ParkinsonCanadaV1, France, Analysis, bibRecord, 000119

Mutations in GNAL cause primary torsion dystonia

Identifieur interne : 000119 ( France/Analysis ); précédent : 000118; suivant : 000120

Mutations in GNAL cause primary torsion dystonia

Auteurs : Tania Fuchs [États-Unis] ; Rachel Saunders-Pullman [États-Unis] ; Ikuo Masuho [États-Unis] ; Marta San Luciano [États-Unis] ; Deborah Raymond [États-Unis] ; Stewart Factor [États-Unis] ; Anthony E. Lang [Canada] ; Tsao-Wei Liang [États-Unis] ; Richard M. Trosch [États-Unis] ; Sierra White [États-Unis] ; Edmond Ainehsazan [États-Unis] ; Denis Herve [France] ; Nutan Sharma [États-Unis] ; Michelle E. Ehrlich [États-Unis] ; Kirill A. Martemyanov [États-Unis] ; Susan B. Bressman [États-Unis] ; Laurie J. Ozelius [États-Unis]

Source :

Nature genetics [ 1061-4036 ] ; 2012.

RBID : PMC:3530620

Abstract

Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures^1,2. Its molecular pathophysiology is poorly understood, in part due to limited knowledge of the genetic basis of the disorder. Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1)³, THAP1 (DYT6)⁴, and CIZ1⁵ have been identified. Using exome sequencing in two PTD families we identified a novel causative gene, GNAL, with a nonsense p.S293X mutation resulting in premature stop codon in one family and a missense p.V137M mutation in the other. Screening of GNAL in 39 PTD families, revealed six additional novel mutations in this gene. Impaired function of several of the mutations was shown by bioluminescence resonance energy transfer (BRET) assays.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530620

DOI: 10.1038/ng.2496
PubMed: 23222958
PubMed Central: 3530620

Affiliations:

Links to Exploration step

PMC:3530620

Le document en format XML

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 cause primary torsion dystonia</title>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>GNAL</italic>
 cause primary torsion dystonia</title>
<author><name sortKey="Fuchs, Tania" sort="Fuchs, Tania" uniqKey="Fuchs T" first="Tania" last="Fuchs">Tania Fuchs</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York</wicri:cityArea>
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<author><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
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<placeName><region type="state">État de New York</region>
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<placeName><region type="state">État de New York</region>
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<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
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<placeName><region type="state">Pennsylvanie</region>
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<wicri:cityArea>Department of Neurology, Jefferson Hospital for Neuroscience, Philadelphia</wicri:cityArea>
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<author><name sortKey="Trosch, Richard M" sort="Trosch, Richard M" uniqKey="Trosch R" first="Richard M." last="Trosch">Richard M. Trosch</name>
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<author><name sortKey="White, Sierra" sort="White, Sierra" uniqKey="White S" first="Sierra" last="White">Sierra White</name>
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<author><name sortKey="Herve, Denis" sort="Herve, Denis" uniqKey="Herve D" first="Denis" last="Herve">Denis Herve</name>
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<author><name sortKey="Sharma, Nutan" sort="Sharma, Nutan" uniqKey="Sharma N" first="Nutan" last="Sharma">Nutan Sharma</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Neurology, Massachusetts General Hospital, Boston</wicri:cityArea>
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<author><name sortKey="Ehrlich, Michelle E" sort="Ehrlich, Michelle E" uniqKey="Ehrlich M" first="Michelle E." last="Ehrlich">Michelle E. Ehrlich</name>
<affiliation wicri:level="2"><nlm:aff id="A14">Department of Neurology, Mount Sinai School of Medicine, New York, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Neurology, Mount Sinai School of Medicine, New York</wicri:cityArea>
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<affiliation wicri:level="2"><nlm:aff id="A15">Department of Pediatrics, Mount Sinai School of Medicine, New York, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, Mount Sinai School of Medicine, New York</wicri:cityArea>
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<author><name sortKey="Martemyanov, Kirill A" sort="Martemyanov, Kirill A" uniqKey="Martemyanov K" first="Kirill A." last="Martemyanov">Kirill A. Martemyanov</name>
<affiliation wicri:level="2"><nlm:aff id="A4">Department of Neuroscience, The Scripps Research Institute, Jupiter, FL</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
<wicri:cityArea>Department of Neuroscience, The Scripps Research Institute, Jupiter</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B." last="Bressman">Susan B. Bressman</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Beth Israel Medical Center, New York, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Neurology, Beth Israel Medical Center, New York</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A3">Department of Neurology, Albert Einstein College of Medicine, Bronx, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Neurology, Albert Einstein College of Medicine, Bronx</wicri:cityArea>
</affiliation>
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<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A14">Department of Neurology, Mount Sinai School of Medicine, New York, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Neurology, Mount Sinai School of Medicine, New York</wicri:cityArea>
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</analytic>
<series><title level="j">Nature genetics</title>
<idno type="ISSN">1061-4036</idno>
<idno type="eISSN">1546-1718</idno>
<imprint><date when="2012">2012</date>
</imprint>
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<front><div type="abstract" xml:lang="en"><p id="P1">Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures<sup><xref rid="R1" ref-type="bibr">1</xref>
,<xref rid="R2" ref-type="bibr">2</xref>
</sup>
. Its molecular pathophysiology is poorly understood, in part due to limited knowledge of the genetic basis of the disorder. Only three genes for primary torsion dystonia (PTD), <italic>TOR1A (DYT1)</italic>
<sup><xref rid="R3" ref-type="bibr">3</xref>
</sup>
, <italic>THAP1 (DYT6)</italic>
<sup><xref rid="R4" ref-type="bibr">4</xref>
</sup>
, and <italic>CIZ1</italic>
<sup><xref rid="R5" ref-type="bibr">5</xref>
</sup>
 have been identified. Using exome sequencing in two PTD families we identified a novel causative gene, <italic>GNAL</italic>
, with a nonsense p.S293X mutation resulting in premature stop codon in one family and a missense p.V137M mutation in the other. Screening of <italic>GNAL</italic>
 in 39 PTD families, revealed six additional novel mutations in this gene. Impaired function of several of the mutations was shown by bioluminescence resonance energy transfer (BRET) assays.</p>
</div>
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<name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
<name sortKey="Sharma, Nutan" sort="Sharma, Nutan" uniqKey="Sharma N" first="Nutan" last="Sharma">Nutan Sharma</name>
<name sortKey="Trosch, Richard M" sort="Trosch, Richard M" uniqKey="Trosch R" first="Richard M." last="Trosch">Richard M. Trosch</name>
<name sortKey="White, Sierra" sort="White, Sierra" uniqKey="White S" first="Sierra" last="White">Sierra White</name>
</country>
<country name="Canada"><noRegion><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
</noRegion>
</country>
<country name="France"><noRegion><name sortKey="Herve, Denis" sort="Herve, Denis" uniqKey="Herve D" first="Denis" last="Herve">Denis Herve</name>
</noRegion>
<name sortKey="Herve, Denis" sort="Herve, Denis" uniqKey="Herve D" first="Denis" last="Herve">Denis Herve</name>
<name sortKey="Herve, Denis" sort="Herve, Denis" uniqKey="Herve D" first="Denis" last="Herve">Denis Herve</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000119 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000119 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Canada
   |area=    ParkinsonCanadaV1
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     PMC:3530620
   |texte=   Mutations in GNAL cause primary torsion dystonia
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/France/Analysis/RBID.i   -Sk "pubmed:23222958" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/France/Analysis/biblio.hfd   \
       | NlmPubMed2Wicri -a ParkinsonCanadaV1

This area was generated with Dilib version V0.6.29.
Data generation: Thu May 4 22:20:19 2017. Site generation: Fri Dec 23 23:17:26 2022

La maladie de Parkinson au Canada (serveur d'exploration)

Mutations in GNAL cause primary torsion dystonia

Mutations in GNAL cause primary torsion dystonia

Source :

Abstract

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	La maladie de Parkinson au Canada (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.