Mislocated FUS is sufficient for gain-of-toxic-function amyotrophic lateral sclerosis phenotypes in mice

scientific article published on 30 June 2016

Mislocated FUS is sufficient for gain-of-toxic-function amyotrophic lateral sclerosis phenotypes in mice is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/BRAIN/AWW161
P698PubMed publication ID27368346

P50authorDaisuke ItoQ30430138
P2093author name stringNorihiro Suzuki
Takuya Yagi
Yoshihiro Nihei
Gen Shiihashi
Taeko Ebine
P2860cites workAbundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion diseaseQ24628685
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear importQ24630100
Conjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUSQ24634807
A new subtype of frontotemporal lobar degeneration with FUS pathologyQ24647697
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosisQ28131672
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosisQ28236796
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6Q28236805
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophyQ28263116
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosisQ28270779
Microglia-specific localisation of a novel calcium binding protein, Iba1Q28273977
Role of axonal transport in neurodegenerative diseasesQ28284096
Age-dependent deterioration of nuclear pore complexes causes a loss of nuclear integrity in postmitotic cellsQ28572651
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosisQ29615597
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.Q29871482
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degenerationQ30493749
Deficits in axonal transport precede ALS symptoms in vivoQ30497554
Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashionQ30532680
Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutationsQ30573122
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degenerationQ33922335
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granulesQ34308339
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transportQ34491033
ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.Q35114564
Genetic background effects on disease onset and lifespan of the mutant dynactin p150Glued mouse model of motor neuron diseaseQ35170908
Exome sequencing identifies FUS mutations as a cause of essential tremorQ36152927
FUS-SMN protein interactions link the motor neuron diseases ALS and SMAQ36354418
ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of functionQ36548825
Spliceosome integrity is defective in the motor neuron diseases ALS and SMA.Q36602121
Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAsQ36650975
Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.Q36795394
Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron lossQ36906420
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granulesQ36908224
ER stress and unfolded protein response in amyotrophic lateral sclerosisQ37382212
Functional recovery in new mouse models of ALS/FTLD after clearance of pathological cytoplasmic TDP-43.Q37451385
ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defectsQ37609639
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegenerationQ37733168
Effect of genetic background on phenotype variability in transgenic mouse models of amyotrophic lateral sclerosis: a window of opportunity in the search for genetic modifiersQ37829424
The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS geneQ38493216
ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.Q39150934
FUS/TLS deficiency causes behavioral and pathological abnormalities distinct from amyotrophic lateral sclerosisQ39927199
FUS regulates AMPA receptor function and FTLD/ALS-associated behaviour via GluA1 mRNA stabilizationQ41950782
Loss of fused in sarcoma (FUS) promotes pathological Tau splicingQ42138048
Characterization of alternative isoforms and inclusion body of the TAR DNA-binding protein-43.Q42940304
Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis.Q50932808
Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration.Q52546347
Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS.Q52607544
Mutations in dynein link motor neuron degeneration to defects in retrograde transportQ55984322
Characterization of inclusion bodies with cytoprotective properties formed by seipinopathy-linked mutant seipinQ56985709
N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stressQ56985760
P433issuePt 9
P407language of work or nameEnglishQ1860
P921main subjectamyotrophic lateral sclerosisQ206901
P304page(s)2380-2394
P577publication date2016-06-30
P1433published inBrainQ897386
P1476titleMislocated FUS is sufficient for gain-of-toxic-function amyotrophic lateral sclerosis phenotypes in mice
P478volume139

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cites work (P2860)
Q99547009ALS Genetics: Gains, Losses, and Implications for Future Therapies
Q30849444ALS-linked FUS exerts a gain of toxic function involving aberrant p38 MAPK activation
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Q64947141ATP binds and inhibits the neurodegeneration-associated fibrillization of the FUS RRM domain.
Q104459050Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis
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Q47623937Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.
Q91776698Integrative multi-omic analysis identifies new drivers and pathways in molecularly distinct subtypes of ALS
Q90211090Low Level of Expression of C-Terminally Truncated Human FUS Causes Extensive Changes in the Spinal Cord Transcriptome of Asymptomatic Transgenic Mice
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Q91741049Omics Approach to Axonal Dysfunction of Motor Neurons in Amyotrophic Lateral Sclerosis (ALS)
Q64228212Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis
Q90024987Protein functional annotation of simultaneously improved stability, accuracy and false discovery rate achieved by a sequence-based deep learning
Q47423589RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration
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Q58700147genetically interacts with the ALS-associated orthologue and mediates its toxicity

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