Gustavo Egea

This study uses a zebrafish model of Marfan syndrome to identify potential therapies through a high-throughput drug screen and luminescence-based phenotyping.

This study examines a double heterozygous mouse model of Marfan and Williams-Beuren syndromes, showing combined vascular and cardiac phenotypes related to elastin and fibrillin-1.

This study investigates how the maternal environment affects cardiovascular traits in MFS offspring using a mouse model, finding maternal inheritance leads to earlier aortic enlargement and persistent cardiac issues.

This study evaluates the effects of Allopurinol and Losartan on cardiovascular phenotypes in a mouse model of Williams-Beuren syndrome, finding that Allopurinol reduces blood pressure and improves cardiac pathology.

This study investigates whether hyperuricaemia affects aortopathy and cardiopathy in a murine model of Marfan syndrome, finding no significant interference.

This study examines mitochondrial dysfunction in a Williams-Beuren Syndrome mouse model, finding altered mitochondrial dynamics and respiratory chain dysfunction in cardiac fibers, similar to human WBS fibroblasts.

The paper investigates the effect of curcumin and verapamil on cardiovascular phenotype in a Williams-Beuren Syndrome mice model, finding reduced oxidative stress and improved cardiovascular outcomes.