Annette Peters</name><name sortKey="Pirker, Walter" sort="Pirker, Walter" uniqKey="Pirker W" first="Walter" last="Pirker">Walter Pirker</name><name sortKey="Schulte, Eva C" sort="Schulte, Eva C" uniqKey="Schulte E" first="Eva C" last="Schulte">Eva C. Schulte</name><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></noCountry><country name="Allemagne"><noRegion><name sortKey="Hopfner, Franziska" sort="Hopfner, Franziska" uniqKey="Hopfner F" first="Franziska" last="Hopfner">Franziska Hopfner</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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