mechanism 1,688 words KG: ent-gene-ab756cfa 2026-03-29
kind:section:mechanismsevidence:strongmechanismsection:mechanismsstate:publishedtopic:alzheimerstopic:causal-chaintopic:retromertopic:endosomal-trafficking
Contents

SORL1→APP Trafficking→Retromer Dysfunction→Aβ Accumulation→AD Causal Chain

🔬 Protein Info
Gene Symbolent-gene-ab756cfa
GWAS variantsReduce SORL1 expression through altered transcription factor binding, enhancer activity, or splicing
Rare variantsIntroduce amino acid changes in functional domains (VPS10P, LDLR, β-propeller) or create premature stop codons
KG Connections4 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Knowledge Graph

Related Hypotheses (29)

Membrane Cholesterol Gradient Modulators
Score: 0.52
Multi-Target Hypothesis: Aβ-Induced Cholinergic Damage is Pa
Score: 0.70
TREM2-mediated microglial tau clearance enhancement
Score: 0.49
Selective Cholinergic Protection via APP Pathway Modulation
Score: 0.43
Targeted APOE4-to-APOE3 Base Editing Therapy
Score: 0.53

Related Analyses (30)

CRISPR-based therapeutic approaches for neurodegenerative di
neurodegeneration · archived
CRISPR-based therapeutic approaches for neurodegenerative di
neurodegeneration · completed
Blood-brain barrier transport mechanisms for antibody therap
neurodegeneration · archived
APOE4 structural biology and therapeutic targeting strategie
neurodegeneration · archived
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived

Related Experiments (11)

ER-Golgi Secretory Pathway Dysfunction in PD - Experiment De
clinical · proposed · Score: 0.40
Cytochrome Therapeutics
clinical · proposed · Score: 0.40
Creation and validation of 3xAD-ChAT-Cre mouse model
validation · proposed · Score: 0.90
Adoptive transfer of TCRAβ-Tregs in AD mouse model
validation · proposed · Score: 0.90
AD Amyloid-Resilient Phenotype Study — Why Some amyloid-Posi
clinical · proposed · Score: 0.40

Knowledge Graph (4 edges)

ent-gene-ab756cfa data_in ad_genetic_risk_loci:SORL1
ent-gene-ab756cfa data_in benchmark_ot_ad_answer_key:SORL1
ad_genetic_risk_loci:SORL1 data_in ent-gene-ab756cfa
benchmark_ot_ad_answer_key:SORL1 data_in ent-gene-ab756cfa