Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation

No abstract is available for this paper.

• Publication year

  2012

• Venue

  IUBMB Life - A Journal of the International Union of Biochemistry and Molecular Biology

• Publication date

  2012-10-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/iub.1077PMID 22941933
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Impact of heterozygous c.657-661del, p.I171V and p.R215W mutations in NBN on nibrin functions.

  2012cited by this paper
• Cancer predisposing mutations in BRCT domains

  2011cited by this paper
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  2011cited by this paper
• Persistence of γ-H2AX and 53BP1 foci in proliferating and non-proliferating human mammary epithelial cells after exposure to γ-rays or iron ions

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• Targeting the DNA double strand breaks repair for cancer therapy.

  2010cited by this paper
• HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes

  2010cited by this paper
• The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage.

  2009cited by this paper
• MRE11-RAD50-NBS1 Complex Dictates DNA Repair Independent of H2AX*

  2009cited by this paper
• RNF168 binds and amplifies ubiquitin conjugates on damaged chromosomes to allow accumulation of repair proteins.

  2009cited by this paper
• Current topics in DNA double-strand break repair.

  2008cited by this paper
• Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

  2008cited by this paper
• The R215W mutation in NBS1 impairs gamma-H2AX binding and affects DNA repair: molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients.

  2008cited by this paper
• Nuclear Export of NBN Is Required for Normal Cellular Responses to Radiation

  2008cited by this paper
• The MRN complex.

  2008cited by this paper
• NBS1 Heterozygosity and Cancer Risk

  2008cited by this paper
• A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.

  2007cited by this paper
• Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

  2007cited by this paper
• The Mre11-Rad50-Nbs1 Complex Acts Both Upstream and Downstream of Ataxia Telangiectasia Mutated and Rad3-related Protein (ATR) to Regulate the S-phase Checkpoint following UV Treatment*

  2007cited by this paper
• A Proteomic Analysis of Ataxia Telangiectasia-mutated (ATM)/ATM-Rad3-related (ATR) Substrates Identifies the Ubiquitin-Proteasome System as a Regulator for DNA Damage Checkpoints*

  2007cited by this paper
• ATM and ATR Substrate Analysis Reveals Extensive Protein Networks Responsive to DNA Damage

  2007cited by this paper
• Detection of a tandem BRCT in Nbs1 and Xrs2 with functional implications in the DNA damage response

  2006cited by this paper
• Structural basis for phosphorylation-dependent signaling in the DNA-damage response.

  2005cited by this paper
• Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability

  2005influential reference
• Insights into the Molecular Basis of Human Hereditary Breast Cancer from Studies of the BRCA1 BRCT Domain

  2005cited by this paper
• Molecular mechanism of the recruitment of NBS1/hMRE11/hRAD50 complex to DNA double-strand breaks: NBS1 binds to gamma-H2AX through FHA/BRCT domain.

  2004cited by this paper
• Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.

  2004cited by this paper
• NBS1 and its functional role in the DNA damage response.

  2004cited by this paper
• Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling.

  2004cited by this paper
• Interactions between BRCT repeats and phosphoproteins: tangled up in two.

  2004cited by this paper
• The cellular response to DNA double-strand breaks: defining the sensors and mediators.

  2003cited by this paper
• Nibrin Forkhead-associated Domain and Breast Cancer C-terminal Domain Are Both Required for Nuclear Focus Formation and Phosphorylation*

  2003cited by this paper
• The BRCT Domain Is a Phospho-Protein Binding Domain

  2003cited by this paper
• Sensing DNA Damage Through ATRIP Recognition of RPA-ssDNA Complexes

  2003cited by this paper
• An ATR- and Cdc7-dependent DNA damage checkpoint that inhibits initiation of DNA replication.

  2003cited by this paper
• BRCT Repeats As Phosphopeptide-Binding Modules Involved in Protein Targeting

  2003cited by this paper
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  2002cited by this paper
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  2002cited by this paper
• Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage.

  2002cited by this paper
• Interfaces Between the Detection, Signaling, and Repair of DNA Damage

  2002cited by this paper
• The forkhead-associated domain of NBS1 is essential for nuclear foci formation after irradiation but not essential for hRAD50[middle dot]hMRE11[middle dot]NBS1 complex DNA repair activity.

  2001cited by this paper
• Distinct Functional Domains of Nibrin Mediate Mre11 Binding, Focus Formation, and Nuclear Localization

  2001cited by this paper
• BRCT domain interactions in the heterodimeric DNA repair protein XRCC1-DNA ligase III.

  2001cited by this paper
• An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele

  2001cited by this paper
• ATM and ATR: networking cellular responses to DNA damage.

  2001cited by this paper
• Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).

  2001cited by this paper
• P53 Binding Protein 1 (53bp1) Is an Early Participant in the Cellular Response to DNA Double-Strand Breaks

  2000cited by this paper
• A critical role for histone H2AX in recruitment of repair factors to nuclear foci after DNA damage.

  2000cited by this paper
• Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products

  2000cited by this paper
• ATM-dependent phosphorylation of nibrin in response to radiation exposure

  2000cited by this paper
• ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response

  2000cited by this paper
• The Forkhead-associated Domain of NBS1 Is Essential for Nuclear Foci Formation after Irradiation but Not Essential for hRAD50·hMRE11·NBS1 Complex DNA Repair Activity*

  2000cited by this paper
• ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway

  2000cited by this paper
• Megabase Chromatin Domains Involved in DNA Double-Strand Breaks in Vivo

  1999cited by this paper
• DNA-dependent Protein Kinase-independent Activation of p53 in Response to DNA Damage*

  1999cited by this paper
• The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response.

  1998cited by this paper
• XRCC1 protein interacts with one of two distinct forms of DNA ligase III.

  1997cited by this paper
• BRCA1 protein products ... Functional motifs...

  1996cited by this paper
• The BRCT Domain Is a PhosphoProtein Binding Domain

  year unknowncited by this paper

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  2022cites this paper
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  2021cites this paper
• Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer Cells

  2020cites this paper
• Nibrin Double Strand Breakage and its Role in Development of Cancers

  2020cites this paper
• NBS1 interacts with HP1 to ensure genome integrity

  2019cites this paper
• Inherited NBN Mutations and Prostate Cancer Risk and Survival

  2018cites this paper
• A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA

  2017cites this paper
• Hsp90α regulates ATM and NBN functions in sensing and repair of DNA double‐strand breaks

  2017cites this paper
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  2016cites this paper
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  2014influential citation
• Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line

  2014cites this paper