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Novel PNKP mutations associated with reduced DNA single‐strand break repair and severe microcephaly, seizures, and developmental delay.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2295
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- Publication type:
- Article
Unrepaired base excision repair intermediates in template DNA strands trigger replication fork collapse and PARP inhibitor sensitivity.
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- EMBO Journal, 2023, v. 42, n. 18, p. 1, doi. 10.15252/embj.2022113190
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- Publication type:
- Article
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.
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- Human Genetics, 2023, v. 142, n. 9, p. 1417, doi. 10.1007/s00439-023-02589-3
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- Publication type:
- Article
BRAT1 links Integrator and defective RNA processing with neurodegeneration.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32763-6
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- Publication type:
- Article
Parp1 hyperactivity couples DNA breaks to aberrant neuronal calcium signalling and lethal seizures.
- Published in:
- EMBO Reports, 2021, v. 22, n. 5, p. 1, doi. 10.15252/embr.202051851
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- Publication type:
- Article
Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 12, p. 6672, doi. 10.1093/nar/gkaa489
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- Publication type:
- Article
Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17069-9
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- Publication type:
- Article
Effects of TDP2/VPg Unlinkase Activity on Picornavirus Infections Downstream of Virus Translation.
- Published in:
- Viruses (1999-4915), 2020, v. 12, n. 2, p. 166, doi. 10.3390/v12020166
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- Publication type:
- Article
TDP2 suppresses chromosomal translocations induced by DNA topoisomerase II during gene transcription.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00307-y
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- Publication type:
- Article
Overlapping roles for PARP1 and PARP2 in the recruitment of endogenous XRCC1 and PNKP into oxidized chromatin.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 5, p. 2546, doi. 10.1093/nar/gkw1246
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- Publication type:
- Article
PARP3 is a sensor of nicked nucleosomes and monoribosylates histone H2B<sup>Glu2</sup>.
- Published in:
- Nature Communications, 2016, v. 7, n. 8, p. 12404, doi. 10.1038/ncomms12404
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- Publication type:
- Article
Mode of action of DNA-competitive small molecule inhibitors of tyrosyl DNA phosphodiesterase 2.
- Published in:
- Biochemical Journal, 2016, v. 473, n. 13, p. 1869, doi. 10.1042/BCJ20160180
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- Publication type:
- Article
The Ku-binding motif is a conserved module for recruitment and stimulation of non-homologous end-joining proteins.
- Published in:
- Nature Communications, 2016, v. 7, n. 4, p. 11242, doi. 10.1038/ncomms11242
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- Publication type:
- Article
The XRCC1 phosphate-binding pocket binds poly (ADP-ribose) and is required for XRCC1 function.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 14, p. 6934, doi. 10.1093/nar/gkv623
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- Publication type:
- Article
Does Tyrosyl DNA Phosphodiesterase-2 Play a Role in Hepatitis B Virus Genome Repair?
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0128401
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- Publication type:
- Article
TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.
- Published in:
- Nature Genetics, 2014, v. 46, n. 5, p. 516, doi. 10.1038/ng.2929
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- Publication type:
- Article
PARP-1 dependent recruitment of the amyotrophic lateral sclerosis-associated protein FUS/TLS to sites of oxidative DNA damage.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 1, p. 307, doi. 10.1093/nar/gkt835
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- Publication type:
- Article
TDP2-Dependent Non-Homologous End-Joining Protects against Topoisomerase II-Induced DNA Breaks and Genome Instability in Cells and In Vivo.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 3, p. 1, doi. 10.1371/journal.pgen.1003226
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- Publication type:
- Article
APLF promotes the assembly and activity of non-homologous end joining protein complexes.
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- EMBO Journal, 2013, v. 32, n. 1, p. 112, doi. 10.1038/emboj.2012.304
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- Publication type:
- Article
Tyrosyl DNA phosphodiesterase 2, an enzyme fit for purpose.
- Published in:
- Nature Structural & Molecular Biology, 2012, v. 19, n. 12, p. 1212, doi. 10.1038/nsmb.2455
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- Publication type:
- Article
TDP2 promotes repair of topoisomerase I-mediated DNA damage in the absence of TDP1.
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- Nucleic Acids Research, 2012, v. 40, n. 17, p. 8371, doi. 10.1093/nar/gks622
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- Publication type:
- Article
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 14, p. 6608, doi. 10.1093/nar/gks318
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- Publication type:
- Article
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
- Published in:
- Nature Genetics, 2010, v. 42, n. 3, p. 245, doi. 10.1038/ng.526
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- Publication type:
- Article
A human 5′-tyrosyl DNA phosphodiesterase that repairs topoisomerase-mediated DNA damage.
- Published in:
- Nature, 2009, v. 461, n. 7264, p. 674, doi. 10.1038/nature08444
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- Publication type:
- Article
The genesis of cerebellar interneurons and the prevention of neural DNA damage require XRCC1.
- Published in:
- Nature Neuroscience, 2009, v. 12, n. 8, p. 973, doi. 10.1038/nn.2375
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- Publication type:
- Article
Single-strand break repair and genetic disease.
- Published in:
- Nature Reviews Genetics, 2008, v. 9, n. 8, p. 619, doi. 10.1038/nrg2380
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- Publication type:
- Article
Single-strand break repair and genetic disease.
- Published in:
- 2008
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- Publication type:
- journal article
TDP1 facilitates chromosomal single-strand break repair in neurons and is neuroprotective in vivo.
- Published in:
- EMBO Journal, 2007, v. 26, n. 22, p. 4720, doi. 10.1038/sj.emboj.7601869
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- Publication type:
- Article
Chk1 regulates the density of active replication origins during the vertebrate S phase.
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- EMBO Journal, 2007, v. 26, n. 11, p. 2719, doi. 10.1038/sj.emboj.7601714
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- Publication type:
- Article
The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.
- Published in:
- 2006
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- Publication type:
- Letter
TDP1-dependent DNA single-strand break repair and neurodegeneration.
- Published in:
- Mutagenesis, 2006, v. 21, n. 4, p. 219, doi. 10.1093/mutage/gel024
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- Publication type:
- Article
An Achilles' heel for breast cancer?
- Published in:
- Nature Structural & Molecular Biology, 2005, v. 12, n. 5, p. 387, doi. 10.1038/nsmb0505-387
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- Publication type:
- Article
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1.
- Published in:
- Nature, 2005, v. 434, n. 7029, p. 108, doi. 10.1038/nature03314
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- Publication type:
- Article
XRCC1–DNA polymerase β interaction is required for efficient base excision repair.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. 8, p. 2550, doi. 10.1093/nar/gkh567
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- Publication type:
- Article
A requirement for PARP‐1 for the assembly or stability of XRCC1 nuclear foci at sites of oxidative DNA damage.
- Published in:
- Nucleic Acids Research, 2003, v. 31, n. 19, p. 5526
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- Publication type:
- Article
Quantitation of intracellular NAD(P)H can monitor an imbalance of DNA single strand break repair in base excision repair deficient cells in real time.
- Published in:
- Nucleic Acids Research, 2003, v. 31, n. 17, p. e104, doi. 10.1093/nar/gng105
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- Publication type:
- Article
Interference of papillomavirus E6 protein with single-strand break repair by interaction with XRCC1.
- Published in:
- EMBO Journal, 2002, v. 21, n. 17, p. 4741, doi. 10.1093/emboj/cdf443
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- Publication type:
- Article
Mammalian DNA single-strand break repair: an X-ra(y)ted affair.
- Published in:
- BioEssays, 2001, v. 23, n. 5, p. 447, doi. 10.1002/bies.1063
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- Publication type:
- Article
Reduced ligation during DNA base excision repair supported by BRCA2 mutant cells.
- Published in:
- Oncogene, 2000, v. 19, n. 50, p. 5781, doi. 10.1038/sj.onc.1203951
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- Publication type:
- Article
The DNA ligase III zinc finger stimulates binding to DNA secondary structure and promotes end joining.
- Published in:
- Nucleic Acids Research, 2000, v. 28, n. 18, p. 3558, doi. 10.1093/nar/28.18.3558
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- Publication type:
- Article
Role of the DNA ligase III zinc finger in polynucleotide binding and ligation.
- Published in:
- Nucleic Acids Research, 1998, v. 26, n. 21, p. 4804, doi. 10.1093/nar/26.21.4804
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- Publication type:
- Article
XRCC1 Polypeptide Interacts with DNA Polymerase β and Possibly Poly (ADP-Ribose) Polymerase, and DNA Ligase III Is a Novel Molecular ‘Nick-Sensor’ In Vitro.
- Published in:
- Nucleic Acids Research, 1996, v. 24, n. 22, p. 4387, doi. 10.1093/nar/24.22.4387
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- Publication type:
- Article
Partial Correction of the Single-Strand Break Repair Defect in the CHO Mutant EM9 by Electroporated Recombinant XRCC1 Protein<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1994, v. 726, n. 1, p. 336, doi. 10.1111/j.1749-6632.1994.tb52844.x
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- Publication type:
- Article