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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)

Mitochondrial RNA Granule Rescue Pathway
Score: 0.66Optogenetic Microglial Deactivation via Engineered Inhibitor
Score: 0.66Arginine Methylation Enhancement Therapy
Score: 0.65KDM6A-Mediated H3K27me3 Rejuvenation
Score: 0.65Nucleolar Stress Response Normalization
Score: 0.65Mitochondrial Calcium Buffering Enhancement via MCU Modulati
Score: 0.65Glial Glycocalyx Remodeling Therapy
Score: 0.65DNMT1-Targeting Antisense Oligonucleotide Reset
Score: 0.65HCN1-Mediated Resonance Frequency Stabilization Therapy
Score: 0.65Mitochondrial SPM Synthesis Platform Engineering
Score: 0.65Grid Cell-Specific Metabolic Reprogramming via IDH2 Enhancem
Score: 0.65Synthetic Biology Rewiring via Orthogonal Receptors
Score: 0.65Ephrin-B2/EphB4 Axis Manipulation
Score: 0.64Glycine-Rich Domain Competitive Inhibition
Score: 0.64FOXO3-Longevity Pathway Epigenetic Reprogramming
Score: 0.63Quantum Coherence Disruption in Cellular Communication
Score: 0.63Heat Shock Protein 70 Disaggregase Amplification
Score: 0.62Synaptic Phosphatidylserine Masking via Annexin A1 Mimetics
Score: 0.62Serine/Arginine-Rich Protein Kinase Modulation
Score: 0.62Pharmacological Enhancement of APOE4 Glycosylation
Score: 0.62
← Prevpg 6/8Next →

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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