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

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

Genetic diagnosis Rett syndrome: a first step to drug therapy. Study on the involved and genes genotype-phenotype correlation

Reference: Armstrong Abstract: Determine the pathogenicity of the mutations and polymorphisms detected in genes MECP2, CDKL5, FOXG1, NTNG1 i BDNF responsible for RTT in all patients clinically diagnosed as RTT and determine the clinical expression in patients (genotype-phenotype correlation). Objectives: – To study the genotype of patients with RTT you have not found a point … Read more

Role of MeCP2 in the proliferationand in the differentiation of the cerebral cortex

Reference: Project4 Abstract: Objective: the production of MeCP2 starts very early during development of the central nervous system; although at 14 days after conception the cerebral cortex of mice expressing high levels of MeCP2, the role of MeCP2 during these phases has so far been overlooked. it is our opinion that MeCP2 and in particular … Read more

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