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

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

Neurobiology of Rett’s syndrome: cellular etiology and experimental therapeutic strategies in an animal model

Reference: GGP05236 Abstract: Rett syndrome is a major cause of mental retardation, second only to the incidence of Down syndrome, and occurs almost exclusively in females. This disease manifests itself after a period of apparently normal development and causes growth retardation, severe psychomotor and autistic-like behaviors . The majority of cases of Rett syndrome is … Read more

Identification of neuronal substrates of Rett syndrome and validation of therapies in preclinical models: a genomic, morphofunctional, and behavioural analysis in mouse models and patients

Reference: GGP09196 Abstract: Rett syndrome is a leading cause of mental retardation, second only to Down syndrome, which affects almost exclusively girls. This disease becomes manifest after a period of apparently normal development and causes growth retardation, severe psychomotor impairment and autistic behaviour. The majority of cases of Rett syndrome are caused by mutations in … Read more

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

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

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 20οΎ–25% of mentally retarded males. The number … Read more

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