2012.

Creating an experimental modelreproducing a pathogenic mutation of MeCP2

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Reference: Project3 Abstract: Objective: the majority of animal models of the syndrome Rett available today represent only part of what that actually happens in patients, because most patients are not deprived of the entire gene, but only a small portion of it, or even have change only one amino acid. This project has set itself … 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

Identification of neuronal substrates of Rett syndrome and validation of therapies in preclinical models: a genomic, morphofunctional, and behavioural analysis in mouse models and patients

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Reference: GGP09196 Abstract: Rett syndrome is a leading cause of mental retardation, second only to Down syndrome, which affects almost exclusively girls. This disease becomes manifest after a period of apparently normal development and causes growth retardation, severe psychomotor impairment and autistic behaviour. The majority of cases of Rett syndrome are caused by mutations in … Read more

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

Preclinical evaluation of a protein produced by Escherichia coli as a novel therapeutic approach for Rett Syndrome

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Reference: 2 Abstract: In a recent study, we have reported that the administration of a toxin derived from bacteria, for brevity called CNF1, improved in a clear manner some of the behavioral alterations observed in transgenic mice, a model for Rett syndrome. CNF1 The result is also able to counteract some morphological abnormalities in the … Read more

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