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Impairment of adenosinergic system in Rett syndrome: novel therapeutic target t...

Miranda-Lourenço, Catarina; Duarte, Sofia T.; Palminha, Cátia; Gaspar, Cláudia; Rodrigues, Tiago M.; Magalhães-Cardoso, Teresa; Rei, Nádia

Rett syndrome (RTT; OMIM#312750) is mainly caused by mutations in the X-linked MECP2 gene (methyl-CpG-binding protein 2 gene; OMIM*300005), which leads to impairments in the brain-derived neurotrophic factor (BDNF) signalling. The boost of BDNF mediated effects would be a significant breakthrough but it has been hampered by the difficulty to administer BDNF to the central nervous system. Adenosine, an endogenou...


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