BiophysicsbioRxivPreprint
Molecular Basis of Mitochondrial Complex I Disruption by m.14484T>C-Induced Leber Hereditary Optic Neuropathy
Pujan Ajmera, Daniel Guion, Steven Barnes…·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.
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