XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia (Q30176415)

24 September 2017

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia (English)

1 reference

Polynucleotide kinase 3'-phosphatase

24 September 2017

0 references

1 reference

Poly(ADP-ribose) polymerase 1

1 reference

X-ray repair cross complementing 1

1 reference

negative regulation of protein ADP-ribosylation

1 reference

X-ray repair complementing defective repair in Chinese hamster cells 1

1 reference

Poly [ADP-ribose] polymerase 1

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Hana Hanzlíková

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Kevin Staras

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

author name string

Stuart L Rulten

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Martine Tétreault

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Emilia Komulainen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Limei Ju

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Peter Hornyak

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Zhihong Zeng

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

William Gittens

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Stephanie A Rey

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Grazia M S Mancini

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Peter J McKinnon

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Zhao-Qi Wang

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Justin D Wagner

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Care4Rare Canada Consortium

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Grace Yoon

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Keith W Caldecott

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

language of work or name

English

0 references

publication date

21 December 2016

1 reference

24 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

541

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

issue

7635

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

page(s)

87-91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

8 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5218588/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

Improving CRISPR-Cas nuclease specificity using truncated guide RNAs

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

RNA-guided human genome engineering via Cas9

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

DNA 3'-phosphatase activity is critical for rapid global rates of single-strand break repair following oxidative stress

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

Single-strand break repair and genetic disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

XRCC1 and DNA strand break repair

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

Poly(ADP-ribose) polymerase: killer or conspirator? The 'suicide hypothesis' revisited

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

Requirement for the Xrcc1 DNA base excision repair gene during early mouse development

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

Involvement of XRCC1 and DNA ligase III gene products in DNA base excision repair.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

Characterization of the XRCC1-DNA ligase III complex in vitro and its absence from mutant hamster cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

Mice lacking ADPRT and poly(ADP-ribosyl)ation develop normally but are susceptible to skin disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

Measurement of sister chromatid exchanges at very low bromodeoxyuridine substitution levels using a monoclonal antibody in Chinese hamster ovary cells.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

X-ray induced DNA double strand break production and repair in mammalian cells as measured by neutral filter elution

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5218588

Rescue of Xrcc1 knockout mouse embryo lethality by transgene-complementation.

3 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE20790

Poly(ADP-ribose) polymerase gene disruption renders mice resistant to cerebral ischemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE20790

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE20790

Measurement of chromosomal DNA single-strand breaks and replication fork progression rates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE20790

The relationship between sister-chromatid exchange and perturbations in DNA replication in mutant EM9 and normal CHO cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE20790

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NATURE20790

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

8 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28002403%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

PubMed publication ID

28002403

1 reference