gene expression profile

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

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

Characterization of genetic and epigenetic mechanisms that are causative elements and / or amending the SR

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Reference: 2_Dr. S. Russian – Laboratory of Medical Genetics Institute Auxologico Milan Abstract: At the laboratories of the Institute of Molecular Genetics Auxologico Italian since 2001 is carried out diagnostics and research on Rett Syndrome. Over the years we have collected a series of 97 patients with a genetic defect known and many without defined … Read more

A Mouse Model of CDKL5 Rett syndrome

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Reference: Amendola, Elena Abstract: Rett syndrome is a neurodevelopmental disorder most commonly caused by mutations in the MECP2 gene. However, some persons with Rett do not carry mutations in MECP2 and recently mutations in the cyclin dependent kinase-like 5 (CDKL5) gene have been found in persons having a Rett-like disorder that includes seizures during the … Read more

Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of neuropsychiatric phenotypes that overlap

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Reference: ORPHA319013 Abstract: Title: Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of overlapping neuropsychiatric phenotypes. Description: Since the discovery of MECP2 gene as mainly responsible for Rett Syndrome (SR) numerous studies have shown that there are mutations in this gene that does not produce the “classic”, but also in women … Read more

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