Article
MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome.
PloS one - 1 Jan 2016
Signorini Cinzia, De Felice Claudio, Leoncini Silvia, Møller Rikke S, Zollo Gloria, Buoni Sabrina, Cortelazzo Alessio, Guerranti Roberto, Durand Thierry, Ciccoli Lucia, D'Esposito Maurizio, Ravn Kirstine, Hayek Joussef
Abstract excerpt
Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2) gene expression. A relationship between MECP2 loss-of-function mutations and oxidative stress has been previously documented in RTT patients and murine models. To date, no data on oxidative stress have been reported for the MECP2 gain-of-function mutations in...
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