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

Determination of the role of MeCP2in adult life

Reference: PROJECT2 Abstract: The objective of this project is to determine whether the role of MeCP2 runs out during the early stages of development organism, once induced neuronal maturation, or whether it may also be important in advanced stages of life, possibly exerting a maintenance of different biological activities. The transgenic model we have created … Read more

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