Molecular pathology and functional interactions of the genes CDKL5 and MECP2: molecular and clinical consequences of the alteration of a neuro-biological networks

Reference: Universit? degli Studi dell’Insubria Abstract: n.a PROJECT DETAILS  beginning: 2010. end: 2011. Country of research: Italy Counry of funding source: Italy Funding organization: Fondazione Caripl Financing: PRIVATE FUNDERS – 260 000 € hyperlink

Identification of Novel Neuronal Substrates of Rett Syndrome: A Morphofunctional Analysis of GABAergic Interneurons in Mouse Models

Reference: Maurizio Giustetto Abstract: The majority of cases of Rett syndrome are caused by mutations in the gene encoding MECP2, a protein which binds DNA and regulates the expression of other genes, including that of brain?derived neurotrophic factor (BDNF), a major neurotrophin involved in brain development. No effective cure is available for this disease. The … 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

By continuing to use the site, you agree to the use of cookies. more information

The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.

Close