| Membrane trafficking | Impaired endosomal-lysosomal function disrupts receptor signaling and nutrient sensing |
| Mitochondrial dysfunction | Energy production deficits and increased reactive oxygen species generation |
| Autophagy | Impaired autophagic flux leading to protein aggregate accumulation and defective mitophagy[@mtorc2019] |
| Calcium homeostasis | Disrupted ER calcium signaling affects neuronal excitability and survival |
| Neurotransmission | Synaptic vesicle trafficking abnormalities impair synaptic function |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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