animal model creation/study

Molecular pathologies and functional interactions of the X-linked MECP2 and CDKL5 genes

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Reference: Charlotte Kilstrup-Nielsen Abstract: Rett syndrome (RTT) is a severe pediatric neurological disorder that, because of its incidence, represents the most common genetic cause of severe intellectual disability in girls worldwide. Several RTT variants have been described ranging from milder forms with a later age of onset to conditions with very early severe epileptic manifestations. … Read more

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

Neurobiology of Rett’s syndrome: cellular etiology and experimental therapeutic strategies in an animal model

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Reference: GGP05236 Abstract: Rett syndrome is a major cause of mental retardation, second only to the incidence of Down syndrome, and occurs almost exclusively in females. This disease manifests itself after a period of apparently normal development and causes growth retardation, severe psychomotor and autistic-like behaviors . The majority of cases of Rett syndrome is … Read more

Identification of Novel Neuronal Substrates of Rett Syndrome: A Morphofunctional Analysis of GABAergic Interneurons in Mouse Models

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Reference: Maurizio Giustetto Abstract: The majority of cases of Rett syndrome are caused by mutations in the gene encoding MECP2, a protein which binds DNA and regulates the expression of other genes, including that of brain?derived neurotrophic factor (BDNF), a major neurotrophin involved in brain development. No effective cure is available for this disease. The … Read more

Creating an experimental modelreproducing a pathogenic mutation of MeCP2

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Reference: Project3 Abstract: Objective: the majority of animal models of the syndrome Rett available today represent only part of what that actually happens in patients, because most patients are not deprived of the entire gene, but only a small portion of it, or even have change only one amino acid. This project has set itself … Read more

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