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 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

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

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

Rett Syndrome and Hanefeld variant:analysis of the molecular pathways common to both diseases

Reference: Project5 Abstract: Rett syndrome and its variant “of Hanefeld” are caused by mutations that affect two different genes, respectively MeCP2 and CDKL5. The aim of this project is the systematic analysis of the gene expression profile of neurons lacking MeCP2 or CDKL5. From the comparison of the obtained data we can determine which pathways … Read more

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

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

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