<?xml version="1.0" encoding="utf-8"?>
<TEI xmlns="http://www.tei-c.org/ns/1.0" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns:hal="http://hal.archives-ouvertes.fr/" xmlns:gml="http://www.opengis.net/gml/3.3/" xmlns:gmlce="http://www.opengis.net/gml/3.3/ce" version="1.1" xsi:schemaLocation="http://www.tei-c.org/ns/1.0 http://api.archives-ouvertes.fr/documents/aofr-sword.xsd">
  <teiHeader>
    <fileDesc>
      <titleStmt>
        <title>HAL TEI export of hal-03339524</title>
      </titleStmt>
      <publicationStmt>
        <distributor>CCSD</distributor>
        <availability status="restricted">
          <licence target="https://creativecommons.org/publicdomain/zero/1.0/">CC0 1.0 - Universal</licence>
        </availability>
        <date when="2026-05-14T14:51:26+02:00"/>
      </publicationStmt>
      <sourceDesc>
        <p part="N">HAL API Platform</p>
      </sourceDesc>
    </fileDesc>
  </teiHeader>
  <text>
    <body>
      <listBibl>
        <biblFull>
          <titleStmt>
            <title xml:lang="en">Daunorubicin reduces MBNL1 titration by expanded CUG repeat RNA and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy</title>
            <author role="aut">
              <persName>
                <forename type="first">M.</forename>
                <surname>Chakraborty</surname>
              </persName>
              <idno type="halauthorid">2280457-0</idno>
              <affiliation ref="#struct-1055383"/>
              <affiliation ref="#struct-303680"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Chantal</forename>
                <surname>Sellier</surname>
              </persName>
              <idno type="halauthorid">872184-0</idno>
              <affiliation ref="#struct-93800"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Michel</forename>
                <surname>Ney</surname>
              </persName>
              <idno type="halauthorid">36828-0</idno>
              <affiliation ref="#struct-93800"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Pascal</forename>
                <surname>Villa</surname>
              </persName>
              <email type="md5">7b4a5c8b919869dacbb01715c9c0ec5e</email>
              <email type="domain">unistra.fr</email>
              <idno type="idhal" notation="numeric">1160592</idno>
              <idno type="halauthorid" notation="string">418645-1160592</idno>
              <idno type="ORCID">https://orcid.org/0000-0003-3466-4852</idno>
              <idno type="IDREF">https://www.idref.fr/225881519</idno>
              <affiliation ref="#struct-529729"/>
              <affiliation ref="#struct-492381"/>
              <affiliation ref="#struct-300418"/>
              <affiliation ref="#struct-199013"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Nicolas</forename>
                <surname>Charlet-Berguerand</surname>
              </persName>
              <email type="md5">6cce7a4730810f43bc4868eca888403f</email>
              <email type="domain">igbmc.fr</email>
              <idno type="idhal" notation="string">nicolas-charlet-berguerand</idno>
              <idno type="idhal" notation="numeric">748210</idno>
              <idno type="halauthorid" notation="string">5590-748210</idno>
              <idno type="RESEARCHERID">http://www.researcherid.com/rid/I-6727-2016</idno>
              <idno type="ORCID">https://orcid.org/0000-0002-4423-4920</idno>
              <idno type="IDREF">https://www.idref.fr/089052471</idno>
              <idno type="VIAF">https://viaf.org/viaf/204855011</idno>
              <idno type="ISNI">http://isni.org/isni/0000000431783968</idno>
              <idno type="GOOGLE SCHOLAR">https://scholar.google.fr/citations?user=QgKTCYcAAAAJ</idno>
              <affiliation ref="#struct-93800"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">R.</forename>
                <surname>Artero</surname>
              </persName>
              <idno type="halauthorid">2280458-0</idno>
              <affiliation ref="#struct-303680"/>
              <affiliation ref="#struct-1055383"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">B.</forename>
                <surname>Llamusi</surname>
              </persName>
              <idno type="halauthorid">2280459-0</idno>
              <affiliation ref="#struct-303680"/>
              <affiliation ref="#struct-1055383"/>
            </author>
            <editor role="depositor">
              <persName>
                <forename>NICOLAS</forename>
                <surname>CHARLET BERGUERAND</surname>
              </persName>
              <email type="md5">6cce7a4730810f43bc4868eca888403f</email>
              <email type="domain">igbmc.fr</email>
            </editor>
            <funder ref="#projanr-55004"/>
          </titleStmt>
          <editionStmt>
            <edition n="v1" type="current">
              <date type="whenSubmitted">2021-09-09 15:10:17</date>
              <date type="whenModified">2025-08-22 14:44:02</date>
              <date type="whenReleased">2021-09-09 15:10:17</date>
              <date type="whenProduced">2018-04-23</date>
              <ref type="externalLink" target="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963859"/>
            </edition>
            <respStmt>
              <resp>contributor</resp>
              <name key="11870">
                <persName>
                  <forename>NICOLAS</forename>
                  <surname>CHARLET BERGUERAND</surname>
                </persName>
                <email type="md5">6cce7a4730810f43bc4868eca888403f</email>
                <email type="domain">igbmc.fr</email>
              </name>
            </respStmt>
          </editionStmt>
          <publicationStmt>
            <distributor>CCSD</distributor>
            <idno type="halId">hal-03339524</idno>
            <idno type="halUri">https://hal.science/hal-03339524</idno>
            <idno type="halBibtex">chakraborty:hal-03339524</idno>
            <idno type="halRefHtml">&lt;i&gt;Disease Models &amp; Mechanisms&lt;/i&gt;, 2018, &lt;a target="_blank" href="https://dx.doi.org/10.1242/dmm.032557"&gt;&amp;#x27E8;10.1242/dmm.032557&amp;#x27E9;&lt;/a&gt;</idno>
            <idno type="halRef">Disease Models &amp; Mechanisms, 2018, &amp;#x27E8;10.1242/dmm.032557&amp;#x27E9;</idno>
            <availability status="restricted"/>
          </publicationStmt>
          <seriesStmt>
            <idno type="stamp" n="INSERM">INSERM - Institut national de la santé et de la recherche médicale</idno>
            <idno type="stamp" n="CNRS">CNRS - Centre national de la recherche scientifique</idno>
            <idno type="stamp" n="IGBMC" corresp="INSERM">Institut Génétique de Biologie Moléculaire et Cellulaire</idno>
            <idno type="stamp" n="UNIV-STRASBG">Université de Strasbourg</idno>
            <idno type="stamp" n="SITE-ALSACE">Archive ouverte du site Alsace</idno>
            <idno type="stamp" n="ANR">ANR</idno>
            <idno type="stamp" n="UNIVOAK">UNIVOAK</idno>
          </seriesStmt>
          <notesStmt>
            <note type="audience" n="2">International</note>
            <note type="popular" n="0">No</note>
            <note type="peer" n="1">Yes</note>
          </notesStmt>
          <sourceDesc>
            <biblStruct>
              <analytic>
                <title xml:lang="en">Daunorubicin reduces MBNL1 titration by expanded CUG repeat RNA and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy</title>
                <author role="aut">
                  <persName>
                    <forename type="first">M.</forename>
                    <surname>Chakraborty</surname>
                  </persName>
                  <idno type="halauthorid">2280457-0</idno>
                  <affiliation ref="#struct-1055383"/>
                  <affiliation ref="#struct-303680"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Chantal</forename>
                    <surname>Sellier</surname>
                  </persName>
                  <idno type="halauthorid">872184-0</idno>
                  <affiliation ref="#struct-93800"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Michel</forename>
                    <surname>Ney</surname>
                  </persName>
                  <idno type="halauthorid">36828-0</idno>
                  <affiliation ref="#struct-93800"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Pascal</forename>
                    <surname>Villa</surname>
                  </persName>
                  <email type="md5">7b4a5c8b919869dacbb01715c9c0ec5e</email>
                  <email type="domain">unistra.fr</email>
                  <idno type="idhal" notation="numeric">1160592</idno>
                  <idno type="halauthorid" notation="string">418645-1160592</idno>
                  <idno type="ORCID">https://orcid.org/0000-0003-3466-4852</idno>
                  <idno type="IDREF">https://www.idref.fr/225881519</idno>
                  <affiliation ref="#struct-529729"/>
                  <affiliation ref="#struct-492381"/>
                  <affiliation ref="#struct-300418"/>
                  <affiliation ref="#struct-199013"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Nicolas</forename>
                    <surname>Charlet-Berguerand</surname>
                  </persName>
                  <email type="md5">6cce7a4730810f43bc4868eca888403f</email>
                  <email type="domain">igbmc.fr</email>
                  <idno type="idhal" notation="string">nicolas-charlet-berguerand</idno>
                  <idno type="idhal" notation="numeric">748210</idno>
                  <idno type="halauthorid" notation="string">5590-748210</idno>
                  <idno type="RESEARCHERID">http://www.researcherid.com/rid/I-6727-2016</idno>
                  <idno type="ORCID">https://orcid.org/0000-0002-4423-4920</idno>
                  <idno type="IDREF">https://www.idref.fr/089052471</idno>
                  <idno type="VIAF">https://viaf.org/viaf/204855011</idno>
                  <idno type="ISNI">http://isni.org/isni/0000000431783968</idno>
                  <idno type="GOOGLE SCHOLAR">https://scholar.google.fr/citations?user=QgKTCYcAAAAJ</idno>
                  <affiliation ref="#struct-93800"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">R.</forename>
                    <surname>Artero</surname>
                  </persName>
                  <idno type="halauthorid">2280458-0</idno>
                  <affiliation ref="#struct-303680"/>
                  <affiliation ref="#struct-1055383"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">B.</forename>
                    <surname>Llamusi</surname>
                  </persName>
                  <idno type="halauthorid">2280459-0</idno>
                  <affiliation ref="#struct-303680"/>
                  <affiliation ref="#struct-1055383"/>
                </author>
              </analytic>
              <monogr>
                <idno type="halJournalId" status="VALID">82879</idno>
                <idno type="issn">1754-8403</idno>
                <idno type="eissn">1754-8411</idno>
                <title level="j">Disease Models &amp; Mechanisms</title>
                <imprint>
                  <publisher> Cambridge Company of Biologists</publisher>
                  <date type="datePub">2018-04-23</date>
                </imprint>
              </monogr>
              <idno type="doi">10.1242/dmm.032557</idno>
              <idno type="pubmedcentral">PMC5963859</idno>
            </biblStruct>
          </sourceDesc>
          <profileDesc>
            <langUsage>
              <language ident="en">English</language>
            </langUsage>
            <textClass>
              <classCode scheme="halDomain" n="sdv">Life Sciences [q-bio]</classCode>
              <classCode scheme="halTypology" n="ART">Journal articles</classCode>
              <classCode scheme="halOldTypology" n="ART">Journal articles</classCode>
              <classCode scheme="halTreeTypology" n="ART">Journal articles</classCode>
            </textClass>
            <abstract xml:lang="en">
              <p>Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder caused by expression of mutant DMPK transcripts containing expanded CUG repeats. Pathogenic RNA sequesters the muscleblind-like (MBNL) proteins, causing alterations of RNA metabolism. Cardiac dysfunction represents the second most common cause of death in DM1 patients. However, the contribution of MBNL titration in DM1 cardiac dysfunction is unclear. We overexpressed Muscleblind (Mbl), Drosophila MBNL orthologue, in cardiomyocytes of DM1 model flies and observed a rescue of heart dysfunctions, which are characteristic of these model flies and resemble cardiac defects observed in patients. We also identified a drug, Daunorubicin hydrochloride, that directly binds to CUG repeats and alleviates Mbl titration in Drosophila DM1 cardiomyocytes, resulting into missplicing rescue and cardiac function recovery. These results demonstrate the relevance of Mbl titration by expanded CUG RNA in cardiac dysfunctions in DM1, and highlight the potential of strategies aimed at inhibit this protein-RNA interaction to recover normal cardiac function.</p>
            </abstract>
          </profileDesc>
        </biblFull>
      </listBibl>
    </body>
    <back>
      <listOrg type="structures">
        <org type="institution" xml:id="struct-1055383" status="INCOMING">
          <orgName>Biomedical Research Institute [Valencia, Spain]</orgName>
          <orgName type="acronym">INCLIVA</orgName>
          <desc>
            <address>
              <country key="ES"/>
            </address>
          </desc>
        </org>
        <org type="institution" xml:id="struct-303680" status="VALID">
          <idno type="ROR">https://ror.org/043nxc105</idno>
          <orgName>Universitat de València = University of Valencia = Universidade de Valencia</orgName>
          <orgName type="acronym">UV</orgName>
          <desc>
            <address>
              <addrLine>Av. de Blasco Ibáñez, 13, 46010 València</addrLine>
              <country key="ES"/>
            </address>
            <ref type="url">http://www.uv.es</ref>
          </desc>
        </org>
        <org type="laboratory" xml:id="struct-93800" status="VALID">
          <idno type="IdRef">155263749</idno>
          <idno type="ISNI">0000 0004 0638 2716</idno>
          <idno type="RNSR">200112491C</idno>
          <idno type="ROR">https://ror.org/0015ws592</idno>
          <idno type="Wikidata">Q3152004</idno>
          <orgName>Institut de Génétique et de Biologie Moléculaire et Cellulaire</orgName>
          <orgName type="acronym">IGBMC</orgName>
          <date type="start">2009-01-01</date>
          <desc>
            <address>
              <addrLine>Parc D'Innovation 1 Rue Laurent Fries - BP 10142 67404 Illkirch Cedex</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.igbmc.fr/</ref>
          </desc>
          <listRelation>
            <relation name="UMRS964" active="#struct-199013" type="direct"/>
            <relation name="U1258" active="#struct-303623" type="direct"/>
            <relation name="UMR7104" active="#struct-441569" type="direct"/>
          </listRelation>
        </org>
        <org type="laboratory" xml:id="struct-529729" status="VALID">
          <idno type="IdRef">157771806</idno>
          <idno type="RNSR">201420842Y</idno>
          <idno type="ROR">https://ror.org/052pqt102</idno>
          <idno type="Wikidata">Q51781429</idno>
          <orgName>Plateforme de chimie biologique intégrative de Strasbourg</orgName>
          <orgName type="acronym">PCBiS</orgName>
          <desc>
            <address>
              <addrLine>École supérieure de biotechnologie de Strasbourg (ESBS), Pôle API 300 boulevard Sébastien Brant - CS 10413, 67412 Illkirch Cedex</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.pcbis.fr/</ref>
          </desc>
          <listRelation>
            <relation active="#struct-199013" type="direct"/>
            <relation name="UAR3286 / UMS3286" active="#struct-441569" type="direct"/>
          </listRelation>
        </org>
        <org type="laboratory" xml:id="struct-492381" status="VALID">
          <orgName>Centre de recherche du médicament Medalis - Drug Discovery Center [LabEx]</orgName>
          <desc>
            <address>
              <addrLine>Institut de biologie moléculaire et cellulaire (IBMC) - 15 rue René Descartes - Strasbourg-Esplanade</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://medalis.unistra.fr/</ref>
          </desc>
          <listRelation>
            <relation active="#struct-199013" type="direct"/>
          </listRelation>
        </org>
        <org type="regrouplaboratory" xml:id="struct-300418" status="VALID">
          <orgName>Ecole Supérieure de Biotechnologie de Strasbourg</orgName>
          <orgName type="acronym">ESBS</orgName>
          <desc>
            <address>
              <country key="FR"/>
            </address>
          </desc>
          <listRelation>
            <relation active="#struct-199013" type="direct"/>
          </listRelation>
        </org>
        <org type="institution" xml:id="struct-199013" status="VALID">
          <idno type="IdRef">131056549</idno>
          <idno type="ROR">https://ror.org/00pg6eq24</idno>
          <orgName>Université de Strasbourg</orgName>
          <orgName type="acronym">UNISTRA</orgName>
          <desc>
            <address>
              <addrLine>4 rue Blaise Pascal - CS 90032 - 67081 Strasbourg cedex</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">https://www.unistra.fr/</ref>
          </desc>
        </org>
        <org type="institution" xml:id="struct-303623" status="VALID">
          <idno type="IdRef">026388278</idno>
          <idno type="ROR">https://ror.org/02vjkv261</idno>
          <orgName>Institut National de la Santé et de la Recherche Médicale</orgName>
          <orgName type="acronym">INSERM</orgName>
          <desc>
            <address>
              <addrLine>101, rue de Tolbiac, 75013 Paris</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.inserm.fr</ref>
          </desc>
        </org>
        <org type="regroupinstitution" xml:id="struct-441569" status="VALID">
          <idno type="IdRef">02636817X</idno>
          <idno type="ISNI">0000000122597504</idno>
          <idno type="ROR">https://ror.org/02feahw73</idno>
          <orgName>Centre National de la Recherche Scientifique</orgName>
          <orgName type="acronym">CNRS</orgName>
          <date type="start">1939-10-19</date>
          <desc>
            <address>
              <country key="FR"/>
            </address>
            <ref type="url">https://www.cnrs.fr/</ref>
          </desc>
        </org>
      </listOrg>
      <listOrg type="projects">
        <org type="anrProject" xml:id="projanr-55004" status="VALID">
          <idno type="anr">ANR-10-LABX-0034</idno>
          <orgName>Medalis</orgName>
          <desc>Medalis Drug Discovery Center</desc>
          <date type="start">2010</date>
        </org>
      </listOrg>
    </back>
  </text>
</TEI>