mechanism 1,688 words KG: ent-gene-ab756cfa
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 Connections3 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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🌐 Cross-references

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Related Hypotheses (23)

TREM2-Mediated Selective Aggregate Clearance Pathway
Score: 0.58
TREM2-Dependent Microglial Senescence Transition
Score: 0.58
Miro1-Mediated Mitochondrial Trafficking Enhancement Therapy
Score: 0.55
← Prevpg 2/2

Related Analyses (30)

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neurodegeneration · archived
CRISPR-based therapeutic approaches for neurodegenerative di
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Lipid raft composition changes in synaptic neurodegeneration
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neurodegeneration · archived
APOE4 structural biology and therapeutic targeting strategie
neurodegeneration · archived

Related Experiments (11)

Cytochrome Therapeutics
clinical · proposed · Score: 0.40
ER-Golgi Secretory Pathway Dysfunction in PD - Experiment De
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 Combination Therapy Trial: Anti-Aβ + Anti-Tau
clinical · proposed · Score: 0.40

Knowledge Graph (3 edges)

ent-gene-ab756cfa has_risk_variant rs11218343
ent-gene-ab756cfa participates_in_pathway R-HSA-977225
30906402 is associated with ent-gene-ab756cfa

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