Retention of Mitochondria in Mature Human Red Blood Cells as the Result of Autophagy Impairment in Rett Syndrome

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 pres...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5614985/
https://ncbi.nlm.nih.gov/pubmed/28951555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-12069-0
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