2008.

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

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Reference: GGP05119 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 6-36 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

Pharmacological approaches to restore bdnf levels in cellular and animal models of the Rett syndrome

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Reference: GGP08258 Abstract: Rett syndrome (RTT) is the major cause of mental retardation in female children. This pathology is caused by mutations affecting the MECP2 gene located on chromosome X, that in normal conditions regulates the expression of numerous genes. Recently, it has been found that BDNF is one of the target genes of MeCP2 … Read more

Cell lines and DNA bank of Rett syndrome and other X-linked mental retardation

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Reference: GTF05005 Abstract: Mental retardation (MR) is the most frequent cause of serious handicap in humans and an important health-care problem throughout the world. It is estimated to occur in about 1-3% of the general population. It is calculated that X-linked mental retardation (XLMR) may account for about 20ﾖ25% of mentally retarded males. The number … Read more

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