disease 2,718 words KG: ent-dise-e6019d4a 2026-03-23
kind:diseasesection:diseasesstate:published
Contents

FUS Mutations in Amyotrophic Lateral Sclerosis

Disease Info
InheritanceAutosomal dominant
Transcription regulationActs as a transcriptional activator, interacting with RNA polymerase II and various transcription factors
Alternative splicingRegulates the splicing of numerous neuronal transcripts through interaction with splicing factors
RNA transportFacilitates transport of mRNAs to dendritic and axonal compartments
Translation regulationModulates translation at synapses
DNA damage responseParticipates in non-homologous end joining and other DNA repair pathways
Stress granule formationFUS is a key component of stress granules, cytoplasmic RNA-protein assemblies that form during cellular stress
PenetranceNear complete but age-dependent
De novo mutationsCommon, particularly for severe mutations like P525L
AnticipationNot typically observed
Founder effectsIdentified in some populations
N-terminal mutationsLess common, affect aggregation propensity
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (30)

Selective Acid Sphingomyelinase Modulation Therapy
Score: 0.65
Dual-Domain Antibodies with Engineered Fc-FcRn Affinity Modu
Score: 0.57
Selective HDAC3 Inhibition with Cognitive Enhancement
Score: 0.56
Senescence-Induced Lipid Peroxidation Spreading
Score: 0.53
Circadian-Synchronized LRP1 Pathway Activation
Score: 0.53

Related Analyses (30)

TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · archived
RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · archived
CRISPR-based therapeutic approaches for neurodegenerative di
neurodegeneration · archived
Microglial subtypes in neurodegeneration — friend vs foe
neuroscience · failed
CRISPR-based therapeutic approaches for neurodegenerative di
neurodegeneration · completed

Related Experiments (11)

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
ER-Golgi Secretory Pathway Dysfunction in PD - Experiment De
clinical · proposed · Score: 0.40
TDP-43 PET Ligand Development for FTD and ALS
clinical · proposed · Score: 0.40
cGAS/STING pathway activation by TDP-43-released mtDNA
exploratory · proposed · Score: 0.95