Role of MeCP2 in the proliferationand in the differentiation of the cerebral cortex

Reference: Project4 Abstract: Objective: the production of MeCP2 starts very early during development of the central nervous system; although at 14 days after conception the cerebral cortex of mice expressing high levels of MeCP2, the role of MeCP2 during these phases has so far been overlooked. it is our opinion that MeCP2 and in particular … Read more

Study of the action of the complex moderating ENA / VASP on synaptic defect induced by mutation of MeCP2 in neurons obtained from mice and induced pluripotent stem cells (iPSCs) derived from patients.

Reference: 1 Abstract: The central hypothesis that there is a tendency to evaluate this project is that the mechanisms that regulate actin polymerization-dependent proteins of the ENA / VASP are able to modulate the effects of the mutation of MeCP2. In the case of positive results, then you might investigate whether a similar phenomenon also … Read more

Clinical study of heterogeneity in a large cohort of patients with Rett syndrome using a molecular-biochemical approach.

Reference: 3 Abstract: Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder that has an incidence of 1:10,000 people are female. Despite the identification of three genes involved (MECP2, CDKL5 and FOXG1), the pathogenesis of the syndrome is not known to date. The study presented here aims to: deepen the existing knowledge base of … Read more

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