Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer (Q37278036)

19 August 2017

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title

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

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19 August 2017

Martin F Lavin

1

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PubMed ID

18813293

19 August 2017

language of work or name

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1 October 2008

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Nature Reviews Molecular Cell Biology

19 August 2017

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19 August 2017

9

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19 August 2017

10

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19 August 2017

759-769

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https://scigraph.springernature.com/pub.10.1038/nrm2514

19 August 2017

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cites work

The genetic defect in ataxia-telangiectasia

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Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

31 March 2020

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A single ataxia telangiectasia gene with a product similar to PI-3 kinase

31 March 2020

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The mRNA surveillance protein hSMG-1 functions in genotoxic stress response pathways in mammalian cells

31 March 2020

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Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay

31 March 2020

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Enhanced phosphorylation of p53 by ATM in response to DNA damage

31 March 2020

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Activation of the ATM kinase by ionizing radiation and phosphorylation of p53

31 March 2020

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ATM associates with and phosphorylates p53: mapping the region of interaction

31 March 2020

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A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia

31 March 2020

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ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

31 March 2020

1 reference

Systematic Discovery of In Vivo Phosphorylation Networks

31 March 2020

1 reference

FAT: a novel domain in PIK-related kinases

31 March 2020

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Interaction between ATM protein and c-Abl in response to DNA damage

31 March 2020

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The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

31 March 2020

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Positional cloning of the gene for Nijmegen breakage syndrome

31 March 2020

1 reference

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

31 March 2020

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The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

31 March 2020

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Effect of ionizing radiation on DNA synthesis in ataxia telangiectasia cells.

31 March 2020

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Radiosensitivity in ataxia-telangiectasia: a new explanation

31 March 2020

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Radiosensitivity in ataxia-telangiectasia: anomalies in radiation-induced cell cycle delay

31 March 2020

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Abnormal levels of UV-induced unscheduled DNA synthesis in ataxia telangiectasia cells after exposure to ionizing radiation

31 March 2020

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The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

31 March 2020

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Genomic Organization of the ATM gene

31 March 2020

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Ataxia-telangiectasia, an evolving phenotype

31 March 2020

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Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis

31 March 2020

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Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

31 March 2020

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Identification of ataxia telangiectasia heterozygotes, a cancer prone population

31 March 2020

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A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci.

31 March 2020

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Hypersensitivity of ataxia telangiectasia fibroblasts to ionizing radiation is associated with a repair deficiency of DNA double-strand breaks

31 March 2020

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ATM signaling facilitates repair of DNA double-strand breaks associated with heterochromatin

31 March 2020

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Roles of ATM and NBS1 in chromatin structure modulation and DNA double-strand break repair

31 March 2020

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SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint

31 March 2020

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Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway

31 March 2020

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Immunoglobulin class switch recombination is impaired in Atm-deficient mice

31 March 2020

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ATM stabilizes DNA double-strand-break complexes during V(D)J recombination.

31 March 2020

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ATM deficiency impairs thymocyte maturation because of defective resolution of T cell receptor alpha locus coding end breaks

31 March 2020

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Sensing of intermediates in V(D)J recombination by ATM.

31 March 2020

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ATM deficiency disrupts Tcra locus integrity and the maturation of CD4+CD8+ thymocytes.

31 March 2020

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ATM binds to beta-adaptin in cytoplasmic vesicles

31 March 2020

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Localization of a portion of extranuclear ATM to peroxisomes

31 March 2020

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Participation of ATM in insulin signalling through phosphorylation of eIF-4E-binding protein 1.

31 March 2020

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An unusual form of diabetes mellitus in ataxia telangiectasia

31 March 2020

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Extreme insulin resistance in ataxia telangiectasia: defect in affinity of insulin receptors

31 March 2020

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ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome

31 March 2020

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DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation

31 March 2020

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ATM is a cytoplasmic protein in mouse brain required to prevent lysosomal accumulation.

31 March 2020

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ATM-mediated response to DNA double strand breaks in human neurons derived from stem cells.

31 March 2020

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Analysis of the ataxia telangiectasia mutated-mediated DNA damage response in murine cerebellar neurons.

31 March 2020

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

31 March 2020

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The DNA damage response pathways: at the crossroad of protein modifications

31 March 2020

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Rapid activation of ATM on DNA flanking double-strand breaks

31 March 2020

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Human Rad50/Mre11 is a flexible complex that can tether DNA ends

31 March 2020

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The MRN complex: coordinating and mediating the response to broken chromosomes

31 March 2020

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The Rad50 zinc-hook is a structure joining Mre11 complexes in DNA recombination and repair

31 March 2020

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Mesoscale conformational changes in the DNA-repair complex Rad50/Mre11/Nbs1 upon binding DNA

31 March 2020

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The 3' to 5' exonuclease activity of Mre 11 facilitates repair of DNA double-strand breaks

31 March 2020

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Nbs1 potentiates ATP-driven DNA unwinding and endonuclease cleavage by the Mre11/Rad50 complex

31 March 2020

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Requirement of the MRN complex for ATM activation by DNA damage

31 March 2020

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Independent roles for nibrin and Mre11-Rad50 in the activation and function of Atm.

31 March 2020

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Nijmegen breakage syndrome: consequences of defective DNA double strand break repair

31 March 2020

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Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage

31 March 2020

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Active role for nibrin in the kinetics of atm activation

31 March 2020

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Involvement of novel autophosphorylation sites in ATM activation

31 March 2020

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Autophosphorylation of ataxia-telangiectasia mutated is regulated by protein phosphatase 2A.

31 March 2020

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Wip1 Phosphatase Modulates ATM-Dependent Signaling Pathways

31 March 2020

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Requirement of protein phosphatase 5 in DNA-damage-induced ATM activation

31 March 2020

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A role for the Tip60 histone acetyltransferase in the acetylation and activation of ATM

31 March 2020

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DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity

31 March 2020

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Autophosphorylation at serine 1987 is dispensable for murine Atm activation in vivo

31 March 2020

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Ataxia telangiectasia mutated expression and activation in the testis

31 March 2020

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Doxorubicin activates ATM-dependent phosphorylation of multiple downstream targets in part through the generation of reactive oxygen species

31 March 2020

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The ATM-mediated DNA-damage response: taking shape.

31 March 2020

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Large-scale characterization of HeLa cell nuclear phosphoproteins

31 March 2020

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Mdc1 couples DNA double-strand break recognition by Nbs1 with its H2AX-dependent chromatin retention

31 March 2020

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Modulation of telomere length dynamics by the subtelomeric region of tetrahymena telomeres

31 March 2020

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Histone H2AX: a dosage-dependent suppressor of oncogenic translocations and tumors

31 March 2020

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H2AX haploinsufficiency modifies genomic stability and tumor susceptibility

31 March 2020

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MDC1/NFBD1: a key regulator of the DNA damage response in higher eukaryotes

31 March 2020

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Phospho-dependent interactions between NBS1 and MDC1 mediate chromatin retention of the MRN complex at sites of DNA damage

31 March 2020

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Phosphorylation of SDT repeats in the MDC1 N terminus triggers retention of NBS1 at the DNA damage-modified chromatin

31 March 2020

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RNF8 transduces the DNA-damage signal via histone ubiquitylation and checkpoint protein assembly

31 March 2020

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Orchestration of the DNA-damage response by the RNF8 ubiquitin ligase

31 March 2020

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RNF8 ubiquitylates histones at DNA double-strand breaks and promotes assembly of repair proteins

31 March 2020

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ATM and the Mre11 complex combine to recognize and signal DNA double-strand breaks

31 March 2020

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Chk2 activation dependence on Nbs1 after DNA damage

31 March 2020

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Interaction of FANCD2 and NBS1 in the DNA damage response

31 March 2020

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Ataxia-telangiectasia-mutated (ATM) and NBS1-dependent phosphorylation of Chk1 on Ser-317 in response to ionizing radiation

31 March 2020

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Constitutive phosphorylation of MDC1 physically links the MRE11-RAD50-NBS1 complex to damaged chromatin

31 March 2020

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MDC1 maintains genomic stability by participating in the amplification of ATM-dependent DNA damage signals

31 March 2020

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Distinct spatiotemporal dynamics of mammalian checkpoint regulators induced by DNA damage

31 March 2020

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Spatial organization of the mammalian genome surveillance machinery in response to DNA strand breaks

31 March 2020

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Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products

31 March 2020

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ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response

31 March 2020

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ATM-dependent phosphorylation of nibrin in response to radiation exposure

31 March 2020

1 reference

ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway

31 March 2020

1 reference

Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes.

31 March 2020

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The DNA damage-dependent intra-S phase checkpoint is regulated by parallel pathways

31 March 2020

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ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex

31 March 2020

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Activation of the cellular DNA damage response in the absence of DNA lesions

31 March 2020

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An oncogene-induced DNA damage model for cancer development

31 March 2020

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Incidence of cancer in 161 families affected by ataxia-telangiectasia

31 March 2020

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ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

31 March 2020

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Substrate specificities and identification of putative substrates of ATM kinase family members

31 March 2020

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Utilization of oriented peptide libraries to identify substrate motifs selected by ATM.

31 March 2020

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ATAXIA-TELANGIECTASIA. ITS ASSOCIATION WITH A DEFECTIVE THYMUS, IMMUNOLOGICAL-DEFICIENCY DISEASE, AND MALIGNANCY

31 March 2020

1 reference

On the nature of a defect in cells from individuals with ataxia-telangiectasia

31 March 2020

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Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation

31 March 2020

1 reference

Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM.

31 March 2020

1 reference

Purification and characterization of ATM from human placenta. A manganese-dependent, wortmannin-sensitive serine/threonine protein kinase

31 March 2020

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Oncogene-induced senescence is part of the tumorigenesis barrier imposed by DNA damage checkpoints

31 March 2020

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Activation of the DNA damage checkpoint and genomic instability in human precancerous lesions

31 March 2020

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No dose-dependence of DNA double-strand break misrejoining following alpha-particle irradiation

31 March 2020

1 reference

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7 January 2021

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Identifiers

DOI

10.1038/NRM2514

1 reference

PubMed ID

18813293

Dimensions Publication ID

19 August 2017

0 references

1 reference

PubMed ID

18813293