(Q33891056)

29 July 2017

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

1 reference

Splicing factor 2 Dmel_CG6987

29 July 2017

1 reference

GOA release 2020-03-11

author

Guillaume M Hautbergue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Laura Ferraiuolo

3

1 reference

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3 June 2020

Alvaro Sanchez-Martinez

4

1 reference

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3 June 2020

Johnathan Cooper-Knock

5

1 reference

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3 June 2020

Monika A Myszczynska

10

1 reference

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3 June 2020

Janine Kirby

17

1 reference

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3 June 2020

Kathrin Meyer

18

1 reference

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3 June 2020

Kurt J De Vos

22

1 reference

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3 June 2020

Ke Ning

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Mimoun Azzouz

24

1 reference

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3 June 2020

Alexander J. Whitworth

25

1 reference

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3 June 2020

Pamela Shaw

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

author name string

Lydia M Castelli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Adrian Higginbottom

6

1 reference

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3 June 2020

Ya-Hui Lin

7

1 reference

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3 June 2020

Claudia S Bauer

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Jennifer E Dodd

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Sarah M Alam

11

1 reference

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3 June 2020

Pierre Garneret

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Jayanth S Chandran

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Evangelia Karyka

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Matthew J Stopford

15

1 reference

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3 June 2020

Emma F Smith

16

1 reference

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3 June 2020

Brian K Kaspar

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Adrian M Isaacs

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Sherif F El-Khamisy

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

language of work or name

English

0 references

publication date

5 July 2017

1 reference

29 July 2017

Nature Communications

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

page(s)

16063

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

3 June 2020

copyright license

start time

5 July 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ncomms16063

0 references

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5 July 2018

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Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions

5 July 2018

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C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

5 July 2018

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Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.

5 July 2018

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Luzp4 defines a new mRNA export pathway in cancer cells

5 July 2018

1 reference

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C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

5 July 2018

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Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art.

5 July 2018

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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

5 July 2018

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Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

5 July 2018

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Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS

5 July 2018

1 reference

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Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

5 July 2018

1 reference

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RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

5 July 2018

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Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion

5 July 2018

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RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

5 July 2018

1 reference

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CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome

5 July 2018

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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

5 July 2018

1 reference

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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

5 July 2018

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Chtop is a component of the dynamic TREX mRNA export complex

5 July 2018

1 reference

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TREX exposes the RNA-binding domain of Nxf1 to enable mRNA export

5 July 2018

1 reference

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Gene expression profiling in human neurodegenerative disease

5 July 2018

1 reference

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Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

IGD: a resource for intronless genes in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Robust RT-qPCR data normalization: validation and selection of internal reference genes during post-experimental data analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Non-ATG-initiated translation directed by microsatellite expansions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

UIF, a New mRNA export adaptor that works together with REF/ALY, requires FACT for recruitment to mRNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Adaptor Aly and co-adaptor Thoc5 function in the Tap-p15-mediated nuclear export of HSP70 mRNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Mutually exclusive interactions drive handover of mRNA from export adaptors to TAP

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Structural and functional analysis of RNA and TAP binding to SF2/ASF

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

The solution structure of REF2-I reveals interdomain interactions and regions involved in binding mRNA export factors and RNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

The crystal structure of the exon junction complex reveals how it maintains a stable grip on mRNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Recruitment of the human TREX complex to mRNA during splicing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

A molecular link between SR protein dephosphorylation and mRNA export

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

The Ref/Aly proteins are dispensable for mRNA export and development in Caenorhabditis elegans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Mitochondrial pathology and apoptotic muscle degeneration in Drosophila parkin mutants

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

REF1/Aly and the additional exon junction complex proteins are dispensable for nuclear mRNA export

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Directed differentiation of embryonic stem cells into motor neurons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

REF, an evolutionary conserved family of hnRNP-like proteins, interacts with TAP/Mex67p and participates in mRNA nuclear export.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Self-inactivating lentiviral vectors with enhanced transgene expression as potential gene transfer system in Parkinson's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS16063

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS16063

C9orf72 is required for proper macrophage and microglial function in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS16063

C9orf72 plays a central role in Rab GTPase-dependent regulation of autophagy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS16063

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS16063

SR splicing factors serve as adapter proteins for TAP-dependent mRNA export

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS16063

RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS16063

Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS16063

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5504286

Intrinsic GTP hydrolysis is observed for a switch 1 variant of Cdc42 in the presence of a specific GTPase inhibitor.

29 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS16063

inferred from DOI database lookup

7 January 2021

based on heuristic

Structure and function of mRNA export adaptors

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS16063

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NCOMMS16063

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 June 2020

ADS bibcode

2017NatCo...816063H

0 references

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28677678%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference