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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)

CX43 hemichannel engineering enables size-selective mitochon
Score: 0.69TREM2 Conformational Stabilizers for Synaptic Discrimination
Score: 0.69Pericyte Contractility Reset via Selective PDGFR-β Agonism
Score: 0.68Flotillin-1 Stabilization Compounds
Score: 0.68R-Loop Resolution Enhancement Therapy
Score: 0.68Chaperone-Mediated APOE4 Refolding Enhancement
Score: 0.68Osmotic Gradient Restoration via Selective AQP1 Enhancement
Score: 0.68Oligodendrocyte Protectin D1 Mimetic for Myelin Resolution
Score: 0.68RAB27A-dependent extracellular vesicle engineering for mitoc
Score: 0.67Metabolic Reprogramming via Microglial Glycolysis Inhibition
Score: 0.67Partial Neuronal Reprogramming via Modified Yamanaka Cocktai
Score: 0.67Nutrient-Sensing Epigenetic Circuit Reactivation
Score: 0.67Aquaporin-4 Polarization Enhancement via TREK-1 Channel Modu
Score: 0.67Mitochondrial-Lysosomal Contact Site Engineering
Score: 0.67Lipid Droplet Dynamics as Phenotype Switches
Score: 0.67GAP43-mediated tunneling nanotube stabilization enhances neu
Score: 0.67Complement C1q Subtype Switching
Score: 0.66RNA Granule Nucleation Site Modulation
Score: 0.66Biorhythmic Interference via Controlled Sleep Oscillations
Score: 0.66Temporal TET2-Mediated Hydroxymethylation Cycling
Score: 0.66
← Prevpg 5/8Next →

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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