Emerging Common Molecular Pathways for Primary Dystonia
Identifieur interne : 000347 ( Pmc/Curation ); précédent : 000346; suivant : 000348Emerging Common Molecular Pathways for Primary Dystonia
Auteurs : Mark S. Ledoux [États-Unis] ; William T. Dauer [États-Unis] ; Thomas T. Warner [Royaume-Uni]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2013.
Abstract
The dystonias are a group of hyperkinetic movement disorders whose principal cause is neuron dysfunction at one or more interconnected nodes of the motor system. The study of genes and proteins which cause familial dystonia provides critical information about the cellular pathways involved in this dysfunction which disrupts the motor pathways at systems level. In recent years study of the increasing number of
Review of literature published in English language publications available on Pubmed relating to the genetics and cellular pathology of dystonia
Numerous potential pathogenetic mechanisms have been identified. We describe those which fall into three emerging thematic groups: cell cycle and transcriptional regulation in the nucleus, endoplasmic reticulum and nuclear envelope function, and control of synaptic function.
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DOI: 10.1002/mds.25547
PubMed: 23893453
PubMed Central: 3838975
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Dauer</name><affiliation wicri:level="1"><nlm:aff id="A2">Department of Neurology and Cell & Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Cell & Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan 48109</wicri:regionArea></affiliation></author><author><name sortKey="Warner, Thomas T" sort="Warner, Thomas T" uniqKey="Warner T" first="Thomas T" last="Warner">Thomas T. Warner</name><affiliation wicri:level="1"><nlm:aff id="A3">Reta Lila Weston Institute for Neurological Research, UCL Institute of Neurology, London WC1N 1PJ, U.K</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute for Neurological Research, UCL Institute of Neurology, London WC1N 1PJ</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23893453</idno><idno type="pmc">3838975</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3838975</idno><idno type="RBID">PMC:3838975</idno><idno type="doi">10.1002/mds.25547</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">000347</idno><idno type="wicri:Area/Pmc/Curation">000347</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Emerging Common Molecular Pathways for Primary Dystonia</title><author><name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S" last="Ledoux">Mark S. Ledoux</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neurology, University of Tennessee Health Science Center Memphis, Tennessee 38163, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Tennessee Health Science Center Memphis, Tennessee 38163</wicri:regionArea></affiliation></author><author><name sortKey="Dauer, William T" sort="Dauer, William T" uniqKey="Dauer W" first="William T" last="Dauer">William T. Dauer</name><affiliation wicri:level="1"><nlm:aff id="A2">Department of Neurology and Cell & Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Cell & Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan 48109</wicri:regionArea></affiliation></author><author><name sortKey="Warner, Thomas T" sort="Warner, Thomas T" uniqKey="Warner T" first="Thomas T" last="Warner">Thomas T. Warner</name><affiliation wicri:level="1"><nlm:aff id="A3">Reta Lila Weston Institute for Neurological Research, UCL Institute of Neurology, London WC1N 1PJ, U.K</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute for Neurological Research, UCL Institute of Neurology, London WC1N 1PJ</wicri:regionArea></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title><p id="P1">The dystonias are a group of hyperkinetic movement disorders whose principal cause is neuron dysfunction at one or more interconnected nodes of the motor system. The study of genes and proteins which cause familial dystonia provides critical information about the cellular pathways involved in this dysfunction which disrupts the motor pathways at systems level. In recent years study of the increasing number of <italic>DYT</italic> genes has implicated a number of cell functions which appear to be involved in the pathogenesis of dystonia.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Review of literature published in English language publications available on Pubmed relating to the genetics and cellular pathology of dystonia</p></sec><sec id="S3"><title>Results and Conclusions</title><p id="P3">Numerous potential pathogenetic mechanisms have been identified. We describe those which fall into three emerging thematic groups: cell cycle and transcriptional regulation in the nucleus, endoplasmic reticulum and nuclear envelope function, and control of synaptic function.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
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<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8610688</journal-id><journal-id journal-id-type="pubmed-jr-id">5937</journal-id><journal-id journal-id-type="nlm-ta">Mov Disord</journal-id><journal-id journal-id-type="iso-abbrev">Mov. Disord.</journal-id><journal-title-group><journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title></journal-title-group><issn pub-type="ppub">0885-3185</issn><issn pub-type="epub">1531-8257</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23893453</article-id><article-id pub-id-type="pmc">3838975</article-id><article-id pub-id-type="doi">10.1002/mds.25547</article-id><article-id pub-id-type="manuscript">NIHMS513938</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Emerging Common Molecular Pathways for Primary Dystonia</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>LeDoux</surname><given-names>Mark S</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Dauer</surname><given-names>William T</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Warner</surname><given-names>Thomas T</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Neurology, University of Tennessee Health Science Center Memphis, Tennessee 38163, USA</aff><aff id="A2"><label>2</label>Department of Neurology and Cell & Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA</aff><aff id="A3"><label>3</label>Reta Lila Weston Institute for Neurological Research, UCL Institute of Neurology, London WC1N 1PJ, U.K</aff><author-notes><corresp id="FN1">Correspondence to: Professor TT Warner, Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, 1 Wakefield Street, London WC1N 1PJ, United Kingdom, Tel +44 207 679 4246, Fax+44 207 278 4953, <email>t.warner@ucl.ac.uk</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>17</day><month>10</month><year>2013</year></pub-date><pub-date pub-type="ppub"><day>15</day><month>6</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>15</day><month>6</month><year>2014</year></pub-date><volume>28</volume><issue>7</issue><elocation-id>10.1002/mds.25547</elocation-id><abstract><sec id="S1"><title>Background</title><p id="P1">The dystonias are a group of hyperkinetic movement disorders whose principal cause is neuron dysfunction at one or more interconnected nodes of the motor system. The study of genes and proteins which cause familial dystonia provides critical information about the cellular pathways involved in this dysfunction which disrupts the motor pathways at systems level. In recent years study of the increasing number of <italic>DYT</italic> genes has implicated a number of cell functions which appear to be involved in the pathogenesis of dystonia.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Review of literature published in English language publications available on Pubmed relating to the genetics and cellular pathology of dystonia</p></sec><sec id="S3"><title>Results and Conclusions</title><p id="P3">Numerous potential pathogenetic mechanisms have been identified. We describe those which fall into three emerging thematic groups: cell cycle and transcriptional regulation in the nucleus, endoplasmic reticulum and nuclear envelope function, and control of synaptic function.</p></sec></abstract><kwd-group><kwd><italic>DYT</italic> genes</kwd><kwd>Cell cycle</kwd><kwd>endoplasmic reticulum</kwd><kwd>Nuclear envelope</kwd><kwd>synaptic function</kwd></kwd-group><funding-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source><award-id>R01 NS082296 || NS</award-id></award-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source><award-id>R01 NS069936 || NS</award-id></award-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source><award-id>R01 NS048458 || NS</award-id></award-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source><award-id>P50 NS038370 || NS</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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