CORDIS Project
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This project investigates Coenzyme Q10 deficiency, focusing on its genetic causes and the resulting mitochondrial dysfunction. By creating a specific mouse model, it aims to explore potential treatments and understand the disease's impact on neurodegeneration and aging.
Coenzyme Q10 (CoQ10) deficiency is an autosomal recesive disorder where the encephalomyopathy and nephropathy seems to be the most important clinical presentations.
Some patients respond to CoQ10 supplementation but others do not.
In my Postdoctoral stay in Columbia University I identified the first mutation in PDSS2, which encoded the protein responsible for the syntesis of decaprenyl chain.
Moreover, I have studied the pathological consequences associated to CoQ10 deficiency in culture fibrobl…
UNIVERSIDAD DE GRANADA
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