2009.

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

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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

Congenital Rett syndrome: cellular and mouse models for the study of foxg1 impact on forebrain neurogenesis

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Reference: GGP09117 Abstract: Rett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. Mutations in the MECP2 gene have long represented the only known cause of Rett. Recently, we demonstrated that mutations in a different gene, FOXG1, are responsible for the most severe form of … Read more

Study of synaptic and neuronal physiological alterations in the MeCP2 gene deficient animals models of Rett syndrome

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Reference: ANRn.a.6-NEURn.a.003 Abstract: PROJECT SUMMARY – Scientific Background and Objectives Mutations in the gene encoding the protein MeCP2, a transcriptional regulator binding methylated DNA, are causing neurological disorders – including Rett syndrome (RTT) – characterized by an apparently brain development normal. The mice with truncated versions of MeCP2 show similar neurological deficits in patients RTT. … Read more

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