disease 4,606 words KG: ent-dise-a344db00
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Huntington's Disease

Disease Info
Transcriptional dysregulationmHTT interacts with transcription factors and chromatin remodelers, altering gene expression patterns critical for neuronal survival
Impaired autophagymHTT aggregates interfere with the autophagy-lysosome pathway, reducing clearance of damaged proteins and organelles
Mitochondrial dysfunctionmHTT impairs mitochondrial electron transport chain function and promotes mitochondrial fragmentation
Axonal transport defectsmHTT disrupts microtubule-based transport of vesicles, organelles, and signaling molecules
Synaptic dysfunctionAlters synaptic plasticity and neurotransmitter release
Subthalamic nucleusNeuronal loss contributes to chorea
ThalamusDegeneration contributes to cognitive symptoms
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DatabasesOMIMOrphanetClinicalTrialsPubMed

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