Article
Retention of Mitochondria in Mature Human Red Blood Cells as the Result of Autophagy Impairment in Rett Syndrome.
Scientific reports - 26 Sept 2017
Sbardella Diego, Tundo Grazia Raffaella, Campagnolo Luisa, Valacchi Giuseppe, Orlandi Augusto, Curatolo Paolo, Borsellino Giovanna, D'Esposito Maurizio, Ciaccio Chiara, Cesare Silvia Di, Pierro Donato Di, Galasso Cinzia, Santarone Marta Elena, Hayek Joussef, Coletta Massimiliano, Marini Stefano
Abstract excerpt
Rett Syndrome (RTT), which affects approximately 1:10.000 live births, is a X-linked pervasive neuro-developmental disorder which is caused, in the vast majority of cases, by a sporadic mutation in the Methyl-CpG-binding protein-2 (MeCP2) gene. This is a transcriptional activator/repressor with presumed pleiotropic activities. The broad tissue expression of MeCP2 suggests that it may be involved in several...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.