pre-clinical drug development/drug delivery

Understanding and rescuing respiratory arrhythmias in a mouse model of Rett Syndrome

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Reference: Ana Abdala Sheikh Abstract: Breathing is the most important process controlled by the brain; it is a rhythm that happens non-stop from birth until death. It constantly changes to allow for other behaviors such as speech, singing, exercising, eating, drinking, coughing. Frequent periods of breath holding are a very common feature of Rett syndrome. … Read more

Pharmacological treatment of respiratory disorders in a mouse model of Rett syndrome

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Reference: Paton, Julian Abstract: Breathing abnormalities consisting of rapid deep respiration followed by cessation of breathing and an irregular interval between breaths are a common and distressing feature of Rett syndrome (RTT). Using a mouse model we have shown that injections of a compound that boosts the brain concentration of the inhibitory neurotransmitter ? amino-butyric … Read more

Pharmacological approaches to restore bdnf levels in cellular and animal models of the Rett syndrome

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Reference: GGP08258 Abstract: Rett syndrome (RTT) is the major cause of mental retardation in female children. This pathology is caused by mutations affecting the MECP2 gene located on chromosome X, that in normal conditions regulates the expression of numerous genes. Recently, it has been found that BDNF is one of the target genes of MeCP2 … Read more

Alteration of the mechanisms of oxidative stress and their treatment in an animal model of Rett syndromehe action of the complex moderating ENA / VASP on synaptic defect induced by mutation of MeCP2 in neurons obtained from mice and induced pluripotent stem cells (iPSCs) derived from patients.

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Reference: 2 Abstract: This project was inspired by a series of preliminary results obtained by the proposer: It has established a unique relationship between mutations in the gene, the severity of the phenotype and the levels of some markers ZO, such as F2 isoprostanes and F4 and iron not bound to protein (NPBI) in plasma … 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

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