SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

scientific article

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode2017NatCo...816063H
P6179Dimensions Publication ID1090351104
P356DOI10.1038/NCOMMS16063
P932PMC publication ID5504286
P698PubMed publication ID28677678

P50authorPamela ShawQ20716854
Kurt J De VosQ37379258
Johnathan Cooper-KnockQ38322650
Janine KirbyQ38322672
Laura FerraiuoloQ41574303
Mimoun AzzouzQ42850479
Alexander J. WhitworthQ42943935
Ke NingQ58333877
Alvaro Sanchez-MartinezQ58836306
Guillaume M HautbergueQ59572053
Monika A MyszczynskaQ64682980
Kathrin MeyerQ96017543
P2093author name stringBrian K Kaspar
Sherif F El-Khamisy
Evangelia Karyka
Jayanth S Chandran
Adrian Higginbottom
Adrian M Isaacs
Ya-Hui Lin
Claudia S Bauer
Lydia M Castelli
Emma F Smith
Jennifer E Dodd
Matthew J Stopford
Pierre Garneret
Sarah M Alam
P2860cites workThe crystal structure of the exon junction complex reveals how it maintains a stable grip on mRNAQ24300447
Recruitment of the human TREX complex to mRNA during splicingQ24306879
Chtop is a component of the dynamic TREX mRNA export complexQ24307827
Luzp4 defines a new mRNA export pathway in cancer cellsQ24318387
Adaptor Aly and co-adaptor Thoc5 function in the Tap-p15-mediated nuclear export of HSP70 mRNAQ24320299
UIF, a New mRNA export adaptor that works together with REF/ALY, requires FACT for recruitment to mRNAQ24336514
A molecular link between SR protein dephosphorylation and mRNA exportQ24561984
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense interventionQ24562489
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALSQ24608159
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALSQ24633692
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTDQ24634583
Structural and functional analysis of RNA and TAP binding to SF2/ASFQ24683765
An amyloid-like cascade hypothesis for C9orf72 ALS/FTDQ26778174
The role of TREX in gene expression and diseaseQ28078160
A genome-wide transgenic RNAi library for conditional gene inactivation in DrosophilaQ28236209
Mutually exclusive interactions drive handover of mRNA from export adaptors to TAPQ28512678
REF, an evolutionary conserved family of hnRNP-like proteins, interacts with TAP/Mex67p and participates in mRNA nuclear export.Q28587508
Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell deathQ28854599
The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathwayQ29465536
Mitochondrial pathology and apoptotic muscle degeneration in Drosophila parkin mutantsQ29615627
Directed differentiation of embryonic stem cells into motor neuronsQ29616200
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.Q29871482
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansionsQ33784052
Robust RT-qPCR data normalization: validation and selection of internal reference genes during post-experimental data analysisQ33851389
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansionQ33878156
Primer-BLAST: a tool to design target-specific primers for polymerase chain reactionQ34307627
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.Q34326849
Non-ATG-initiated translation directed by microsatellite expansionsQ34471662
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transportQ34491033
The solution structure of REF2-I reveals interdomain interactions and regions involved in binding mRNA export factors and RNA.Q35110861
C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral SclerosisQ35643260
Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.Q35746397
Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.Q36014935
FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusionsQ36073654
Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS.Q36108576
RAN Translation in Huntington DiseaseQ36386897
Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTDQ36616570
Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.Q36795394
Intrinsic GTP hydrolysis is observed for a switch 1 variant of Cdc42 in the presence of a specific GTPase inhibitor.Q36997845
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteinsQ37094833
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementiaQ37409251
Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALSQ37495227
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxicQ37503127
Molecular pathways of motor neuron injury in amyotrophic lateral sclerosisQ37952528
Gene expression profiling in human neurodegenerative diseaseQ38034387
Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art.Q38260614
C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosisQ38339081
Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.Q38379408
IGD: a resource for intronless genes in the human genomeQ38500749
Control of mammalian gene expression by selective mRNA exportQ38529724
Unstable repeat expansions in neurodegenerative diseases: nucleocytoplasmic transport emerges on the sceneQ38753593
SR proteins are NXF1 adaptors that link alternative RNA processing to mRNA export.Q38788828
Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansionsQ38789426
The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagyQ39662062
REF1/Aly and the additional exon junction complex proteins are dispensable for nuclear mRNA exportQ40689151
TREX exposes the RNA-binding domain of Nxf1 to enable mRNA exportQ40711565
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.Q40741164
Self-inactivating lentiviral vectors with enhanced transgene expression as potential gene transfer system in Parkinson's diseaseQ40904090
The Ref/Aly proteins are dispensable for mRNA export and development in Caenorhabditis elegansQ41836703
CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndromeQ42068973
C9orf72 is required for proper macrophage and microglial function in miceQ42364302
Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.Q42925023
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS.Q42975231
SR splicing factors serve as adapter proteins for TAP-dependent mRNA exportQ44384538
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutationsQ44742682
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteinsQ46797980
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.Q47073323
C9orf72 plays a central role in Rab GTPase-dependent regulation of autophagy.Q51371013
Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers.Q54339239
Structure and function of mRNA export adaptorsQ82514342
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P921main subjectneurodegenerationQ1755122
Splicing factor 2 Dmel_CG6987Q29817370
P304page(s)16063
P577publication date2017-07-05
P1433published inNature CommunicationsQ573880
P1476titleSRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits
P478volume8

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cites work (P2860)
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Q90524749CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation
Q58566969Control of CNS functions by RNA-binding proteins in neurological diseases
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Q91771220Mechanism and Regulation of Co-transcriptional mRNP Assembly and Nuclear mRNA Export
Q64261334Micro-RNAs secreted through astrocyte-derived extracellular vesicles cause neuronal network degeneration in C9orf72 ALS
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