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Biomolecules, Volume 13, Issue 4
April 2023 - 140 articles
Cover Story: Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by motor and cognitive disabilities, the pathogenetic mechanisms of which remain to be fully elucidated. RTT is caused by mutations in MECP2, an epigenetic factor crucial for brain functioning. We found, in the brains of Mecp2-null mice, enhanced BBB permeability and the aberrant expression of the tight junction proteins Ocln and Cldn-5. Moreover, the Cldn3, Cldn12, Mpdz, Jam2, and Aqp4 genes, encoding factors with a role in the BBB structure and function, showed altered expressions in Mecp2-null brains. This study provides the first evidence of impaired BBB integrity in RTT and highlights a potential new molecular hallmark of the disease that might open new perspectives for the setting-up of novel therapeutic strategies. View this paper
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Biomolecules - ISSN 2218-273XCreative Common CC BY license