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Partial rescue of Rett syndrome by omega-3 polyunsaturated fatty acids (PUFAs) oil

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Reference: Abstract: Evidence of enhanced oxidative stress (O.S.) and lipid peroxidation has been reported in patients with Rett syndrome (RTT), a relatively rare neurodevelopmental disorder progressing in 4-stages, and mainly caused by loss-of-function mutations in the methyl-CpG-binding protein 2. No effective therapy for preventing or arresting the neurologic regression in the disease in its various … Read more

Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome

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Reference: Abstract: Spatial Organisation of DNA into chromatin profoundly affects gene expression and function. The recent association of genes controlling chromatin structure to human pathologies resulted in a better comprehension of the interplay between regulation and function. Among many chromatin disorders we will discuss Rett and immunodeficiency, centromeric instability and facial anomalies (ICF) syndromes. Both … Read more

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