Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.
Identifieur interne : 000D72 ( Main/Exploration ); précédent : 000D71; suivant : 000D73Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.
Auteurs : Jessie Theuns [Belgique] ; David Crosiers ; Luc Debaene ; Karen Nuytemans ; Bram Meeus ; Kristel Sleegers ; Dirk Goossens ; Ellen Corsmit ; Ellen Elinck ; Karin Peeters ; Maria Mattheijssens ; Barbara Pickut ; Jurgen Del-Favero ; Sebastiaan Engelborghs ; Peter Paul De Deyn ; Patrick Cras ; Christine Van BroeckhovenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
Descripteurs français
- Wicri :
- geographic : Belgique.
English descriptors
- KwdEn :
- Adult, Belgium, Chromosome Mapping, Dopamine Agents (therapeutic use), Dystonia (drug therapy), Dystonia (etiology), Dystonia (genetics), Family Health, Female, GTP Cyclohydrolase (genetics), Genetic Linkage, Genome-Wide Association Study, Humans, Levodopa (therapeutic use), Male, Middle Aged, Promoter Regions, Genetic (genetics), Sequence Deletion (genetics), Young Adult.
- MESH :
- chemical , genetics : GTP Cyclohydrolase.
- chemical , therapeutic use : Dopamine Agents, Levodopa.
- geographic : Belgium.
- drug therapy : Dystonia.
- etiology : Dystonia.
- genetics : Dystonia, Promoter Regions, Genetic, Sequence Deletion.
- Adult, Chromosome Mapping, Family Health, Female, Genetic Linkage, Genome-Wide Association Study, Humans, Male, Middle Aged, Young Adult.
Abstract
Autosomal dominant dopa-responsive dystonia (AD-DRD) is caused by a biochemical defect primarily resulting from guanosine triphosphate cyclohydrolase 1 gene (GCH1) mutations. Few families have been reported without mutations in GCH1.
DOI: 10.1002/mds.25147
PubMed: 22976901
Affiliations:
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Le document en format XML
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last="Crosiers">David Crosiers</name></author><author><name sortKey="Debaene, Luc" sort="Debaene, Luc" uniqKey="Debaene L" first="Luc" last="Debaene">Luc Debaene</name></author><author><name sortKey="Nuytemans, Karen" sort="Nuytemans, Karen" uniqKey="Nuytemans K" first="Karen" last="Nuytemans">Karen Nuytemans</name></author><author><name sortKey="Meeus, Bram" sort="Meeus, Bram" uniqKey="Meeus B" first="Bram" last="Meeus">Bram Meeus</name></author><author><name sortKey="Sleegers, Kristel" sort="Sleegers, Kristel" uniqKey="Sleegers K" first="Kristel" last="Sleegers">Kristel Sleegers</name></author><author><name sortKey="Goossens, Dirk" sort="Goossens, Dirk" uniqKey="Goossens D" first="Dirk" last="Goossens">Dirk Goossens</name></author><author><name sortKey="Corsmit, Ellen" sort="Corsmit, Ellen" uniqKey="Corsmit E" first="Ellen" last="Corsmit">Ellen Corsmit</name></author><author><name sortKey="Elinck, Ellen" sort="Elinck, Ellen" uniqKey="Elinck E" first="Ellen" last="Elinck">Ellen 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type="wicri:Area/Main/Exploration">000D72</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.</title><author><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name><affiliation wicri:level="4"><nlm:affiliation>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium. jessie.theuns@molgen.vib-ua.be</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp</wicri:regionArea><orgName type="university">Université d'Anvers</orgName><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName></affiliation></author><author><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name></author><author><name sortKey="Debaene, Luc" sort="Debaene, Luc" uniqKey="Debaene L" first="Luc" last="Debaene">Luc Debaene</name></author><author><name sortKey="Nuytemans, Karen" sort="Nuytemans, Karen" uniqKey="Nuytemans K" first="Karen" last="Nuytemans">Karen Nuytemans</name></author><author><name sortKey="Meeus, Bram" sort="Meeus, Bram" uniqKey="Meeus B" first="Bram" last="Meeus">Bram Meeus</name></author><author><name sortKey="Sleegers, Kristel" sort="Sleegers, Kristel" uniqKey="Sleegers K" first="Kristel" last="Sleegers">Kristel Sleegers</name></author><author><name sortKey="Goossens, Dirk" sort="Goossens, Dirk" uniqKey="Goossens D" first="Dirk" last="Goossens">Dirk Goossens</name></author><author><name sortKey="Corsmit, Ellen" sort="Corsmit, Ellen" uniqKey="Corsmit E" first="Ellen" last="Corsmit">Ellen Corsmit</name></author><author><name sortKey="Elinck, Ellen" sort="Elinck, Ellen" uniqKey="Elinck E" first="Ellen" last="Elinck">Ellen Elinck</name></author><author><name sortKey="Peeters, Karin" sort="Peeters, Karin" uniqKey="Peeters K" first="Karin" last="Peeters">Karin Peeters</name></author><author><name sortKey="Mattheijssens, Maria" sort="Mattheijssens, Maria" uniqKey="Mattheijssens M" first="Maria" last="Mattheijssens">Maria Mattheijssens</name></author><author><name sortKey="Pickut, Barbara" sort="Pickut, Barbara" uniqKey="Pickut B" first="Barbara" last="Pickut">Barbara Pickut</name></author><author><name sortKey="Del Favero, Jurgen" sort="Del Favero, Jurgen" uniqKey="Del Favero J" first="Jurgen" last="Del-Favero">Jurgen Del-Favero</name></author><author><name sortKey="Engelborghs, Sebastiaan" sort="Engelborghs, Sebastiaan" uniqKey="Engelborghs S" first="Sebastiaan" last="Engelborghs">Sebastiaan Engelborghs</name></author><author><name sortKey="De Deyn, Peter Paul" sort="De Deyn, Peter Paul" uniqKey="De Deyn P" first="Peter Paul" last="De Deyn">Peter Paul De Deyn</name></author><author><name sortKey="Cras, Patrick" sort="Cras, Patrick" uniqKey="Cras P" first="Patrick" last="Cras">Patrick Cras</name></author><author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</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="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Belgium</term><term>Chromosome Mapping</term><term>Dopamine Agents (therapeutic use)</term><term>Dystonia (drug therapy)</term><term>Dystonia (etiology)</term><term>Dystonia (genetics)</term><term>Family Health</term><term>Female</term><term>GTP Cyclohydrolase (genetics)</term><term>Genetic Linkage</term><term>Genome-Wide Association Study</term><term>Humans</term><term>Levodopa (therapeutic use)</term><term>Male</term><term>Middle Aged</term><term>Promoter Regions, Genetic (genetics)</term><term>Sequence Deletion (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GTP Cyclohydrolase</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Dopamine Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Belgium</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Promoter Regions, Genetic</term><term>Sequence Deletion</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Chromosome Mapping</term><term>Family Health</term><term>Female</term><term>Genetic Linkage</term><term>Genome-Wide Association Study</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Belgique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal dominant dopa-responsive dystonia (AD-DRD) is caused by a biochemical defect primarily resulting from guanosine triphosphate cyclohydrolase 1 gene (GCH1) mutations. Few families have been reported without mutations in GCH1.</div></front></TEI><affiliations><list><country><li>Belgique</li></country><region><li>Province d'Anvers</li></region><settlement><li>Anvers</li></settlement><orgName><li>Université d'Anvers</li></orgName></list><tree><noCountry><name sortKey="Corsmit, Ellen" sort="Corsmit, Ellen" uniqKey="Corsmit E" first="Ellen" last="Corsmit">Ellen Corsmit</name><name sortKey="Cras, Patrick" sort="Cras, Patrick" uniqKey="Cras P" first="Patrick" last="Cras">Patrick Cras</name><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name><name sortKey="De Deyn, Peter Paul" sort="De Deyn, Peter Paul" uniqKey="De Deyn P" first="Peter Paul" last="De Deyn">Peter Paul De Deyn</name><name sortKey="Debaene, Luc" sort="Debaene, Luc" uniqKey="Debaene L" first="Luc" last="Debaene">Luc Debaene</name><name sortKey="Del Favero, Jurgen" sort="Del Favero, Jurgen" uniqKey="Del Favero J" first="Jurgen" last="Del-Favero">Jurgen Del-Favero</name><name sortKey="Elinck, Ellen" sort="Elinck, Ellen" uniqKey="Elinck E" first="Ellen" last="Elinck">Ellen Elinck</name><name sortKey="Engelborghs, Sebastiaan" sort="Engelborghs, Sebastiaan" uniqKey="Engelborghs S" first="Sebastiaan" last="Engelborghs">Sebastiaan Engelborghs</name><name sortKey="Goossens, Dirk" sort="Goossens, Dirk" uniqKey="Goossens D" first="Dirk" last="Goossens">Dirk Goossens</name><name sortKey="Mattheijssens, Maria" sort="Mattheijssens, Maria" uniqKey="Mattheijssens M" first="Maria" last="Mattheijssens">Maria Mattheijssens</name><name sortKey="Meeus, Bram" sort="Meeus, Bram" uniqKey="Meeus B" first="Bram" last="Meeus">Bram Meeus</name><name sortKey="Nuytemans, Karen" sort="Nuytemans, Karen" uniqKey="Nuytemans K" first="Karen" last="Nuytemans">Karen Nuytemans</name><name sortKey="Peeters, Karin" sort="Peeters, Karin" uniqKey="Peeters K" first="Karin" last="Peeters">Karin Peeters</name><name sortKey="Pickut, Barbara" sort="Pickut, Barbara" uniqKey="Pickut B" first="Barbara" last="Pickut">Barbara Pickut</name><name sortKey="Sleegers, Kristel" sort="Sleegers, Kristel" uniqKey="Sleegers K" first="Kristel" last="Sleegers">Kristel Sleegers</name><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name></noCountry><country name="Belgique"><region name="Province d'Anvers"><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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