Cited by 227DNA Repair MechanismsEffects of Radiation ExposureNuclear Structure and Function

The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.

Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models

Difilippantonio, Simone, Celeste, Arkady, Fernandez-Capetillo, Oscar, Chen, Hua-Tang, Martin, Bernardo Reina San, Laethem, Francois Van, Yang, Yong-Ping, Petukhova, Galina V., Eckhaus, Michael, Feigenbaum, Lionel, Manova, Katia, Kruhlak, Michael, Camerini-Otero, R. Daniel, Sharan, Shyam, Nussenzweig, Michel, Nussenzweig, André·2005·Nature Cell Biology

DOI 10.1038/ncb1270

Open this paper in CoChat — free account

Abstract

Nijmegen breakage syndrome (NBS) is a chromosomal fragility disorder that shares clinical and cellular features with ataxia telangiectasia. Here we demonstrate that Nbs1-null B cells are defective in the activation of ataxia-telangiectasia-mutated (Atm) in response to ionizing radiation, whereas ataxia-telangiectasia- and Rad3-related (Atr)-dependent signalling and Atm activation in response to ultraviolet light, inhibitors of DNA replication, or hypotonic stress are intact. Expression of the main human NBS allele rescues the lethality of Nbs1-/- mice, but leads to immunodeficiency, cancer predisposition, a defect in meiotic progression in females and cell-cycle checkpoint defects that are associated with a partial reduction in Atm activity. The Mre11 interaction domain of Nbs1 is essential for viability, whereas the Forkhead-associated (FHA) domain is required for T-cell and oocyte development and efficient DNA damage signalling. Reconstitution of Nbs1 knockout mice with various mutant isoforms demonstrates the biological impact of impaired Nbs1 function at the cellular and organismal level.

Integrity signals

Registry

Crossref · 10.1038/ncb1270

Cites

47 of 47 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation
Bakkenist, C. J., & Kastan, M. B. (2003) · Nature · doi:10.1038/nature01368 · Cited by 3,466
ATM Activation by DNA Double-Strand Breaks Through the Mre11-Rad50-Nbs1 Complex
Lee, J.-H., & Paull, T. T. (2005) · Science · doi:10.1126/science.1108297 · Cited by 1,424
Genomic Instability in Mice Lacking Histone H2AX
Celeste, A., Petersen, S., Romanienko, P. J., Fernandez-Capetillo, O., Chen, H. T., Sedelnikova, O. A., Reina-San-Martin, B., Coppola, V., Meffre, E., Difilippantonio, M. J., et al. (2002) · Science · doi:10.1126/science.1069398 · Cited by 1,385
Self-citation
Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage
Falck, J., Coates, J., & Jackson, S. P. (2005) · Nature · doi:10.1038/nature03442 · Cited by 1,304
Requirement of the MRN complex for ATM activation by DNA damage
Uziel, T., Lerenthal, Y., Moyal, L., Andegeko, Y., Mittelman, L., & Shiloh, Y. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg541 · Cited by 1,075
Histone H2AX phosphorylation is dispensable for the initial recognition of DNA breaks
Celeste, A., Fernandez-Capetillo, O., Kruhlak, M. J., Pilch, D. R., Staudt, D. W., Lee, A., Bonner, R. F., Bonner, W. M., & Nussenzweig, A. (2003) · Nature Cell Biology · doi:10.1038/ncb1004 · Cited by 989
Self-citation
The MRE11 complex: at the crossroads of DNA repair and checkpoint signalling
D'Amours, D., & Jackson, S. P. (2002) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm805 · Cited by 874
ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway
Lim, D.-S., Kim, S.-T., Xu, B., Maser, R. S., Lin, J., Petrini, J. H. J., & Kastan, M. B. (2000) · Nature · doi:10.1038/35007091 · Cited by 786
Direct Activation of the ATM Protein Kinase by the Mre11/Rad50/Nbs1 Complex
Lee, J.-H., & Paull, T. T. (2004) · Science · doi:10.1126/science.1091496 · Cited by 762
H2AX Haploinsufficiency Modifies Genomic Stability and Tumor Susceptibility
Celeste, A., Difilippantonio, S., Difilippantonio, M. J., Fernández-Capetillo, Ó., Pilch, D. R., Sedelnikova, O. A., Eckhaus, M., Ried, T., Bonner, W. M., & Nussenzweig, A. (2003) · Cell · doi:10.1016/s0092-8674(03)00567-1 · Cited by 558
Self-citation

Flagged first, then by citations

Show all 47 references

Sorted by citations

Items 101–200 of 227

RAD18, WRNIP1 and ATMIN promote ATM signalling in response to replication stress
Kanu, N., Zhang, T., Burrell, R. A., Chakraborty, A., Cronshaw, J. M., DaCosta, C., Gronroos, E. C., Pemberton, H. N., Anderton, E., Gonzalez, L., et al. (2015) · Oncogene · doi:10.1038/onc.2015.427 · Cited by 52
The Mre11-Nbs1 Interface Is Essential for Viability and Tumor Suppression
Kim, J. H., Grosbart, M., Anand, R., Wyman, C., Ćejka, P., & Petrini, J. H. J. (2017) · Cell Reports · doi:10.1016/j.celrep.2016.12.035 · Cited by 52
Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies
Gao, P., Ma, N., Li, M., Tian, Q., & Liu, D. (2013) · Mutagenesis · doi:10.1093/mutage/get048 · Cited by 49
Modeling the role of p53 pulses in DNA damage- induced cell death decision
Sun, T., Chen, C., Wu, Y., Zhang, S., Cui, J., & Shen, P. (2009) · BMC Bioinformatics · doi:10.1186/1471-2105-10-190 · Cited by 48
ATM deficiency disrupts Tcra locus integrity and the maturation of CD4+CD8+ thymocytes
Matei, I. R., Gladdy, R. A., Nutter, L. M. J., Canty, A. J., Guidos, C. J., & Danska, J. S. (2006) · Blood · doi:10.1182/blood-2006-05-020917 · Cited by 52
Molecular Characterization of the Role of the Schizosaccharomyces pombe nip1+/ctp1+ Gene in DNA Double-Strand Break Repair in Association with the Mre11-Rad50-Nbs1 Complex
Akamatsu, Y., Murayama, Y., Yamada, T., Nakazaki, T., Tsutsui, Y., Ohta, K., & Iwasaki, H. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.01828-07 · Cited by 48
Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome
Pastorczak, A. K., Szczepański, T., & Mlynarski, W. M. (2016) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2016.01.007 · Cited by 45
Endogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation
Demuth, I., Bradshaw, P. S., Lindner, A., Anders, M., Heinrich, S., Kallenbach, J., Schmelz, K., Digweed, M., Meyn, M. S., & CONCANNON, P. J. (2008) · DNA repair · doi:10.1016/j.dnarep.2008.03.020 · Cited by 46
DNA Repair Deficiency and Neurodegeneration
Katyal, S., & McKinnon, P. J. (2007) · Cell Cycle · doi:10.4161/cc.6.19.4757 · Cited by 46
Genetic Evidence for Single-Strand Lesions Initiating Nbs1-Dependent Homologous Recombination in Diversification of Ig V in Chicken B Lymphocytes
Nakahara, M., Sonoda, E., Nojima, K., Sale, J. E., Takenaka, K., Kikuchi, K., Taniguchi, Y., Nakamura, K., Sumitomo, Y., Bree, R. T., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000356 · Cited by 45
The Dispersal of Replication Proteins after Etoposide Treatment Requires the Cooperation of Nbs1 with the Ataxia Telangiectasia Rad3-Related/Chk1 Pathway
Rossi, R., Lidonnici, M. R., Soza, S., Biamonti, G., & Montecucco, A. (2006) · Cancer Research · doi:10.1158/0008-5472.can-05-2741 · Cited by 42
DNA Damage-Induced Cell Cycle Regulation and Function of Novel Chk2 Phosphoresidues
Buscemi, G., Carlessi, L., Zannini, L., Lisanti, S., Fontanella, E., Canevari, S., & Delia, D. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.00534-06 · Cited by 45
Analysis of the Ataxia Telangiectasia Mutated-Mediated DNA Damage Response in Murine Cerebellar Neurons
Dar, I., Biton, S., Shiloh, Y., & Barzilai, A. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.2055-06.2006 · Cited by 45
The role of NBS1 in the modulation of PIKK family proteins ATM and ATR in the cellular response to DNA damage
Zhou, J., Lim, C. U. K., Li, J. J., Cai, L., & Zhang, Y. (2006) · Cancer Letters · doi:10.1016/j.canlet.2006.01.026 · Cited by 45
Aging mice have increased chromosome instability that is exacerbated by elevated Mdm2 expression
Lushnikova, T., Bouska, A., Odvody, J., Dupont, W. D., & Eischen, C. M. (2011) · Oncogene · doi:10.1038/onc.2011.172 · Cited by 40
High Prevalence of Primary Ovarian Insufficiency in Girls and Young Women with Nijmegen Breakage Syndrome: Evidence from a Longitudinal Study
Chrzańowska, K., Szarras‐Czapnik, M., Gajdulewicz, M., Kalina, M. A., Gajtko-Metera, M., Walewska‐Wolf, M., Szufladowicz-Woźniak, J., Rysiewski, H., Gregorek, H., Cukrowská, B., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2628 · Cited by 45
Mre11-Rad50-Nbs complex is required to cap telomeres during Drosophila embryogenesis
Gao, G., Bi, X., Chen, J., Srikanta, D., & Rong, Y. S. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0902707106 · Cited by 41
Dynamics of the PI3K-like protein kinase members ATM and DNA-PKcs at DNA double strand breaks
Davis, A. J., So, S., & Chen, D. J. (2010) · Cell Cycle · doi:10.4161/cc.9.13.12148 · Cited by 41
A divalent FHA/BRCT‐binding mechanism couples the MRE11–RAD50–NBS1 complex to damaged chromatin
Hari, F. J., Spycher, C., Jungmichel, S., Pavic, L., & Stucki, M. (2010) · EMBO Reports · doi:10.1038/embor.2010.30 · Cited by 37
A Comprehensive Analysis of the Dynamic Response to Aphidicolin-Mediated Replication Stress Uncovers Targets for ATM and ATMIN
Mazouzi, A., Stukalov, A., Müller, A. C., Chen, D., Wiedner, M., Prochazkova, J., Chiang, S., Schuster, M. K., Breitwieser, F. P., Pichlmair, A., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.03.077 · Cited by 36
RAD50 phosphorylation promotes ATR downstream signaling and DNA restart following replication stress
Gatei, M. H., Kijas, A. W., Biard, D. S. F., Dörk, T., & Lavin, M. F. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu141 · Cited by 38
Time to Bloom
Tikoo, S., & Sengupta, S. (2010) · Genome Integrity · doi:10.1186/2041-9414-1-14 · Cited by 37
ATMIN Is Required for Maintenance of Genomic Stability and Suppression of B Cell Lymphoma
Loizou, J. I., Sancho, R., Kanu, N., Bolland, D. J., Yang, F., Rada, C. A., Corcoran, A. E., & Behrens, A. (2011) · Cancer Cell · doi:10.1016/j.ccr.2011.03.022 · Cited by 34
DNA Replication Stress-induced Phosphorylation of Cyclic AMP Response Element-binding Protein Mediated by ATM
Dodson, G. E., & Tibbetts, R. S. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m509577200 · Cited by 34
ATMIN is required for the ATM-mediated signaling and recruitment of 53BP1 to DNA damage sites upon replication stress
Schmidt, L., Wiedner, M., Velimezi, G., Prochazkova, J., Owusu, M., Bauer, S., & Loizou, J. I. (2014) · DNA repair · doi:10.1016/j.dnarep.2014.09.001 · Cited by 32
Novel NBS1 Heterozygous Germ Line Mutation Causing MRE11-Binding Domain Loss Predisposes to Common Types of Cancer
Ebi, H., Matsuo, K., Sugito, N., Suzuki, M., Osada, H., Tajima, K., Ueda, R., & Takahashi, T. (2007) · Cancer Research · doi:10.1158/0008-5472.can-07-1749 · Cited by 32
DNA Damage in Nijmegen Breakage Syndrome Cells Leads to PARP Hyperactivation and Increased Oxidative Stress
Krenzlin, H., Demuth, I., Salewsky, B., Wessendorf, P., Weidele, K., Bürkle, A., & Digweed, M. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002557 · Cited by 31
Evidence that the Nijmegen breakage syndrome protein, an early sensor of double-strand DNA breaks (DSB), is involved in HIV-1 post-integration repair by recruiting the ataxia telangiectasia-mutated kinase in a process similar to, but distinct from, cellular DSB repair
Smith, J. A., Wang, F., Zhang, H., Wu, K., Williams, K. J., & Daniel, R. (2008) · Virology Journal · doi:10.1186/1743-422x-5-11 · Cited by 34
BMI1 attenuates etoposide-induced G2/M checkpoints via reducing ATM activation
Wei, F., Ojo, D., Lin, X., Wong, N., He, L., Yan, J., Xu, S., Major, P. P., & Tang, D. (2014) · Oncogene · doi:10.1038/onc.2014.235 · Cited by 32
Structure of a Second BRCT Domain Identified in the Nijmegen Breakage Syndrome Protein Nbs1 and its Function in an MDC1-Dependent Localization of Nbs1 to DNA Damage Sites
Xu, C., Wu, L., Cui, G., Botuyan, M. V., Chen, J., & Mer, G. (2008) · Journal of Molecular Biology · doi:10.1016/j.jmb.2008.05.087 · Cited by 30
NBN Phosphorylation regulates the accumulation of MRN and ATM at sites of DNA double-strand breaks
Wen, J., Cerosaletti, K. M., Schultz, K. J., Wright, J. A., & CONCANNON, P. J. (2012) · Oncogene · doi:10.1038/onc.2012.443 · Cited by 29
Inhibition of ERK activation enhances the repair of double-stranded breaks via non-homologous end joining by increasing DNA-PKcs activation
Wei, F., Yan, J., Tang, D., Lin, X., He, L., Xie, Y., Tao, L., & Wang, S. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2012.10.016 · Cited by 31
Breaking down cell cycle checkpoints and DNA repair during antigen receptor gene assembly
Callén, E., Nussenzweig, M. C., & Nussenzweig, A. (2007) · Oncogene · doi:10.1038/sj.onc.1210873 · Cited by 29
Self-citation
Cell cycle inhibitor, p19INK4d, promotes cell survival and decreases chromosomal aberrations after genotoxic insult due to enhanced DNA repair
Scassa, M. É., Marazita, M. C., Ceruti, J. M., Carcagno, A. L., Sirkin, P. F., González‐Cid, M., Pignataro, O. P., & Cánepa, E. T. (2007) · DNA repair · doi:10.1016/j.dnarep.2006.12.003 · Cited by 28
A nervous predisposition to unrepaired DNA double strand breaks
Reynolds, J. J., & Stewart, G. S. (2013) · DNA Repair · doi:10.1016/j.dnarep.2013.04.011 · Cited by 26
Investigation of the Functional Link between ATM and NBS1 in the DNA Damage Response in the Mouse Cerebellum
Dar, I., Yosha, G., Elfassy, R., Galron, R., Wang, Z., Shiloh, Y., & Barzilai, A. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.204172 · Cited by 26
Nijmegen breakage syndrome: case report and review of literature
Hasbaoui, B. E., Elyajouri, A., Abilkassem, R., & Agadr, A. (2020) · Pan African Medical Journal · doi:10.11604/pamj.2020.35.85.14746 · Cited by 31
Fertility defects revealing germline biallelic nonsense NBN mutations
Warcoin, M., Lespinasse, J., Despouy, G., d’Enghien, C. D., Laugé, A., Portnoï, M., Christin‐Maître, S., Stoppa‐Lyonnet, D., & Stern, M. (2008) · Human Mutation · doi:10.1002/humu.20904 · Cited by 28
Non-homologous end joining shapes the genomic rearrangement landscape of chromothripsis from mitotic errors
Hu, Q., Valle-Inclán, J. E., Dahiya, R., Guyer, A., Mazzagatti, A., Maurais, E. G., Engel, J. L., Lu, H., Davis, A. J., Cortés‐Ciriano, I., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-49985-5 · Cited by 27
Repair versus Checkpoint Functions of BRCA1 Are Differentially Regulated by Site of Chromatin Binding
Goldstein, M., & Kastan, M. B. (2015) · Cancer Research · doi:10.1158/0008-5472.can-15-0400 · Cited by 26
Twists and turns in the function of DNA damage signaling and repair proteins by post-translational modifications
Déry, U., & Masson, J. (2007) · DNA repair · doi:10.1016/j.dnarep.2006.12.009 · Cited by 27
Mechanistic Links Between ATM and Histone Methylation Codes During DNA Repair
Xu, Y., Xu, C., & Price, B. D. (2012) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-387665-2.00010-9 · Cited by 23
Targeted JAM-C deletion in germ cells by Spo11-controlled Cre recombinase
Pellegrini, M., Claps, G., Orlova, V. V., Barrios, F., Dolci, S., Geremia, R., Rossi, P., Rossi, G., Arnold, B., Chavakis, T., et al. (2010) · Journal of Cell Science · doi:10.1242/jcs.072959 · Cited by 24
Self-citation
Characterization of an NBS1 C-Terminal Peptide That Can Inhibit Ataxia Telangiectasia Mutated (ATM)-Mediated DNA Damage Responses and Enhance Radiosensitivity
Cariveau, M. J., Tang, X., Cui, X.-L., & Xu, B. (2007) · Molecular Pharmacology · doi:10.1124/mol.107.036681 · Cited by 22
ATP puts the brake on DNA double‐strand break repair
Hopfner, K. (2014) · BioEssays · doi:10.1002/bies.201400102 · Cited by 21
ATM, DNA-PKcs and ATR: shaping development through the regulation of the DNA damage responses
Menolfi, D., & Zha, S. (2019) · Genome Instability & Disease · doi:10.1007/s42764-019-00003-9 · Cited by 21
A surge of late-occurring meiotic double-strand breaks rescues synapsis abnormalities in spermatocytes of mice with hypomorphic expression of SPO11
Faieta, M., Cecca, S. D., de Rooij, D. G., Luchetti, A., Murdocca, M., Giacomo, M. D., Siena, S. D., Pellegrini, M., Rossi, P., & Barchi, M. (2015) · Chromosoma · doi:10.1007/s00412-015-0544-7 · Cited by 20
Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome
Lins, S., Kim, R., Krüger, L., Chrzańowska, K., Seemanová, E., & Digweed, M. (2009) · Gene · doi:10.1016/j.gene.2009.07.013 · Cited by 18
Recent Insights into the Formation of RAG-Induced Chromosomal Translocations
Brandt, V. L., & Roth, D. B. (2009) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-0296-2_3 · Cited by 22
Mouse MRE11-RAD50-NBS1 is needed to start and extend meiotic DNA end resection
Kim, S., Yamada, S., Li, T., Canasto‐Chibuque, C., Kim, J. H., Marcet-Ortega, M., Xu, J., Eng, D. Y., Feeney, L., Petrini, J. H. J., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-57928-x · Cited by 20
DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility
Fiévet, A., Bellanger, D., Zahed, L. F., Bürglen, L., Derrien, A., d’Enghien, C. D., Lespinasse, J., Parfait, B., Pedespan, J., Rieunier, G., et al. (2019) · Human Mutation · doi:10.1002/humu.23955 · Cited by 17
Nbn and Atm Cooperate in a Tissue and Developmental Stage-Specific Manner to Prevent Double Strand Breaks and Apoptosis in Developing Brain and Eye
Rodrigues, P. M. G., Grigaravičius, P., Remus, M., Cavalheiro, G. R., Gomes, A. L., Rocha-Martins, M., Frappart, L., Reuß, D., McKinnon, P. J., von Deimling, A., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0069209 · Cited by 17
A Point Mutation in theAspergillus nidulans sonBNup98 Nuclear Pore Complex Gene Causes Conditional DNA Damage Sensitivity
Souza, C. P. C. D., Hashmi, S. B., Horn, K. P., & Osmani, S. A. (2006) · Genetics · doi:10.1534/genetics.106.063438 · Cited by 17
Enhanced CD95-mediated apoptosis contributes to radiation hypersensitivity of NBS lymphoblasts
Sagan, D., Mörtl, S., Müller, I., Eckardt‐Schupp, F., & Eichholtz-Wirth, H. (2007) · APOPTOSIS · doi:10.1007/s10495-006-0021-0 · Cited by 17
Nbs1 moving up in the world
Stavridi, E. S., & Halazonetis, T. D. (2005) · Nature Cell Biology · doi:10.1038/ncb0705-648 · Cited by 16
Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome
Habib, R., Kim, R., Neitzel, H., Demuth, I., Chrzańowska, K., Seemanová, E., Faber, R., Digweed, M., Voß, R., Jäger, K., et al. (2020) · Aging · doi:10.18632/aging.103453 · Cited by 16
Primary Immunodeficiency Syndromes
Slatter, M. A., & Gennery, A. R. (2010) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-6448-9_14 · Cited by 15
NBS1 deficiency promotes genome instability by affecting DNA damage signaling pathway and impairing telomere integrity
Hou, Y., Toh, M. T., & Wang, X. (2011) · Cell Biochemistry and Function · doi:10.1002/cbf.1840 · Cited by 14
DNA Repair Cofactors ATMIN and NBS1 Are Required to Suppress T Cell Activation
Procházková, J., Sakaguchi, S., Owusu, M., Mazouzi, A., Wiedner, M., Velimezi, G., Moder, M., Turchinovich, G., Hladik, A., Gurnhofer, E., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005645 · Cited by 15
Modeling the Study of DNA Damage Responses in Mice
Specks, J., Nieto-Soler, M., Lopez-Contreras, A. J., & Fernández-Capetillo, Ó. (2015) · Methods in molecular biology · doi:10.1007/978-1-4939-2297-0_21 · Cited by 13
High prevalence of theNBN gene mutation c.657-661del5 in Southeast Germany
Maurer, M. H., Hoffmann, K., Sperling, K., & Varon, R. (2010) · Journal of Applied Genetics · doi:10.1007/bf03195730 · Cited by 15
NBS1 facilitates preribosomal RNA biogenesis
Luo, M., & Yu, X. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2422029122 · Cited by 10
Deficiency of the DNA repair protein nibrin increases the basal but not the radiation induced mutation frequency in vivo
Wessendorf, P., Vijg, J., Nussenzweig, A., & Digweed, M. (2014) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2014.07.001 · Cited by 12
Self-citation
Early‐stage apoptosis is associated with DNA‐damage‐independent ATM phosphorylation and chromatin decondensation in NIH3T3 fibroblasts
Schou, K. B., Schneider, L. H., Christensen, S. T., & Hoffmann, E. K. (2007) · Cell Biology International · doi:10.1016/j.cellbi.2007.08.019 · Cited by 12
The Role of MRN in the S-Phase DNA Damage Checkpoint Is Independent of Its Ctp1-dependent Roles in Double-Strand Break Repair and Checkpoint Signaling
Porter-Goff, M. E., & Rhind, N. (2009) · Molecular Biology of the Cell · doi:10.1091/mbc.e08-09-0986 · Cited by 12
A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management
Szeliga, A., Zysnarska, A., Szklarska, Z., Truszkowska, E., Podfigurna, A., Czyzyk, A., Genazzani, A. R., Chrzańowska, K., & Męczekalski, B. (2019) · Gynecological Endocrinology · doi:10.1080/09513590.2019.1626366 · Cited by 11
Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application
Salewsky, B., Hildebrand, G., Rothe, S., Parplys, A. C., Radszewski, J., Kieslich, M., Wessendorf, P., Krenzlin, H., Borgmann, K., Nussenzweig, A., et al. (2015) · Molecular Therapy · doi:10.1038/mt.2015.144 · Cited by 10
Self-citation
Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans
Islam, A., Chakraborty, A., Gambardella, S., Campopiano, R., Sarker, A. H., Boldogh, I. R., & Hazra, T. K. (2023) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2023.104714 · Cited by 10
Successful Treatment of Diffuse Large B-Cell Non-Hodgkin Lymphoma with Modified CHOP (Cyclophosphamide/Doxorubicin/Vincristine/ Prednisone) Chemotherapy and Rituximab in a Patient with Nijmegen Syndrome
Dumić, M., Radman, I., Krnić, N., Nola, M., Kušec, R., Begović, D., Labar, B., & Radoš, M. (2007) · Clinical Lymphoma & Myeloma · doi:10.3816/clm.2007.n.046 · Cited by 10
Nijmegen breakage syndrome: The clearance pathway for mutant nibrin protein is allele specific
Salewsky, B., Wessendorf, P., Hirsch, D. S., Krenzlin, H., & Digweed, M. (2013) · Gene · doi:10.1016/j.gene.2013.02.033 · Cited by 9
Regulation of DNA damage-induced ATM activation by histone modifications
Li, Z., Chen, Y., Tang, M., Li, Y., & Zhu, W. (2019) · Genome Instability & Disease · doi:10.1007/s42764-019-00004-8 · Cited by 9
Double-strand break repair and mis-repair in 3D
Zagelbaum, J., & Gautier, J. (2022) · DNA repair · doi:10.1016/j.dnarep.2022.103430 · Cited by 9
NBS1, the Nijmegen breakage syndrome gene product, regulates neuronal proliferation and differentiation
Lee, W., Chang, W., Huang, C., & Wu, K. (2007) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2007.04477.x · Cited by 9
Signalling DNA Damage
Joaquin, A., & Fernández-Capetillo, Ó. (2012) · InTech eBooks · doi:10.5772/50863 · Cited by 14
The Molecular Biology of Cancer
Tobias, E. S. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00021-5 · Cited by 8
Modeling disease in the mouse: Lessons from DNA damage response and cell cycle control genes
Adelman, C. A., Petrini, J. H. J., & Attwooll, C. L. (2005) · Journal of Cellular Biochemistry · doi:10.1002/jcb.20701 · Cited by 7
Targeting DNA damage response: Threshold, chromatin landscape and beyond
Gonfloni, S. (2013) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2012.12.006 · Cited by 7
Purification and Biophysical Characterization of the Mre11-Rad50-Nbs1 Complex
Myler, L. R., Soniat, M. M., Zhang, X., Deshpande, R. A., Paull, T. T., & Finkelstein, I. J. (2019) · Methods in molecular biology · doi:10.1007/978-1-4939-9520-2_20 · Cited by 7
Ion Irradiation as a Tool to Reveal the Spatiotemporal Dynamics of DNA Damage Response Processes
Taucher-Scholz, G., & Jakob, B. (2006) · Springer eBooks · doi:10.1007/7050_015 · Cited by 7
Reversible mislocalization of a disease-associated MRE11 splice variant product
Hartlerode, A. J., Regal, J. A., & Ferguson, D. O. (2018) · Scientific Reports · doi:10.1038/s41598-018-28370-5 · Cited by 6
Generation of Gross Chromosomal Rearrangements by a Single Engineered DNA Double Strand Break
Qiu, Z., Zhang, Z., Roschke, A. V., Varga, T., & Aplan, P. D. (2017) · Scientific Reports · doi:10.1038/srep43156 · Cited by 7
The Multiple Faces of the MRN Complex: Roles in Medulloblastoma and Beyond
Petroni, M., Monica, V. L., Fabretti, F., Augusto, M., Battaglini, D., Polonara, F., Giulio, S. D., & Giannini, G. (2023) · Cancers · doi:10.3390/cancers15143599 · Cited by 5
Interplay Between γH2AX and 53BP1 Pathways in DNA Double-Strand Break Repair Response
Fatouros, C., & Rogakou, E. P. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-221-2_13 · Cited by 5
Loss of p53-regulatory protein IFI16 induces NBS1 leading to activation of p53-mediated checkpint by phosphorylation of p53 SER37
Tawara, H. (2007) · Frontiers in bioscience · doi:10.2741/2674 · Cited by 5
Defective Signal Joint Recombination in Fanconi Anemia Fibroblasts Reveals a Role for Rad50 in V(D)J Recombination
Donahue, S. L., Tabah, A. A., Schmitz, K. R., Aaron, A. E., & Campbell, C. J. (2007) · Journal of Molecular Biology · doi:10.1016/j.jmb.2007.03.014 · Cited by 5
Correction: Nbn and Atm Cooperate in a Tissue and Developmental Stage-Specific Manner to Prevent Double Strand Breaks and Apoptosis in Developing Brain and Eye
Rodrigues, P. M. G., Grigaravičius, P., Remus, M., Cavalheiro, G. R., Gomes, A. L., Rocha-Martins, M., Frappart, L., Reuß, D., McKinnon, P. J., von Deimling, A., et al. (2013) · PLoS ONE · doi:10.1371/annotation/b38f50e0-04b6-42c5-8b19-50be747a38f3 · Cited by 5
The MRE11-RAD50-NBS1 complex both starts and extends DNA end resection in mouse meiosisPreprint
Kim, S., Yamada, S., Li, T., Canasto‐Chibuque, C., Kim, J. H., Marcet-Ortega, M., Xu, J., Eng, D. Y., Feeney, L., Petrini, J. H. J., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.08.17.608390 · Cited by 5
The radioprotective agent WR1065 protects cells from radiation damage by regulating the activity of the Tip60 acetyltransferase.
Xu, Y., Parmar, K., Du, F., Price, B. D., & Sun, Y. (2011) · Europe PMC (PubMed Central) · Cited by 4
Simultaneous Nbs1 and p53 inactivation in neural progenitors triggers high‐grade gliomas
Reuß, D., Downing, S. M., Camacho, C. V., Wang, Y., Piro, R. M., Herold‐Mende, C. C., Wang, Z., Hofmann, T. G., Sahm, F., von Deimling, A., et al. (2023) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12915 · Cited by 4
Chapter 8 Ataxia-Telangiectasia
Crawford, T. O., & Shiloh, Y. (2007) · Blue books of neurology · doi:10.1016/s1877-184x(09)70082-6 · Cited by 3
BRCT domains as chromatin readers: Structure, function, and clinical implications
Kruswick, A., Lam, F. C., Kong, Y. W., Smerdon, S. J., & Yaffe, M. B. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-823376-4.00012-4 · Cited by 4
DNA Damage Sensing and Signaling
Durocher, D. (2009) · Springer eBooks · doi:10.1007/978-90-481-2561-6_1 · Cited by 2
Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA
Demuth, I., Krebs, S. K., Dutrannoy, V., Linke, C., Krobitsch, S., Varon, R., Lang, C., Raab, A., Sperling, K., & Digweed, M. (2018) · PLoS ONE · doi:10.1371/journal.pone.0207315 · Cited by 2
Manipulating the Mouse Genome Using Recombineering
Sharan, K. B. S. K. (2013) · Advancements in Genetic Engineering · doi:10.4172/2169-0111.1000108 · Cited by 1
The ATM-mediated DNA-damage response
Shiloh, Y. (2013) · Cambridge University Press eBooks · doi:10.1017/cbo9781139046947.035 · Cited by 1
Nibrin Double Strand Breakage and its Role in Development of Cancers
Abidi, F., Hossein, M., Akram, S., & Anjum, A. (2020) · Journal of The Pakistan Dental Association · doi:10.25301/jpda.292.94 · Cited by 1
Damage and Replication Stress Responses
Wang, H., Shen, P., & Zhu, W. (2011) · InTech eBooks · doi:10.5772/21986 · Cited by 1
Assoziationsstudie zur klinischen Variabilität bei Patienten mit dem Nijmegen Breakage Syndrom
Kim, R. (2010) · Universitätsbibliothek der FU Berlin Hochschulschriftenstelle u. Dokumentenserver · doi:10.17169/refubium-11421 · Cited by 1
Targeting ATM/ATR in the DNA Damage Checkpoint
Ackermann, J. M., & El‐Deiry, W. S. (2008) · Humana Press eBooks · doi:10.1007/978-1-59745-274-8_4 · Cited by 1
Interfering with DNA Damage Signals: Radiosensitizing Prostate Cancer Using Small Peptides
Xu, B. (2008) · doi:10.21236/ada497871 · Cited by 1

Authors: Difilippantonio, S., Celeste, A., Fernandez-Capetillo, O., Chen, H.-T., Martin, B. R. S., Laethem, F. V., Yang, Y.-P., Petukhova, G. V., Eckhaus, M., Feigenbaum, L., Manova, K., Kruhlak, M., Camerini-Otero, R. D., Sharan, S., Nussenzweig, M., & Nussenzweig, A.
Affiliations: National Institutes of Health (US)
National Cancer Institute (US)
Memorial Sloan Kettering Cancer Center (US)
Howard Hughes Medical Institute (US)
Corresponding author: Nussenzweig, André
ORCID: Difilippantonio, Simone
Manova, Katia
Kruhlak, Michael
Sharan, Shyam
Nussenzweig, Michel
Nussenzweig, André
Venue: Nature Cell Biology
Publisher: Springer Science and Business Media LLC
Published: 2005-06-19
Volume: 7
Issue: 7
Pages: 675-685
ISSN: 1465-7392 (ISSN-L)
1476-4679
DOI: 10.1038/ncb1270
OpenAlex: W2152456839
Cited by: 227
References: 47
Citations by year: 2025: 2 · 2024: 2 · 2023: 4 · 2022: 1 · 2021: 2 · 2020: 4 · 2019: 7 · 2018: 4 · 2017: 4 · 2016: 2 · 2015: 7 · 2014: 12 · 2013: 16 · 2012: 15
FWCI: 12.17
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Cell Biology (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Effects of Radiation Exposure
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
Keywords: NBS1, ATM kinase activation, Nijmegen breakage syndrome, ataxia telangiectasia, ATR kinase, ionizing radiation response, DNA replication inhibitors, hypotonic stress, forkhead-associated domain, DNA damage signaling, meiotic progression, cell cycle checkpoints, immunodeficiency, cancer susceptibility, humanized mice
MeSH terms: MRE11 Homologue Protein, Animals, B-Lymphocytes, Binding Sites, Cell Cycle, Chromosome Aberrations, Disease Models, Animal, DNA Damage, DNA Replication, DNA-Binding Proteins, Female, Gonads, Humans, Lymphoma, Non-Hodgkin, Male, Mice, Transgenic, Mutation, Nuclear Proteins, Phosphorylation, Syndrome, T-Lymphocytes, Tumor Suppressor Protein p53, Protein Serine-Threonine Kinases, Immunoglobulin Class Switching, Acid Anhydride Hydrolases, Mice, Knockout, ATP-Binding Cassette Transporters, Cell Cycle Proteins, Chromosome Breakage, Genetic Predisposition to Disease, Chromosome Disorders, Tumor Suppressor Proteins, DNA Repair Enzymes, Mice, Ataxia Telangiectasia Mutated Proteins

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks