| Transcriptional dysregulation | mHTT interacts with transcription factors and chromatin remodelers, altering gene expression patterns critical for neuronal survival |
| Impaired autophagy | mHTT aggregates interfere with the autophagy-lysosome pathway, reducing clearance of damaged proteins and organelles |
| Mitochondrial dysfunction | mHTT impairs mitochondrial electron transport chain function and promotes mitochondrial fragmentation |
| Axonal transport defects | mHTT disrupts microtubule-based transport of vesicles, organelles, and signaling molecules |
| Synaptic dysfunction | Alters synaptic plasticity and neurotransmitter release |
| Subthalamic nucleus | Neuronal loss contributes to chorea |
| Thalamus | Degeneration contributes to cognitive symptoms |
| Cerebellum | Involvement correlates with motor incoordination |
| Hippocampus | Progressive atrophy contributes to memory impairment |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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