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

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

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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

Congenital Rett syndrome: cellular and mouse models for the study of foxg1 impact on forebrain neurogenesis

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Reference: GGP09117 Abstract: Rett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. Mutations in the MECP2 gene have long represented the only known cause of Rett. Recently, we demonstrated that mutations in a different gene, FOXG1, are responsible for the most severe form of … Read more

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