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

ANIMAL MODELS OF NEUROPSYCHIATRIC DISORDERS

Reference: 1Z01MH002179-22 Abstract: Relevant to our research interests in animal models of neuropsychiatric diseases, our Laboratory of Behavioral Neuroscience investigates the behavioral phenotypes of transgenic and knockout mice with mutations in genes expressed in brain pathways involved in neuropsychiatric disorders. We developed and refined a multi-tiered strategy for mouse behavioral phenotyping that is widely used … Read more

ANIMAL MODELS OF NEUROPSYCHIATRIC DISORDERS

Reference: 1Z01MH002179-23 Abstract: Relevant to our research interests in animal models of neuropsychiatric diseases, our Laboratory of Behavioral Neuroscience investigates the behavioral phenotypes of transgenic and knockout mice with mutations in genes expressed in brain pathways involved in neuropsychiatric disorders. We developed and refined a multi-tiered strategy for mouse behavioral phenotyping that is widely used … Read more

The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients.

Reference: Abstract: Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurological disorder, which affects mostly females. It is associated with mutations of the MECP2 gene, codifying for a methyl-CpG DNA binding protein of the MBDs family, sharing the common Methyl Binding Domain. MeCP2 binds single methylated CpG pair and brings transcriptional silencing to the … Read more

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