Valério Carelli

This study edits mtDNA variants in human iPSCs to show that heteroplasmic complex I variants impair neuronal commitment.

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

This study shows that mutations in RNASEH1 and Twinkle trigger innate immune activation through different mitochondrial nucleic acid release mechanisms, leading to paracrine inflammation in CPEO.

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.

The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.

The paper investigates the role of melanopsin retinal ganglion cells (mRGCs) in visual and cognitive brain responses in LHON patients using fMRI under different light conditions.