Mitochondrial dysfunction and cytosolic redox imbalance in Rett syndrome

Reference: Michael Müller Abstract: Rett patients and mouse models of Rett syndrome, i.e. mice carrying mutations in the gene coding for the transcriptional regulator MeCP2, suffer from highly irregular breathing with temporary arrest of breathing, which gives rise to repeated episodes of reduced systemic oxygen supply (hypoxia). Yet, instead of desensitization or neuronal adaptation to … Read more

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

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

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