France

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

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

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

Understand and address the deficits of neuronal transport in MeCP2-pathies

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Reference: ANR-12n.a.003-BSV1 Abstract: The MeCP2-pathies represent a field of particularly dynamic and competitive research in the field of intellectual disabilities related to the X chromosome Rett syndrome (RTT) is the prototype of these diseases and account for 10% of cases of mental retardation of genetic origin in women. The causative gene is Mecp2 encoding a … Read more

White – SVSE 1 – Physiology, pathophysiology, public health (White SVSE 1) 2012: Project ANTARES – Understand and address the deficits of neuronal transport in MeCP2-pathies

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Reference: ANR-12n.a.003-BSV1 Abstract: The MeCP2-pathies represent a field of particularly dynamic and competitive research in the field of intellectual disabilities related to the X chromosomeﾠRett syndrome (RTT) is the prototype of these diseases and account for 10% of cases of mental retardation of genetic origin in women.ﾠThe causative gene is Mecp2 encoding a multifunctional protein … Read more

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

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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

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