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mechanism 2,356 words KG: ent-gene-7ae87e14
Contents

OPTN (Optineurin) Mitophagy Dysfunction — ALS/FTD/PD Causal Chain

🔬 Protein Info
Gene Symbolent-gene-7ae87e14
p.M98KFound in glaucoma patients; affects TBK1 phosphorylation site proximity.
p.R545QFrameshift-prone region; truncates protein, eliminating LIR domain.
p.H486RIn UBAN domain, reduces ubiquitin chain binding affinity.
KG Connections20 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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Related Hypotheses (145)

Microbial Inflammasome Priming Prevention
Score: 0.65VCP-Mediated Autophagy Enhancement
Score: 0.59Targeted Butyrate Supplementation for Microglial Phenotype M
Score: 0.70Prohibitin-2 Mitochondrial Cross-Seeding Hub Disruption
Score: 0.47APOE-Dependent Autophagy Restoration
Score: 0.88Circadian Glymphatic Entrainment via Targeted Orexin Recepto
Score: 0.86AMPK hypersensitivity in astrocytes creates enhanced mitocho
Score: 0.82Selective APOE4 Degradation via Proteolysis Targeting Chimer
Score: 0.79Senescent Microglia Resolution via Maresins-Senolytics Combi
Score: 0.79Competitive APOE4 Domain Stabilization Peptides
Score: 0.78SASP-Driven Aquaporin-4 Dysregulation
Score: 0.78Selective HDAC3 Inhibition with Cognitive Enhancement
Score: 0.78Dual-Domain Antibodies with Engineered Fc-FcRn Affinity Modu
Score: 0.77Chromatin Accessibility Restoration via BRD4 Modulation
Score: 0.77APOE4 Allosteric Rescue via Small Molecule Chaperones
Score: 0.76SASP-Mediated Cholinergic Synapse Disruption
Score: 0.76Circadian Clock-Autophagy Synchronization
Score: 0.76Targeted APOE4-to-APOE3 Base Editing Therapy
Score: 0.76Transcriptional Autophagy-Lysosome Coupling
Score: 0.76Multi-Modal Stress Response Harmonization
Score: 0.76
pg 1/8Next →

Related Analyses (30)

SEA-AD Gene Expression Profiling — Allen Brain Cell Atlas
neurodegeneration · completedSelective vulnerability of entorhinal cortex layer II neuron
neurodegeneration · archived4R-tau strain-specific spreading patterns in PSP vs CBD
neurodegeneration · archivedTDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · archivedAstrocyte reactivity subtypes in neurodegeneration
neurodegeneration · archived

Related Experiments (30)

Mechanism: C9orf72 Hexanucleotide Repeat Expansion in ALS/FT
validation · proposed · Score: 0.40Autophagy Enhancement Drug Screening for Neurodegeneration
clinical · proposed · Score: 0.40Cytochrome Therapeutics
clinical · proposed · Score: 0.40FTD Microglia Role: Protective vs Destructive Mechanism Stud
validation · proposed · Score: 0.40Frontal and Temporal Lobe Selective Vulnerability in FTD — M
validation · proposed · Score: 0.40

Knowledge Graph (12 edges)

ent-gene-7ae87e14 targeted_by h-509dad7981
h-509dad7981 targets ent-gene-7ae87e14
ent-gene-7ae87e14 participates_in_pathway R-HSA-2565942
ent-gene-7ae87e14 participates_in_pathway R-HSA-5205685
ent-gene-7ae87e14 participates_in_pathway R-HSA-5357786
ent-gene-7ae87e14 participates_in_pathway R-HSA-5357905
ent-gene-7ae87e14 participates_in_pathway R-HSA-5357956
ent-gene-7ae87e14 participates_in_pathway R-HSA-8854214
ent-gene-7ae87e14 participates_in_pathway R-HSA-9013973
ent-gene-7ae87e14 participates_in_pathway R-HSA-936964

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