Molecular Basis of Mitochondrial Complex I Disruption by m.14484T>C-Induced Leber Hereditary Optic Neuropathy
Pujan Ajmera, Daniel Guion, Steven Barnes, Alfredo Arrigo Sadun, Anastassia N. Alexandrova
This study identifies how the m.14484T>C mutation in ND6 subunit of complex I disrupts quinone binding and proton pumping, leading to LHON through altered hydrogen bond networks and redox chemistry.
bioRxiv · Apr 23, 2026 · PreprintBiophysics