Glucocerebrosidase activity in Parkinson’s disease with and without GBA mutations
Identifieur interne : 000710 ( Main/Exploration ); précédent : 000709; suivant : 000711Glucocerebrosidase activity in Parkinson’s disease with and without GBA mutations
Auteurs : Roy N. Alcalay [États-Unis] ; Oren A. Levy [États-Unis] ; Cheryl C. Waters [États-Unis] ; Stanley Fahn [États-Unis] ; Blair Ford [États-Unis] ; Sheng-Han Kuo [États-Unis] ; Pietro Mazzoni [États-Unis] ; Michael W. Pauciulo [États-Unis] ; William C. Nichols [États-Unis] ; Ziv Gan-Or [Canada] ; Guy A. Rouleau [Canada] ; Wendy K. Chung [États-Unis] ; Pavlina Wolf [États-Unis] ; Petra Oliva [États-Unis] ; Joan Keutzer [États-Unis] ; Karen Marder [États-Unis] ; Xiaokui Zhang [États-Unis]Source :
- Brain [ 0006-8950 ] ; 2015.
English descriptors
- KwdEn :
- Aged, Cohort Studies, Female, Gene Expression Regulation, Enzymologic (genetics), Genotype, Glucosylceramidase (genetics), Glucosylceramidase (metabolism), Humans, Jews (genetics), Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation (genetics), Parkinson Disease (enzymology), Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics), Severity of Illness Index.
- MESH :
- chemical , genetics : Glucosylceramidase, Protein-Serine-Threonine Kinases.
- enzymology : Parkinson Disease.
- genetics : Gene Expression Regulation, Enzymologic, Jews, Mutation, Parkinson Disease.
- chemical , metabolism : Glucosylceramidase.
- Aged, Cohort Studies, Female, Genotype, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Severity of Illness Index.
Abstract
Glucocerebrosidase (
Url:
DOI: 10.1093/brain/awv179
PubMed: 26117366
PubMed Central: 4564023
Affiliations:
- Canada, États-Unis
- Québec, État de New York
- Montréal, New York
- Université Columbia, Université McGill
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Le document en format XML
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Pauciulo</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF3">3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH</wicri:regionArea><wicri:noRegion>OH</wicri:noRegion></affiliation></author><author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. 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Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>7 Gertrude H. 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Alcalay</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv179-AFF2">2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Levy, Oren A" sort="Levy, Oren A" uniqKey="Levy O" first="Oren A." last="Levy">Oren A. Levy</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv179-AFF2">2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Waters, Cheryl C" sort="Waters, Cheryl C" uniqKey="Waters C" first="Cheryl C." last="Waters">Cheryl C. Waters</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Kuo, Sheng Han" sort="Kuo, Sheng Han" uniqKey="Kuo S" first="Sheng-Han" last="Kuo">Sheng-Han Kuo</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Mazzoni, Pietro" sort="Mazzoni, Pietro" uniqKey="Mazzoni P" first="Pietro" last="Mazzoni">Pietro Mazzoni</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF3">3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH</wicri:regionArea><wicri:noRegion>OH</wicri:noRegion></affiliation></author><author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF3">3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine, Cincinnati, OH</wicri:regionArea><wicri:noRegion>OH</wicri:noRegion></affiliation></author><author><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name><affiliation wicri:level="4"><nlm:aff id="awv179-AFF4">4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name><affiliation wicri:level="4"><nlm:aff id="awv179-AFF4">4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>4 Montréal Neurological Institute and Hospital, McGill University, Montreal, QC</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Chung, Wendy K" sort="Chung, Wendy K" uniqKey="Chung W" first="Wendy K." last="Chung">Wendy K. Chung</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF5">5 Department of Pediatrics and Medicine, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>5 Department of Pediatrics and Medicine, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation></author><author><name sortKey="Wolf, Pavlina" sort="Wolf, Pavlina" uniqKey="Wolf P" first="Pavlina" last="Wolf">Pavlina Wolf</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF6">6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author><author><name sortKey="Oliva, Petra" sort="Oliva, Petra" uniqKey="Oliva P" first="Petra" last="Oliva">Petra Oliva</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF6">6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author><author><name sortKey="Keutzer, Joan" sort="Keutzer, Joan" uniqKey="Keutzer J" first="Joan" last="Keutzer">Joan Keutzer</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF6">6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF1">1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>1 Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awv179-AFF2">2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>2 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea><wicri:noRegion>NY</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="awv179-AFF7">7 Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>7 Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY</wicri:regionArea><orgName type="university">Université Columbia</orgName><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Zhang, Xiaokui" sort="Zhang, Xiaokui" uniqKey="Zhang X" first="Xiaokui" last="Zhang">Xiaokui Zhang</name><affiliation wicri:level="1"><nlm:aff id="awv179-AFF6">6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>6 Global BioTherapeutics, Genzyme, a Sanofi company, Framingham, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author></analytic><series><title level="j">Brain</title><idno type="ISSN">0006-8950</idno><idno type="eISSN">1460-2156</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Cohort Studies</term><term>Female</term><term>Gene Expression Regulation, Enzymologic (genetics)</term><term>Genotype</term><term>Glucosylceramidase (genetics)</term><term>Glucosylceramidase (metabolism)</term><term>Humans</term><term>Jews (genetics)</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (enzymology)</term><term>Parkinson Disease (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Severity of Illness Index</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gene Expression Regulation, Enzymologic</term><term>Jews</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Glucosylceramidase</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Cohort Studies</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Severity of Illness Index</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Glucocerebrosidase (<italic>GBA</italic>) mutations are common risk factors for Parkinson’s disease. Alcalay <italic>et al.</italic> measure glucocerebrosidase enzymatic activity in dried blood spots from patients with Parkinson’s disease with and without <italic>GBA</italic> mutations, and controls. Low glucocerebrosidase enzymatic activity is strongly associated with <italic>GBA</italic> mutations, and modestly associated with idiopathic Parkinson’s disease.</p></div></front></TEI><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Québec</li><li>État de New York</li></region><settlement><li>Montréal</li><li>New York</li></settlement><orgName><li>Université Columbia</li><li>Université McGill</li></orgName></list><tree><country name="États-Unis"><noRegion><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N." last="Alcalay">Roy N. Alcalay</name></noRegion><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N." last="Alcalay">Roy N. Alcalay</name><name sortKey="Chung, Wendy K" sort="Chung, Wendy K" uniqKey="Chung W" first="Wendy K." last="Chung">Wendy K. Chung</name><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><name sortKey="Keutzer, Joan" sort="Keutzer, Joan" uniqKey="Keutzer J" first="Joan" last="Keutzer">Joan Keutzer</name><name sortKey="Kuo, Sheng Han" sort="Kuo, Sheng Han" uniqKey="Kuo S" first="Sheng-Han" last="Kuo">Sheng-Han Kuo</name><name sortKey="Levy, Oren A" sort="Levy, Oren A" uniqKey="Levy O" first="Oren A." last="Levy">Oren A. Levy</name><name sortKey="Levy, Oren A" sort="Levy, Oren A" uniqKey="Levy O" first="Oren A." last="Levy">Oren A. Levy</name><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><name sortKey="Mazzoni, Pietro" sort="Mazzoni, Pietro" uniqKey="Mazzoni P" first="Pietro" last="Mazzoni">Pietro Mazzoni</name><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name><name sortKey="Oliva, Petra" sort="Oliva, Petra" uniqKey="Oliva P" first="Petra" last="Oliva">Petra Oliva</name><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name><name sortKey="Waters, Cheryl C" sort="Waters, Cheryl C" uniqKey="Waters C" first="Cheryl C." last="Waters">Cheryl C. Waters</name><name sortKey="Wolf, Pavlina" sort="Wolf, Pavlina" uniqKey="Wolf P" first="Pavlina" last="Wolf">Pavlina Wolf</name><name sortKey="Zhang, Xiaokui" sort="Zhang, Xiaokui" uniqKey="Zhang X" first="Xiaokui" last="Zhang">Xiaokui Zhang</name></country><country name="Canada"><region name="Québec"><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name></region><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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