| Endosomal trafficking | Proper sorting and transport of vesicles within cells |
| Lysosomal function | Degradation and recycling of cellular components |
| Neuronal transport | Movement of organelles and signaling complexes along axons |
| Synaptic vesicle dynamics | Regulating neurotransmitter release at presynaptic terminals |
| SRSF2 and other splicing factors | Leading to widespread alternative splicing defects |
| Pur alpha | A multi-functional RNA-binding protein critical for RNA transport |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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