Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice

scientific article published on 28 November 2017

Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1093/HMG/DDX415
P932PMC publication ID5886082
P698PubMed publication ID29194538

P50authorChristopher ShawQ24005568
Caroline VanceQ42649168
Eva SoQ85459143
George ChennellQ88174775
P2093author name stringGema Vizcay-Barrena
Jacqueline C Mitchell
Caroline Memmi
Leanne Allison
P2860cites workThe Microprocessor complex mediates the genesis of microRNAsQ24312976
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Ultrastructural studies of ALS mitochondria connect altered function and permeability with defects of mitophagy and mitochondriogenesisQ26782995
Oxidative stress and mitochondrial damage: importance in non-SOD1 ALSQ27023941
FUS transgenic rats develop the phenotypes of amyotrophic lateral sclerosis and frontotemporal lobar degenerationQ27342067
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
TLS facilitates transport of mRNA encoding an actin-stabilizing protein to dendritic spinesQ28284342
FUS Interacts with HSP60 to Promote Mitochondrial DamageQ28547727
Delocalization of the multifunctional RNA splicing factor TLS/FUS in hippocampal neurones: exclusion from the nucleus and accumulation in dendritic granules and spine headsQ28582163
FUS binds the CTD of RNA polymerase II and regulates its phosphorylation at Ser2.Q30456334
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
Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse modelsQ30572264
Functional interaction between FUS and SMN underlies SMA-like splicing changes in wild-type hFUS mice.Q33700562
The ALS gene FUS regulates synaptic transmission at the Drosophila neuromuscular junction.Q33784500
Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice.Q34136342
Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusionsQ34183099
FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutationsQ34209561
Activity-dependent FUS dysregulation disrupts synaptic homeostasisQ34480824
Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic miceQ34664325
Early changes of neuromuscular transmission in the SOD1(G93A) mice model of ALS start long before motor symptoms onsetQ34989403
ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.Q35114564
Identification of a critical period for motor development in neonatal ratsQ35661953
Motor neuron apoptosis and neuromuscular junction perturbation are prominent features in a Drosophila model of Fus-mediated ALSQ35887683
Entorhinal cortical neurons are the primary targets of FUS mislocalization and ubiquitin aggregation in FUS transgenic ratsQ36317708
Super-Resolution Microscopy Reveals Presynaptic Localization of the ALS/FTD Related Protein FUS in Hippocampal NeuronsQ36453024
ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of functionQ36548825
Mitochondrial dynamics and bioenergetic dysfunction is associated with synaptic alterations in mutant SOD1 motor neuronsQ36593996
Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypesQ36709139
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granulesQ36908224
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophyQ37294764
The RNA-binding protein Fus directs translation of localized mRNAs in APC-RNP granulesQ37379010
Defects in synapse structure and function precede motor neuron degeneration in Drosophila models of FUS-related ALS.Q37381821
Mitochondrial dysfunction in amyotrophic lateral sclerosis.Q37588819
Review: neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophyQ37702459
RNA processing pathways in amyotrophic lateral sclerosisQ37720436
Mitochondrial dysfunction is a converging point of multiple pathological pathways in amyotrophic lateral sclerosisQ37750234
The "dying-back" phenomenon of motor neurons in ALS.Q37807909
Synaptic changes in Alzheimer's disease and its modelsQ38017867
Mechanisms underlying synaptic vulnerability and degeneration in neurodegenerative diseaseQ38071648
Loss and gain of FUS function impair neuromuscular synaptic transmission in a genetic model of ALS.Q38314794
Early synaptic dysfunction in Parkinson's disease: Insights from animal models.Q38837604
Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis.Q39069154
ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.Q39150934
Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS/TLS harbouring ALS-linked mutationsQ39464446
FUS/TLS is a novel mediator of androgen-dependent cell-cycle progression and prostate cancer growth.Q39618319
Enhancing mitochondrial calcium buffering capacity reduces aggregation of misfolded SOD1 and motor neuron cell death without extending survival in mouse models of inherited amyotrophic lateral sclerosisQ41842786
FUS regulates AMPA receptor function and FTLD/ALS-associated behaviour via GluA1 mRNA stabilizationQ41950782
ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutationQ42003982
Neuromuscular junction protection for the potential treatment of amyotrophic lateral sclerosisQ42285046
Expression of human FUS/TLS in yeast leads to protein aggregation and cytotoxicity, recapitulating key features of FUS proteinopathyQ42732668
Early vacuolization and mitochondrial damage in motor neurons of FALS mice are not associated with apoptosis or with changes in cytochrome oxidase histochemical reactivity.Q43777123
Mitochondria, motor neurons and agingQ44577873
Calcium channel agonists protect against neuromuscular dysfunction in a genetic model of TDP-43 mutation in ALS.Q45929410
The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology.Q46409672
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.Q48021519
Amyotrophic lateral sclerosis is a distal axonopathy: evidence in mice and manQ75310510
P4510describes a project that usesImageJQ1659584
P433issue3
P921main subjectneuromuscular junctionQ776995
P304page(s)463-474
P577publication date2018-02-01
P1433published inHuman Molecular GeneticsQ2720965
P1476titleMitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice
P478volume27

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cites work (P2860)
Q99547009ALS Genetics: Gains, Losses, and Implications for Future Therapies
Q57813809ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS
Q92577532Alterations in lipid metabolism of spinal cord linked to amyotrophic lateral sclerosis
Q57805709Amyotrophic Lateral Sclerosis associated FUS mutation shortens mitochondria and induces neurotoxicity
Q90084008Differentiation but not ALS mutations in FUS rewires motor neuron metabolism
Q52651163Energy metabolism in ALS: an underappreciated opportunity?
Q91811242Existing and Emerging Metabolomic Tools for ALS Research
Q57292336FUS interacts with ATP synthase beta subunit and induces mitochondrial unfolded protein response in cellular and animal models
Q90576238FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis
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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Q89497713The Role of RNA Binding Proteins for Local mRNA Translation: Implications in Neurological Disorders
Q58779202The physiological and pathological biophysics of phase separation and gelation of RNA binding proteins in amyotrophic lateral sclerosis and fronto-temporal lobar degeneration

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