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

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Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism

Identifieur interne : 000332 ( Main/Exploration ); précédent : 000331; suivant : 000333

Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism

Auteurs : Andreas Puschmann [Suède] ; Fabienne C. Fiesel [États-Unis] ; Thomas R. Caulfield [États-Unis] ; Roman Hudec [États-Unis] ; Maya Ando [États-Unis] ; Dominika Truban [États-Unis] ; Xu Hou [États-Unis] ; Kotaro Ogaki [États-Unis] ; Michael G. Heckman [États-Unis] ; Elle D. James [États-Unis] ; Maria Swanberg [Suède] ; Itzia Jimenez-Ferrer [Suède] ; Oskar Hansson [Suède] ; Grzegorz Opala [Pologne] ; Joanna Siuda [Pologne] ; Magdalena Boczarska-Jedynak [Pologne] ; Andrzej Friedman [Pologne] ; Dariusz Koziorowski [Pologne] ; Monika Rudzi Ska-Bar [Pologne] ; Jan O. Aasly [Norvège] ; Timothy Lynch [Irlande (pays)] ; George D. Mellick [Australie] ; Megha Mohan [Australie] ; Peter A. Silburn [Australie] ; Yanosh Sanotsky [Ukraine] ; Carles Vilari O-Güell [États-Unis, Canada] ; Matthew J. Farrer [États-Unis, Canada] ; Li Chen [États-Unis] ; Valina L. Dawson [États-Unis] ; Ted M. Dawson [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Owen A. Ross [États-Unis, Irlande (pays)] ; Wolfdieter Springer [États-Unis]

Source :

RBID : PMC:5379862

Abstract

See Gandhi and Plun-Favreau (doi:10.1093/aww320) for a scientific commentary on this article.

Heterozygous mutations in recessive Parkinson’s disease genes have been postulated to increase disease risk. Puschmann et al. report a genetic association between heterozygous PINK1 p.G411S and Parkinson’s disease. They provide structural and functional explanations for a partial dominant-negative effect of the mutant protein, which impairs wild-type PINK1 activity through hetero-dimerization.


Url:
DOI: 10.1093/brain/aww261
PubMed: 27807026
PubMed Central: 5379862


Affiliations:


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<nlm:aff id="aww261-AFF18">18 Adrienne Helis Malvin Medical Research Foundation, New Orleans, LA 70130-2685, USA</nlm:aff>
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<name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name>
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<nlm:aff id="aww261-AFF16">16 Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff>
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<affiliation wicri:level="1">
<nlm:aff id="aww261-AFF17">17 Solomon H Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff>
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</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aww261-AFF19">19 Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff>
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<wicri:noRegion>MD 21205</wicri:noRegion>
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<affiliation wicri:level="1">
<nlm:aff id="aww261-AFF20">20 Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>20 Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea>
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<author>
<name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name>
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<nlm:aff id="aww261-AFF19">19 Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff>
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<affiliation wicri:level="1">
<nlm:aff id="aww261-AFF21">21 Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA</nlm:aff>
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<wicri:regionArea>21 Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205</wicri:regionArea>
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</author>
<author>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="1">
<nlm:aff id="aww261-AFF22">22 Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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</affiliation>
</author>
<author>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
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<nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff>
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<affiliation wicri:level="1">
<nlm:aff id="aww261-AFF23">23 School of Medicine and Medical Science, University College Dublin, Dublin, Ireland</nlm:aff>
<country xml:lang="fr">Irlande (pays)</country>
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<affiliation wicri:level="1">
<nlm:aff id="aww261-AFF24">24 Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff>
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</author>
<author>
<name sortKey="Springer, Wolfdieter" sort="Springer, Wolfdieter" uniqKey="Springer W" first="Wolfdieter" last="Springer">Wolfdieter Springer</name>
<affiliation wicri:level="1">
<nlm:aff id="aww261-AFF3">3 Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<affiliation wicri:level="1">
<nlm:aff id="aww261-AFF24">24 Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff>
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<series>
<title level="j">Brain</title>
<idno type="ISSN">0006-8950</idno>
<idno type="eISSN">1460-2156</idno>
<imprint>
<date when="2016">2016</date>
</imprint>
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<profileDesc>
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</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<p>
<bold>See Gandhi and Plun-Favreau (doi:
<related-article id="d35e428" related-article-type="companion" ext-link-type="doi" xlink:href="10.1093/brain/aww320">10.1093/aww320</related-article>
) for a scientific commentary on this article</bold>
.</p>
<p>Heterozygous mutations in recessive Parkinson’s disease genes have been postulated to increase disease risk. Puschmann
<italic>et al</italic>
. report a genetic association between heterozygous PINK1 p.G411S and Parkinson’s disease. They provide structural and functional explanations for a partial dominant-negative effect of the mutant protein, which impairs wild-type PINK1 activity through hetero-dimerization.</p>
</div>
</front>
<back>
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<name sortKey="Wider, C" uniqKey="Wider C">C Wider</name>
</author>
<author>
<name sortKey="Ross, Oa" uniqKey="Ross O">OA Ross</name>
</author>
<author>
<name sortKey="Wszolek, Zk" uniqKey="Wszolek Z">ZK Wszolek</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Xue, Y" uniqKey="Xue Y">Y Xue</name>
</author>
<author>
<name sortKey="Ouyang, K" uniqKey="Ouyang K">K Ouyang</name>
</author>
<author>
<name sortKey="Huang, J" uniqKey="Huang J">J Huang</name>
</author>
<author>
<name sortKey="Zhou, Y" uniqKey="Zhou Y">Y Zhou</name>
</author>
<author>
<name sortKey="Ouyang, H" uniqKey="Ouyang H">H Ouyang</name>
</author>
<author>
<name sortKey="Li, H" uniqKey="Li H">H Li</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Yamano, K" uniqKey="Yamano K">K Yamano</name>
</author>
<author>
<name sortKey="Youle, Rj" uniqKey="Youle R">RJ Youle</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Zhang, Yj" uniqKey="Zhang Y">YJ Zhang</name>
</author>
<author>
<name sortKey="Caulfield, T" uniqKey="Caulfield T">T Caulfield</name>
</author>
<author>
<name sortKey="Xu, Yf" uniqKey="Xu Y">YF Xu</name>
</author>
<author>
<name sortKey="Gendron, Tf" uniqKey="Gendron T">TF Gendron</name>
</author>
<author>
<name sortKey="Hubbard, J" uniqKey="Hubbard J">J Hubbard</name>
</author>
<author>
<name sortKey="Stetler, C" uniqKey="Stetler C">C Stetler</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Zhou, H" uniqKey="Zhou H">H Zhou</name>
</author>
<author>
<name sortKey="Pandit, Sb" uniqKey="Pandit S">SB Pandit</name>
</author>
<author>
<name sortKey="Lee, Sy" uniqKey="Lee S">SY Lee</name>
</author>
<author>
<name sortKey="Borreguero, J" uniqKey="Borreguero J">J Borreguero</name>
</author>
<author>
<name sortKey="Chen, H" uniqKey="Chen H">H Chen</name>
</author>
<author>
<name sortKey="Wroblewska, L" uniqKey="Wroblewska L">L Wroblewska</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Zhou, H" uniqKey="Zhou H">H Zhou</name>
</author>
<author>
<name sortKey="Pandit, Sb" uniqKey="Pandit S">SB Pandit</name>
</author>
<author>
<name sortKey="Skolnick, J" uniqKey="Skolnick J">J Skolnick</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Zhou, H" uniqKey="Zhou H">H Zhou</name>
</author>
<author>
<name sortKey="Skolnick, J" uniqKey="Skolnick J">J Skolnick</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Zhou, H" uniqKey="Zhou H">H Zhou</name>
</author>
<author>
<name sortKey="Skolnick, J" uniqKey="Skolnick J">J Skolnick</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Zhou, H" uniqKey="Zhou H">H Zhou</name>
</author>
<author>
<name sortKey="Skolnick, J" uniqKey="Skolnick J">J Skolnick</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Zhou, H" uniqKey="Zhou H">H Zhou</name>
</author>
<author>
<name sortKey="Skolnick, J" uniqKey="Skolnick J">J Skolnick</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
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<list>
<country>
<li>Australie</li>
<li>Canada</li>
<li>Irlande (pays)</li>
<li>Norvège</li>
<li>Pologne</li>
<li>Suède</li>
<li>Ukraine</li>
<li>États-Unis</li>
</country>
<region>
<li>Trøndelag</li>
</region>
<settlement>
<li>Trondheim</li>
</settlement>
</list>
<tree>
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<name sortKey="Hansson, Oskar" sort="Hansson, Oskar" uniqKey="Hansson O" first="Oskar" last="Hansson">Oskar Hansson</name>
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<name sortKey="Jimenez Ferrer, Itzia" sort="Jimenez Ferrer, Itzia" uniqKey="Jimenez Ferrer I" first="Itzia" last="Jimenez-Ferrer">Itzia Jimenez-Ferrer</name>
<name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
<name sortKey="Swanberg, Maria" sort="Swanberg, Maria" uniqKey="Swanberg M" first="Maria" last="Swanberg">Maria Swanberg</name>
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<country name="États-Unis">
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<name sortKey="Ando, Maya" sort="Ando, Maya" uniqKey="Ando M" first="Maya" last="Ando">Maya Ando</name>
<name sortKey="Caulfield, Thomas R" sort="Caulfield, Thomas R" uniqKey="Caulfield T" first="Thomas R." last="Caulfield">Thomas R. Caulfield</name>
<name sortKey="Chen, Li" sort="Chen, Li" uniqKey="Chen L" first="Li" last="Chen">Li Chen</name>
<name sortKey="Chen, Li" sort="Chen, Li" uniqKey="Chen L" first="Li" last="Chen">Li Chen</name>
<name sortKey="Chen, Li" sort="Chen, Li" uniqKey="Chen L" first="Li" last="Chen">Li Chen</name>
<name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name>
<name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name>
<name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name>
<name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name>
<name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name>
<name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name>
<name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name>
<name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name>
<name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name>
<name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name>
<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name>
<name sortKey="Hou, Xu" sort="Hou, Xu" uniqKey="Hou X" first="Xu" last="Hou">Xu Hou</name>
<name sortKey="Hudec, Roman" sort="Hudec, Roman" uniqKey="Hudec R" first="Roman" last="Hudec">Roman Hudec</name>
<name sortKey="James, Elle D" sort="James, Elle D" uniqKey="James E" first="Elle D." last="James">Elle D. James</name>
<name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<name sortKey="Springer, Wolfdieter" sort="Springer, Wolfdieter" uniqKey="Springer W" first="Wolfdieter" last="Springer">Wolfdieter Springer</name>
<name sortKey="Springer, Wolfdieter" sort="Springer, Wolfdieter" uniqKey="Springer W" first="Wolfdieter" last="Springer">Wolfdieter Springer</name>
<name sortKey="Truban, Dominika" sort="Truban, Dominika" uniqKey="Truban D" first="Dominika" last="Truban">Dominika Truban</name>
<name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
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<name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name>
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<name sortKey="Boczarska Jedynak, Magdalena" sort="Boczarska Jedynak, Magdalena" uniqKey="Boczarska Jedynak M" first="Magdalena" last="Boczarska-Jedynak">Magdalena Boczarska-Jedynak</name>
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<name sortKey="Rudzi Ska Bar, Monika" sort="Rudzi Ska Bar, Monika" uniqKey="Rudzi Ska Bar M" first="Monika" last="Rudzi Ska-Bar">Monika Rudzi Ska-Bar</name>
<name sortKey="Siuda, Joanna" sort="Siuda, Joanna" uniqKey="Siuda J" first="Joanna" last="Siuda">Joanna Siuda</name>
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<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
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<country name="Australie">
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<name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name>
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</country>
<country name="Canada">
<noRegion>
<name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
</noRegion>
<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
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</record>

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