Leonardo Caporali

This study shows that the m.3243A>G mutation increases cell-free mtDNA release, triggering pyroptosis and inflammation in MELAS models.

nAPOGEE assesses pathogenicity of mitochondrial noncoding variants using machine learning, revealing consistent spatial correlation of predicted pathogenicity.

This study uses molecular dynamics simulations to assess how single or combined missense variants in respiratory complex I affect its function, finding that some variants stiffen key regions and worsen dysfunction.