(Q57471221)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30322030%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

1 reference

19 July 2022

The Emerging Role of DNA Damage in the Pathogenesis of the C9orf72 Repeat Expansion in Amyotrophic Lateral Sclerosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30322030%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

28 April 2020

main subject

1 reference

guanine nucleotide exchange C9orf72

25 July 2020

1 reference

25 July 2020

1 reference

24 January 2021

1 reference

21 April 2021

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30322030%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

Julie D Atkin

series ordinal

2

1 reference

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28 April 2020

author name string

Anna Konopka

series ordinal

1

0 references

Julie D Atkin

series ordinal

2

0 references

language of work or name

English

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publication date

12 October 2018

5 references

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28 April 2020

25 July 2020

24 January 2021

21 April 2021

19 July 2022

International Journal of Molecular Sciences

5 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30322030%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

25 July 2020

24 January 2021

21 April 2021

19 July 2022

19

1 reference

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28 April 2020

issue

10

1 reference

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Creative Commons Attribution

28 April 2020

copyright license

4 references

25 July 2020

24 January 2021

21 April 2021

19 July 2022

0 references

Abnormal excitability of the corticospinal pathway in patients with amyotrophic lateral sclerosis: a single motor unit study using transcranial magnetic stimulation

1 reference

12 December 2020

Evidence of Increased Oxidative Damage in Both Sporadic and Familial Amyotrophic Lateral Sclerosis

1 reference

12 December 2020

Mutant AP endonuclease in patients with amyotrophic lateral sclerosis

1 reference

12 December 2020

A chemical inhibitor of p53 that protects mice from the side effects of cancer therapy

1 reference

12 December 2020

Suppression of p53: a new approach to overcome side effects of antitumor therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

R-loops at immunoglobulin class switch regions in the chromosomes of stimulated B cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Widespread increased expression of the DNA repair enzyme PARP in brain in ALS

1 reference

12 December 2020

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

1 reference

12 December 2020

Dynamic sorting of nuclear components into distinct nucleolar caps during transcriptional inhibition

1 reference

12 December 2020

Slipped (CTG)*(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair

1 reference

12 December 2020

Imbalanced excitatory to inhibitory synaptic input precedes motor neuron degeneration in an animal model of amyotrophic lateral sclerosis

1 reference

12 December 2020

Repeat instability: mechanisms of dynamic mutations

1 reference

12 December 2020

Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1.

1 reference

12 December 2020

DNA damage checkpoint, damage repair, and genome stability

1 reference

12 December 2020

Role of transcription factor activator protein 1 (AP1) in epidermal growth factor-mediated protection against apoptosis induced by a DNA-damaging agent

1 reference

12 December 2020

Motor neuron degeneration in amyotrophic lateral sclerosis mutant superoxide dismutase-1 transgenic mice: mechanisms of mitochondriopathy and cell death.

1 reference

12 December 2020

G-quadruplexes in promoters throughout the human genome

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Transgenic mice with human mutant genes causing Parkinson's disease and amyotrophic lateral sclerosis provide common insight into mechanisms of motor neuron selective vulnerability to degeneration

1 reference

12 December 2020

Discovery of alternative DNA structures: a heroic decade (1979-1989).

1 reference

12 December 2020

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

1 reference

12 December 2020

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

DNA damage and repair: relevance to mechanisms of neurodegeneration

1 reference

12 December 2020

Identification and characterization of FUS/TLS as a new target of ATM.

1 reference

12 December 2020

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies

1 reference

12 December 2020

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

1 reference

12 December 2020

Amyotrophic lateral sclerosis

1 reference

12 December 2020

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

1 reference

12 December 2020

Ataxia telangiectasia mutated activation by transcription- and topoisomerase I-induced DNA double-strand breaks

1 reference

12 December 2020

Growth control and ribosome biogenesis.

1 reference

12 December 2020

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

1 reference

12 December 2020

New insights into biological markers of frontotemporal lobar degeneration spectrum

1 reference

12 December 2020

Repeat expansion disease: progress and puzzles in disease pathogenesis

1 reference

12 December 2020

Mice with DNA repair gene Ercc1 deficiency in a neural crest lineage are a model for late-onset Hirschsprung disease

1 reference

12 December 2020

RNA-mediated neurodegeneration in repeat expansion disorders

1 reference

12 December 2020

Mutations of optineurin in amyotrophic lateral sclerosis

1 reference

12 December 2020

p53-based cancer therapy

1 reference

12 December 2020

DNA damage and impairment of DNA repair in Alzheimer's disease

1 reference

12 December 2020

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

1 reference

12 December 2020

The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation

1 reference

12 December 2020

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

1 reference

12 December 2020

G‐quadruplex nucleic acids and human disease

1 reference

12 December 2020

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

1 reference

12 December 2020

NPM1/B23: A Multifunctional Chaperone in Ribosome Biogenesis and Chromatin Remodeling

1 reference

12 December 2020

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

1 reference

12 December 2020

Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS.

1 reference

12 December 2020

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

1 reference

12 December 2020

Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination

1 reference

12 December 2020

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

ATM and the Molecular Pathogenesis of Ataxia Telangiectasia

1 reference

12 December 2020

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

FET proteins in frontotemporal dementia and amyotrophic lateral sclerosis

1 reference

12 December 2020

Oxidative genome damage and its repair: implications in aging and neurodegenerative diseases.

1 reference

12 December 2020

R-loop formation is a distinctive characteristic of unmethylated human CpG island promoters

1 reference

12 December 2020

Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease

1 reference

12 December 2020

R loops: from transcription byproducts to threats to genome stability

1 reference

12 December 2020

Impaired proteasome function in sporadic amyotrophic lateral sclerosis.

1 reference

12 December 2020

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

1 reference

12 December 2020

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype

1 reference

12 December 2020

Amyotrophic lateral sclerosis

1 reference

12 December 2020

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.

1 reference

12 December 2020

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia

1 reference

12 December 2020

A cyclin without cyclin-dependent kinases: cyclin F controls genome stability through ubiquitin-mediated proteolysis.

1 reference

12 December 2020

Base excision repair in physiology and pathology of the central nervous system

1 reference

12 December 2020

Bipolar affective disorder preceding frontotemporal dementia in a patient with C9ORF72 mutation: is there a genetic link between these two disorders?

1 reference

12 December 2020

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

1 reference

12 December 2020

Physiologic brain activity causes DNA double-strand breaks in neurons, with exacerbation by amyloid-β

1 reference

12 December 2020

Role of p97/VCP (Cdc48) in genome stability

1 reference

12 December 2020

Protein aggregation in amyotrophic lateral sclerosis.

1 reference

12 December 2020

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

1 reference

12 December 2020

The mTOR pathway negatively controls ATM by up-regulating miRNAs.

1 reference

12 December 2020

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

1 reference

12 December 2020

Repeat-associated non-ATG (RAN) translation in neurological disease

1 reference

12 December 2020

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

1 reference

12 December 2020

Tumor protein D52 represents a negative regulator of ATM protein levels.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Neuroprotective effects of the Sigma-1 receptor (S1R) agonist PRE-084, in a mouse model of motor neuron disease not linked to SOD1 mutation.

1 reference

12 December 2020

Mitochondrial dysfunction in amyotrophic lateral sclerosis - a valid pharmacological target?

1 reference

12 December 2020

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

1 reference

12 December 2020

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

C9ORF72 hexanucleotide repeat expansion as a rare cause of bipolar disorder

1 reference

12 December 2020

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

1 reference

12 December 2020

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

1 reference

12 December 2020

C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia

1 reference

12 December 2020

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

1 reference

12 December 2020

Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile

1 reference

12 December 2020

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

1 reference

12 December 2020

Expression and Prognostic Significance of APE1/Ref-1 and NPM1 Proteins in High-Grade Ovarian Serous Cancer

1 reference

12 December 2020

DNA damage: RNA-binding proteins protect from near and far.

1 reference

12 December 2020

RNA metabolism in ALS: when normal processes become pathological.

1 reference

12 December 2020

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

1 reference

12 December 2020

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

1 reference

12 December 2020

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

1 reference

12 December 2020

The contribution of co-transcriptional RNA:DNA hybrid structures to DNA damage and genome instability

1 reference

12 December 2020

Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.

1 reference

12 December 2020

R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.

1 reference

12 December 2020

The role of oxidative stress in degeneration of the neuromuscular junction in amyotrophic lateral sclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

FUS is phosphorylated by DNA-PK and accumulates in the cytoplasm after DNA damage

1 reference

12 December 2020

DNA damage and its links to neurodegeneration

1 reference

12 December 2020

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Chromatin regulation of DNA damage repair and genome integrity in the central nervous system

1 reference

12 December 2020

PNA binding to the non-template DNA strand interferes with transcription, suggesting a blockage mechanism mediated by R-loop formation

1 reference

12 December 2020

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

1 reference

12 December 2020

Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene

1 reference

12 December 2020

R-loops induce repressive chromatin marks over mammalian gene terminators

1 reference

12 December 2020

Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

1 reference

12 December 2020

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

1 reference

12 December 2020

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

1 reference

12 December 2020

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

1 reference

12 December 2020

G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome

1 reference

12 December 2020

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

1 reference

12 December 2020

Error-Prone Repair of DNA Double-Strand Breaks

1 reference

12 December 2020

Activity-Induced DNA Breaks Govern the Expression of Neuronal Early-Response Genes

1 reference

12 December 2020

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.

1 reference

12 December 2020

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

1 reference

12 December 2020

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

1 reference

12 December 2020

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

1 reference

12 December 2020

Topology of a G-quadruplex DNA formed by C9orf72 hexanucleotide repeats associated with ALS and FTD.

1 reference

12 December 2020

Pure cerebellar ataxia linked to large C9orf72 repeat expansion

1 reference

12 December 2020

NEK1 mutations in familial amyotrophic lateral sclerosis

1 reference

12 December 2020

C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.

1 reference

12 December 2020

Protein Folding Alterations in Amyotrophic Lateral Sclerosis.

1 reference

12 December 2020

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

1 reference

12 December 2020

ALS: Recent Developments from Genetics Studies

1 reference

12 December 2020

Nek1 Regulates Rad54 to Orchestrate Homologous Recombination and Replication Fork Stability

1 reference

12 December 2020

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

1 reference

12 December 2020

R Loops and Links to Human Disease

1 reference

12 December 2020

The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains.

1 reference

12 December 2020

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

1 reference

12 December 2020

C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles

1 reference

12 December 2020

Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration

1 reference

12 December 2020

Two familial ALS proteins function in prevention/repair of transcription-associated DNA damage

1 reference

12 December 2020

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

1 reference

12 December 2020

Crosstalk between the nucleolus and the DNA damage response.

1 reference

12 December 2020

Relationship between C9orf72 repeat size and clinical phenotype

1 reference

12 December 2020

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

1 reference

12 December 2020

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

1 reference

12 December 2020

RNA metabolism in neurodegenerative disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Energy Homeostasis and Abnormal RNA Metabolism in Amyotrophic Lateral Sclerosis

1 reference

12 December 2020

Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum

1 reference

12 December 2020

Telomere Length Determines TERRA and R-Loop Regulation through the Cell Cycle

1 reference

12 December 2020

C9orf72 expansion disrupts ATM-mediated chromosomal break repair.

1 reference

12 December 2020

Autophagy Dysregulation in ALS: When Protein Aggregates Get Out of Hand

1 reference

12 December 2020

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS.

1 reference

12 December 2020

Als and Ftd: Insights into the disease mechanisms and therapeutic targets

1 reference

12 December 2020

G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.

1 reference

12 December 2020

RBM45 competes with HDAC1 for binding to FUS in response to DNA damage

1 reference

12 December 2020

Antisense oligonucleotides: the next frontier for treatment of neurological disorders

1 reference

12 December 2020

C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation.

1 reference

12 December 2020

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts.

1 reference

12 December 2020

Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.

1 reference

12 December 2020

Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD.

1 reference

12 December 2020

Disease-modifying and symptomatic treatment of amyotrophic lateral sclerosis

1 reference

12 December 2020

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.

1 reference

12 December 2020

C9ORF72 dipeptide repeat poly-GA inclusions promote intracellular aggregation of phosphorylated TDP-43

1 reference

12 December 2020

Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress

1 reference

12 December 2020

NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons

1 reference

12 December 2020

Mutant FUS causes DNA ligation defects to inhibit oxidative damage repair in Amyotrophic Lateral Sclerosis

1 reference

12 December 2020

Identifiers

DOI

10.3390/IJMS19103137

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30322030%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30322030%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

PubMed publication ID

30322030

1 reference