Single-strand break repair and genetic disease (Q29615347)

Europe PubMed Central

title

Single-strand break repair and genetic disease (English)

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30 April 2017

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Caldecott KW

1

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=18626472

30 April 2017

language of work or name

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30 April 2017

publication date

August 2008

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30 April 2017

published in

Nature Reviews Genetics

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30 April 2017

volume

9

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30 April 2017

page(s)

619-31

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30 April 2017

issue

8

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

30 April 2017

cites work

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Dynamics and diversions in base excision DNA repair of oxidized abasic lesions

31 March 2020

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Early steps in the DNA base excision/single-strand interruption repair pathway in mammalian cells

31 March 2020

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Oxidative Strand Scission of Nucleic Acids: Routes Initiated by Hydrogen Abstraction from the Sugar Moiety

31 March 2020

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Cellular roles of dna topoisomerases: a molecular perspective

31 March 2020

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Repair of and checkpoint response to topoisomerase I-mediated DNA damage

31 March 2020

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

31 March 2020

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Fragmentation of replicating chromosomes triggered by uracil in DNA.

31 March 2020

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Single-strand interruptions in replicating chromosomes cause double-strand breaks

31 March 2020

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Camptothecin-stabilized topoisomerase I-DNA adducts cause premature termination of transcription

31 March 2020

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Effects of abasic sites and DNA single-strand breaks on prokaryotic RNA polymerases

31 March 2020

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Transcription bypass or blockage at single-strand breaks on the DNA template strand: effect of different 3' and 5' flanking groups on the T7 RNA polymerase elongation complex

31 March 2020

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Single-stranded breaks in DNA but not oxidative DNA base damages block transcriptional elongation by RNA polymerase II in HeLa cell nuclear extracts.

31 March 2020

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Poly(ADP-ribose) makes a date with death

31 March 2020

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Poly(ADP-ribose)polymerase 1 (PARP-1) and postischemic brain damage

31 March 2020

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31 March 2020

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Poly(ADP-ribosyl)ation by PARP-1: 'PAR-laying' NAD+ into a nuclear signal

31 March 2020

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Importance of poly(ADP-ribose) glycohydrolase in the control of poly(ADP-ribose) metabolism.

31 March 2020

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(ADP-ribose)n participates in DNA excision repair

31 March 2020

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Poly(ADP-ribose) polymerase-1 protects excessive DNA strand breaks from deterioration during repair in human cell extracts

31 March 2020

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DNA-bound structures and mutants reveal abasic DNA binding by APE1 and DNA repair coordination [corrected]

31 March 2020

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Holding damaged DNA together

31 March 2020

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Functional sites of interaction between release factor RF1 and the ribosome

31 March 2020

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The effect of inhibition of (ADP-ribose)n biosynthesis on DNA repair assayed by the nucleoid technique

31 March 2020

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Role of poly(adenosine diphosphate ribose) in deoxyribonucleic acid repair in human fibroblasts

31 March 2020

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Poly(ADP-ribosylation) reduces the steady-state level of breaks in DNA following treatment of human cells with alkylating agents

31 March 2020

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Hydrogen peroxide-induced injury of cells and its prevention by inhibitors of poly(ADP-ribose) polymerase

31 March 2020

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Poly(ADP-ribose) polymerase 1 accelerates single-strand break repair in concert with poly(ADP-ribose) glycohydrolase

31 March 2020

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Poly(ADP-ribose) polymerase-1 (PARP-1) is required in murine cell lines for base excision repair of oxidative DNA damage in the absence of DNA polymerase beta

31 March 2020

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DNA repair defect in poly(ADP-ribose) polymerase-deficient cell lines

31 March 2020

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Altered poly(ADP-ribose) metabolism impairs cellular responses to genotoxic stress in a hypomorphic mutant of poly(ADP-ribose) glycohydrolase

31 March 2020

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Poly(ADP-ribose) binds to specific domains in DNA damage checkpoint proteins

31 March 2020

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A requirement for PARP-1 for the assembly or stability of XRCC1 nuclear foci at sites of oxidative DNA damage

31 March 2020

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In situ analysis of repair processes for oxidative DNA damage in mammalian cells.

31 March 2020

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Spatial and temporal cellular responses to single-strand breaks in human cells.

31 March 2020

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XRCC1 polypeptide interacts with DNA polymerase beta and possibly poly (ADP-ribose) polymerase, and DNA ligase III is a novel molecular 'nick-sensor' in vitro

31 March 2020

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XRCC1 is specifically associated with poly(ADP-ribose) polymerase and negatively regulates its activity following DNA damage

31 March 2020

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XRCC1 and DNA strand break repair

31 March 2020

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Co-ordination of DNA single strand break repair

31 March 2020

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Poly(ADP-ribosyl)ation of polynucleosomes causes relaxation of chromatin structure

31 March 2020

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Chromatin loosening by poly(ADP)-ribose polymerase (PARP) at Drosophila puff loci

31 March 2020

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The Drosophila heterochromatic gene encoding poly(ADP-ribose) polymerase (PARP) is required to modulate chromatin structure during development

31 March 2020

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Release of core DNA from nucleosomal core particles following (ADP-ribose)n-modification in vitro

31 March 2020

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Mammalian single-strand break repair: mechanisms and links with chromatin

31 March 2020

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Base excision repair is impaired in mammalian cells lacking Poly(ADP-ribose) polymerase-1.

31 March 2020

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DNA polymerase beta -mediated long patch base excision repair. Poly(ADP-ribose)polymerase-1 stimulates strand displacement DNA synthesis.

31 March 2020

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Down-regulation of DNA repair synthesis at DNA single-strand interruptions in poly(ADP-ribose) polymerase-1 deficient murine cell extracts

31 March 2020

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ATP for the DNA ligation step in base excision repair is generated from poly(ADP-ribose).

31 March 2020

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ATP-dependent selection between single nucleotide and long patch base excision repair.

31 March 2020

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Post-translational modification of poly(ADP-ribose) polymerase induced by DNA strand breaks

31 March 2020

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The lyase activity of the DNA repair protein beta-polymerase protects from DNA-damage-induced cytotoxicity

31 March 2020

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Human methyl purine DNA glycosylase and DNA polymerase beta expression collectively predict sensitivity to temozolomide

31 March 2020

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Base excision repair intermediates induce p53-independent cytotoxic and genotoxic responses.

31 March 2020

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XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair

31 March 2020

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Molecular characterization of a human DNA kinase

31 March 2020

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Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage

31 March 2020

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Human HeLa cell enzymes that remove phosphoglycolate 3'-end groups from DNA

31 March 2020

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Removal of 3'-phosphoglycolate from DNA strand-break damage in an oligonucleotide substrate by recombinant human apurinic/apyrimidinic endonuclease 1

31 March 2020

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Two distinct human DNA diesterases that hydrolyze 3′-blocking deoxyribose fragments from oxidized DNA

31 March 2020

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APE1 is the major 3'-phosphoglycolate activity in human cell extracts

31 March 2020

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Excision of deoxyribose phosphate residues by DNA polymerase beta during DNA repair

31 March 2020

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Roles of base excision repair subpathways in correcting oxidized abasic sites in DNA.

31 March 2020

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AP endonuclease-independent DNA base excision repair in human cells

31 March 2020

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A eukaryotic enzyme that can disjoin dead-end covalent complexes between DNA and type I topoisomerases

31 March 2020

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Yeast gene for a Tyr-DNA phosphodiesterase that repairs topoisomerase I complexes

31 March 2020

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The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates

31 March 2020

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Actions of aprataxin in multiple DNA repair pathways

31 March 2020

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The protein kinase CK2 facilitates repair of chromosomal DNA single-strand breaks

31 March 2020

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The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4

31 March 2020

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Aprataxin, a novel protein that protects against genotoxic stress

31 March 2020

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A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment

31 March 2020

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Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein

31 March 2020

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Association of XRCC1 and tyrosyl DNA phosphodiesterase (Tdp1) for the repair of topoisomerase I-mediated DNA lesions

31 March 2020

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

31 March 2020

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XRCC1 stimulates polynucleotide kinase by enhancing its damage discrimination and displacement from DNA repair intermediates

31 March 2020

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DNA single-strand break repair is impaired in aprataxin-related ataxia.

31 March 2020

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DNA polymerase beta is required for efficient DNA strand break repair induced by methyl methanesulfonate but not by hydrogen peroxide.

31 March 2020

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The accumulation of MMS-induced single strand breaks in G1 phase is recombinogenic in DNA polymerase beta defective mammalian cells

31 March 2020

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Role for DNA polymerase beta in response to ionizing radiation

31 March 2020

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DNA polymerase lambda protects mouse fibroblasts against oxidative DNA damage and is recruited to sites of DNA damage/repair

31 March 2020

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Identification of an intrinsic 5'-deoxyribose-5-phosphate lyase activity in human DNA polymerase lambda: a possible role in base excision repair

31 March 2020

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5'-Deoxyribose phosphate lyase activity of human DNA polymerase iota in vitro

31 March 2020

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FEN1 stimulation of DNA polymerase beta mediates an excision step in mammalian long patch base excision repair.

31 March 2020

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Recruitment of DNA repair synthesis machinery to sites of DNA damage/repair in living human cells

31 March 2020

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Two Pathways for Base Excision Repair in Mammalian Cells

31 March 2020

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Second pathway for completion of human DNA base excision-repair: reconstitution with purified proteins and requirement for DNase IV (FEN1).

31 March 2020

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XRCC1 co-localizes and physically interacts with PCNA

31 March 2020

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Characterization of plant XRCC1 and its interaction with proliferating cell nuclear antigen.

31 March 2020

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Two DNA-binding and nick recognition modules in human DNA ligase III

31 March 2020

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Antisense-mediated decrease in DNA ligase III expression results in reduced mitochondrial DNA integrity

31 March 2020

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A novel interaction between DNA ligase III and DNA polymerase gamma plays an essential role in mitochondrial DNA stability

31 March 2020

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Differential recruitment of DNA Ligase I and III to DNA repair sites

31 March 2020

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

31 March 2020

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Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination

31 March 2020

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The DNA ligase III zinc finger stimulates binding to DNA secondary structure and promotes end joining

31 March 2020

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Role of the DNA ligase III zinc finger in polynucleotide binding and ligation.

31 March 2020

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DNA ligase III is recruited to DNA strand breaks by a zinc finger motif homologous to that of poly(ADP-ribose) polymerase. Identification of two functionally distinct DNA binding regions within DNA ligase III.

31 March 2020

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DNA ligase III as a candidate component of backup pathways of nonhomologous end joining

31 March 2020

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Involvement of poly(ADP-ribose) polymerase-1 and XRCC1/DNA ligase III in an alternative route for DNA double-strand breaks rejoining.

31 March 2020

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DNA damage levels and biochemical repair capacities associated with XRCC1 deficiency

31 March 2020

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Human Xip1 (C2orf13) is a novel regulator of cellular responses to DNA strand breaks

31 March 2020

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APLF (C2orf13) is a novel human protein involved in the cellular response to chromosomal DNA strand breaks

31 March 2020

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Poly(ADP-ribose) polymerase-2 (PARP-2) is required for efficient base excision DNA repair in association with PARP-1 and XRCC1

31 March 2020

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Chk2 mediates stabilization of the FoxM1 transcription factor to stimulate expression of DNA repair genes

31 March 2020

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Ischemic preconditioning induces XRCC1, DNA polymerase-beta, and DNA ligase III and correlates with enhanced base excision repair

31 March 2020

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APE/Ref-1 and the mammalian response to genotoxic stress

31 March 2020

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Acetylation regulates the DNA end-trimming activity of DNA polymerase beta

31 March 2020

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CHIP-mediated degradation and DNA damage-dependent stabilization regulate base excision repair proteins.

31 March 2020

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E2F1 regulates the base excision repair gene XRCC1 and promotes DNA repair

31 March 2020

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Terminally differentiated muscle cells are defective in base excision DNA repair and hypersensitive to oxygen injury.

31 March 2020

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Post-replicative base excision repair in replication foci

31 March 2020

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Human base excision repair complex is physically associated to DNA replication and cell cycle regulatory proteins

31 March 2020

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Mutation of a BRCT domain selectively disrupts DNA single-strand break repair in noncycling Chinese hamster ovary cells

31 March 2020

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A cell cycle-specific requirement for the XRCC1 BRCT II domain during mammalian DNA strand break repair

31 March 2020

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Mammalian DNA single-strand break repair: an X-ra(y)ted affair

31 March 2020

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DNA single-strand break repair and spinocerebellar ataxia

31 March 2020

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DNA single-strand breaks and neurodegeneration

31 March 2020

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Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia

31 March 2020

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Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families

31 March 2020

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Recessive ataxia with ocular apraxia: review of 22 Portuguese patients

31 March 2020

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Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity

31 March 2020

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Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

31 March 2020

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Aprataxin (APTX) gene mutations resembling multiple system atrophy

31 March 2020

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Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

31 March 2020

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Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

31 March 2020

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

31 March 2020

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

31 March 2020

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Aprataxin mutations are a rare cause of early onset ataxia in Germany

31 March 2020

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The FHA domain of aprataxin interacts with the C-terminal region of XRCC1

31 March 2020

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A novel human AP endonuclease with conserved zinc-finger-like motifs involved in DNA strand break responses

31 March 2020

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Xrcc4 physically links DNA end processing by polynucleotide kinase to DNA ligation by DNA ligase IV

31 March 2020

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Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription

31 March 2020

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Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin

31 March 2020

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Short half-lives of ataxia-associated aprataxin proteins in neuronal cells.

31 March 2020

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Very late onset in ataxia oculomotor apraxia type I

31 March 2020

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Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype

31 March 2020

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Phenotypic variability of aprataxin gene mutations

31 March 2020

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Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities

31 March 2020

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Defective DNA repair and neurodegenerative disease

31 March 2020

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

31 March 2020

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

31 March 2020

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Induction of reversible complexes between eukaryotic DNA topoisomerase I and DNA-containing oxidative base damages. 7, 8-dihydro-8-oxoguanine and 5-hydroxycytosine

31 March 2020

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

31 March 2020

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Topoisomerase I-mediated DNA damage

31 March 2020

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Trapping of DNA topoisomerase I on nick-containing DNA in cell free extracts of Saccharomyces cerevisiae

31 March 2020

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Hydrogen peroxide induces topoisomerase I-mediated DNA damage and cell death.

31 March 2020

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Overexpression of type I topoisomerases sensitizes yeast cells to DNA damage

31 March 2020

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The role of TDP1 from budding yeast in the repair of DNA damage

31 March 2020

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TDP1 facilitates repair of ionizing radiation-induced DNA single-strand breaks

31 March 2020

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Conversion of phosphoglycolate to phosphate termini on 3' overhangs of DNA double strand breaks by the human tyrosyl-DNA phosphodiesterase hTdp1

31 March 2020

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Human Tdp1 cleaves a broad spectrum of substrates, including phosphoamide linkages

31 March 2020

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Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)

31 March 2020

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Tyrosyl-DNA phosphodiesterase (Tdp1) participates in the repair of Top2-mediated DNA damage

31 March 2020

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SCAN1 mutant Tdp1 accumulates the enzyme--DNA intermediate and causes camptothecin hypersensitivity

31 March 2020

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Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

31 March 2020

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

31 March 2020

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The novel human gene aprataxin is directly involved in DNA single-strand-break repair.

31 March 2020

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TDP1-dependent DNA single-strand break repair and neurodegeneration

31 March 2020

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Is base excision repair a tumor suppressor mechanism?

31 March 2020

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ATM deficiency and oxidative stress: a new dimension of defective response to DNA damage

31 March 2020

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31 March 2020

Identifiers

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30 April 2017

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

580249

1041270694

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580249

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Consolidated OpenCitations Corpus – April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=18626472

2 references

30 April 2017

Consolidated OpenCitations Corpus – April 2017