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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

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

Identification of genes for X-linked intellectual disability

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Reference: Abstract: Functional studies of CDKL5 implicated in an X-linked intellectual disability syndrome with early onset epileptic encelopathy. We have shown that mutations in the X-linked gene CDKL5/STK9 are a significant cause of a severe neurodevelopmental disorder (previously called atypical Rett syndrome (RTT) or variant of RTT), which affects predominantly girls (Kalscheuer et al, Am … Read more

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