Poster Open Access
Maussion, Gilles; Rocha, Cecilia; Soubannier, Vincent
<?xml version='1.0' encoding='utf-8'?> <resource xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns="http://datacite.org/schema/kernel-4" xsi:schemaLocation="http://datacite.org/schema/kernel-4 http://schema.datacite.org/meta/kernel-4.1/metadata.xsd"> <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"><p>Fragile X syndrome is a form of syndromic autism whose genetic causes have been relatively well uncovered. It is<br> actually mainly caused by a CGG triplet expansion in the 5&rsquo; UTR sequence of FMR1 gene, affecting mostly men. FMR1<br> encodes a mRNA binding protein which is involved in the regulation of local translation at the synaptic level. The<br> mechanisms leading from such gene mutations to a neurodevelopmental disorder still need to be investigated. While<br> several studies have shown that the neuronal development is driven by cellular activity and connectivity, we aim to<br> further investigate the effect of FMR1 repression on the neuronal activity taking advantage of IPSC-derived neurons<br> from patient&rsquo;s cells. IPSC-derived neurons will be investigated through calcium imaging to characterized their pattern<br> of spontaneous activities, as well as their capability to respond to neurotransmitter through extra-synaptic receptors.<br> A multielectrode array approach is going to be used to analyse the overall network activities. Those studies should<br> provide further information on the impairment of activity-dependent neuronal development in Fragile X syndrome.</p></description> </descriptions> </resource>
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