<?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-04541653</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="2026-05-19T11:27:05+02:00"/>
      </publicationStmt>
      <sourceDesc>
        <p part="N">HAL API Platform</p>
      </sourceDesc>
    </fileDesc>
  </teiHeader>
  <text>
    <body>
      <listBibl>
        <biblFull>
          <titleStmt>
            <title xml:lang="en">Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1</title>
            <author role="aut">
              <persName>
                <forename type="first">Shanez</forename>
                <surname>Haouari</surname>
              </persName>
              <idno type="halauthorid">3123422-0</idno>
              <affiliation ref="#struct-53727"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Christian</forename>
                <forename type="middle">R</forename>
                <surname>Andres</surname>
              </persName>
              <email type="md5">571547f3eaa66eaa512a6cb890928393</email>
              <email type="domain">univ-tours.fr</email>
              <idno type="idhal" notation="string">christian-andres</idno>
              <idno type="idhal" notation="numeric">18504</idno>
              <idno type="halauthorid" notation="string">2498640-18504</idno>
              <idno type="IDREF">https://www.idref.fr/059894385</idno>
              <idno type="ORCID">https://orcid.org/0000-0002-5062-3156</idno>
              <affiliation ref="#struct-53727"/>
              <affiliation ref="#struct-179009"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Debora</forename>
                <surname>Lanznaster</surname>
              </persName>
              <email type="md5">cd18a3f005d9054e2cd22e0e1f16ec31</email>
              <email type="domain">univ-tours.fr</email>
              <idno type="idhal" notation="numeric">1073237</idno>
              <idno type="halauthorid" notation="string">2549629-1073237</idno>
              <idno type="ORCID">https://orcid.org/0000-0001-5911-3120</idno>
              <affiliation ref="#struct-53727"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Sylviane</forename>
                <surname>Marouillat</surname>
              </persName>
              <email type="md5">0275538c534346a35bfaf8f66e10b438</email>
              <email type="domain">univ-tours.fr</email>
              <idno type="idhal" notation="numeric">1384149</idno>
              <idno type="halauthorid" notation="string">1389012-1384149</idno>
              <idno type="IDREF">https://www.idref.fr/15266808X</idno>
              <idno type="ORCID">https://orcid.org/0000-0001-7918-9755</idno>
              <affiliation ref="#struct-53727"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Céline</forename>
                <surname>Brulard</surname>
              </persName>
              <idno type="halauthorid">1423136-0</idno>
              <affiliation ref="#struct-53727"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Audrey</forename>
                <surname>Dangoumau</surname>
              </persName>
              <idno type="idhal" notation="numeric">1373864</idno>
              <idno type="halauthorid" notation="string">1527422-1373864</idno>
              <idno type="ORCID">https://orcid.org/0000-0002-5038-1839</idno>
              <affiliation ref="#struct-53727"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Devina</forename>
                <surname>Ung</surname>
              </persName>
              <email type="md5">25a738ae705dc61d7efe9745274728c1</email>
              <email type="domain">gmail.com</email>
              <idno type="idhal" notation="string">devina-ung</idno>
              <idno type="idhal" notation="numeric">1290957</idno>
              <idno type="halauthorid" notation="string">3123424-1290957</idno>
              <affiliation ref="#struct-53727"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Charlotte</forename>
                <surname>Veyrat-Durebex</surname>
              </persName>
              <email type="md5">9f8136620c33fb364522243aedf80daf</email>
              <email type="domain">univ-tours.fr</email>
              <idno type="idhal" notation="numeric">1149938</idno>
              <idno type="halauthorid" notation="string">790771-1149938</idno>
              <idno type="ORCID">https://orcid.org/0000-0003-4512-2303</idno>
              <affiliation ref="#struct-53727"/>
              <affiliation ref="#struct-179009"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Frédéric</forename>
                <surname>Laumonnier</surname>
              </persName>
              <email type="md5">2b3bf6d8f11215df192de7bf879534a4</email>
              <email type="domain">univ-tours.fr</email>
              <idno type="idhal" notation="string">frederic-laumonnier</idno>
              <idno type="idhal" notation="numeric">13065</idno>
              <idno type="halauthorid" notation="string">415968-13065</idno>
              <idno type="ORCID">https://orcid.org/0000-0003-2567-0708</idno>
              <idno type="IDREF">https://www.idref.fr/085738026</idno>
              <affiliation ref="#struct-53727"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Hélène</forename>
                <surname>Blasco</surname>
              </persName>
              <email type="md5">fa462d49c2028c73aa61b2f33a8ef340</email>
              <email type="domain">univ-tours.fr</email>
              <idno type="idhal" notation="numeric">770152</idno>
              <idno type="halauthorid" notation="string">781339-770152</idno>
              <idno type="ORCID">https://orcid.org/0000-0001-6107-0035</idno>
              <idno type="IDREF">https://www.idref.fr/128057602</idno>
              <affiliation ref="#struct-53727"/>
              <affiliation ref="#struct-179009"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Philippe</forename>
                <surname>Couratier</surname>
              </persName>
              <email type="md5">9aca7c28ae9e3d61104ef3af0fa00907</email>
              <email type="domain">unilim.fr</email>
              <idno type="idhal" notation="string">couratierphilippe</idno>
              <idno type="idhal" notation="numeric">1042707</idno>
              <idno type="halauthorid" notation="string">526472-1042707</idno>
              <idno type="ORCID">https://orcid.org/0000-0001-9562-856X</idno>
              <idno type="VIAF">https://viaf.org/viaf/172769838</idno>
              <affiliation ref="#struct-300906"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Philippe</forename>
                <surname>Corcia</surname>
              </persName>
              <idno type="halauthorid">526473-0</idno>
              <affiliation ref="#struct-53727"/>
              <affiliation ref="#struct-179009"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Patrick</forename>
                <surname>Vourc’h</surname>
              </persName>
              <email type="md5">0aa1594ec84ef3efb48fda1031ae1101</email>
              <email type="domain">med.univ-tours.fr</email>
              <idno type="idhal" notation="string">patrick-vourch</idno>
              <idno type="idhal" notation="numeric">1215657</idno>
              <idno type="halauthorid" notation="string">1388984-1215657</idno>
              <idno type="ORCID">https://orcid.org/0000-0001-7960-8139</idno>
              <affiliation ref="#struct-53727"/>
              <affiliation ref="#struct-179009"/>
            </author>
            <editor role="depositor">
              <persName>
                <forename>Patrick</forename>
                <surname>Vourc'h</surname>
              </persName>
              <email type="md5">0aa1594ec84ef3efb48fda1031ae1101</email>
              <email type="domain">med.univ-tours.fr</email>
            </editor>
          </titleStmt>
          <editionStmt>
            <edition n="v1" type="current">
              <date type="whenSubmitted">2024-05-15 17:56:08</date>
              <date type="whenModified">2026-05-19 11:25:43</date>
              <date type="whenReleased">2024-05-21 15:59:29</date>
              <date type="whenProduced">2023-01-09</date>
              <date type="whenEndEmbargoed">2024-05-15</date>
              <ref type="file" target="https://hal.science/hal-04541653v1/document">
                <date notBefore="2024-05-15"/>
              </ref>
              <ref type="file" subtype="greenPublisher" n="1" target="https://hal.science/hal-04541653v1/file/ijms-24-01268.pdf" id="file-4576908-3969807">
                <date notBefore="2024-05-15"/>
              </ref>
              <ref type="externalLink" target="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9867363"/>
            </edition>
            <respStmt>
              <resp>contributor</resp>
              <name key="405346">
                <persName>
                  <forename>Patrick</forename>
                  <surname>Vourc'h</surname>
                </persName>
                <email type="md5">0aa1594ec84ef3efb48fda1031ae1101</email>
                <email type="domain">med.univ-tours.fr</email>
              </name>
            </respStmt>
          </editionStmt>
          <publicationStmt>
            <distributor>CCSD</distributor>
            <idno type="halId">hal-04541653</idno>
            <idno type="halUri">https://hal.science/hal-04541653</idno>
            <idno type="halBibtex">haouari:hal-04541653</idno>
            <idno type="halRefHtml">&lt;i&gt;International Journal of Molecular Sciences&lt;/i&gt;, 2023, 24 (2), pp.1268. &lt;a target="_blank" href="https://dx.doi.org/10.3390/ijms24021268"&gt;&amp;#x27E8;10.3390/ijms24021268&amp;#x27E9;&lt;/a&gt;</idno>
            <idno type="halRef">International Journal of Molecular Sciences, 2023, 24 (2), pp.1268. &amp;#x27E8;10.3390/ijms24021268&amp;#x27E9;</idno>
            <availability status="restricted">
              <licence target="https://about.hal.science/hal-authorisation-v1/">HAL Authorization<ref corresp="#file-4576908-3969807"/></licence>
            </availability>
          </publicationStmt>
          <seriesStmt>
            <idno type="stamp" n="INSERM">INSERM - Institut national de la santé et de la recherche médicale</idno>
            <idno type="stamp" n="UNIV-TOURS">Université François Rabelais</idno>
            <idno type="stamp" n="IBRAIN">Imaging Brain &amp; Neuropsychiatry</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">Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1</title>
                <author role="aut">
                  <persName>
                    <forename type="first">Shanez</forename>
                    <surname>Haouari</surname>
                  </persName>
                  <idno type="halauthorid">3123422-0</idno>
                  <affiliation ref="#struct-53727"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Christian</forename>
                    <forename type="middle">R</forename>
                    <surname>Andres</surname>
                  </persName>
                  <email type="md5">571547f3eaa66eaa512a6cb890928393</email>
                  <email type="domain">univ-tours.fr</email>
                  <idno type="idhal" notation="string">christian-andres</idno>
                  <idno type="idhal" notation="numeric">18504</idno>
                  <idno type="halauthorid" notation="string">2498640-18504</idno>
                  <idno type="IDREF">https://www.idref.fr/059894385</idno>
                  <idno type="ORCID">https://orcid.org/0000-0002-5062-3156</idno>
                  <affiliation ref="#struct-53727"/>
                  <affiliation ref="#struct-179009"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Debora</forename>
                    <surname>Lanznaster</surname>
                  </persName>
                  <email type="md5">cd18a3f005d9054e2cd22e0e1f16ec31</email>
                  <email type="domain">univ-tours.fr</email>
                  <idno type="idhal" notation="numeric">1073237</idno>
                  <idno type="halauthorid" notation="string">2549629-1073237</idno>
                  <idno type="ORCID">https://orcid.org/0000-0001-5911-3120</idno>
                  <affiliation ref="#struct-53727"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Sylviane</forename>
                    <surname>Marouillat</surname>
                  </persName>
                  <email type="md5">0275538c534346a35bfaf8f66e10b438</email>
                  <email type="domain">univ-tours.fr</email>
                  <idno type="idhal" notation="numeric">1384149</idno>
                  <idno type="halauthorid" notation="string">1389012-1384149</idno>
                  <idno type="IDREF">https://www.idref.fr/15266808X</idno>
                  <idno type="ORCID">https://orcid.org/0000-0001-7918-9755</idno>
                  <affiliation ref="#struct-53727"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Céline</forename>
                    <surname>Brulard</surname>
                  </persName>
                  <idno type="halauthorid">1423136-0</idno>
                  <affiliation ref="#struct-53727"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Audrey</forename>
                    <surname>Dangoumau</surname>
                  </persName>
                  <idno type="idhal" notation="numeric">1373864</idno>
                  <idno type="halauthorid" notation="string">1527422-1373864</idno>
                  <idno type="ORCID">https://orcid.org/0000-0002-5038-1839</idno>
                  <affiliation ref="#struct-53727"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Devina</forename>
                    <surname>Ung</surname>
                  </persName>
                  <email type="md5">25a738ae705dc61d7efe9745274728c1</email>
                  <email type="domain">gmail.com</email>
                  <idno type="idhal" notation="string">devina-ung</idno>
                  <idno type="idhal" notation="numeric">1290957</idno>
                  <idno type="halauthorid" notation="string">3123424-1290957</idno>
                  <affiliation ref="#struct-53727"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Charlotte</forename>
                    <surname>Veyrat-Durebex</surname>
                  </persName>
                  <email type="md5">9f8136620c33fb364522243aedf80daf</email>
                  <email type="domain">univ-tours.fr</email>
                  <idno type="idhal" notation="numeric">1149938</idno>
                  <idno type="halauthorid" notation="string">790771-1149938</idno>
                  <idno type="ORCID">https://orcid.org/0000-0003-4512-2303</idno>
                  <affiliation ref="#struct-53727"/>
                  <affiliation ref="#struct-179009"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Frédéric</forename>
                    <surname>Laumonnier</surname>
                  </persName>
                  <email type="md5">2b3bf6d8f11215df192de7bf879534a4</email>
                  <email type="domain">univ-tours.fr</email>
                  <idno type="idhal" notation="string">frederic-laumonnier</idno>
                  <idno type="idhal" notation="numeric">13065</idno>
                  <idno type="halauthorid" notation="string">415968-13065</idno>
                  <idno type="ORCID">https://orcid.org/0000-0003-2567-0708</idno>
                  <idno type="IDREF">https://www.idref.fr/085738026</idno>
                  <affiliation ref="#struct-53727"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Hélène</forename>
                    <surname>Blasco</surname>
                  </persName>
                  <email type="md5">fa462d49c2028c73aa61b2f33a8ef340</email>
                  <email type="domain">univ-tours.fr</email>
                  <idno type="idhal" notation="numeric">770152</idno>
                  <idno type="halauthorid" notation="string">781339-770152</idno>
                  <idno type="ORCID">https://orcid.org/0000-0001-6107-0035</idno>
                  <idno type="IDREF">https://www.idref.fr/128057602</idno>
                  <affiliation ref="#struct-53727"/>
                  <affiliation ref="#struct-179009"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Philippe</forename>
                    <surname>Couratier</surname>
                  </persName>
                  <email type="md5">9aca7c28ae9e3d61104ef3af0fa00907</email>
                  <email type="domain">unilim.fr</email>
                  <idno type="idhal" notation="string">couratierphilippe</idno>
                  <idno type="idhal" notation="numeric">1042707</idno>
                  <idno type="halauthorid" notation="string">526472-1042707</idno>
                  <idno type="ORCID">https://orcid.org/0000-0001-9562-856X</idno>
                  <idno type="VIAF">https://viaf.org/viaf/172769838</idno>
                  <affiliation ref="#struct-300906"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Philippe</forename>
                    <surname>Corcia</surname>
                  </persName>
                  <idno type="halauthorid">526473-0</idno>
                  <affiliation ref="#struct-53727"/>
                  <affiliation ref="#struct-179009"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Patrick</forename>
                    <surname>Vourc’h</surname>
                  </persName>
                  <email type="md5">0aa1594ec84ef3efb48fda1031ae1101</email>
                  <email type="domain">med.univ-tours.fr</email>
                  <idno type="idhal" notation="string">patrick-vourch</idno>
                  <idno type="idhal" notation="numeric">1215657</idno>
                  <idno type="halauthorid" notation="string">1388984-1215657</idno>
                  <idno type="ORCID">https://orcid.org/0000-0001-7960-8139</idno>
                  <affiliation ref="#struct-53727"/>
                  <affiliation ref="#struct-179009"/>
                </author>
              </analytic>
              <monogr>
                <idno type="halJournalId" status="VALID">877092</idno>
                <idno type="issn">1661-6596</idno>
                <idno type="eissn">1422-0067</idno>
                <title level="j">International Journal of Molecular Sciences</title>
                <imprint>
                  <publisher>MDPI</publisher>
                  <biblScope unit="volume">24</biblScope>
                  <biblScope unit="issue">2</biblScope>
                  <biblScope unit="pp">1268</biblScope>
                  <date type="datePub">2023-01-09</date>
                </imprint>
              </monogr>
              <idno type="doi">10.3390/ijms24021268</idno>
              <idno type="pubmed">36674783</idno>
              <idno type="pubmedcentral">PMC9867363</idno>
            </biblStruct>
          </sourceDesc>
          <profileDesc>
            <langUsage>
              <language ident="en">English</language>
            </langUsage>
            <textClass>
              <keywords scheme="author">
                <term xml:lang="en">ALS</term>
                <term xml:lang="en">HECW1</term>
                <term xml:lang="en">amyotrophic lateral sclerosis</term>
                <term xml:lang="en">genetic</term>
                <term xml:lang="en">ubiquitin</term>
              </keywords>
              <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>The ubiquitin pathway, one of the main actors regulating cell signaling processes and cellular protein homeostasis, is directly involved in the pathophysiology of amyotrophic lateral sclerosis (ALS). We first analyzed, by a next-generation sequencing (NGS) strategy, a series of genes of the ubiquitin pathway in two cohorts of familial and sporadic ALS patients comprising 176 ALS patients. We identified several pathogenic variants in different genes of this ubiquitin pathway already described in ALS, such as FUS, CCNF and UBQLN2. Other variants of interest were discovered in new genes studied in this disease, in particular in the HECW1 gene. We have shown that the HECT E3 ligase called NEDL1, encoded by the HECW1 gene, is expressed in neurons, mainly in their somas. Its overexpression is associated with increased cell death in vitro and, very interestingly, with the cytoplasmic mislocalization of TDP-43, a major protein involved in ALS. These results give new support for the role of the ubiquitin pathway in ALS, and suggest further studies of the HECW1 gene and its protein NEDL1 in the pathophysiology of ALS.</p>
            </abstract>
          </profileDesc>
        </biblFull>
      </listBibl>
    </body>
    <back>
      <listOrg type="structures">
        <org type="laboratory" xml:id="struct-53727" status="VALID">
          <idno type="IdRef">228879965</idno>
          <idno type="RNSR">201220230S</idno>
          <idno type="ROR">https://ror.org/01eem7c55</idno>
          <orgName>Imaging, Brain &amp; Neuropsychiatry</orgName>
          <orgName type="acronym">iBraiN</orgName>
          <date type="start">1988-01-01</date>
          <desc>
            <address>
              <addrLine>10 Bd TonnelléBât. Thérèse Planiol37032 Tours Cedex 1</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">https://ibrain.univ-tours.fr/</ref>
          </desc>
          <listRelation>
            <relation name="UMR U1253" active="#struct-300298" type="direct"/>
            <relation name="UMR U1253" active="#struct-303623" type="direct"/>
          </listRelation>
        </org>
        <org type="institution" xml:id="struct-179009" status="VALID">
          <idno type="ROR">https://ror.org/00jpq0w62</idno>
          <orgName>Centre Hospitalier Régional Universitaire de Tours</orgName>
          <orgName type="acronym">CHRU Tours</orgName>
          <desc>
            <address>
              <addrLine>Centre Hospitalier Régional Universitaire de Tours2 Boulevard Tonnellé 37044 Tours cedex 9</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">https://www.chu-tours.fr/</ref>
          </desc>
        </org>
        <org type="institution" xml:id="struct-300906" status="VALID">
          <idno type="ROR">https://ror.org/01tc2d264</idno>
          <orgName>CHU Limoges</orgName>
          <desc>
            <address>
              <addrLine>Centre Hospitalier Universitaire Dupuytren - 2 avenue Martin Luther King 87042 LIMOGES</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.chu-limoges.fr/</ref>
          </desc>
        </org>
        <org type="institution" xml:id="struct-300298" status="VALID">
          <idno type="IdRef">026404478</idno>
          <idno type="ISNI">0000000121608742</idno>
          <idno type="ROR">https://ror.org/02wwzvj46</idno>
          <orgName>Université de Tours</orgName>
          <orgName type="acronym">UT</orgName>
          <date type="start">1970-12-17</date>
          <desc>
            <address>
              <addrLine>60 rue du Plat d'Étain, 37020 Tours cedex 1</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.univ-tours.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>
      </listOrg>
    </back>
  </text>
</TEI>