Promising markers for the first early detection of Rett syndrome

Reference: Abstract: Rett syndrome (RTT) is a genetic disease that affects the little girl from her 6th month, causing disorders of the nervous system.ᅠIf for the moment there is no cure for the disease, early detection is important and can limit neurological damage related symptoms faster.ᅠResearchers at the Institute of Biomolecules Max Mousseron (1) (IBMM … Read more

Partnership research in biotechnology for health (BIOTECS) 2008 project�RETTcure – Modulators of bio-aminergic pathways for the treatment of Rett syndrome

Reference: ANRn.a.8-BIOTn.a.020 Abstract: Rett syndrome (RS) is a severe neurological disorder caused by a mutation in the MECP2 gene transcriptional repressor.�SR girls develop normally until 6-18 months later, they suffer neurological symptoms and severe respiratory ?irregularities.�So far no treatment is available.�Previously, using a mouse model of SR, we have shown that disruption of the respiratory … Read more

Modulators of bio-aminergic pathways for the treatment of Rett syndrome

Reference: ANRn.a.8-BIOTn.a.020 Abstract: Rett syndrome (RS) is a severe neurological disorder caused by a mutation in the MECP2 gene transcriptional repressor. SR girls develop normally until 6-18 months later, they suffer neurological symptoms and severe respiratory ?irregularities. So far no treatment is available. Previously, using a mouse model of SR, we have shown that disruption … Read more

Multiannual Programme for Research on Rare Diseases (MRAR) (MRAR) 2006 projectᅠRett therapy -Therapeutic approaches of Rett syndrome: development of human cell models and high-throughput screening of chemical molecules in order to identify new subtsances likely to induce readthrough of a stop codon

Reference: ANRn.a.6-MRARn.a.003 Abstract: Rett syndrome (RTT) is a neurodevelopmentale dominant X-linked disease affecting almost exclusively girls.ᅠSignificant progress was the discovery of mutations in the MECP2 gene in over 90% of RTT patients.ᅠIn recent years, we have developed a French consortium and determined the spectrum of mutations MECP2.ᅠWe have shown that the four most common MECP2 … Read more

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