Marco Spinazzi

Pathophysiological insights into ACO2-related inherited disorders through combined functional and multi-omic analyses of ACO2 patient-derived fibroblasts

ACO2 encodes the mitochondrial aconitase, involved in the second step of the tricarboxylic acid cycle. ACO2 variants cause isolated dominant or recessive optic atrophy, characterized by the degeneration of the optic nerves and leading to vision loss with high clinical heterogenei...