Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities
Identifieur interne : 005305 ( Main/Exploration ); précédent : 005304; suivant : 005306Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities
Auteurs : Martin Breuss [Autriche] ; Julian Ik-Tsen Heng [Australie] ; Karine Poirier [France] ; Guoling Tian [États-Unis] ; Xavier Hubert Jaglin [France] ; Zhengdong Qu [Australie] ; Andreas Braun [Autriche] ; Thomas Gstrein [Autriche] ; Linh Ngo [Australie] ; Matilda Haas [Australie] ; Nadia Bahi-Buisson [France] ; Marie-Laure Moutard [France] ; Sandrine Passemard [France] ; Alain Verloes [France] ; Pierre Gressens [France] ; Yunli Xie [Autriche] ; Kathryn J. H. Robson [Royaume-Uni] ; Deepa Selvi Rani [Inde] ; Kumarasamy Thangaraj [Inde] ; Tim Clausen [Autriche] ; Jamel Chelly [France] ; Nicholas Justin Cowan [États-Unis] ; David Anthony Keays [Autriche]Source :
- Cell Reports [ 2211-1247 ] ; 2012.
Abstract
The formation of the mammalian cortex requires the generation, migration, and differentiation of neurons. The vital role that the microtubule cytoskeleton plays in these cellular processes is reflected by the discovery that mutations in various tubulin isotypes cause different neurodevelopmental diseases, including lissencephaly (
Url:
DOI: 10.1016/j.celrep.2012.11.017
PubMed: 23246003
PubMed Central: 3595605
Affiliations:
- Australie, Autriche, France, Inde, Royaume-Uni, États-Unis
- Angleterre, Oxfordshire, Vienne (Autriche), État de New York, Île-de-France
- Oxford, Paris, Vienne (Autriche)
- Université Paris-Descartes, Université d'Oxford
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Le document en format XML
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H." last="Robson">Kathryn J. H. Robson</name><affiliation wicri:level="4"><nlm:aff id="aff9">MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS</wicri:regionArea><orgName type="university">Université d'Oxford</orgName><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Rani, Deepa Selvi" sort="Rani, Deepa Selvi" uniqKey="Rani D" first="Deepa Selvi" last="Rani">Deepa Selvi Rani</name><affiliation wicri:level="1"><nlm:aff id="aff10">Centre for Cellular and Molecular Biology, Habsiguda, Uppal Rd, Hyderabad 500 007, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Centre for Cellular and Molecular Biology, Habsiguda, Uppal Rd, Hyderabad 500 007</wicri:regionArea><wicri:noRegion>Hyderabad 500 007</wicri:noRegion></affiliation></author><author><name sortKey="Thangaraj, Kumarasamy" sort="Thangaraj, Kumarasamy" uniqKey="Thangaraj K" first="Kumarasamy" last="Thangaraj">Kumarasamy Thangaraj</name><affiliation wicri:level="1"><nlm:aff id="aff10">Centre for Cellular and Molecular Biology, Habsiguda, Uppal Rd, Hyderabad 500 007, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Centre for Cellular and Molecular Biology, Habsiguda, Uppal Rd, Hyderabad 500 007</wicri:regionArea><wicri:noRegion>Hyderabad 500 007</wicri:noRegion></affiliation></author><author><name sortKey="Clausen, Tim" sort="Clausen, Tim" uniqKey="Clausen T" first="Tim" last="Clausen">Tim Clausen</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="4"><nlm:aff id="aff3">Institut Cochin; INSERM Unité 1016; CNRS UMR 8104; Université Paris Descartes, Sorbonne Paris Cité Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin; INSERM Unité 1016; CNRS UMR 8104; Université Paris Descartes, Sorbonne Paris Cité Paris</wicri:regionArea><wicri:noRegion>Sorbonne Paris Cité Paris</wicri:noRegion><orgName type="university">Université Paris-Descartes</orgName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Cowan, Nicholas Justin" sort="Cowan, Nicholas Justin" uniqKey="Cowan N" first="Nicholas Justin" last="Cowan">Nicholas Justin Cowan</name><affiliation wicri:level="2"><nlm:aff id="aff4">Department of Biochemistry and Molecular Pharmacology, New York University Medical Center, New York, NY 10016, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biochemistry and Molecular Pharmacology, New York University Medical Center, New York, NY 10016</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Keays, David Anthony" sort="Keays, David Anthony" uniqKey="Keays D" first="David Anthony" last="Keays">David Anthony Keays</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23246003</idno><idno type="pmc">3595605</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3595605</idno><idno type="RBID">PMC:3595605</idno><idno type="doi">10.1016/j.celrep.2012.11.017</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001236</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001236</idno><idno type="wicri:Area/Pmc/Curation">001097</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001097</idno><idno type="wicri:Area/Pmc/Checkpoint">001E36</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001E36</idno><idno type="wicri:Area/Ncbi/Merge">001063</idno><idno type="wicri:Area/Ncbi/Curation">001063</idno><idno type="wicri:Area/Ncbi/Checkpoint">001063</idno><idno type="wicri:Area/Main/Merge">005523</idno><idno type="wicri:Area/Main/Curation">005305</idno><idno type="wicri:Area/Main/Exploration">005305</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in the β-Tubulin Gene <italic>TUBB5</italic> Cause Microcephaly with Structural Brain Abnormalities</title><author><name sortKey="Breuss, Martin" sort="Breuss, Martin" uniqKey="Breuss M" first="Martin" last="Breuss">Martin Breuss</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Heng, Julian Ik Tsen" sort="Heng, Julian Ik Tsen" uniqKey="Heng J" first="Julian Ik-Tsen" last="Heng">Julian Ik-Tsen Heng</name><affiliation wicri:level="1"><nlm:aff id="aff2">Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria 3800, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria 3800</wicri:regionArea><wicri:noRegion>Victoria 3800</wicri:noRegion></affiliation></author><author><name sortKey="Poirier, Karine" sort="Poirier, Karine" uniqKey="Poirier K" first="Karine" last="Poirier">Karine Poirier</name><affiliation wicri:level="4"><nlm:aff id="aff3">Institut Cochin; INSERM Unité 1016; CNRS UMR 8104; Université Paris Descartes, Sorbonne Paris Cité Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin; INSERM Unité 1016; CNRS UMR 8104; Université Paris Descartes, Sorbonne Paris Cité Paris</wicri:regionArea><wicri:noRegion>Sorbonne Paris Cité Paris</wicri:noRegion><orgName type="university">Université Paris-Descartes</orgName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Tian, Guoling" sort="Tian, Guoling" uniqKey="Tian G" first="Guoling" last="Tian">Guoling Tian</name><affiliation wicri:level="2"><nlm:aff id="aff4">Department of Biochemistry and Molecular Pharmacology, New York University Medical Center, New York, NY 10016, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biochemistry and Molecular Pharmacology, New York University Medical Center, New York, NY 10016</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Jaglin, Xavier Hubert" sort="Jaglin, Xavier Hubert" uniqKey="Jaglin X" first="Xavier Hubert" last="Jaglin">Xavier Hubert Jaglin</name><affiliation wicri:level="4"><nlm:aff id="aff3">Institut Cochin; INSERM Unité 1016; CNRS UMR 8104; Université Paris Descartes, Sorbonne Paris Cité Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin; INSERM Unité 1016; CNRS UMR 8104; Université Paris Descartes, Sorbonne Paris Cité Paris</wicri:regionArea><wicri:noRegion>Sorbonne Paris Cité Paris</wicri:noRegion><orgName type="university">Université Paris-Descartes</orgName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Qu, Zhengdong" sort="Qu, Zhengdong" uniqKey="Qu Z" first="Zhengdong" last="Qu">Zhengdong Qu</name><affiliation wicri:level="1"><nlm:aff id="aff2">Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria 3800, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria 3800</wicri:regionArea><wicri:noRegion>Victoria 3800</wicri:noRegion></affiliation></author><author><name sortKey="Braun, Andreas" sort="Braun, Andreas" uniqKey="Braun A" first="Andreas" last="Braun">Andreas Braun</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Gstrein, Thomas" sort="Gstrein, Thomas" uniqKey="Gstrein T" first="Thomas" last="Gstrein">Thomas Gstrein</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Ngo, Linh" sort="Ngo, Linh" uniqKey="Ngo L" first="Linh" last="Ngo">Linh Ngo</name><affiliation wicri:level="1"><nlm:aff id="aff2">Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria 3800, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria 3800</wicri:regionArea><wicri:noRegion>Victoria 3800</wicri:noRegion></affiliation></author><author><name sortKey="Haas, Matilda" sort="Haas, Matilda" uniqKey="Haas M" first="Matilda" last="Haas">Matilda Haas</name><affiliation wicri:level="1"><nlm:aff id="aff2">Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria 3800, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria 3800</wicri:regionArea><wicri:noRegion>Victoria 3800</wicri:noRegion></affiliation></author><author><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name><affiliation wicri:level="4"><nlm:aff id="aff3">Institut Cochin; INSERM Unité 1016; CNRS UMR 8104; Université Paris Descartes, Sorbonne Paris Cité Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin; INSERM Unité 1016; CNRS UMR 8104; Université Paris Descartes, Sorbonne Paris Cité Paris</wicri:regionArea><wicri:noRegion>Sorbonne Paris Cité Paris</wicri:noRegion><orgName type="university">Université Paris-Descartes</orgName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Moutard, Marie Laure" sort="Moutard, Marie Laure" uniqKey="Moutard M" first="Marie-Laure" last="Moutard">Marie-Laure Moutard</name><affiliation wicri:level="1"><nlm:aff id="aff5">Service de Neurologie Pediatrique, AP-HP, Hopital Trousseau, Paris, 75571, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Neurologie Pediatrique, AP-HP, Hopital Trousseau, Paris, 75571</wicri:regionArea><wicri:noRegion>75571</wicri:noRegion><wicri:noRegion>75571</wicri:noRegion></affiliation></author><author><name sortKey="Passemard, Sandrine" sort="Passemard, Sandrine" uniqKey="Passemard S" first="Sandrine" last="Passemard">Sandrine Passemard</name><affiliation wicri:level="1"><nlm:aff id="aff6">INSERM UMR-676, Robert Debré Hospital, Paris, 75019, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR-676, Robert Debré Hospital, Paris, 75019</wicri:regionArea><wicri:noRegion>75019</wicri:noRegion><wicri:noRegion>75019</wicri:noRegion></affiliation><affiliation wicri:level="3"><nlm:aff id="aff7">Paris Diderot University, Department of Génétics, Robert Debré Hospital, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Paris Diderot University, Department of Génétics, Robert Debré Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation wicri:level="1"><nlm:aff id="aff6">INSERM UMR-676, Robert Debré Hospital, Paris, 75019, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR-676, Robert Debré Hospital, Paris, 75019</wicri:regionArea><wicri:noRegion>75019</wicri:noRegion><wicri:noRegion>75019</wicri:noRegion></affiliation><affiliation wicri:level="3"><nlm:aff id="aff7">Paris Diderot University, Department of Génétics, Robert Debré Hospital, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Paris Diderot University, Department of Génétics, Robert Debré Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Gressens, Pierre" sort="Gressens, Pierre" uniqKey="Gressens P" first="Pierre" last="Gressens">Pierre Gressens</name><affiliation wicri:level="1"><nlm:aff id="aff6">INSERM UMR-676, Robert Debré Hospital, Paris, 75019, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR-676, Robert Debré Hospital, Paris, 75019</wicri:regionArea><wicri:noRegion>75019</wicri:noRegion><wicri:noRegion>75019</wicri:noRegion></affiliation></author><author><name sortKey="Xie, Yunli" sort="Xie, Yunli" uniqKey="Xie Y" first="Yunli" last="Xie">Yunli Xie</name><affiliation wicri:level="3"><nlm:aff id="aff8">Institute of Molecular Biotechnology, Dr Bohr-Gasse 3, Vienna, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Molecular Biotechnology, Dr Bohr-Gasse 3, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Robson, Kathryn J H" sort="Robson, Kathryn J H" uniqKey="Robson K" first="Kathryn J. H." last="Robson">Kathryn J. H. Robson</name><affiliation wicri:level="4"><nlm:aff id="aff9">MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS</wicri:regionArea><orgName type="university">Université d'Oxford</orgName><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Rani, Deepa Selvi" sort="Rani, Deepa Selvi" uniqKey="Rani D" first="Deepa Selvi" last="Rani">Deepa Selvi Rani</name><affiliation wicri:level="1"><nlm:aff id="aff10">Centre for Cellular and Molecular Biology, Habsiguda, Uppal Rd, Hyderabad 500 007, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Centre for Cellular and Molecular Biology, Habsiguda, Uppal Rd, Hyderabad 500 007</wicri:regionArea><wicri:noRegion>Hyderabad 500 007</wicri:noRegion></affiliation></author><author><name sortKey="Thangaraj, Kumarasamy" sort="Thangaraj, Kumarasamy" uniqKey="Thangaraj K" first="Kumarasamy" last="Thangaraj">Kumarasamy Thangaraj</name><affiliation wicri:level="1"><nlm:aff id="aff10">Centre for Cellular and Molecular Biology, Habsiguda, Uppal Rd, Hyderabad 500 007, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Centre for Cellular and Molecular Biology, Habsiguda, Uppal Rd, Hyderabad 500 007</wicri:regionArea><wicri:noRegion>Hyderabad 500 007</wicri:noRegion></affiliation></author><author><name sortKey="Clausen, Tim" sort="Clausen, Tim" uniqKey="Clausen T" first="Tim" last="Clausen">Tim Clausen</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="4"><nlm:aff id="aff3">Institut Cochin; INSERM Unité 1016; CNRS UMR 8104; Université Paris Descartes, Sorbonne Paris Cité Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Cochin; INSERM Unité 1016; CNRS UMR 8104; Université Paris Descartes, Sorbonne Paris Cité Paris</wicri:regionArea><wicri:noRegion>Sorbonne Paris Cité Paris</wicri:noRegion><orgName type="university">Université Paris-Descartes</orgName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Cowan, Nicholas Justin" sort="Cowan, Nicholas Justin" uniqKey="Cowan N" first="Nicholas Justin" last="Cowan">Nicholas Justin Cowan</name><affiliation wicri:level="2"><nlm:aff id="aff4">Department of Biochemistry and Molecular Pharmacology, New York University Medical Center, New York, NY 10016, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biochemistry and Molecular Pharmacology, New York University Medical Center, New York, NY 10016</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Keays, David Anthony" sort="Keays, David Anthony" uniqKey="Keays D" first="David Anthony" last="Keays">David Anthony Keays</name><affiliation wicri:level="1"><nlm:aff id="aff1">Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author></analytic><series><title level="j">Cell Reports</title><idno type="eISSN">2211-1247</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>Summary</title><p>The formation of the mammalian cortex requires the generation, migration, and differentiation of neurons. The vital role that the microtubule cytoskeleton plays in these cellular processes is reflected by the discovery that mutations in various tubulin isotypes cause different neurodevelopmental diseases, including lissencephaly (<italic>TUBA1A</italic>), polymicrogyria (<italic>TUBA1A</italic>, <italic>TUBB2B</italic>, <italic>TUBB3</italic>), and an ocular motility disorder (<italic>TUBB3</italic>). Here, we show that <italic>Tubb5</italic> is expressed in neurogenic progenitors in the mouse and that its depletion in vivo perturbs the cell cycle of progenitors and alters the position of migrating neurons. We report the occurrence of three microcephalic patients with structural brain abnormalities harboring de novo mutations in <italic>TUBB5</italic> (M299V, V353I, and E401K). These mutant proteins, which affect the chaperone-dependent assembly of tubulin heterodimers in different ways, disrupt neurogenic division and/or migration in vivo. Our results provide insight into the functional repertoire of the tubulin gene family, specifically implicating <italic>TUBB5</italic> in embryonic neurogenesis and microcephaly.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Ayala, R" uniqKey="Ayala R">R. Ayala</name></author><author><name sortKey="Shu, T" uniqKey="Shu T">T. Shu</name></author><author><name sortKey="Tsai, L H" uniqKey="Tsai L">L.H. Tsai</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Braun, A" uniqKey="Braun A">A. Braun</name></author><author><name sortKey="Breuss, M" uniqKey="Breuss M">M. Breuss</name></author><author><name sortKey="Salzer, M C" uniqKey="Salzer M">M.C. Salzer</name></author><author><name sortKey="Flint, J" uniqKey="Flint J">J. Flint</name></author><author><name sortKey="Cowan, N J" uniqKey="Cowan N">N.J. Cowan</name></author><author><name sortKey="Keays, D A" uniqKey="Keays D">D.A. Keays</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cowan, N J" uniqKey="Cowan N">N.J. Cowan</name></author><author><name sortKey="Lewis, S A" uniqKey="Lewis S">S.A. Lewis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Edwards, A" uniqKey="Edwards A">A. Edwards</name></author><author><name sortKey="Treiber, C D" uniqKey="Treiber C">C.D. Treiber</name></author><author><name sortKey="Breuss, M" uniqKey="Breuss M">M. Breuss</name></author><author><name sortKey="Pidsley, R" uniqKey="Pidsley R">R. Pidsley</name></author><author><name sortKey="Huang, G J" uniqKey="Huang G">G.J. Huang</name></author><author><name sortKey="Cleak, J" uniqKey="Cleak J">J. Cleak</name></author><author><name sortKey="Oliver, P L" uniqKey="Oliver P">P.L. Oliver</name></author><author><name sortKey="Flint, J" uniqKey="Flint J">J. Flint</name></author><author><name sortKey="Keays, D A" uniqKey="Keays D">D.A. Keays</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Feng, Y" uniqKey="Feng Y">Y. Feng</name></author><author><name sortKey="Walsh, C A" uniqKey="Walsh C">C.A. Walsh</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gloster, A" uniqKey="Gloster A">A. Gloster</name></author><author><name sortKey="El Bizri, H" uniqKey="El Bizri H">H. El-Bizri</name></author><author><name sortKey="Bamji, S X" uniqKey="Bamji S">S.X. Bamji</name></author><author><name sortKey="Rogers, D" uniqKey="Rogers D">D. Rogers</name></author><author><name sortKey="Miller, F D" uniqKey="Miller F">F.D. Miller</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Heng, J I" uniqKey="Heng J">J.I. Heng</name></author><author><name sortKey="Nguyen, L" uniqKey="Nguyen L">L. Nguyen</name></author><author><name sortKey="Castro, D S" uniqKey="Castro D">D.S. Castro</name></author><author><name sortKey="Zimmer, C" uniqKey="Zimmer C">C. Zimmer</name></author><author><name sortKey="Wildner, H" uniqKey="Wildner H">H. Wildner</name></author><author><name sortKey="Armant, O" uniqKey="Armant O">O. Armant</name></author><author><name sortKey="Skowronska Krawczyk, D" uniqKey="Skowronska Krawczyk D">D. Skowronska-Krawczyk</name></author><author><name sortKey="Bedogni, F" uniqKey="Bedogni F">F. Bedogni</name></author><author><name sortKey="Matter, J M" uniqKey="Matter J">J.M. Matter</name></author><author><name sortKey="Hevner, R" uniqKey="Hevner R">R. Hevner</name></author><author><name sortKey="Guillemot, F" uniqKey="Guillemot F">F. Guillemot</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jaglin, X H" uniqKey="Jaglin X">X.H. Jaglin</name></author><author><name sortKey="Poirier, K" uniqKey="Poirier K">K. Poirier</name></author><author><name sortKey="Saillour, Y" uniqKey="Saillour Y">Y. Saillour</name></author><author><name sortKey="Buhler, E" uniqKey="Buhler E">E. Buhler</name></author><author><name sortKey="Tian, G" uniqKey="Tian G">G. Tian</name></author><author><name sortKey="Bahi Buisson, N" uniqKey="Bahi Buisson N">N. Bahi-Buisson</name></author><author><name sortKey="Fallet Bianco, C" uniqKey="Fallet Bianco C">C. Fallet-Bianco</name></author><author><name sortKey="Phan Dinh Tuy, F" uniqKey="Phan Dinh Tuy F">F. Phan-Dinh-Tuy</name></author><author><name sortKey="Kong, X P" uniqKey="Kong X">X.P. Kong</name></author><author><name sortKey="Bomont, P" uniqKey="Bomont P">P. Bomont</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Keays, D A" uniqKey="Keays D">D.A. Keays</name></author><author><name sortKey="Tian, G" uniqKey="Tian G">G. Tian</name></author><author><name sortKey="Poirier, K" uniqKey="Poirier K">K. Poirier</name></author><author><name sortKey="Huang, G J" uniqKey="Huang G">G.J. Huang</name></author><author><name sortKey="Siebold, C" uniqKey="Siebold C">C. Siebold</name></author><author><name sortKey="Cleak, J" uniqKey="Cleak J">J. Cleak</name></author><author><name sortKey="Oliver, P L" uniqKey="Oliver P">P.L. Oliver</name></author><author><name sortKey="Fray, M" uniqKey="Fray M">M. Fray</name></author><author><name sortKey="Harvey, R J" uniqKey="Harvey R">R.J. Harvey</name></author><author><name sortKey="Molnar, Z" uniqKey="Molnar Z">Z. Molnár</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kim, W Y" uniqKey="Kim W">W.Y. Kim</name></author><author><name sortKey="Wang, X" uniqKey="Wang X">X. Wang</name></author><author><name sortKey="Wu, Y" uniqKey="Wu Y">Y. Wu</name></author><author><name sortKey="Doble, B W" uniqKey="Doble B">B.W. Doble</name></author><author><name sortKey="Patel, S" uniqKey="Patel S">S. Patel</name></author><author><name sortKey="Woodgett, J R" uniqKey="Woodgett J">J.R. Woodgett</name></author><author><name sortKey="Snider, W D" uniqKey="Snider W">W.D. Snider</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kumar, R A" uniqKey="Kumar R">R.A. Kumar</name></author><author><name sortKey="Pilz, D T" uniqKey="Pilz D">D.T. Pilz</name></author><author><name sortKey="Babatz, T D" uniqKey="Babatz T">T.D. Babatz</name></author><author><name sortKey="Cushion, T D" uniqKey="Cushion T">T.D. Cushion</name></author><author><name sortKey="Harvey, K" uniqKey="Harvey K">K. Harvey</name></author><author><name sortKey="Topf, M" uniqKey="Topf M">M. Topf</name></author><author><name sortKey="Yates, L" uniqKey="Yates L">L. Yates</name></author><author><name sortKey="Robb, S" uniqKey="Robb S">S. Robb</name></author><author><name sortKey="Uyanik, G" uniqKey="Uyanik G">G. Uyanik</name></author><author><name sortKey="Mancini, G M" uniqKey="Mancini G">G.M. Mancini</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Liu, L" uniqKey="Liu L">L. Liu</name></author><author><name sortKey="Geisert, E E" uniqKey="Geisert E">E.E. Geisert</name></author><author><name sortKey="Frankfurter, A" uniqKey="Frankfurter A">A. Frankfurter</name></author><author><name sortKey="Spano, A J" uniqKey="Spano A">A.J. Spano</name></author><author><name sortKey="Jiang, C X" uniqKey="Jiang C">C.X. Jiang</name></author><author><name sortKey="Yue, J" uniqKey="Yue J">J. Yue</name></author><author><name sortKey="Dragatsis, I" uniqKey="Dragatsis I">I. Dragatsis</name></author><author><name sortKey="Goldowitz, D" uniqKey="Goldowitz D">D. Goldowitz</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lizarraga, S B" uniqKey="Lizarraga S">S.B. Lizarraga</name></author><author><name sortKey="Margossian, S P" uniqKey="Margossian S">S.P. Margossian</name></author><author><name sortKey="Harris, M H" uniqKey="Harris M">M.H. Harris</name></author><author><name sortKey="Campagna, D R" uniqKey="Campagna D">D.R. Campagna</name></author><author><name sortKey="Han, A P" uniqKey="Han A">A.P. Han</name></author><author><name sortKey="Blevins, S" uniqKey="Blevins S">S. Blevins</name></author><author><name sortKey="Mudbhary, R" uniqKey="Mudbhary R">R. Mudbhary</name></author><author><name sortKey="Barker, J E" uniqKey="Barker J">J.E. Barker</name></author><author><name sortKey="Walsh, C A" uniqKey="Walsh C">C.A. Walsh</name></author><author><name sortKey="Fleming, M D" uniqKey="Fleming M">M.D. Fleming</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lowe, J" uniqKey="Lowe J">J. Löwe</name></author><author><name sortKey="Li, H" uniqKey="Li H">H. Li</name></author><author><name sortKey="Downing, K H" uniqKey="Downing K">K.H. Downing</name></author><author><name sortKey="Nogales, E" uniqKey="Nogales E">E. Nogales</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Neale, B M" uniqKey="Neale B">B.M. Neale</name></author><author><name sortKey="Kou, Y" uniqKey="Kou Y">Y. Kou</name></author><author><name sortKey="Liu, L" uniqKey="Liu L">L. Liu</name></author><author><name sortKey="Ma Yan, A" uniqKey="Ma Yan A">A. Ma’ayan</name></author><author><name sortKey="Samocha, K E" uniqKey="Samocha K">K.E. Samocha</name></author><author><name sortKey="Sabo, A" uniqKey="Sabo A">A. Sabo</name></author><author><name sortKey="Lin, C F" uniqKey="Lin C">C.F. Lin</name></author><author><name sortKey="Stevens, C" uniqKey="Stevens C">C. Stevens</name></author><author><name sortKey="Wang, L S" uniqKey="Wang L">L.S. Wang</name></author><author><name sortKey="Makarov, V" uniqKey="Makarov V">V. Makarov</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ohnuma, S" uniqKey="Ohnuma S">S. Ohnuma</name></author><author><name sortKey="Harris, W A" uniqKey="Harris W">W.A. Harris</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pacary, E" uniqKey="Pacary E">E. Pacary</name></author><author><name sortKey="Heng, J" uniqKey="Heng J">J. Heng</name></author><author><name sortKey="Azzarelli, R" uniqKey="Azzarelli R">R. Azzarelli</name></author><author><name sortKey="Riou, P" uniqKey="Riou P">P. Riou</name></author><author><name sortKey="Castro, D" uniqKey="Castro D">D. Castro</name></author><author><name sortKey="Lebel Potter, M" uniqKey="Lebel Potter M">M. Lebel-Potter</name></author><author><name sortKey="Parras, C" uniqKey="Parras C">C. Parras</name></author><author><name sortKey="Bell, D M" uniqKey="Bell D">D.M. Bell</name></author><author><name sortKey="Ridley, A J" uniqKey="Ridley A">A.J. Ridley</name></author><author><name sortKey="Parsons, M" uniqKey="Parsons M">M. Parsons</name></author><author><name sortKey="Guillemot, F" uniqKey="Guillemot F">F. Guillemot</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pinto, D" uniqKey="Pinto D">D. Pinto</name></author><author><name sortKey="Pagnamenta, A T" uniqKey="Pagnamenta A">A.T. Pagnamenta</name></author><author><name sortKey="Klei, L" uniqKey="Klei L">L. Klei</name></author><author><name sortKey="Anney, R" uniqKey="Anney R">R. Anney</name></author><author><name sortKey="Merico, D" uniqKey="Merico D">D. Merico</name></author><author><name sortKey="Regan, R" uniqKey="Regan R">R. Regan</name></author><author><name sortKey="Conroy, J" uniqKey="Conroy J">J. Conroy</name></author><author><name sortKey="Magalhaes, T R" uniqKey="Magalhaes T">T.R. Magalhaes</name></author><author><name sortKey="Correia, C" uniqKey="Correia C">C. Correia</name></author><author><name sortKey="Abrahams, B S" uniqKey="Abrahams B">B.S. Abrahams</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Poirier, K" uniqKey="Poirier K">K. Poirier</name></author><author><name sortKey="Saillour, Y" uniqKey="Saillour Y">Y. Saillour</name></author><author><name sortKey="Bahi Buisson, N" uniqKey="Bahi Buisson N">N. Bahi-Buisson</name></author><author><name sortKey="Jaglin, X H" uniqKey="Jaglin X">X.H. Jaglin</name></author><author><name sortKey="Fallet Bianco, C" uniqKey="Fallet Bianco C">C. Fallet-Bianco</name></author><author><name sortKey="Nabbout, R" uniqKey="Nabbout R">R. Nabbout</name></author><author><name sortKey="Castelnau Ptakhine, L" uniqKey="Castelnau Ptakhine L">L. Castelnau-Ptakhine</name></author><author><name sortKey="Roubertie, A" uniqKey="Roubertie A">A. Roubertie</name></author><author><name sortKey="Attie Bitach, T" uniqKey="Attie Bitach T">T. Attie-Bitach</name></author><author><name sortKey="Desguerre, I" uniqKey="Desguerre I">I. Desguerre</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tian, G" uniqKey="Tian G">G. Tian</name></author><author><name sortKey="Jaglin, X H" uniqKey="Jaglin X">X.H. Jaglin</name></author><author><name sortKey="Keays, D A" uniqKey="Keays D">D.A. Keays</name></author><author><name sortKey="Francis, F" uniqKey="Francis F">F. Francis</name></author><author><name sortKey="Chelly, J" uniqKey="Chelly J">J. Chelly</name></author><author><name sortKey="Cowan, N J" uniqKey="Cowan N">N.J. Cowan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tischfield, M A" uniqKey="Tischfield M">M.A. Tischfield</name></author><author><name sortKey="Baris, H N" uniqKey="Baris H">H.N. Baris</name></author><author><name sortKey="Wu, C" uniqKey="Wu C">C. Wu</name></author><author><name sortKey="Rudolph, G" uniqKey="Rudolph G">G. Rudolph</name></author><author><name sortKey="Van Maldergem, L" uniqKey="Van Maldergem L">L. Van Maldergem</name></author><author><name sortKey="He, W" uniqKey="He W">W. He</name></author><author><name sortKey="Chan, W M" uniqKey="Chan W">W.M. Chan</name></author><author><name sortKey="Andrews, C" uniqKey="Andrews C">C. Andrews</name></author><author><name sortKey="Demer, J L" uniqKey="Demer J">J.L. Demer</name></author><author><name sortKey="Robertson, R L" uniqKey="Robertson R">R.L. Robertson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tischfield, M A" uniqKey="Tischfield M">M.A. Tischfield</name></author><author><name sortKey="Cederquist, G Y" uniqKey="Cederquist G">G.Y. Cederquist</name></author><author><name sortKey="Gupta, M L" uniqKey="Gupta M">M.L. Gupta</name></author><author><name sortKey="Engle, E C" uniqKey="Engle E">E.C. Engle</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Walsh, C A" uniqKey="Walsh C">C.A. Walsh</name></author><author><name sortKey="Engle, E C" uniqKey="Engle E">E.C. Engle</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Australie</li><li>Autriche</li><li>France</li><li>Inde</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Oxfordshire</li><li>Vienne (Autriche)</li><li>État de New York</li><li>Île-de-France</li></region><settlement><li>Oxford</li><li>Paris</li><li>Vienne (Autriche)</li></settlement><orgName><li>Université Paris-Descartes</li><li>Université d'Oxford</li></orgName></list><tree><country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Breuss, Martin" sort="Breuss, Martin" uniqKey="Breuss M" first="Martin" last="Breuss">Martin Breuss</name></region><name sortKey="Braun, Andreas" sort="Braun, Andreas" uniqKey="Braun A" first="Andreas" last="Braun">Andreas Braun</name><name sortKey="Clausen, Tim" sort="Clausen, Tim" uniqKey="Clausen T" first="Tim" last="Clausen">Tim Clausen</name><name sortKey="Gstrein, Thomas" sort="Gstrein, Thomas" uniqKey="Gstrein T" first="Thomas" last="Gstrein">Thomas Gstrein</name><name sortKey="Keays, David Anthony" sort="Keays, David Anthony" uniqKey="Keays D" first="David Anthony" last="Keays">David Anthony Keays</name><name sortKey="Xie, Yunli" sort="Xie, Yunli" uniqKey="Xie Y" first="Yunli" last="Xie">Yunli Xie</name></country><country name="Australie"><noRegion><name sortKey="Heng, Julian Ik Tsen" sort="Heng, Julian Ik Tsen" uniqKey="Heng J" first="Julian Ik-Tsen" last="Heng">Julian Ik-Tsen Heng</name></noRegion><name sortKey="Haas, Matilda" sort="Haas, Matilda" uniqKey="Haas M" first="Matilda" last="Haas">Matilda Haas</name><name sortKey="Ngo, Linh" sort="Ngo, Linh" uniqKey="Ngo L" first="Linh" last="Ngo">Linh Ngo</name><name sortKey="Qu, Zhengdong" sort="Qu, Zhengdong" uniqKey="Qu Z" first="Zhengdong" last="Qu">Zhengdong Qu</name></country><country name="France"><region name="Île-de-France"><name sortKey="Poirier, Karine" sort="Poirier, Karine" uniqKey="Poirier K" first="Karine" last="Poirier">Karine Poirier</name></region><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><name sortKey="Gressens, Pierre" sort="Gressens, Pierre" uniqKey="Gressens P" first="Pierre" last="Gressens">Pierre Gressens</name><name sortKey="Jaglin, Xavier Hubert" sort="Jaglin, Xavier Hubert" uniqKey="Jaglin X" first="Xavier Hubert" last="Jaglin">Xavier Hubert Jaglin</name><name sortKey="Moutard, Marie Laure" sort="Moutard, Marie Laure" uniqKey="Moutard M" first="Marie-Laure" last="Moutard">Marie-Laure Moutard</name><name sortKey="Passemard, Sandrine" sort="Passemard, Sandrine" uniqKey="Passemard S" first="Sandrine" last="Passemard">Sandrine Passemard</name><name sortKey="Passemard, Sandrine" sort="Passemard, Sandrine" uniqKey="Passemard S" first="Sandrine" last="Passemard">Sandrine Passemard</name><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name></country><country name="États-Unis"><region name="État de New York"><name sortKey="Tian, Guoling" sort="Tian, Guoling" uniqKey="Tian G" first="Guoling" last="Tian">Guoling Tian</name></region><name sortKey="Cowan, Nicholas Justin" sort="Cowan, Nicholas Justin" uniqKey="Cowan N" first="Nicholas Justin" last="Cowan">Nicholas Justin Cowan</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Robson, Kathryn J H" sort="Robson, Kathryn J H" uniqKey="Robson K" first="Kathryn J. H." last="Robson">Kathryn J. H. Robson</name></region></country><country name="Inde"><noRegion><name sortKey="Rani, Deepa Selvi" sort="Rani, Deepa Selvi" uniqKey="Rani D" first="Deepa Selvi" last="Rani">Deepa Selvi Rani</name></noRegion><name sortKey="Thangaraj, Kumarasamy" sort="Thangaraj, Kumarasamy" uniqKey="Thangaraj K" first="Kumarasamy" last="Thangaraj">Kumarasamy Thangaraj</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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