Article
The enhancement of activity rescues the establishment of Mecp2 null neuronal phenotypes.
EMBO molecular medicine - 9 Apr 2021
Scaramuzza Linda, De Rocco Giuseppina, Desiato Genni, Cobolli Gigli Clementina, Chiacchiaretta Martina, Mirabella Filippo, Pozzi Davide, De Simone Marco, Conforti Paola, Pagani Massimiliano, Benfenati Fabio, Cesca Fabrizia, Bedogni Francesco, Landsberger Nicoletta
Abstract excerpt
MECP2 mutations cause Rett syndrome (RTT), a severe and progressive neurodevelopmental disorder mainly affecting females. Although RTT patients exhibit delayed onset of symptoms, several evidences demonstrate that MeCP2 deficiency alters early development of the brain. Indeed, during early maturation, Mecp2 null cortical neurons display widespread transcriptional changes, reduced activity, and defective...
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