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Fragile X syndrome is a form of syndromic autism whose genetic causes have been relatively well uncovered. It is
\nactually mainly caused by a CGG triplet expansion in the 5’ UTR sequence of FMR1 gene, affecting mostly men. FMR1
\nencodes a mRNA binding protein which is involved in the regulation of local translation at the synaptic level. The
\nmechanisms leading from such gene mutations to a neurodevelopmental disorder still need to be investigated. While
\nseveral studies have shown that the neuronal development is driven by cellular activity and connectivity, we aim to
\nfurther investigate the effect of FMR1 repression on the neuronal activity taking advantage of IPSC-derived neurons
\nfrom patient’s cells. IPSC-derived neurons will be investigated through calcium imaging to characterized their pattern
\nof spontaneous activities, as well as their capability to respond to neurotransmitter through extra-synaptic receptors.
\nA multielectrode array approach is going to be used to analyse the overall network activities. Those studies should
\nprovide further information on the impairment of activity-dependent neuronal development in Fragile X syndrome.
SGC Open Notebooks
\r\n", "description": "SGC Open Notebooks", "page": "SGC Open Notebooks
\r\n", "title": "SGC Open Notebooks" }, "revision_id": 0, "slug": "sgc-opennotebook", "updated": "2017-12-07T17:07:01.244323+00:00" } ], "ids": [ "23286851-d31a-4dfe-9957-6de5a081d5bb" ] }, "id": "3515459", "pids": { "doi": { "client": "datacite", "identifier": "10.5281/zenodo.3515459", "provider": "datacite" } } }, "pids": { "doi": { "client": "datacite", "identifier": "10.5281/zenodo.3515460", "provider": "datacite" }, "oai": { "identifier": "oai:zenodo.org:3515460", "provider": "oai" } }, "revision_id": 5, "stats": { "all_versions": { "data_volume": 270462609.0, "downloads": 123, "unique_downloads": 115, "unique_views": 387, "views": 402 }, "this_version": { "data_volume": 270462609.0, "downloads": 123, "unique_downloads": 115, "unique_views": 387, "views": 402 } }, "status": "published", "updated": "2020-01-20T17:17:28.317188+00:00", "versions": { "index": 1, "is_latest": true } }