(Q40120242)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28714954%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

title

C9orf72 expansion disrupts ATM-mediated chromosomal break repair (English)

1 reference

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25 March 2020

9

1 reference

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25 March 2020

Kurt J De Vos

16

1 reference

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25 March 2020

Mimoun Azzouz

21

1 reference

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25 March 2020

Katherine E Lewis

5

1 reference

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25 March 2020

Ioannis Tsagakis

12

1 reference

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25 March 2020

Pamela Shaw

19

1 reference

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25 March 2020

Guillaume M Hautbergue

20

1 reference

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25 March 2020

Sherif Faruk El-Khamisy

22

1 reference

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25 March 2020

author name string

Callum Walker

1

1 reference

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25 March 2020

Saul Herranz-Martin

2

1 reference

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25 March 2020

Evangelia Karyka

3

1 reference

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25 March 2020

Chunyan Liao

4

1 reference

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25 March 2020

Waheba Elsayed

6

1 reference

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25 March 2020

Vera Lukashchuk

7

1 reference

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25 March 2020

Shih-Chieh Chiang

8

1 reference

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25 March 2020

Padraig J Mulcahy

10

1 reference

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25 March 2020

Mateusz Jurga

11

1 reference

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25 March 2020

Tommaso Iannitti

13

1 reference

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25 March 2020

Jayanth Chandran

14

1 reference

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25 March 2020

Ian Coldicott

15

1 reference

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25 March 2020

Mohamed K Hassan

17

1 reference

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25 March 2020

Adrian Higginbottom

18

1 reference

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25 March 2020

language of work or name

English

0 references

publication date

17 July 2017

1 reference

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25 March 2020

1 reference

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25 March 2020

volume

20

1 reference

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25 March 2020

issue

9

1 reference

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25 March 2020

page(s)

1225-1235

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28714954%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial protein-linked DNA breaks perturb mitochondrial gene transcription and trigger free radical-induced DNA damage.

25 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Epigenetic changes in histone acetylation underpin resistance to the topoisomerase I inhibitor irinotecan

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Prevalent, Dynamic, and Conserved R-Loop Structures Associate with Specific Epigenomic Signatures in Mammals

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Regulation of DNA double-strand break repair by ubiquitin and ubiquitin-like modifiers.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Bidirectional coupling of splicing and ATM signaling in response to transcription-blocking DNA damage

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

The core spliceosome as target and effector of non-canonical ATM signalling.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Topoisomerase-mediated chromosomal break repair: an emerging player in many games

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Out of balance: R-loops in human disease

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Changes in chromatin structure in NIH 3T3 cells induced by valproic acid and trichostatin A.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Aberrant topoisomerase-1 DNA lesions are pathogenic in neurodegenerative genome instability syndromes

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Genome-wide profiling of yeast DNA:RNA hybrid prone sites with DRIP-chip

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Partial inhibition of Cdk1 in G 2 phase overrides the SAC and decouples mitotic events.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

RNF168 ubiquitylates 53BP1 and controls its response to DNA double-strand breaks

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

R loops are linked to histone H3 S10 phosphorylation and chromatin condensation

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Alzheimer disease and amyotrophic lateral sclerosis: an etiopathogenic connection

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

53BP1 is a reader of the DNA-damage-induced H2A Lys 15 ubiquitin mark

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

ATM deficiency results in accumulation of DNA-topoisomerase I covalent intermediates in neural cells

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

The ATM protein kinase: regulating the cellular response to genotoxic stress, and more

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

R loops: from transcription byproducts to threats to genome stability

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Optimised and rapid pre-clinical screening in the SOD1(G93A) transgenic mouse model of amyotrophic lateral sclerosis (ALS).

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Replication stress induces 53BP1-containing OPT domains in G1 cells

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

ATM-dependent chromatin changes silence transcription in cis to DNA double-strand breaks

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

53BP1 promotes ATM activity through direct interactions with the MRN complex

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

RNF168 binds and amplifies ubiquitin conjugates on damaged chromosomes to allow accumulation of repair proteins

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

An infinitely expandable cloning strategy plus repeat-proof PCR for working with multiple shRNA.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

ATM signaling facilitates repair of DNA double-strand breaks associated with heterochromatin

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Mechanism of R-loop formation at immunoglobulin class switch sequences

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Attenuated DNA damage repair by trichostatin A through BRCA1 suppression

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

An essential function for NBS1 in the prevention of ataxia and cerebellar defects

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

ATM and the Molecular Pathogenesis of Ataxia Telangiectasia

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

To live or to die: a matter of processing damaged DNA termini in neurons

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

53BP1-dependent robust localized KAP-1 phosphorylation is essential for heterochromatic DNA double-strand break repair

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Autophagy Regulates Chromatin Ubiquitination in DNA Damage Response through Elimination of SQSTM1/p62.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

BRCA2 prevents R-loop accumulation and associates with TREX-2 mRNA export factor PCID2.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

ATM mediates interdependent activation of p53 and ERK through formation of a ternary complex with p-p53 and p-ERK in response to DNA damage.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5578434

Second-generation Irish genome-wide association study for amyotrophic lateral sclerosis

20 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNN.4604

Pure cerebellar ataxia linked to large C9orf72 repeat expansion

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNN.4604

21 January 2018

Identifiers

DOI

10.1038/NN.4604

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28714954%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

25 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28714954%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

PubMed publication ID

28714954

1 reference