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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

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

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

Identification of Genetic Risk Factors for Complex Disorders by Studying Patients with Associated Balanced Chromosomal Rearragements

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Reference: NGFN2 Abstract: Associations between BCRs and disorders reported in the questionnaire are considered as probably real if the disorder co-segregates with the BCR in a family; if one breakpoint is located at a previously identified locus for the respective disorder; or if several unrelated patients with the same disorder have a breakpoint in the … Read more

Joint project: European Rett Syndrome Network (EURORETT).ﾠShare TU Darmstadt.ﾠ

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Reference: 01GM0811 TIB Abstract: Although the biochemical function of the proteins involved in this disorder is known, the pathophysiological mechanisms are still mysterious, stressing the need for synergy and multidisciplinarity. Because Rett syndrome could be reversible, it is a priority to combine all possible approaches understand disease mechanisms. This could allow the rapid translation of … Read more

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