(Q33816985)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Mikio Shimada

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

John Petrini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

John L. Nitiss

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

3

Karin C Nitiss

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

author name string

Youngsoo Lee

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Susanna M Downing

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Yang Li

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Jingfeng Zhao

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Helen R Russell

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Peter J McKinnon

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

language of work or name

English

0 references

publication date

4 May 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

page(s)

813-821

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

17 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4074009/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Maintaining genome stability in the nervous system

1 reference

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Topoisomerases facilitate transcription of long genes linked to autism

28 July 2018

1 reference

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Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

De Novo Gene Disruptions in Children on the Autistic Spectrum

28 July 2018

1 reference

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ATR maintains select progenitors during nervous system development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

All tangled up: how cells direct, manage and exploit topoisomerase function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

SUMO-targeted ubiquitin ligase, Rad60, and Nse2 SUMO ligase suppress spontaneous Top1-mediated DNA damage and genome instability

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

The MRE11 complex: starting from the ends.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Transcription-dependent activation of ataxia telangiectasia mutated prevents DNA-dependent protein kinase-mediated cell death in response to topoisomerase I poison

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Optimal function of the DNA repair enzyme TDP1 requires its phosphorylation by ATM and/or DNA-PK

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Proteasome-dependent processing of topoisomerase I-DNA adducts into DNA double strand breaks at arrested replication forks

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

The genesis of cerebellar interneurons and the prevention of neural DNA damage require XRCC1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Differential DNA damage signaling accounts for distinct neural apoptotic responses in ATLD and NBS

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Single-strand break repair and genetic disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

A ubiquitin-proteasome pathway for the repair of topoisomerase I-DNA covalent complexes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

TDP1 facilitates chromosomal single-strand break repair in neurons and is neuroprotective in vivo

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Topoisomerase I inhibitors: camptothecins and beyond

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Repair of topoisomerase I-mediated DNA damage

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

The role of double-strand break repair — insights from human genetics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Identification and characterization of a novel and specific inhibitor of the ataxia-telangiectasia mutated kinase ATM

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Gene regulation and DNA damage in the ageing human brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Chk2-deficient mice exhibit radioresistance and defective p53-mediated transcription

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Oxidatively modified proteins in aging and disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

SUMO-1 conjugation to topoisomerase I: A possible repair response to topoisomerase-mediated DNA damage

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

Effects of uracil incorporation, DNA mismatches, and abasic sites on cleavage and religation activities of mammalian topoisomerase I.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074009

DNA repair deficiency and neurological disease

28 July 2018

1 reference

The DNA-damage response in human biology and disease

21 January 2018

1 reference

Responding to DNA double strand breaks in the nervous system

21 January 2018

1 reference

ATM and the molecular pathogenesis of ataxia telangiectasia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Cellular roles of dna topoisomerases: a molecular perspective

21 January 2018

1 reference

TDP1 serine 81 promotes interaction with DNA ligase IIIalpha and facilitates cell survival following DNA damage

21 January 2018

1 reference

Patterns and rates of exonic de novo mutations in autism spectrum disorders

21 January 2018

1 reference

Top3β is an RNA topoisomerase that works with fragile X syndrome protein to promote synapse formation

21 January 2018

1 reference

Camptothecin induces protein-linked DNA breaks via mammalian DNA topoisomerase I

21 January 2018

1 reference

12 December 2020

DNA looping alters local DNA conformation during transcription

1 reference

12 December 2020

Trapping of mammalian topoisomerase I and recombinations induced by damaged DNA containing nicks or gaps. Importance of DNA end phosphorylation and camptothecin effects

1 reference

12 December 2020

Ultraviolet-induced DNA damage stimulates topoisomerase I-DNA complex formation in vivo: possible relationship with DNA repair

1 reference

12 December 2020

Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder

1 reference

12 December 2020

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NN.3715

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

PubMed publication ID

24793032

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793032%20AND%20SRC:MED&resulttype=core&format=json