Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE Loss of Dynamic RNA Interaction and Aberrant Phase Separation Induced by Two Distinct Types of ALS/FTD-Linked FUS Mutations. 31630970 2020
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE In addition to familial ALS, abnormal aggregates of FUS are present in a portion of FTD and other neurodegenerative diseases independent of their mutations. 31230528 2019
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE The neuropathological correlate of FTD is frontotemporal lobar degeneration (FTLD), characterized by tau-, TDP-43-, and FUS-immunoreactive neuronal inclusions. 30774737 2019
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE Pathological FUS inclusions are found in 10% of patients with frontotemporal dementia (FTD) and those with amyotrophic lateral sclerosis (ALS) carrying FUS mutations. 31509188 2019
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 AlteredExpression disease BEFREE <b>Abbreviations:</b> 4HPR: 4-hydroxy(phenyl)retinamide; AKT: AKT1 serine/threonine kinase 1; ALS: amyotrophic lateral sclerosis; ATG: autophagy related; AVs: autophagic vesicle; C9orf72: chromosome 9 open reading frame 72; CASP3: caspase 3; CHAT: choline O-acetyltransferase; CYCS: cytochrome c, somatic; DIV: day in vitro; FTD: frontotemporal dementia; FUS: FUS RNA binding protein; GFP: green fluorescent protein; hiPSCs: human induced pluripotent stem cells; MAP1LC3/LC3: microtubule associated protein 1 light chain 3; MNs: motoneurons; mRFP: monomeric red fluorescent protein; MTOR: mechanistic target of rapamycin kinase; NFE2L2/NRF2: nuclear factor, erythroid 2 like 2; RARA: retinoic acid receptor alpha; SLC18A3/VACHT: solute carrier family 18 (vesicular acetylcholine transporter), member 3; SQSTM1/p62: sequestosome 1; TBK1: TANK binding kinase 1; TEM: transmission electron microscopy. 30939964 2019
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE Phase-separated compartments can concentrate specific RNA-binding proteins (RBPs), such as TDP-43 and fused in sarcoma (FUS), that through low-complexity, prion-like domains have an intrinsic tendency to form self-templating fibrils that are closely tied to fatal neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. 30948513 2019
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE Previously, we engineered potentiated Hsp104 variants to suppress the proteotoxicity, aggregation, and mislocalization of FUS and other proteins that aggregate in ALS/FTD and Parkinson's disease. 31171724 2019
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE FUS (fused in sarcoma) mislocalization and cytoplasmic aggregation are hallmark pathologies in FUS-related amyotrophic lateral sclerosis and frontotemporal dementia. 29194538 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE FTD usually belongs to the frontotemporal lobar degeneration (FTLD) disease group, and its familial forms are dominantly inherited and linked to a group of genes relevant to frontal and temporal brain pathology, such as MAPT, GRN, C9ORF72, TARDBP, CHMP2B, VCP, and FUS. 29578490 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 GeneticVariation disease BEFREE In the case of ALS and FTD, these protein aggregates are found in the cytoplasm of affected neurons and contain certain RNA-binding proteins (RBPs), namely the TAR DNA-binding protein of 43 kDa (TDP-43) and the fused in sarcoma (FUS) gene product. 30486313 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 AlteredExpression disease BEFREE We found that FUS, an oscillating expressed nuclear protein implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), exerted a novel feedback route to regulate circadian gene expression. 30338063 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE Subcellular mislocalization and aggregation of the human FUS protein occurs in neurons of patients with subtypes of amyotrophic lateral sclerosis and frontotemporal dementia. 29547565 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 GeneticVariation disease BEFREE Aggregation of fused in sarcoma (FUS) protein, and mutations in FUS gene, are causative to a range of neurodegenerative disorders including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. 29425337 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE Persistence of the phase-separated state and increased cytoplasmic localization are both hypothesized to predispose FUS to irreversible aggregation, which is a pathological hallmark of subtypes of amyotrophic lateral sclerosis and frontotemporal dementia. 29897835 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 GeneticVariation disease BEFREE Collectively, our evidence demonstrates that human ALS/FTD-linked mutations in FUS induce a gain of toxicity that includes stress-mediated suppression in intra-axonal translation, synaptic dysfunction, and progressive age-dependent motor and cognitive disease without cytoplasmic aggregation, altered nuclear localization, or aberrant splicing of FUS-bound pre-mRNAs.VIDEO ABSTRACT. 30344044 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE Today, the AD&FTD Mutation Database provides curated, referenced information of 764 genetic variants in APP, PSEN1, and PSEN2 associated with AD and GRN, C9orf72, TBK1, MAPT, VCP, CHMP2B, TARDBP, and FUS associated with FTD and related diseases. 29956270 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE Intriguingly, many of the RNA targets of TDP-43 and FUS are involved in synaptic transmission and plasticity, indicating that synaptic dysfunction could be an early event contributing to motor and cognitive deficits in ALS and FTD. 29755516 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 GeneticVariation disease BEFREE Mutations in fused in sarcoma (Fus) cause familial amyotrophic lateral sclerosis (ALS) and occasionally frontotemporal dementia. 30273830 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 PosttranslationalModification disease BEFREE ALS-associated FUS-NLS mutations weaken the chaperone activity of Transportin and loss of FUS arginine methylation, as seen in FTD-FUS, promote phase separation, and stress granule partitioning of FUS. 29677514 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE Taken together, our findings point to an important role of nucleocytoplasmic transport proteins in FUS-induced ALS/FTD. 30379317 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE Neuronal inclusions of aggregated RNA-binding protein fused in sarcoma (FUS) are hallmarks of ALS and frontotemporal dementia subtypes. 28790177 2017
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE We discuss how TDP-43 and FUS may exit the nucleus and how defects in both nuclear and cytosolic mRNA processing events, and possibly nuclear export defects, may contribute to neurodegeneration and ALS/FTD pathogenesis. 28380257 2017
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 Biomarker disease BEFREE A significant increase of Fe deposition was observed in the claustrum, caudate nucleus, globus pallidus, thalamus, and subthalamic nucleus of the FTLD-FUS and FTLD-TDP groups, while in the ALS one, the Fe increase was only observed in the caudate and the subthalamic nuclei. 28988390 2017
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 GeneticVariation disease BEFREE These data suggest that cytoplasmic FUS aggregates impair dendritic mRNA trafficking and translation, in turn leading to dendritic homeostasis disruption and the development of FTD phenotypes. 28928015 2017
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.200 GeneticVariation disease BEFREE Patients with FTLD were distributed between FTLD-tau (34 patients: 10 corticobasal degeneration, nine progressive supranuclear palsy, eight Pick's disease, three frontotemporal dementia with parkinsonism associated with chromosome 17, three unclassifiable tauopathy, and one argyrophilic grain disease); FTLD-TDP (55 patients: nine type A including one with motor neuron disease, 27 type B including 21 with motor neuron disease, eight type C with right temporal lobe presentations, and 11 unclassifiable including eight with motor neuron disease), FTLD-FUS (eight patients), and one patient with FTLD-ubiquitin proteasome system positive inclusions (FTLD-UPS) that stained negatively for tau, TDP-43, and FUS. 29053860 2017