mechanism 1,275 words KG: ent-gene-fabddf5f 2026-03-31
kind:mechanismsection:mechanismsstate:published
Contents

CHMP2B and ESCRT-III Dysfunction in Frontotemporal Dementia

🔬 Protein Info
Gene Symbolent-gene-fabddf5f
Central helical domain (80-160 aa)Core region enabling filament formation
Chromosomal location3p11.2
InheritanceAutosomal dominant
Danish founder mutationIntron 5 splice site mutation (c.532-11C>G)
KG Connections2 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Knowledge Graph

Related Hypotheses (12)

Purinergic Signaling Polarization Control
Score: 0.55
Mechanosensitive Ion Channel Reprogramming
Score: 0.51
Lipid Droplet Dynamics as Phenotype Switches
Score: 0.46
Lysosomal Membrane Repair Enhancement
Score: 0.45
Microglia-Derived Extracellular Vesicle Engineering for Targ
Score: 0.37

Related Analyses (30)

Astrocyte reactivity subtypes in neurodegeneration
neurodegeneration · archived
Blood-brain barrier transport mechanisms for antibody therap
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Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Neuroinflammation resolution mechanisms and pro-resolving me
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RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · archived

Related Experiments (2)

Cytochrome Therapeutics
clinical · proposed · Score: 0.40
FTLD-Tau vs FTLD-TDP In Vivo Biomarker Differentiation
clinical · proposed · Score: 0.40

See Also (15)

ALS Therapeutic Landscape — Programs by Phase and Modal
disease · Pages share 3 hypotheses
Wnt/β-Catenin Signaling Pathway in Neurodegeneration
mechanism · Pages share 3 hypotheses
WNK1-Bilirubin Signaling in Neuroinflammation and Neuro
mechanism · Pages share 3 hypotheses
vip-vasoactive-intestinal-peptide-signaling-neurodegene
mechanism · Pages share 3 hypotheses
VEGF Signaling and Cerebral Angiogenesis in Neurodegene
mechanism · Pages share 3 hypotheses

Knowledge Graph (2 edges)

ent-gene-fabddf5f data_in benchmark_ot_ad_answer_key:CHMP2B
benchmark_ot_ad_answer_key:CHMP2B data_in ent-gene-fabddf5f