Emerging Common Molecular Pathways for Primary Dystonia
Identifieur interne : 000A04 ( Main/Exploration ); précédent : 000A03; suivant : 000A05Emerging 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.
English descriptors
- KwdEn :
- Animals, Cell Cycle (genetics), Dystonic Disorders (genetics), Dystonic Disorders (pathology), Endoplasmic Reticulum (genetics), Endoplasmic Reticulum (metabolism), Humans, Molecular Chaperones (classification), Molecular Chaperones (genetics), Molecular Chaperones (metabolism), Neurons (metabolism), Neurons (pathology), Nuclear Proteins (genetics), Nuclear Proteins (metabolism), PubMed (statistics & numerical data).
- MESH :
- chemical , classification : Molecular Chaperones.
- genetics : Cell Cycle, Dystonic Disorders, Endoplasmic Reticulum, Molecular Chaperones, Nuclear Proteins.
- metabolism : Endoplasmic Reticulum, Molecular Chaperones, Neurons, Nuclear Proteins.
- pathology : Dystonic Disorders, Neurons.
- statistics & numerical data : PubMed.
- Animals, Humans.
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.
Url:
DOI: 10.1002/mds.25547
PubMed: 23893453
PubMed Central: 3838975
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000347
- to stream Pmc, to step Curation: 000347
- to stream Pmc, to step Checkpoint: 000122
- to stream PubMed, to step Corpus: 000804
- to stream PubMed, to step Curation: 000804
- to stream PubMed, to step Checkpoint: 000A13
- to stream Ncbi, to step Merge: 003C92
- to stream Ncbi, to step Curation: 003C92
- to stream Ncbi, to step Checkpoint: 003C92
- to stream Main, to step Merge: 000A04
- to stream Main, to step Curation: 000A04
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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>
<wicri:noRegion>Tennessee 38163</wicri:noRegion>
</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>
<wicri:noRegion>Michigan 48109</wicri:noRegion>
</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>
<wicri:noRegion>London WC1N 1PJ</wicri:noRegion>
</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>
<idno type="wicri:Area/Pmc/Checkpoint">000122</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">000804</idno>
<idno type="wicri:Area/PubMed/Curation">000804</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000A13</idno>
<idno type="wicri:Area/Ncbi/Merge">003C92</idno>
<idno type="wicri:Area/Ncbi/Curation">003C92</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">003C92</idno>
<idno type="wicri:doubleKey">0885-3185:2013:Ledoux M:emerging:common:molecular</idno>
<idno type="wicri:Area/Main/Merge">000A04</idno>
<idno type="wicri:Area/Main/Curation">000A04</idno>
<idno type="wicri:Area/Main/Exploration">000A04</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>
<wicri:noRegion>Tennessee 38163</wicri:noRegion>
</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>
<wicri:noRegion>Michigan 48109</wicri:noRegion>
</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>
<wicri:noRegion>London WC1N 1PJ</wicri:noRegion>
</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><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term>
<term>Cell Cycle (genetics)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Dystonic Disorders (pathology)</term>
<term>Endoplasmic Reticulum (genetics)</term>
<term>Endoplasmic Reticulum (metabolism)</term>
<term>Humans</term>
<term>Molecular Chaperones (classification)</term>
<term>Molecular Chaperones (genetics)</term>
<term>Molecular Chaperones (metabolism)</term>
<term>Neurons (metabolism)</term>
<term>Neurons (pathology)</term>
<term>Nuclear Proteins (genetics)</term>
<term>Nuclear Proteins (metabolism)</term>
<term>PubMed (statistics & numerical data)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="classification" xml:lang="en"><term>Molecular Chaperones</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cell Cycle</term>
<term>Dystonic Disorders</term>
<term>Endoplasmic Reticulum</term>
<term>Molecular Chaperones</term>
<term>Nuclear Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Endoplasmic Reticulum</term>
<term>Molecular Chaperones</term>
<term>Neurons</term>
<term>Nuclear Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Dystonic Disorders</term>
<term>Neurons</term>
</keywords>
<keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>PubMed</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Animals</term>
<term>Humans</term>
</keywords>
</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>
<affiliations><list><country><li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S" last="Ledoux">Mark S. Ledoux</name>
</noRegion>
<name sortKey="Dauer, William T" sort="Dauer, William T" uniqKey="Dauer W" first="William T" last="Dauer">William T. Dauer</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Warner, Thomas T" sort="Warner, Thomas T" uniqKey="Warner T" first="Thomas T" last="Warner">Thomas T. Warner</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000A04 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000A04 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Main |étape= Exploration |type= RBID |clé= PMC:3838975 |texte= Emerging Common Molecular Pathways for Primary Dystonia }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:23893453" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
This area was generated with Dilib version V0.6.23. |