mechanism 1,505 words KG: ent-gene-83d99ff1
Contents

FUS Proteinopathy in Frontotemporal Dementia

🔬 Protein Info
Gene Symbolent-gene-83d99ff1
N-terminal low-complexity domain (LCD)Prion-like domain enabling liquid-liquid phase separation
RNA recognition motifs (RRMs)Three RRMs that bind RNA
Zinc finger domainDNA binding capability
P525LCommon ALS mutation with severe phenotype
R521C/GModerate penetrance, typical age of onset
R244XTruncation mutation
G156SAssociated with FTD without ALS
Autosomal dominantMost FUS-FTD/ALS mutations show dominant inheritance
Variable penetranceNot all mutation carriers develop disease
AnticipationEarlier onset in subsequent generations (rare)
TGFB1Alters FUS aggregation propensity
RANBP1Affects nuclear transport
C9orf72Can co-occur with FUS mutations 10
Cytoplasmic inclusionsGranular, compact, orskein-like structures
Neuronal intranuclear inclusionsSpherical or ring-shaped
KG Connections16 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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Knowledge Graph

Related Hypotheses (12)

Bacterial Enzyme-Mediated Dopamine Precursor Synthesis
Score: 0.38
Microbiome-Derived Tryptophan Metabolite Neuroprotection
Score: 0.43
Ocular Immune Privilege Extension
Score: 0.69
Circadian-Synchronized LRP1 Pathway Activation
Score: 0.71
Mitochondrial Transfer Pathway Enhancement
Score: 0.70
Astrocytic Lipoxin A4 Pathway Restoration via ALOX15 Gene Th
Score: 0.69
Cross-Seeding Prevention Strategy
Score: 0.69
FOXO3-Longevity Pathway Epigenetic Reprogramming
Score: 0.67
Mitochondrial RNA Granule Rescue Pathway
Score: 0.66
Glycine-Rich Domain Competitive Inhibition
Score: 0.64
Liquid-Liquid Phase Separation Modifier Therapy
Score: 0.55
Cryptic Exon Silencing Restoration
Score: 0.53

Related Analyses (29)

RNA binding protein dysregulation across ALS FTD AD
neurodegeneration · archived
TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · completed
TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · archived
RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · completed
RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · archived

Related Experiments (4)

s:** - Single-cell RNA-seq to measure editing efficiency acr
falsification · proposed · Score: 0.40
ALS Regional Onset and Spread: Network-Level Staging Model
clinical · proposed · Score: 0.40
TDP-43 PET Ligand Development for FTD and ALS
clinical · proposed · Score: 0.40
FTLD-Tau vs FTLD-TDP In Vivo Biomarker Differentiation
clinical · proposed · Score: 0.40

Knowledge Graph (12 edges)

h-0c9e2166ed targets ent-gene-83d99ff1
ent-gene-83d99ff1 targeted_by h-0c9e2166ed
h-297a9dcbfa targets ent-gene-83d99ff1
ent-gene-83d99ff1 targeted_by h-297a9dcbfa
h-a23cc3c8b9 targets ent-gene-83d99ff1
ent-gene-83d99ff1 targeted_by h-a23cc3c8b9
h-4c4bf4a28f targets ent-gene-83d99ff1
ent-gene-83d99ff1 targeted_by h-4c4bf4a28f
ent-gene-83d99ff1 participates_in_pathway R-HSA-72163
ent-gene-83d99ff1 participates_in_pathway R-HSA-72203

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