October 21, 2019 Poster Open Access

Maussion, Gilles; Rocha, Cecilia; Soubannier, Vincent

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{
  "inLanguage": {
    "alternateName": "eng", 
    "@type": "Language", 
    "name": "English"
  }, 
  "description": "<p>Fragile X syndrome is a form of syndromic autism whose genetic causes have been relatively well uncovered. It is<br>\nactually mainly caused by a CGG triplet expansion in the 5&rsquo; UTR sequence of FMR1 gene, affecting mostly men. FMR1<br>\nencodes a mRNA binding protein which is involved in the regulation of local translation at the synaptic level. The<br>\nmechanisms leading from such gene mutations to a neurodevelopmental disorder still need to be investigated. While<br>\nseveral studies have shown that the neuronal development is driven by cellular activity and connectivity, we aim to<br>\nfurther investigate the effect of FMR1 repression on the neuronal activity taking advantage of IPSC-derived neurons<br>\nfrom patient&rsquo;s cells. IPSC-derived neurons will be investigated through calcium imaging to characterized their pattern<br>\nof spontaneous activities, as well as their capability to respond to neurotransmitter through extra-synaptic receptors.<br>\nA multielectrode array approach is going to be used to analyse the overall network activities. Those studies should<br>\nprovide further information on the impairment of activity-dependent neuronal development in Fragile X syndrome.</p>", 
  "license": "https://creativecommons.org/licenses/by/4.0/legalcode", 
  "creator": [
    {
      "affiliation": "MNI, McGill University", 
      "@type": "Person", 
      "name": "Maussion, Gilles"
    }, 
    {
      "affiliation": "MNI, McGill University", 
      "@type": "Person", 
      "name": "Rocha, Cecilia"
    }, 
    {
      "affiliation": "MNI, McGill University", 
      "@type": "Person", 
      "name": "Soubannier, Vincent"
    }
  ], 
  "url": "https://zenodo.org/record/3515460", 
  "datePublished": "2019-10-21", 
  "version": "V1.0", 
  "keywords": [
    "induced pluripotent stem cells", 
    "cortical neurons", 
    "Fragile X", 
    "Activity", 
    "organoids"
  ], 
  "@context": "https://schema.org/", 
  "identifier": "https://doi.org/10.5281/zenodo.3515460", 
  "@id": "https://doi.org/10.5281/zenodo.3515460", 
  "@type": "CreativeWork", 
  "name": "Characterization of the activity-dependent development of IPSC-derived neurons from Fragile X patients"
}