ParkinsonFranceV1, Main, Merge, bibRecord, 003726

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

Identifieur interne : 003726 ( Main/Merge ); précédent : 003725; suivant : 003727

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

Auteurs : Vincenzo Bonifati [Pays-Bas, Italie] ; Patrizia Rizzu [Pays-Bas] ; Marijke J. Van Baren [Pays-Bas] ; Onno Schaap [Pays-Bas] ; Guido J. Breedveld [Pays-Bas] ; Elmar Krieger [Pays-Bas] ; Marieke C. J. Dekker [Pays-Bas] ; Ferdinando Squitieri [Italie] ; Pablo Ibanez [France] ; Marijke Joosse [Pays-Bas] ; Jeroen W. Van Dongen [Pays-Bas] ; Nicola Vanacore [Italie] ; John C. Van Swieten [Pays-Bas] ; Alexis Brice [France] ; Giuseppe Meco [Italie] ; Cornelia M. Van Duijn [Pays-Bas] ; Ben A. Oostra [Pays-Bas] ; Peter Heutink [Pays-Bas]

Source :

Science : (Washington, D.C.) [ 0036-8075 ] ; 2003.

RBID : Pascal:03-0228968

Descripteurs français

Pascal (Inist)
- Parkinson maladie, Parkinsonisme, Mutation, Gène, Caractère autosomique, Caractère récessif, Age apparition, Précoce, Etude familiale, Homme, Gène DJ 1.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Age of onset, Autosomal character, Early, Family study, Gene, Human, Mutation, Parkinson disease, Parkinsonism, Recessive character.

Abstract

The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism. The function of the DJ-1 protein remains unknown, but evidence suggests its involvement in the oxidative stress response. Our findings indicate that loss of DJ-1 function leads to neurodegeneration. Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease.

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 000F57
to stream PascalFrancis, to step Curation: 000477
to stream PascalFrancis, to step Checkpoint: 000D63

Links to Exploration step

Pascal:03-0228968

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism</title>
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<country>Pays-Bas</country>
<wicri:noRegion>3000 DR Rotterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Breedveld, Guido J" sort="Breedveld, Guido J" uniqKey="Breedveld G" first="Guido J." last="Breedveld">Guido J. Breedveld</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738</s1>
<s2>3000 DR Rotterdam</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
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<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>3000 DR Rotterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Krieger, Elmar" sort="Krieger, Elmar" uniqKey="Krieger E" first="Elmar" last="Krieger">Elmar Krieger</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Centre for Molecular and Biomolecular Informatics, University Medical Center Nijmegen, Geert Grooteplein Zuid 30</s1>
<s2>6525 GA Nijmegen</s2>
<s3>NLD</s3>
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<country>Pays-Bas</country>
<wicri:noRegion>6525 GA Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dekker, Marieke C J" sort="Dekker, Marieke C J" uniqKey="Dekker M" first="Marieke C. J." last="Dekker">Marieke C. J. Dekker</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738</s1>
<s2>3000 DR Rotterdam</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
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<country>Pays-Bas</country>
<wicri:noRegion>3000 DR Rotterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Squitieri, Ferdinando" sort="Squitieri, Ferdinando" uniqKey="Squitieri F" first="Ferdinando" last="Squitieri">Ferdinando Squitieri</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Neurogenetics Unit, IRCCS INM Neuromed, Locality Camerelle</s1>
<s2>86077 Pozzilli</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>86077 Pozzilli</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ibanez, Pablo" sort="Ibanez, Pablo" uniqKey="Ibanez P" first="Pablo" last="Ibanez">Pablo Ibanez</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>INSERM U 289, Hôpital de la Salpêtrière, 47 Boulevard de l'Hôpital</s1>
<s2>75013 Paris</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Joosse, Marijke" sort="Joosse, Marijke" uniqKey="Joosse M" first="Marijke" last="Joosse">Marijke Joosse</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738</s1>
<s2>3000 DR Rotterdam</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
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<sZ>3 aut.</sZ>
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<country>Pays-Bas</country>
<wicri:noRegion>3000 DR Rotterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Dongen, Jeroen W" sort="Van Dongen, Jeroen W" uniqKey="Van Dongen J" first="Jeroen W." last="Van Dongen">Jeroen W. Van Dongen</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738</s1>
<s2>3000 DR Rotterdam</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<country>Pays-Bas</country>
<wicri:noRegion>3000 DR Rotterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vanacore, Nicola" sort="Vanacore, Nicola" uniqKey="Vanacore N" first="Nicola" last="Vanacore">Nicola Vanacore</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurological Sciences, "La Sapienza" University, Viale dell'Università 30</s1>
<s2>00185 Rome</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>12 aut.</sZ>
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<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Laboratory of Epidemiology and Biostatistics, National Institute for Health</s1>
<s2>00161 Roma</s2>
<s3>ITA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Van Swieten, John C" sort="Van Swieten, John C" uniqKey="Van Swieten J" first="John C." last="Van Swieten">John C. Van Swieten</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, Erasmus Medical Center Rotterdam, Dr. Molewaterplein 40</s1>
<s2>3015 GD Rotterdam</s2>
<s3>NLD</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>3015 GD Rotterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>INSERM U 289, Hôpital de la Salpêtrière, 47 Boulevard de l'Hôpital</s1>
<s2>75013 Paris</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
<sZ>14 aut.</sZ>
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<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurological Sciences, "La Sapienza" University, Viale dell'Università 30</s1>
<s2>00185 Rome</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>12 aut.</sZ>
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<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Duijn, Cornelia M" sort="Van Duijn, Cornelia M" uniqKey="Van Duijn C" first="Cornelia M." last="Van Duijn">Cornelia M. Van Duijn</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738</s1>
<s2>3000 DR Rotterdam</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
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<sZ>17 aut.</sZ>
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<country>Pays-Bas</country>
<wicri:noRegion>3000 DR Rotterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. Oostra</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738</s1>
<s2>3000 DR Rotterdam</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>3000 DR Rotterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738</s1>
<s2>3000 DR Rotterdam</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>3000 DR Rotterdam</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Science : (Washington, D.C.)</title>
<title level="j" type="abbreviated">Science : (Wash. D.C.)</title>
<idno type="ISSN">0036-8075</idno>
<imprint><date when="2003">2003</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Science : (Washington, D.C.)</title>
<title level="j" type="abbreviated">Science : (Wash. D.C.)</title>
<idno type="ISSN">0036-8075</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of onset</term>
<term>Autosomal character</term>
<term>Early</term>
<term>Family study</term>
<term>Gene</term>
<term>Human</term>
<term>Mutation</term>
<term>Parkinson disease</term>
<term>Parkinsonism</term>
<term>Recessive character</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinson maladie</term>
<term>Parkinsonisme</term>
<term>Mutation</term>
<term>Gène</term>
<term>Caractère autosomique</term>
<term>Caractère récessif</term>
<term>Age apparition</term>
<term>Précoce</term>
<term>Etude familiale</term>
<term>Homme</term>
<term>Gène DJ 1</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism. The function of the DJ-1 protein remains unknown, but evidence suggests its involvement in the oxidative stress response. Our findings indicate that loss of DJ-1 function leads to neurodegeneration. Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease.</div>
</front>
</TEI>
<affiliations><list><country><li>France</li>
<li>Italie</li>
<li>Pays-Bas</li>
</country>
<region><li>Latium</li>
<li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
<li>Rome</li>
</settlement>
</list>
<tree><country name="Pays-Bas"><noRegion><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
</noRegion>
<name sortKey="Breedveld, Guido J" sort="Breedveld, Guido J" uniqKey="Breedveld G" first="Guido J." last="Breedveld">Guido J. Breedveld</name>
<name sortKey="Dekker, Marieke C J" sort="Dekker, Marieke C J" uniqKey="Dekker M" first="Marieke C. J." last="Dekker">Marieke C. J. Dekker</name>
<name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
<name sortKey="Joosse, Marijke" sort="Joosse, Marijke" uniqKey="Joosse M" first="Marijke" last="Joosse">Marijke Joosse</name>
<name sortKey="Krieger, Elmar" sort="Krieger, Elmar" uniqKey="Krieger E" first="Elmar" last="Krieger">Elmar Krieger</name>
<name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. Oostra</name>
<name sortKey="Rizzu, Patrizia" sort="Rizzu, Patrizia" uniqKey="Rizzu P" first="Patrizia" last="Rizzu">Patrizia Rizzu</name>
<name sortKey="Schaap, Onno" sort="Schaap, Onno" uniqKey="Schaap O" first="Onno" last="Schaap">Onno Schaap</name>
<name sortKey="Van Baren, Marijke J" sort="Van Baren, Marijke J" uniqKey="Van Baren M" first="Marijke J." last="Van Baren">Marijke J. Van Baren</name>
<name sortKey="Van Dongen, Jeroen W" sort="Van Dongen, Jeroen W" uniqKey="Van Dongen J" first="Jeroen W." last="Van Dongen">Jeroen W. Van Dongen</name>
<name sortKey="Van Duijn, Cornelia M" sort="Van Duijn, Cornelia M" uniqKey="Van Duijn C" first="Cornelia M." last="Van Duijn">Cornelia M. Van Duijn</name>
<name sortKey="Van Swieten, John C" sort="Van Swieten, John C" uniqKey="Van Swieten J" first="John C." last="Van Swieten">John C. Van Swieten</name>
</country>
<country name="Italie"><region name="Latium"><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
</region>
<name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name>
<name sortKey="Squitieri, Ferdinando" sort="Squitieri, Ferdinando" uniqKey="Squitieri F" first="Ferdinando" last="Squitieri">Ferdinando Squitieri</name>
<name sortKey="Vanacore, Nicola" sort="Vanacore, Nicola" uniqKey="Vanacore N" first="Nicola" last="Vanacore">Nicola Vanacore</name>
<name sortKey="Vanacore, Nicola" sort="Vanacore, Nicola" uniqKey="Vanacore N" first="Nicola" last="Vanacore">Nicola Vanacore</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Ibanez, Pablo" sort="Ibanez, Pablo" uniqKey="Ibanez P" first="Pablo" last="Ibanez">Pablo Ibanez</name>
</region>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
</country>
</tree>
</affiliations>
</record>

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	La maladie de Parkinson en France (serveur d'exploration)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

La maladie de Parkinson en France (serveur d'exploration)

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

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