| Vesicle trafficking | VPS13 proteins are involved in intracellular membrane transport between organelles[@du2020] |
| Cytoskeletal organization | Chorein may interact with the actin cytoskeleton and affect membrane protein distribution[@velayosbaeza2004] |
| Autophagy | Impaired autophagic flux may lead to accumulation of damaged organelles and proteins[@zhang2020] |
| Iron metabolism | Altered iron handling may contribute to oxidative stress and neuronal injury[@mazarati2021] |
| Mitochondrial dysfunction | Impaired energy metabolism and increased oxidative stress[@hara2014] |
| Dysregulated iron metabolism | Elevated ferritin levels and iron accumulation in the basal ganglia[@kawai2007] |
| Excitotoxicity | Enhanced glutamatergic signaling leading to calcium overload[@danek2009] |
| Peripheral neuropathy | Demyelinating neuropathy with loss of proprioception and reflexes[@koren2015] |
| Ataxia | Cerebellar degeneration leading to gait instability[@harding1991] |
| Retinitis pigmentosa | Progressive photoreceptor degeneration[@runge1986] |
| Dystonia | Sustained or intermittent muscle contractions causing abnormal postures or movements[@bader2011a] |
| Tremor | Rhythmic oscillatory movements, typically rest or action tremor[@vitale2016] |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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