gene expression profile

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

Replication and translation of epigenetic information

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Reference: SPP 1129 Abstract: Methyl-cytosine binding proteins (MeCPs) play a central role in the mediation of epigenetic effects. They bind to methylated sites in the DNA, recruit histone deacetylases (HDACs9 which may then cause chromatin condensation and transcriptional silencing. We have previously studied the dynamics of DNA replication in living mammalian cells using fluorescence labeling … Read more

Regulation of the neurotrophic factor BDNF gene expression in health and nervous system diseases

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Reference: ETF8844 Abstract: Neurotrophin brain-derived neurotrophic factor (BDNF) is a growth factor that has important roles in the development and functioning of nervous system by promoting the survival, differentiation and synaptic plasticity of specific neuronal populations. BDNF has received particular interest for its dysregulation in nervous system disorders. Decreases of BDNF and its receptor TrkB … Read more

MeCP2 as a genome-wide modulator: the renewal of an old story.

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Reference: Abstract: Since the discovery of MeCP2, its functions have attracted the interest of generations of molecular biologists. Its function as a transducer of DNA methylation, the major post-biosynthetic modification found throughout genomes, and its association with the neurodevelopmental disease Rett syndrome highlight its central role as a transcriptional regulator, and, at the same time, … 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

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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.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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