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Rett syndrome gene cartography

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Reference: ORPHA 8709 Abstract: PROJECT DETAILS  beginning: n.a end: n.a Country of research: France Counry of funding source: France Funding organization: GIS-Institut des Maladies Rares Financing: PRIVATE FUNDERS – 0 € hyperlink

Identification and characterization of proteins that, interacting with mecp2, could be involved in Rett syndrome

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Reference: GP0072Y01 Abstract: Rett syndrome (RTT) is a genetic disease that occurs almost exclusively in females, with an estimated prevalence of 1 in 10.000-15.000 female births. After normal development up to the age of 6-18 months, follows a period of regression of motor and mental abilities. Affected patients develop loss of speech and purposeful hand … Read more

Search and identification of new genetic or epigenetic causes of neurodevelopmental disorders involved in chromatin remodeling

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Reference: 2. Dra. Sonia Mayo de Andros Abstract: This research project aims to contribute to understanding of the genetic etiology and diagnosis of neurodevelopmental disorders by in silico analysis for the selection of new candidate genes or by looking for genetic abnormalities or markers of epigenetic alterations that can affect both genes and involved in … Read more

Clinical study of heterogeneity in a large cohort of patients with Rett syndrome using a molecular-biochemical approach.

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Reference: 3 Abstract: Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder that has an incidence of 1:10,000 people are female. Despite the identification of three genes involved (MECP2, CDKL5 and FOXG1), the pathogenesis of the syndrome is not known to date. The study presented here aims to: deepen the existing knowledge base of … Read more

Alteration of the mechanisms of oxidative stress and their treatment in an animal model of Rett syndromehe 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: 2 Abstract: This project was inspired by a series of preliminary results obtained by the proposer: It has established a unique relationship between mutations in the gene, the severity of the phenotype and the levels of some markers ZO, such as F2 isoprostanes and F4 and iron not bound to protein (NPBI) in plasma … Read more

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