2010.

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

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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

New animal models for understandingof the role of MeCP2 and the development of approachespharmacological

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Reference: PROJECT1 Abstract: Objective: confirmed the reversibility of the syndrome Rett, a possible therapeutic approach could result by pharmacological modulation of molecular pathways regulated by MeCP2. In this project we will remove MeCP2 from cerebral cortex and hippocampus, areas in which they reside most of the cognitive and affective, to determine the “MeCP2 target genes” … Read more

Multifactorial analysis of the movement and the way in Rett syndrome

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Reference: 4 Abstract: Rett syndrome (RTT) is a rare and complex factors for multiproblematicit? disabling. One of the main and most serious is the progressive loss of control of locomotor and gait, often affected by the presence of involuntary movements, dystonia, ataxia and spasticity. Only rarely treatment strategies used in the neuromotor pathologies infant may … 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.

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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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