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mechanism 2,356 words KG: ent-gene-7ae87e14 2026-03-29
kind:section:mechanismsevidence:strongmechanismsection:mechanismsstate:publishedtopic:causal-chaintopic:optntopic:alstopic:ftdtopic:parkinsontopic:mitophagytopic:autophagy
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 Connections2 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Knowledge Graph

Related Hypotheses (30)

Microbial Inflammasome Priming Prevention
Score: 0.70VCP-Mediated Autophagy Enhancement
Score: 0.69Targeted Butyrate Supplementation for Microglial Phenotype M
Score: 0.68Prohibitin-2 Mitochondrial Cross-Seeding Hub Disruption
Score: 0.63Nutrient-Sensing Epigenetic Circuit Reactivation
Score: 0.82

Related Analyses (30)

Selective 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 · archivedBlood-brain barrier transport mechanisms for antibody therap
neurodegeneration · archived

Related Experiments (30)

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

Knowledge Graph (2 edges)

ent-gene-7ae87e14 data_in benchmark_ot_ad_answer_key:OPTN
benchmark_ot_ad_answer_key:OPTN data_in ent-gene-7ae87e14

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