Second human pseudoautosomal region: biology, genes and implications for the pathogenesis of Rett syndrome

Reference: E.0869 Abstract: Our interest is to clarify the biology of the second human pseudoautosomal region, located at the end of long arm of the X chromosome and its involvment in genetic pathologies. Genes located in this region show different transcriptional behaviour, escaping or not the X inactivation. Such effects could be likely caused by … 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

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