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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sci Rep
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2017
Pynciau:
Article
Mynediad Ar-lein: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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