Dysregulation in any of these regulatory nodes may induce ultrastructural mitochondrial abnormalities and functional impairments, ultimately precipitating axonal degeneration and neuronal apoptosispathological hallmarks that define neurodegenerative pathogenesis (Hong et al., 2024)
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As proof of principle, Cockayne syndrome, ataxia with oculomotor apraxia 1 (AOA1), spinocerebellar ataxia with axonal neuropathy 1 (SCAN1), and ataxiatelangiectasia were shown to have mitochondrial dysfunction, and those diseases showed a strong alignment with mitochondrial disorders (ScheibyeKnudsen et al
