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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614985/
https://www.ncbi.nlm.nih.gov/pubmed/28951555
http://dx.doi.org/10.1038/s41598-017-12069-0