Analysis of the glucocerebrosidase gene in Parkinson's disease
Identifieur interne : 002A83 ( Main/Exploration ); précédent : 002A82; suivant : 002A84Analysis of the glucocerebrosidase gene in Parkinson's disease
Auteurs : Christine Sato [Canada] ; Angharad Morgan [Canada] ; Anthony E. Lang [Canada] ; Shabnam Salehi-Rad [Canada] ; Toshitaka Kawarai [Canada] ; Yan Meng [États-Unis] ; Peter N. Ray [Canada] ; Lindsay A. Farrer [États-Unis] ; Peter St George-Hyslop [Canada] ; Ekaterina Rogaeva [Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-03.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Alleles, DNA Mutational Analysis, DNA Primers (genetics), Female, Gaucher's disease, Genetic Predisposition to Disease, Glucosylceramidase (genetics), Humans, Male, Middle Aged, Parkinson Disease (genetics), Parkinson's disease, Point Mutation (genetics), glucocerebrosidase, risk factors.
- MESH :
- chemical , genetics : DNA Primers, Glucosylceramidase.
- genetics : Parkinson Disease, Point Mutation.
- Adolescent, Adult, Aged, Alleles, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged.
Abstract
Parkinson's disease (PD) is a common progressive neurodegenerative disorder characterized clinically by a combination of motor symptoms. Identifying novel PD genetic risk factors is important for understanding its pathogenesis. A recent study suggested that up to 21% of subjects with PD may have mutations in the glucocerebrosidase (GBA) gene. We investigated the GBA gene for mutations in 88 PD cases and 122 normal controls and detected the presence of heterozygous GBA mutations in 5 PD cases and in 1 control. Sequencing of the entire open reading frame of the GBA gene in a subset of 25 cases with early‐onset PD (<50 years of age) uncovered no additional mutations. Our results demonstrate a marginally significant association of GBA mutations with PD and suggest that variations in the GBA gene may constitute a rare susceptibility factor for PD (P = 0.048). © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20319
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 000576
- to stream Istex, to step Curation: 000576
- to stream Istex, to step Checkpoint: 000D11
- to stream PubMed, to step Corpus: 001281
- to stream PubMed, to step Curation: 001281
- to stream PubMed, to step Checkpoint: 001281
- to stream Ncbi, to step Merge: 000471
- to stream Ncbi, to step Curation: 000471
- to stream Ncbi, to step Checkpoint: 000471
- to stream Main, to step Merge: 002E15
- to stream Main, to step Curation: 002A83
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Analysis of the glucocerebrosidase gene in Parkinson's disease</title><author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name></author><author><name sortKey="Morgan, Angharad" sort="Morgan, Angharad" uniqKey="Morgan A" first="Angharad" last="Morgan">Angharad Morgan</name></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name></author><author><name sortKey="Salehi Ad, Shabnam" sort="Salehi Ad, Shabnam" uniqKey="Salehi Ad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name></author><author><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name></author><author><name sortKey="Meng, Yan" sort="Meng, Yan" uniqKey="Meng Y" first="Yan" last="Meng">Yan Meng</name></author><author><name sortKey="Ray, Peter N" sort="Ray, Peter N" uniqKey="Ray P" first="Peter N." last="Ray">Peter N. Ray</name></author><author><name sortKey="Farrer, Lindsay A" sort="Farrer, Lindsay A" uniqKey="Farrer L" first="Lindsay A." last="Farrer">Lindsay A. Farrer</name></author><author><name sortKey="St George Yslop, Peter" sort="St George Yslop, Peter" uniqKey="St George Yslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:93A5B4218AF66551F5F4B2FE12849BC3C8597C26</idno><date when="2005" year="2005">2005</date><idno type="doi">10.1002/mds.20319</idno><idno type="url">https://api-v5.istex.fr/document/93A5B4218AF66551F5F4B2FE12849BC3C8597C26/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000576</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000576</idno><idno type="wicri:Area/Istex/Curation">000576</idno><idno type="wicri:Area/Istex/Checkpoint">000D11</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">000D11</idno><idno type="wicri:doubleKey">0885-3185:2005:Sato C:analysis:of:the</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:15517592</idno><idno type="wicri:Area/PubMed/Corpus">001281</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001281</idno><idno type="wicri:Area/PubMed/Curation">001281</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001281</idno><idno type="wicri:Area/PubMed/Checkpoint">001281</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001281</idno><idno type="wicri:Area/Ncbi/Merge">000471</idno><idno type="wicri:Area/Ncbi/Curation">000471</idno><idno type="wicri:Area/Ncbi/Checkpoint">000471</idno><idno type="wicri:doubleKey">0885-3185:2005:Sato C:analysis:of:the</idno><idno type="wicri:Area/Main/Merge">002E15</idno><idno type="wicri:Area/Main/Curation">002A83</idno><idno type="wicri:Area/Main/Exploration">002A83</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Analysis of the glucocerebrosidase gene in Parkinson's disease</title><author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Morgan, Angharad" sort="Morgan, Angharad" uniqKey="Morgan A" first="Angharad" last="Morgan">Angharad Morgan</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Movement Disorders Centre, Toronto Western Hospital, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Salehi Ad, Shabnam" sort="Salehi Ad, Shabnam" uniqKey="Salehi Ad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Meng, Yan" sort="Meng, Yan" uniqKey="Meng Y" first="Yan" last="Meng">Yan Meng</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Boston University, School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Ray, Peter N" sort="Ray, Peter N" uniqKey="Ray P" first="Peter N." last="Ray">Peter N. Ray</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Departments of Genetics and Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Farrer, Lindsay A" sort="Farrer, Lindsay A" uniqKey="Farrer L" first="Lindsay A." last="Farrer">Lindsay A. Farrer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Boston University, School of Medicine, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="St George Yslop, Peter" sort="St George Yslop, Peter" uniqKey="St George Yslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, Division of Neurology, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Neurodegenerative Diseases, Department of Medicine, University of Toronto, 6 Queen's Park Crescent West, Toronto, Ontario M5S 3H2</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></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="2005-03">2005-03</date><biblScope unit="volume">20</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="367">367</biblScope><biblScope unit="page" to="370">370</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">93A5B4218AF66551F5F4B2FE12849BC3C8597C26</idno><idno type="DOI">10.1002/mds.20319</idno><idno type="ArticleID">MDS20319</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Alleles</term><term>DNA Mutational Analysis</term><term>DNA Primers (genetics)</term><term>Female</term><term>Gaucher's disease</term><term>Genetic Predisposition to Disease</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (genetics)</term><term>Parkinson's disease</term><term>Point Mutation (genetics)</term><term>glucocerebrosidase</term><term>risk factors</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term><term>Glucosylceramidase</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Point Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Alleles</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is a common progressive neurodegenerative disorder characterized clinically by a combination of motor symptoms. Identifying novel PD genetic risk factors is important for understanding its pathogenesis. A recent study suggested that up to 21% of subjects with PD may have mutations in the glucocerebrosidase (GBA) gene. We investigated the GBA gene for mutations in 88 PD cases and 122 normal controls and detected the presence of heterozygous GBA mutations in 5 PD cases and in 1 control. Sequencing of the entire open reading frame of the GBA gene in a subset of 25 cases with early‐onset PD (<50 years of age) uncovered no additional mutations. Our results demonstrate a marginally significant association of GBA mutations with PD and suggest that variations in the GBA gene may constitute a rare susceptibility factor for PD (P = 0.048). © 2004 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Massachusetts</li><li>Ontario</li></region><settlement><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><region name="Ontario"><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name></region><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><name sortKey="Morgan, Angharad" sort="Morgan, Angharad" uniqKey="Morgan A" first="Angharad" last="Morgan">Angharad Morgan</name><name sortKey="Ray, Peter N" sort="Ray, Peter N" uniqKey="Ray P" first="Peter N." last="Ray">Peter N. Ray</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Salehi Ad, Shabnam" sort="Salehi Ad, Shabnam" uniqKey="Salehi Ad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name><name sortKey="St George Yslop, Peter" sort="St George Yslop, Peter" uniqKey="St George Yslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name><name sortKey="St George Yslop, Peter" sort="St George Yslop, Peter" uniqKey="St George Yslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Meng, Yan" sort="Meng, Yan" uniqKey="Meng Y" first="Yan" last="Meng">Yan Meng</name></region><name sortKey="Farrer, Lindsay A" sort="Farrer, Lindsay A" uniqKey="Farrer L" first="Lindsay A." last="Farrer">Lindsay A. Farrer</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002A83 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002A83 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Canada
|area= ParkinsonCanadaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:93A5B4218AF66551F5F4B2FE12849BC3C8597C26
|texte= Analysis of the glucocerebrosidase gene in Parkinson's disease
}}
| This area was generated with Dilib version V0.6.29. |  |