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| HAL : hal-00714965, version 1 |
| DOI : 10.111/j.1749-6632.2012.06611.x |
| Fiche détaillée |  Récupérer au format |
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| Anals of The New York Academy of Sciences 1259 (2012) 121-125 |
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| The role of oxidative stress in Rett syndrome: an overview |
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| Claudio De Felice 1Cinzia Signorini 2 |
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| (2012) |
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| The main cause of Rett syndrome (RTT), a pervasive development disorder almost exclusively affecting females, is a mutation in the methyl-CpG binding protein 2 (MeCP2) gene. To date, no cure for RTT exists, although disease reversibility has been demonstrated in animal models. Emerging evidence from our and other laboratories indicates a potential role of oxidative stress (OS) in RTT. This review examines the current state of the knowledge on the role of OS in explaining the natural history, genotype-phenotype correlation, and clinical heterogeneity of the human disease. Biochemical evidence of OS appears to be related to neurological symptom severity, mutation type, and clinical presentation. These findings pave the way for potential new genetic downstreamtherapeutic strategies aimed at improving patient quality of life. Further efforts in the near future are needed for investigating the yet unexplored "black box" between the MeCP2 gene mutation and subsequent OS derangement. |
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| 1 : | Neonatal Intensive Care Unit |
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Azienda Ospedaliera Universitaria Senese |
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| 2 : | Dipartimento di Medicina Molecolare e dello Sviluppo |
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University of Siena |
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| 3 : | Institut des Biomolécules Max Mousseron (IBMM) |
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CNRS : UMR5247 – Université Montpellier I – Université Montpellier II - Sciences et techniques |
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| 4 : | Department of Evolutionary Biology |
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University of Ferrara |
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| 5 : | Department of Food and Nutrition |
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Kyung Hee University |
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| 6 : | Child Neuropsychiatry Unit |
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University Hospital AOUS |
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| Domaine | : | Chimie/Chimie organique |
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| Rett syndrome – MeCP2 – oxidative stress – isoprostanes |
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| hal-00714965, version 1 | |
| http://hal.archives-ouvertes.fr/hal-00714965 | |
| oai:hal.archives-ouvertes.fr:hal-00714965 | |
| Contributeur : Brigitte Carles | |
| Soumis le : Vendredi 6 Juillet 2012, 09:44:15 | |
| Dernière modification le : Vendredi 6 Juillet 2012, 09:44:15 | |
