Unravelling the Rett syndrome: effects of mecp2 mutations on synaptic function

Reference: GGP13187 Abstract: Rett syndrome (RS) is a disease of the nervous system that manifests itself in baby girls at about 6-18 months of age. It is characterized by the onset of a complex set of neurological signs, including mental retardation, autism, epilepsy. In most cases RS is caused by the loss of function of … Read more

Rett Syndrome and Hanefeld variant:analysis of the molecular pathways common to both diseases

Reference: Project5 Abstract: Rett syndrome and its variant “of Hanefeld” are caused by mutations that affect two different genes, respectively MeCP2 and CDKL5. The aim of this project is the systematic analysis of the gene expression profile of neurons lacking MeCP2 or CDKL5. From the comparison of the obtained data we can determine which pathways … 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

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