CORDIS Project
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This project focuses on understanding mitochondrial dysfunction in Pompe Disease, a genetic disorder affecting muscle and nerve function. It aims to explore potential therapies that combine gene therapy with treatments to enhance mitochondrial function and combat oxidative stress.
The central role of ATP production by oxidative-phosphorylation, together with calcium buffering and apoptosis, makes mitochondria an organelle interacting with many processes within the cell.
Neuronal and muscular tissues require high amounts of ATP to perform their everyday function, therefore are heavily dependent on mitochondrial function.
Neuromuscular synapses are of particular importance since synaptic transmission is a highly regulated process which requires active and functionally compe…
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