disease 2,861 words KG: DRPLA
Contents

Dentatorubral-Pallidoluysian Atrophy (DRPLA)

Disease Info
Juvenile-onset DRPLAonset before 20 years, typically associated with 65-88 repeats
Adult-onset DRPLAonset after 20 years, typically associated with 48-60 repeats
Dentatorubral degenerationdegeneration of the dentate nucleus in the cerebellum and the red nucleus in the midbrain
Pallidoluysian degenerationdegeneration of the globus pallidus and the subthalamic nucleus
Loss of Purkinje cellsin the cerebellar cortex
Neuronal loss and gliosisthroughout the cerebellum, brainstem, and basal ganglia
Associated GenesHUNTINGTIN, HUNTINGTON
KG Connections21 knowledge graph edges
DatabasesOMIMOrphanetClinicalTrialsPubMed

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Related Hypotheses (6)

Lysosomal Enzyme Trafficking Correction
Score: 0.71
Lysosomal Calcium Channel Modulation Therapy
Score: 0.70
Lysosomal Positioning Dynamics Modulation
Score: 0.69
Mitochondrial-Lysosomal Contact Site Engineering
Score: 0.67
Lysosomal Membrane Repair Enhancement
Score: 0.54
Trinucleotide Repeat Sequestration via CRISPR-Guided RNA Tar
Score: 0.61

Related Analyses (4)

Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · completed
Metabolic reprogramming in neurodegenerative disease
neurodegeneration · completed
CRISPR-based therapeutic approaches for neurodegenerative di
neurodegeneration · archived

Related Experiments (13)

Animal Model Comparison for Neurodegenerative Disease Therap
clinical · proposed · Score: 0.40
Endocannabinoid System Dysfunction Validation in Parkinson's
clinical · proposed · Score: 0.40
Glymphatic-Circadian Axis Enhancement Therapy for Parkinson'
clinical · proposed · Score: 0.40
Levodopa-Induced Dyskinesias Mechanism — Experiment Design
validation · proposed · Score: 0.40
Gut Microbiome-Derived Metabolites in Alpha-Synuclein Propag
clinical · proposed · Score: 0.40

See Also (7)

NeuRon Therapeutics
company · KG edge: expressed_in
Neurodegeneration
disease · KG edge: implicated_in
FUS (Redirect)
redirect · KG edge: expressed_in
Packard Center for ALS Research
institution · KG edge: expressed_in
Protein Aggregation in Neurodegenerative Disease Compar
mechanism · KG edge: expressed_in

Knowledge Graph (12 edges)

DRPLA associated_with HUNTINGTIN
HUNTINGTIN associated_with DRPLA
DRPLA expressed_in Rb
DRPLA inhibits neurodegeneration
DRPLA causes HUNTINGTON
DRPLA expressed_in Als
DRPLA causes Huntington
DRPLA expressed_in T Cell
DRPLA expressed_in Neuron
DRPLA causes HUNTINGTON'S DISEASE

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