Poster Open Access

Characterization of the activity-dependent development of IPSC-derived neurons from Fragile X patients

Maussion, Gilles; Rocha, Cecilia; Soubannier, Vincent


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  <identifier identifierType="DOI">10.5281/zenodo.3515460</identifier>
  <creators>
    <creator>
      <creatorName>Maussion, Gilles</creatorName>
      <givenName>Gilles</givenName>
      <familyName>Maussion</familyName>
      <affiliation>MNI, McGill University</affiliation>
    </creator>
    <creator>
      <creatorName>Rocha, Cecilia</creatorName>
      <givenName>Cecilia</givenName>
      <familyName>Rocha</familyName>
      <affiliation>MNI, McGill University</affiliation>
    </creator>
    <creator>
      <creatorName>Soubannier, Vincent</creatorName>
      <givenName>Vincent</givenName>
      <familyName>Soubannier</familyName>
      <affiliation>MNI, McGill University</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Characterization of the activity-dependent development of IPSC-derived neurons from Fragile X patients</title>
  </titles>
  <publisher>Zenodo</publisher>
  <publicationYear>2019</publicationYear>
  <subjects>
    <subject>induced pluripotent stem cells</subject>
    <subject>cortical neurons</subject>
    <subject>Fragile X</subject>
    <subject>Activity</subject>
    <subject>organoids</subject>
  </subjects>
  <dates>
    <date dateType="Issued">2019-10-21</date>
  </dates>
  <language>en</language>
  <resourceType resourceTypeGeneral="Text">Poster</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://zenodo.org/record/3515460</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsVersionOf">10.5281/zenodo.3515459</relatedIdentifier>
    <relatedIdentifier relatedIdentifierType="URL" relationType="IsPartOf">https://zenodo.org/communities/sgc-opennotebook</relatedIdentifier>
  </relatedIdentifiers>
  <version>V1.0</version>
  <rightsList>
    <rights rightsURI="https://creativecommons.org/licenses/by/4.0/legalcode">Creative Commons Attribution 4.0 International</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">&lt;p&gt;Fragile X syndrome is a form of syndromic autism whose genetic causes have been relatively well uncovered. It is&lt;br&gt;
actually mainly caused by a CGG triplet expansion in the 5&amp;rsquo; UTR sequence of FMR1 gene, affecting mostly men. FMR1&lt;br&gt;
encodes a mRNA binding protein which is involved in the regulation of local translation at the synaptic level. The&lt;br&gt;
mechanisms leading from such gene mutations to a neurodevelopmental disorder still need to be investigated. While&lt;br&gt;
several studies have shown that the neuronal development is driven by cellular activity and connectivity, we aim to&lt;br&gt;
further investigate the effect of FMR1 repression on the neuronal activity taking advantage of IPSC-derived neurons&lt;br&gt;
from patient&amp;rsquo;s cells. IPSC-derived neurons will be investigated through calcium imaging to characterized their pattern&lt;br&gt;
of spontaneous activities, as well as their capability to respond to neurotransmitter through extra-synaptic receptors.&lt;br&gt;
A multielectrode array approach is going to be used to analyse the overall network activities. Those studies should&lt;br&gt;
provide further information on the impairment of activity-dependent neuronal development in Fragile X syndrome.&lt;/p&gt;</description>
  </descriptions>
</resource>
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