Oliver Podmanicky

This study shows that high mitochondrial DNA heteroplasmy in human organoids with the m.3243A>G mutation causes cortical neuronal disturbances, including axonal degeneration and apoptosis, similar to MELAS patients.

This study shows that MFN2 mutations in CMT2A patients alter mitochondrial fission and metabolism through distinct DRP1 dysregulation mechanisms.

This study identifies cell-type-specific adaptations to mitochondrial stress in MTRFR mutations, showing cortical neurons activate survival programs while motor neurons undergo apoptosis.