mechanism 1,505 words KG: ent-gene-83d99ff1 2026-03-24
kind:mechanismsection:mechanismsstate:published
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 Connections2 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Knowledge Graph

Related Hypotheses (12)

Bacterial Enzyme-Mediated Dopamine Precursor Synthesis
Score: 0.36
Microbiome-Derived Tryptophan Metabolite Neuroprotection
Score: 0.41
Ocular Immune Privilege Extension
Score: 0.47
Circadian-Synchronized LRP1 Pathway Activation
Score: 0.53
Cryptic Exon Silencing Restoration
Score: 0.46

Related Analyses (30)

TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · archived
RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · archived
How do pathological stress granules in neurodegeneration esc
neurodegeneration · failed
RNA binding protein dysregulation across ALS FTD AD
neurodegeneration · failed
TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · completed

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 (2 edges)

ent-gene-83d99ff1 data_in benchmark_ot_ad_answer_key:FUS
benchmark_ot_ad_answer_key:FUS data_in ent-gene-83d99ff1