CORDIS Project
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This project investigates the role of mitochondrial proteins in cerebellar neurons affected by Rett syndrome, a neurodevelopmental disorder. By analyzing these proteins in specific neurons, the project aims to uncover the underlying mechanisms of mitochondrial dysfunction and identify potential therapeutic targets for…
Mutations in the X-linked gene encoding methyl-CpG binding protein 2 (Mecp2) can lead to the progressive neurodevelopmental disorder known as Rett syndrome (RTT), characterized by regression in motor, social and cognitive skills, respiratory dysrhythmias and premature lethality.
Although few symptomatic treatments exist, nowadays there is still no cure for this disease.
Mecp2 acts as transcriptional regulator and its mutations directly affect the expression of targeted transcripts, including mit…
UNIVERSITAT AUTONOMA DE BARCELONA
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