disease 2,718 words KG: ent-dise-e6019d4a
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

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Related Hypotheses (32)

Synaptic Vesicle Tau Capture Inhibition
Score: 0.58
Fractalkine Axis Amplification via CX3CR1 Positive Allosteri
Score: 0.56
Circadian-Gated Maresin Biosynthesis Amplification
Score: 0.56
Trans-Synaptic Adhesion Molecule Modulation
Score: 0.54
Phase-Separated Organelle Targeting
Score: 0.73
Stress Granule Phase Separation Modulators
Score: 0.72
Axonal RNA Transport Reconstitution
Score: 0.70
Chaperone-Mediated APOE4 Refolding Enhancement
Score: 0.68
Glycine-Rich Domain Competitive Inhibition
Score: 0.64
Heat Shock Protein 70 Disaggregase Amplification
Score: 0.62
Cryptic Exon Silencing Restoration
Score: 0.53
RNA-Binding Competition Therapy for TDP-43 Cross-Seeding
Score: 0.47
← Prevpg 2/2

Related Analyses (25)

RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · archived
RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · completed
How do non-cell autonomous effects of autophagy dysfunction
neurodegeneration · completed
TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · completed
TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · archived

Related Experiments (11)

ALS Regional Onset and Spread: Network-Level Staging Model
clinical · proposed · Score: 0.40
s:** - Single-cell RNA-seq to measure editing efficiency acr
falsification · proposed · Score: 0.40
TDP-43 PET Ligand Development for FTD and ALS
clinical · proposed · Score: 0.40
ER-Golgi Secretory Pathway Dysfunction in PD - Experiment De
clinical · proposed · Score: 0.40
cGAS/STING pathway activation by TDP-43-released mtDNA
exploratory · proposed · Score: 0.95

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