animal model creation/study

Studies on the clinical spectrum, pathophysiology and treatment of Rett syndrome

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Reference: Abstract: Rett syndrome is a leading cause of mental retardation in girls and is caused by mutations in the MECP2 gene.ﾠIn addition, changes in the MECP2 gene isolated in patients with non-specific mental retardation, autism, and severe neonatal encephalopathy are detectable.ﾠThe function of the MECP2 protein, its role in methylation and its interactions with … Read more

ROLE OF EXCITATION AND INHIBITION IN RETT SYNDROME

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Reference: 1F31MH078678n.a.1A2 Abstract: MeCP2 is a transcriptional repressor critical for normal neurological function. Rett syndrome (RTT) is a progressive neurodevelopmental disease caused by predominantly loss of function mutations in the X-linked gene encoding the transcriptional repressor, methyl-CpG-binding protein 2 (MECP2) genes. Classic RTT patients exhibit a spectrum of neurological phenotypes that include tremors, ataxia, seizures, … Read more

Neuroscience, neurology and psychiatry (NEURO) 2006 project�ANR-MeCP2synapse -Study of synaptic and neuronal physiological alterations in the MeCP2 gene deficient animals models of Rett syndrome

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Reference: ANRn.a.6-NEURn.a.003 Abstract: PROJECT SUMMARY – Scientific Background and Objectives�Mutations in the gene encoding the protein MeCP2, a transcriptional regulator binding methylated DNA, are causing neurological disorders – including Rett syndrome (RTT) – characterized by an apparently brain development normal.�The mice with truncated versions of MeCP2 show similar neurological deficits in patients RTT.�Deficits in dendritic … Read more

ROLE OF EXCITATION AND INHIBITION IN RETT SYNDROME

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Reference: 5F31MH078678n.a.2 Abstract: MeCP2 is a transcriptional repressor critical for normal neurological function. Rett syndrome (RTT) is a progressive neurodevelopmental disease caused by predominantly loss of function mutations in the X-linked gene encoding the transcriptional repressor, methyl-CpG-binding protein 2 (MECP2) genes. Classic RTT patients exhibit a spectrum of neurological phenotypes that include tremors, ataxia, seizures, … Read more

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