Publications by authors named "Mathieu Massonot"
Article Synopsis
- Loss-of-function mutations in the CHD8 gene are linked to Autism Spectrum Disorders (ASD), leading to significant molecular and cellular changes relevant for developing new therapies.
- Synthetic SINEUP-CHD8, a type of long non-coding RNA, can increase the production of the CHD8 protein in cells lacking it, and reverse associated negative effects in cells from patients with CHD8 mutations.
- In zebrafish models, SINEUP-CHD8 not only alleviated symptoms caused by CHD8 suppression, like macrocephaly and excessive neuron production, but also suggests potential for RNA-based treatments for various neurodevelopmental disorders.
Individuals with mutations in present with gastrointestinal complaints, yet the underlying mechanisms are understudied. Here, using a stable constitutive mutant zebrafish model, we found that the loss of leads to a reduced number of vagal neural crest cells (NCCs), enteric neural and glial progenitors, emigrating from the neural tube, and that their early migration capability was altered. At later stages, although the intestinal colonization by NCCs was complete, we found the decreased numbers of both serotonin-producing enterochromaffin cells and NCC-derived serotonergic neurons, suggesting an intestinal hyposerotonemia in the absence of Furthermore, transcriptomic analyses revealed an altered expression of key receptors and enzymes in serotonin and acetylcholine signaling pathways.
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