The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis. (Q51015194)

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19 March 2020

title

The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis (English)

1 reference

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amyotrophic lateral sclerosis

19 March 2020

main subject

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author

Anna Konopka

2

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19 March 2020

Julie D Atkin

5

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19 March 2020

author name string

Manal A Farg

1

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19 March 2020

Kai Ying Soo

3

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19 March 2020

Daisuke Ito

4

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19 March 2020

publication date

1 August 2017

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19 March 2020

published in

Human Molecular Genetics

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19 March 2020

volume

26

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19 March 2020

issue

15

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19 March 2020

page(s)

2882-2896

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

19 March 2020

cites work

1 reference

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

21 January 2018

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

21 January 2018

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C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

21 January 2018

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Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

21 January 2018

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The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

21 January 2018

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Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients

21 January 2018

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

21 January 2018

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Cotranscriptionally Formed DNA:RNA Hybrids Mediate Transcription Elongation Impairment and Transcription-Associated Recombination

21 January 2018

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Gamma-H2AX in recognition and signaling of DNA double-strand breaks in the context of chromatin

21 January 2018

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DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139

21 January 2018

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Histone H2AX phosphorylation: a marker for DNA damage

21 January 2018

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A critical role for histone H2AX in recruitment of repair factors to nuclear foci after DNA damage

21 January 2018

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Activation and regulation of ATM kinase activity in response to DNA double-strand breaks

21 January 2018

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The caspase-cleaved DAP5 protein supports internal ribosome entry site-mediated translation of death proteins

21 January 2018

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Poly(ADP-ribose) polymerase-1 activation during DNA damage and repair

21 January 2018

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Recruitment of phosphorylated NPM1 to sites of DNA damage through RNF8-dependent ubiquitin conjugates

21 January 2018

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Nucleolar protein B23/nucleophosmin regulates the vertebrate SUMO pathway through SENP3 and SENP5 proteases

21 January 2018

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The nucleolar SUMO-specific protease SENP3 reverses SUMO modification of nucleophosmin and is required for rRNA processing

21 January 2018

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Base excision repair of oxidative DNA damage coupled with removal of a CAG repeat hairpin attenuates trinucleotide repeat expansion

21 January 2018

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APE1/Ref-1 interacts with NPM1 within nucleoli and plays a role in the rRNA quality control process.

21 January 2018

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Functional regulation of the apurinic/apyrimidinic endonuclease 1 by nucleophosmin: impact on tumor biology.

21 January 2018

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Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons.

21 January 2018

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ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects

21 January 2018

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Use of the γ-H2AX assay to monitor DNA damage and repair in translational cancer research

21 January 2018

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21 January 2018

Nucleophosmin and cancer

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Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosis.

21 January 2018

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DNA base-excision repair enzyme apurinic/apyrimidinic endonuclease/redox factor-1 is increased and competent in the brain and spinal cord of individuals with amyotrophic lateral sclerosis.

21 January 2018

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Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

21 January 2018

1 reference

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Increased SOD1 association with chromatin, DNA damage, p53 activation, and apoptosis in a cellular model of SOD1-linked ALS.

21 January 2018

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The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair

21 January 2018

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NEK1 mutations in familial amyotrophic lateral sclerosis.

21 January 2018

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Nek1 kinase functions in DNA damage response and checkpoint control through a pathway independent of ATM and ATR

21 January 2018

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Quantitative proteomics and dynamic imaging of the nucleolus reveal distinct responses to UV and ionizing radiation.

21 January 2018

1 reference

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Emerging roles of the nucleolus in regulating the DNA damage response: the noncanonical DNA repair enzyme APE1/Ref-1 as a paradigmatical example

21 January 2018

1 reference

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R loops: from transcription byproducts to threats to genome stability

21 January 2018

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Ape1/Ref-1 induces glial cell-derived neurotropic factor (GDNF) responsiveness by upregulating GDNF receptor alpha1 expression

21 January 2018

1 reference

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APE1 overexpression in XRCC1-deficient cells complements the defective repair of oxidative single strand breaks but increases genomic instability

21 January 2018

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Nucleolin and nucleophosmin: nucleolar proteins with multiple functions in DNA repair

21 January 2018

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Lack of changes in the PI3K/AKT survival pathway in the spinal cord motor neurons of a mouse model of familial amyotrophic lateral sclerosis.

21 January 2018

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Nucleophosmin modulates stability, activity, and nucleolar accumulation of base excision repair proteins.

21 January 2018

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

21 January 2018

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Nucleolar Disruption in Dopaminergic Neurons Leads to Oxidative Damage and Parkinsonism through Repression of Mammalian Target of Rapamycin Signaling

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDX170

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28481984%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference