Italy

Determination of the role of MeCP2in adult life

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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

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

Role of MeCP2 in the proliferationand in the differentiation of the cerebral cortex

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Reference: Project4 Abstract: Objective: the production of MeCP2 starts very early during development of the central nervous system; although at 14 days after conception the cerebral cortex of mice expressing high levels of MeCP2, the role of MeCP2 during these phases has so far been overlooked. it is our opinion that MeCP2 and in particular … 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

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

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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

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