LymphedemaV1, Main, Exploration, bibRecord, 001F25

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

Identifieur interne : 001F25 ( Main/Exploration ); précédent : 001F24; suivant : 001F26

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

Auteurs : Jonathan Baets [Belgique] ; Xiaohui Duan [États-Unis] ; Yanhong Wu [États-Unis] ; Gordon Smith [États-Unis] ; William W. Seeley [États-Unis] ; Inès Mademan [Belgique] ; Nicole M. Mcgrath [Nouvelle-Zélande] ; Noah C. Beadell [États-Unis] ; Julie Khoury [États-Unis] ; Maria-Victoria Botuyan [États-Unis] ; Georges Mer [États-Unis] ; Gregory A. Worrell [États-Unis] ; Kaori Hojo [Japon] ; Jessica Deleon [États-Unis] ; Matilde Laura [Royaume-Uni] ; Yo-Tsen Liu [Royaume-Uni, Taïwan] ; Jan Senderek [Allemagne] ; Joachim Weis [Allemagne] ; Peter Van Den Bergh [Belgique] ; Shana L. Merrill [États-Unis] ; Mary M. Reilly [Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; Murray Grossman [États-Unis] ; Steven S. Scherer [États-Unis] ; Peter De Jonghe [Belgique] ; Peter J. Dyck [États-Unis] ; Christopher J. Klein [États-Unis]

Source :

Brain [ 0006-8950 ] ; 2015.

RBID : PMC:5014076

Abstract

Baets et al. expand the clinical spectrum of hereditary sensory and autonomic neuropathy type 1E (HSAN1E) by studying nine newly identified kinships, and reveal a potential pathogenic mechanism for causative DNMT1 mutations. Mutant DNMT1 proteins form aggresomes in the cytoplasm, suggesting that aggresome-induced autophagy may contribute to disease pathogenesis.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014076

DOI: 10.1093/brain/awv010
PubMed: 25678562
PubMed Central: 5014076

Affiliations:

Le document en format XML

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<author><name sortKey="Baets, Jonathan" sort="Baets, Jonathan" uniqKey="Baets J" first="Jonathan" last="Baets">Jonathan Baets</name>
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<country xml:lang="fr">Belgique</country>
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</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="awv010-AFF2">2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
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</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF3">3 Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
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</affiliation>
</author>
<author><name sortKey="Duan, Xiaohui" sort="Duan, Xiaohui" uniqKey="Duan X" first="Xiaohui" last="Duan">Xiaohui Duan</name>
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<country xml:lang="fr">États-Unis</country>
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<wicri:noRegion>MN</wicri:noRegion>
</affiliation>
<affiliation><nlm:aff id="awv010-AFF5">5 Department of Neurology, China-Japan Friendship Hospital, Beijing China</nlm:aff>
<wicri:noCountry code="subfield">Beijing China</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Wu, Yanhong" sort="Wu, Yanhong" uniqKey="Wu Y" first="Yanhong" last="Wu">Yanhong Wu</name>
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<country xml:lang="fr">États-Unis</country>
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</affiliation>
</author>
<author><name sortKey="Smith, Gordon" sort="Smith, Gordon" uniqKey="Smith G" first="Gordon" last="Smith">Gordon Smith</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>7 Department of Neurology, University of Utah, UT</wicri:regionArea>
<wicri:noRegion>UT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Seeley, William W" sort="Seeley, William W" uniqKey="Seeley W" first="William W." last="Seeley">William W. Seeley</name>
<affiliation wicri:level="2"><nlm:aff id="awv010-AFF8">8 Departments of Neurology and Pathology, University of California San Franciso, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>8 Departments of Neurology and Pathology, University of California San Franciso, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mademan, Ines" sort="Mademan, Ines" uniqKey="Mademan I" first="Inès" last="Mademan">Inès Mademan</name>
<affiliation wicri:level="4"><nlm:aff id="awv010-AFF1">1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="awv010-AFF2">2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen</wicri:regionArea>
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<placeName><settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mcgrath, Nicole M" sort="Mcgrath, Nicole M" uniqKey="Mcgrath N" first="Nicole M." last="Mcgrath">Nicole M. Mcgrath</name>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF9">9 Department of Medicine, Whangarei Hospital, Whangarei, New Zealand</nlm:aff>
<country xml:lang="fr">Nouvelle-Zélande</country>
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</affiliation>
</author>
<author><name sortKey="Beadell, Noah C" sort="Beadell, Noah C" uniqKey="Beadell N" first="Noah C." last="Beadell">Noah C. Beadell</name>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF10">10 Department of Neurology, Oregon Health and Science University, Oregon, WA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>10 Department of Neurology, Oregon Health and Science University, Oregon, WA</wicri:regionArea>
<wicri:noRegion>WA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Khoury, Julie" sort="Khoury, Julie" uniqKey="Khoury J" first="Julie" last="Khoury">Julie Khoury</name>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF10">10 Department of Neurology, Oregon Health and Science University, Oregon, WA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>10 Department of Neurology, Oregon Health and Science University, Oregon, WA</wicri:regionArea>
<wicri:noRegion>WA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Botuyan, Maria Victoria" sort="Botuyan, Maria Victoria" uniqKey="Botuyan M" first="Maria-Victoria" last="Botuyan">Maria-Victoria Botuyan</name>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF11">11 Department of Biochemistry and Molecular Biology, Mayo Clinic Rochester MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>11 Department of Biochemistry and Molecular Biology, Mayo Clinic Rochester MN</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Mer, Georges" sort="Mer, Georges" uniqKey="Mer G" first="Georges" last="Mer">Georges Mer</name>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF11">11 Department of Biochemistry and Molecular Biology, Mayo Clinic Rochester MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>11 Department of Biochemistry and Molecular Biology, Mayo Clinic Rochester MN</wicri:regionArea>
<wicri:noRegion>Mayo Clinic Rochester MN</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Worrell, Gregory A" sort="Worrell, Gregory A" uniqKey="Worrell G" first="Gregory A." last="Worrell">Gregory A. Worrell</name>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF12">12 Epilepsy Research Laboratory, Department of Neurology, Mayo Clinic Rochester MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>12 Epilepsy Research Laboratory, Department of Neurology, Mayo Clinic Rochester MN</wicri:regionArea>
<wicri:noRegion>Mayo Clinic Rochester MN</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hojo, Kaori" sort="Hojo, Kaori" uniqKey="Hojo K" first="Kaori" last="Hojo">Kaori Hojo</name>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF13">13 Harima Sanatorium, Division of Neuropsychiatry, Hyogo, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>13 Harima Sanatorium, Division of Neuropsychiatry, Hyogo</wicri:regionArea>
<wicri:noRegion>Hyogo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Deleon, Jessica" sort="Deleon, Jessica" uniqKey="Deleon J" first="Jessica" last="Deleon">Jessica Deleon</name>
<affiliation wicri:level="2"><nlm:aff id="awv010-AFF14">14 Department of Neurology, University of California, San Francisco, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>14 Department of Neurology, University of California, San Francisco, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Laura, Matilde" sort="Laura, Matilde" uniqKey="Laura M" first="Matilde" last="Laura">Matilde Laura</name>
<affiliation wicri:level="3"><nlm:aff id="awv010-AFF15">15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="awv010-AFF16">16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Liu, Yo Tsen" sort="Liu, Yo Tsen" uniqKey="Liu Y" first="Yo-Tsen" last="Liu">Yo-Tsen Liu</name>
<affiliation wicri:level="3"><nlm:aff id="awv010-AFF15">15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="awv010-AFF16">16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF17">17 Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan</nlm:aff>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>17 Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF18">18 National Yang-Ming University School of Medicine, Taipei, Taiwan</nlm:aff>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>18 National Yang-Ming University School of Medicine, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Senderek, Jan" sort="Senderek, Jan" uniqKey="Senderek J" first="Jan" last="Senderek">Jan Senderek</name>
<affiliation wicri:level="3"><nlm:aff id="awv010-AFF19">19 Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>19 Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Weis, Joachim" sort="Weis, Joachim" uniqKey="Weis J" first="Joachim" last="Weis">Joachim Weis</name>
<affiliation wicri:level="3"><nlm:aff id="awv010-AFF20">20 Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>20 Institute of Neuropathology, RWTH Aachen University Hospital, Aachen</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Den Bergh, Peter" sort="Van Den Bergh, Peter" uniqKey="Van Den Bergh P" first="Peter" last="Van Den Bergh">Peter Van Den Bergh</name>
<affiliation wicri:level="3"><nlm:aff id="awv010-AFF21">21 Centre de Référence Neuromusculaire, Cliniques universitaires St-Luc, Université de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>21 Centre de Référence Neuromusculaire, Cliniques universitaires St-Luc, Université de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Merrill, Shana L" sort="Merrill, Shana L" uniqKey="Merrill S" first="Shana L." last="Merrill">Shana L. Merrill</name>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF22">22 Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>22 Department of Neurology, University of Pennsylvania, Philadelphia, PA</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Reilly, Mary M" sort="Reilly, Mary M" uniqKey="Reilly M" first="Mary M." last="Reilly">Mary M. Reilly</name>
<affiliation wicri:level="3"><nlm:aff id="awv010-AFF15">15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="awv010-AFF16">16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<affiliation wicri:level="3"><nlm:aff id="awv010-AFF15">15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>15 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="awv010-AFF16">16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>16 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Grossman, Murray" sort="Grossman, Murray" uniqKey="Grossman M" first="Murray" last="Grossman">Murray Grossman</name>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF22">22 Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>22 Department of Neurology, University of Pennsylvania, Philadelphia, PA</wicri:regionArea>
<wicri:noRegion>PA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Scherer, Steven S" sort="Scherer, Steven S" uniqKey="Scherer S" first="Steven S." last="Scherer">Steven S. Scherer</name>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF22">22 Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>22 Department of Neurology, University of Pennsylvania, Philadelphia, PA</wicri:regionArea>
<wicri:noRegion>PA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name>
<affiliation wicri:level="4"><nlm:aff id="awv010-AFF1">1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="awv010-AFF2">2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF3">3 Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>3 Department of Neurology, Antwerp University Hospital, Antwerpen</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Dyck, Peter J" sort="Dyck, Peter J" uniqKey="Dyck P" first="Peter J." last="Dyck">Peter J. Dyck</name>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF4">4 Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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</affiliation>
</author>
<author><name sortKey="Klein, Christopher J" sort="Klein, Christopher J" uniqKey="Klein C" first="Christopher J." last="Klein">Christopher J. Klein</name>
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<country xml:lang="fr">États-Unis</country>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF6">6 Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN, USA</nlm:aff>
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<wicri:noRegion>Mayo Clinic Rochester MN</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="awv010-AFF23">23 Department of Medical Genetics, Mayo Clinic Rochester MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>23 Department of Medical Genetics, Mayo Clinic Rochester MN</wicri:regionArea>
<wicri:noRegion>Mayo Clinic Rochester MN</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Brain</title>
<idno type="ISSN">0006-8950</idno>
<idno type="eISSN">1460-2156</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Baets <italic>et al.</italic>
 expand the clinical spectrum of hereditary sensory and autonomic neuropathy type 1E (HSAN1E) by studying nine newly identified kinships, and reveal a potential pathogenic mechanism for causative <italic>DNMT1</italic>
 mutations. Mutant DNMT1 proteins form aggresomes in the cytoplasm, suggesting that aggresome-induced autophagy may contribute to disease pathogenesis.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Belgique</li>
<li>Japon</li>
<li>Nouvelle-Zélande</li>
<li>Royaume-Uni</li>
<li>Taïwan</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Bavière</li>
<li>Californie</li>
<li>District de Cologne</li>
<li>District de Haute-Bavière</li>
<li>Grand Londres</li>
<li>Province d'Anvers</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Région de Bruxelles-Capitale</li>
<li>Région flamande</li>
</region>
<settlement><li>Aix-la-Chapelle</li>
<li>Anvers</li>
<li>Bruxelles</li>
<li>Londres</li>
<li>Munich</li>
</settlement>
<orgName><li>Université d'Anvers</li>
</orgName>
</list>
<tree><country name="Belgique"><region name="Région flamande"><name sortKey="Baets, Jonathan" sort="Baets, Jonathan" uniqKey="Baets J" first="Jonathan" last="Baets">Jonathan Baets</name>
</region>
<name sortKey="Baets, Jonathan" sort="Baets, Jonathan" uniqKey="Baets J" first="Jonathan" last="Baets">Jonathan Baets</name>
<name sortKey="Baets, Jonathan" sort="Baets, Jonathan" uniqKey="Baets J" first="Jonathan" last="Baets">Jonathan Baets</name>
<name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name>
<name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name>
<name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name>
<name sortKey="Mademan, Ines" sort="Mademan, Ines" uniqKey="Mademan I" first="Inès" last="Mademan">Inès Mademan</name>
<name sortKey="Mademan, Ines" sort="Mademan, Ines" uniqKey="Mademan I" first="Inès" last="Mademan">Inès Mademan</name>
<name sortKey="Van Den Bergh, Peter" sort="Van Den Bergh, Peter" uniqKey="Van Den Bergh P" first="Peter" last="Van Den Bergh">Peter Van Den Bergh</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="Duan, Xiaohui" sort="Duan, Xiaohui" uniqKey="Duan X" first="Xiaohui" last="Duan">Xiaohui Duan</name>
</noRegion>
<name sortKey="Beadell, Noah C" sort="Beadell, Noah C" uniqKey="Beadell N" first="Noah C." last="Beadell">Noah C. Beadell</name>
<name sortKey="Botuyan, Maria Victoria" sort="Botuyan, Maria Victoria" uniqKey="Botuyan M" first="Maria-Victoria" last="Botuyan">Maria-Victoria Botuyan</name>
<name sortKey="Deleon, Jessica" sort="Deleon, Jessica" uniqKey="Deleon J" first="Jessica" last="Deleon">Jessica Deleon</name>
<name sortKey="Dyck, Peter J" sort="Dyck, Peter J" uniqKey="Dyck P" first="Peter J." last="Dyck">Peter J. Dyck</name>
<name sortKey="Grossman, Murray" sort="Grossman, Murray" uniqKey="Grossman M" first="Murray" last="Grossman">Murray Grossman</name>
<name sortKey="Khoury, Julie" sort="Khoury, Julie" uniqKey="Khoury J" first="Julie" last="Khoury">Julie Khoury</name>
<name sortKey="Klein, Christopher J" sort="Klein, Christopher J" uniqKey="Klein C" first="Christopher J." last="Klein">Christopher J. Klein</name>
<name sortKey="Klein, Christopher J" sort="Klein, Christopher J" uniqKey="Klein C" first="Christopher J." last="Klein">Christopher J. Klein</name>
<name sortKey="Klein, Christopher J" sort="Klein, Christopher J" uniqKey="Klein C" first="Christopher J." last="Klein">Christopher J. Klein</name>
<name sortKey="Mer, Georges" sort="Mer, Georges" uniqKey="Mer G" first="Georges" last="Mer">Georges Mer</name>
<name sortKey="Merrill, Shana L" sort="Merrill, Shana L" uniqKey="Merrill S" first="Shana L." last="Merrill">Shana L. Merrill</name>
<name sortKey="Scherer, Steven S" sort="Scherer, Steven S" uniqKey="Scherer S" first="Steven S." last="Scherer">Steven S. Scherer</name>
<name sortKey="Seeley, William W" sort="Seeley, William W" uniqKey="Seeley W" first="William W." last="Seeley">William W. Seeley</name>
<name sortKey="Smith, Gordon" sort="Smith, Gordon" uniqKey="Smith G" first="Gordon" last="Smith">Gordon Smith</name>
<name sortKey="Worrell, Gregory A" sort="Worrell, Gregory A" uniqKey="Worrell G" first="Gregory A." last="Worrell">Gregory A. Worrell</name>
<name sortKey="Wu, Yanhong" sort="Wu, Yanhong" uniqKey="Wu Y" first="Yanhong" last="Wu">Yanhong Wu</name>
</country>
<country name="Nouvelle-Zélande"><noRegion><name sortKey="Mcgrath, Nicole M" sort="Mcgrath, Nicole M" uniqKey="Mcgrath N" first="Nicole M." last="Mcgrath">Nicole M. Mcgrath</name>
</noRegion>
</country>
<country name="Japon"><noRegion><name sortKey="Hojo, Kaori" sort="Hojo, Kaori" uniqKey="Hojo K" first="Kaori" last="Hojo">Kaori Hojo</name>
</noRegion>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Laura, Matilde" sort="Laura, Matilde" uniqKey="Laura M" first="Matilde" last="Laura">Matilde Laura</name>
</region>
<name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<name sortKey="Laura, Matilde" sort="Laura, Matilde" uniqKey="Laura M" first="Matilde" last="Laura">Matilde Laura</name>
<name sortKey="Liu, Yo Tsen" sort="Liu, Yo Tsen" uniqKey="Liu Y" first="Yo-Tsen" last="Liu">Yo-Tsen Liu</name>
<name sortKey="Liu, Yo Tsen" sort="Liu, Yo Tsen" uniqKey="Liu Y" first="Yo-Tsen" last="Liu">Yo-Tsen Liu</name>
<name sortKey="Reilly, Mary M" sort="Reilly, Mary M" uniqKey="Reilly M" first="Mary M." last="Reilly">Mary M. Reilly</name>
<name sortKey="Reilly, Mary M" sort="Reilly, Mary M" uniqKey="Reilly M" first="Mary M." last="Reilly">Mary M. Reilly</name>
</country>
<country name="Taïwan"><noRegion><name sortKey="Liu, Yo Tsen" sort="Liu, Yo Tsen" uniqKey="Liu Y" first="Yo-Tsen" last="Liu">Yo-Tsen Liu</name>
</noRegion>
<name sortKey="Liu, Yo Tsen" sort="Liu, Yo Tsen" uniqKey="Liu Y" first="Yo-Tsen" last="Liu">Yo-Tsen Liu</name>
</country>
<country name="Allemagne"><region name="Bavière"><name sortKey="Senderek, Jan" sort="Senderek, Jan" uniqKey="Senderek J" first="Jan" last="Senderek">Jan Senderek</name>
</region>
<name sortKey="Weis, Joachim" sort="Weis, Joachim" uniqKey="Weis J" first="Joachim" last="Weis">Joachim Weis</name>
</country>
</tree>
</affiliations>
</record>

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Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

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