pre-clinical drug development/drug delivery

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

ANTARES: Understanding and treating neuronal trafficking defects in Mecp2-pathies

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Reference: Abstract: Mecp2-pathies represent an emerging field among severe X-linked mental retardation syndromes. Rett Syndrome (RTT) represents the prototype of these pathologies and accounts for 10% of the cases of profound intellectual disability in females. The causative gene is the methyl CpG-binding protein 2 (MECP2) gene, encoding a multifunctional protein thought to ﾫmodulateﾫ the expression … 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

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

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 … Read more

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