Congenital Rett syndrome: cellular and mouse models for the study of foxg1 impact on forebrain neurogenesis

Reference: GGP09117 Abstract: Rett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. Mutations in the MECP2 gene have long represented the only known cause of Rett. Recently, we demonstrated that mutations in a different gene, FOXG1, are responsible for the most severe form of … Read more

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

Identification of Novel Neuronal Substrates of Rett Syndrome: A Morphofunctional Analysis of GABAergic Interneurons in Mouse Models

Reference: Maurizio Giustetto Abstract: The majority of cases of Rett syndrome are caused by mutations in the gene encoding MECP2, a protein which binds DNA and regulates the expression of other genes, including that of brain?derived neurotrophic factor (BDNF), a major neurotrophin involved in brain development. No effective cure is available for this disease. The … 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

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