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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Vydáno v:Sci Rep
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2017
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Article
On-line přístup: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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