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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)

Vagal Afferent Microbial Signal Modulation
Score: 0.62Designer TRAK1-KIF5 fusion proteins accelerate therapeutic m
Score: 0.62Sphingolipid Metabolism Reprogramming
Score: 0.62Low Complexity Domain Cross-Linking Inhibition
Score: 0.62SIRT6-NAD+ Axis Enhancement Therapy
Score: 0.61Netrin-1 Gradient Restoration
Score: 0.59Tau-Independent Microtubule Stabilization via MAP6 Enhanceme
Score: 0.57Fractalkine Axis Amplification via CX3CR1 Positive Allosteri
Score: 0.56Circadian-Gated Maresin Biosynthesis Amplification
Score: 0.56Digital Twin-Guided Metabolic Reprogramming
Score: 0.55Temporal Decoupling via Circadian Clock Reset
Score: 0.54Lysosomal Membrane Repair Enhancement
Score: 0.54Glymphatic System-Enhanced Antibody Clearance Reversal
Score: 0.54Blood-Brain Barrier SPM Shuttle System
Score: 0.53Gut Barrier Permeability-α-Synuclein Axis Modulation
Score: 0.53Cryptic Exon Silencing Restoration
Score: 0.53Astrocytic Lactate Shuttle Enhancement for Grid Cell Bioener
Score: 0.53Piezoelectric Nanochannel BBB Disruption
Score: 0.52Vocal Cord Neuroplasticity Stimulation
Score: 0.52Microbial Metabolite-Mediated α-Synuclein Disaggregation
Score: 0.51
← Prevpg 7/8Next →

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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