{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T00:59:25Z","timestamp":1790989165390,"version":"4.1.0"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2005,4,10]],"date-time":"2005-04-10T00:00:00Z","timestamp":1113091200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Med"],"published-print":{"date-parts":[[2005,5]]},"DOI":"10.1038\/nm1228","type":"journal-article","created":{"date-parts":[[2005,4,10]],"date-time":"2005-04-10T17:18:01Z","timestamp":1113153481000},"page":"538-544","source":"Crossref","is-referenced-by-count":151,"title":["An essential function for NBS1 in the prevention of ataxia and cerebellar defects"],"prefix":"10.1038","volume":"11","author":[{"given":"Pierre-Olivier","family":"Frappart","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Min","family":"Tong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilja","family":"Demuth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Radovanovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zdenko","family":"Herceg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriano","family":"Aguzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Digweed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhao-Qi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2005,4,10]]},"reference":[{"key":"BFnm1228_CR1","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1136\/jmg.33.2.153","volume":"33","author":"I van der Burgt","year":"1996","unstructured":"van der Burgt, I., Chrzanowska, K.H., Smeets, D. & Weemaes, C. Nijmegen breakage syndrome. J. Med. Genet. 33, 153\u2013156 (1996).","journal-title":"J. Med. Genet."},{"key":"BFnm1228_CR2","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1016\/S0092-8674(00)81547-0","volume":"99","author":"GS Stewart","year":"1999","unstructured":"Stewart, G.S. et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99, 577\u2013587 (1999).","journal-title":"Cell"},{"key":"BFnm1228_CR3","doi-asserted-by":"publisher","first-page":"8967","DOI":"10.1038\/sj.onc.1206136","volume":"21","author":"H Tauchi","year":"2002","unstructured":"Tauchi, H., Matsuura, S., Kobayashi, J., Sakamoto, S. & Komatsu, K. Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability. Oncogene 21, 8967\u20138980 (2002).","journal-title":"Oncogene"},{"key":"BFnm1228_CR4","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1038\/nrc1011","volume":"3","author":"Y Shiloh","year":"2003","unstructured":"Shiloh, Y. ATM and related protein kinases: safeguarding genome integrity. Nat. Rev. Cancer. 3, 155\u2013168 (2003).","journal-title":"Nat. Rev. Cancer."},{"key":"BFnm1228_CR5","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1016\/j.dnarep.2004.04.010","volume":"3","author":"HH Chun","year":"2004","unstructured":"Chun, H.H. & Gatti, R.A. Ataxia-telangiectasia, an evolving phenotype. DNA. Repair. (Amst). 3, 1187\u20131196 (2004).","journal-title":"DNA. Repair. (Amst)."},{"key":"BFnm1228_CR6","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1038\/nrm805","volume":"3","author":"D D'Amours","year":"2002","unstructured":"D'Amours, D. & Jackson, S.P. The Mre11 complex: at the crossroads of dna repair and checkpoint signalling. Nat. Rev. Mol. Cell. Biol. 3, 317\u2013327 (2002).","journal-title":"Nat. Rev. Mol. Cell. Biol."},{"key":"BFnm1228_CR7","first-page":"7263","volume":"63","author":"V Dumon-Jones","year":"2003","unstructured":"Dumon-Jones, V. et al. Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis. Cancer. Res. 63, 7263\u20137269 (2003).","journal-title":"Cancer. Res."},{"key":"BFnm1228_CR8","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/S0960-9822(01)00019-7","volume":"11","author":"J Zhu","year":"2001","unstructured":"Zhu, J., Petersen, S., Tessarollo, L. & Nussenzweig, A. Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice. Curr. Biol. 11, 105\u2013109 (2001).","journal-title":"Curr. Biol."},{"key":"BFnm1228_CR9","doi-asserted-by":"publisher","first-page":"2985","DOI":"10.1093\/nar\/25.15.2985","volume":"25","author":"Y Xiao","year":"1997","unstructured":"Xiao, Y. & Weaver, D.T. Conditional gene targeted deletion by Cre recombinase demonstrates the requirement for the double-strand break repair Mre11 protein in murine embryonic stem cells. Nucleic. Acids. Res. 25, 2985\u20132991 (1997).","journal-title":"Nucleic. Acids. Res."},{"key":"BFnm1228_CR10","doi-asserted-by":"publisher","first-page":"1447","DOI":"10.1093\/emboj\/21.6.1447","volume":"21","author":"J Kang","year":"2002","unstructured":"Kang, J., Bronson, R.T. & Xu, Y. Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair. Embo. J. 21, 1447\u20131455 (2002).","journal-title":"Embo. J."},{"key":"BFnm1228_CR11","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1016\/S0960-9822(02)00763-7","volume":"12","author":"BR Williams","year":"2002","unstructured":"Williams, B.R. et al. A murine model of Nijmegen breakage syndrome. Curr. Biol. 12, 648\u2013653 (2002).","journal-title":"Curr. Biol."},{"key":"BFnm1228_CR12","doi-asserted-by":"publisher","first-page":"1511","DOI":"10.1016\/S1097-2765(03)00455-6","volume":"12","author":"JW Theunissen","year":"2003","unstructured":"Theunissen, J.W. et al. Checkpoint failure and chromosomal instability without lymphomagenesis in Mre11(ATLD1\/ATLD1) mice. Mol. Cell. 12, 1511\u20131523 (2003).","journal-title":"Mol. Cell."},{"key":"BFnm1228_CR13","doi-asserted-by":"publisher","first-page":"8090","DOI":"10.1523\/JNEUROSCI.2263-04.2004","volume":"24","author":"MJ McConnell","year":"2004","unstructured":"McConnell, M.J. et al. Failed clearance of aneuploid embryonic neural progenitor cells leads to excess aneuploidy in the Atm-deficient but not the Trp53-deficient adult cerebral cortex. J. Neurosci. 24, 8090\u20138096 (2004).","journal-title":"J. Neurosci."},{"key":"BFnm1228_CR14","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1101\/gad.869001","volume":"15","author":"DM Allen","year":"2001","unstructured":"Allen, D.M. et al. Ataxia telangiectasia mutated is essential during adult neurogenesis. Genes. Dev. 15, 554\u2013566 (2001).","journal-title":"Genes. Dev."},{"key":"BFnm1228_CR15","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/S0092-8674(00)80086-0","volume":"86","author":"C Barlow","year":"1996","unstructured":"Barlow, C. et al. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 86, 159\u2013171 (1996).","journal-title":"Cell"},{"key":"BFnm1228_CR16","doi-asserted-by":"publisher","first-page":"2411","DOI":"10.1101\/gad.10.19.2411","volume":"10","author":"Y Xu","year":"1996","unstructured":"Xu, Y. et al. Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. Genes. Dev. 10, 2411\u20132422 (1996).","journal-title":"Genes. Dev."},{"key":"BFnm1228_CR17","doi-asserted-by":"publisher","first-page":"3336","DOI":"10.1073\/pnas.97.7.3336","volume":"97","author":"PR Borghesani","year":"2000","unstructured":"Borghesani, P.R. et al. Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice. Proc. Natl. Acad. Sci. USA. 97, 3336\u20133341 (2000).","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"BFnm1228_CR18","doi-asserted-by":"publisher","first-page":"1307","DOI":"10.1016\/S0960-9822(02)70717-3","volume":"6","author":"UA Betz","year":"1996","unstructured":"Betz, U.A., Vosshenrich, C.A., Rajewsky, K. & Muller, W. Bypass of lethality with mosaic mice generated by Cre-loxP-mediated recombination. Curr. Biol. 6, 1307\u20131316 (1996).","journal-title":"Curr. Biol."},{"key":"BFnm1228_CR19","doi-asserted-by":"publisher","first-page":"5774","DOI":"10.1038\/sj.onc.1206677","volume":"22","author":"P Fei","year":"2003","unstructured":"Fei, P. & El-Deiry, W.S. P53 and radiation responses. Oncogene 22, 5774\u20135783 (2003).","journal-title":"Oncogene"},{"key":"BFnm1228_CR20","doi-asserted-by":"publisher","first-page":"2809","DOI":"10.1038\/sj.onc.1207516","volume":"23","author":"EA Slee","year":"2004","unstructured":"Slee, E.A., O'Connor, D.J. & Lu, X. To die or not to die: how does p53 decide? Oncogene 23, 2809\u20132818 (2004).","journal-title":"Oncogene"},{"key":"BFnm1228_CR21","doi-asserted-by":"publisher","first-page":"2186","DOI":"10.1126\/science.1065518","volume":"294","author":"M Groszer","year":"2001","unstructured":"Groszer, M. et al. Negative regulation of neural stem\/progenitor cell proliferation by the Pten tumor suppressor gene in vivo. Science 294, 2186\u20132189 (2001).","journal-title":"Science"},{"key":"BFnm1228_CR22","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1016\/S0065-230X(01)83007-4","volume":"83","author":"Y Shiloh","year":"2001","unstructured":"Shiloh, Y. & Kastan, M.B. ATM: genome stability, neuronal development, and cancer cross paths. Adv. Cancer. Res. 83, 209\u2013254 (2001).","journal-title":"Adv. Cancer. Res."},{"key":"BFnm1228_CR23","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1038\/86920","volume":"27","author":"RS Maser","year":"2001","unstructured":"Maser, R.S., Zinkel, R. & Petrini, J.H. An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. Nat. Genet. 27, 417\u2013421 (2001).","journal-title":"Nat. Genet."},{"key":"BFnm1228_CR24","doi-asserted-by":"publisher","first-page":"2385","DOI":"10.1093\/hmg\/ddh278","volume":"13","author":"I Demuth","year":"2004","unstructured":"Demuth, I. et al. An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. Hum. Mol. Genet. 13, 2385\u20132397 (2004).","journal-title":"Hum. Mol. Genet."},{"key":"BFnm1228_CR25","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1016\/S0166-2236(98)01313-7","volume":"21","author":"D Goldowitz","year":"1998","unstructured":"Goldowitz, D. & Hamre, K. The cells and molecules that make a cerebellum. Trends. Neurosci. 21, 375\u2013382 (1998).","journal-title":"Trends. Neurosci."},{"key":"BFnm1228_CR26","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1023\/A:1009637512917","volume":"5","author":"Y Lee","year":"2000","unstructured":"Lee, Y. & McKinnon, P.J. ATM dependent apoptosis in the nervous system. Apoptosis 5, 523\u2013529 (2000).","journal-title":"Apoptosis"},{"key":"BFnm1228_CR27","doi-asserted-by":"publisher","first-page":"1141","DOI":"10.1016\/j.dnarep.2004.03.009","volume":"3","author":"CW Abner","year":"2004","unstructured":"Abner, C.W. & McKinnon, P.J. The DNA double-strand break response in the nervous system. DNA. Repair. (Amst). 3, 1141\u20131147 (2004).","journal-title":"DNA. Repair. (Amst)."},{"key":"BFnm1228_CR28","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1038\/90108","volume":"28","author":"X Xu","year":"2001","unstructured":"Xu, X. et al. Genetic interactions between tumor suppressors Brca1 and p53 in apoptosis, cell cycle and tumorigenesis. Nat. Genet. 28, 266\u2013271 (2001).","journal-title":"Nat. Genet."},{"key":"BFnm1228_CR29","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1016\/S0092-8674(00)81714-6","volume":"95","author":"Y Gao","year":"1998","unstructured":"Gao, Y. et al. A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis. Cell 95, 891\u2013902 (1998).","journal-title":"Cell"},{"key":"BFnm1228_CR30","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1038\/35009138","volume":"404","author":"Y Gao","year":"2000","unstructured":"Gao, Y. et al. Interplay of p53 and DNA-repair protein XRCC4 in tumorigenesis, genomic stability and development. Nature 404, 897\u2013900 (2000).","journal-title":"Nature"},{"key":"BFnm1228_CR31","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1038\/24172","volume":"396","author":"KM Frank","year":"1998","unstructured":"Frank, K.M. et al. Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV. Nature 396, 173\u2013177 (1998).","journal-title":"Nature"},{"key":"BFnm1228_CR32","doi-asserted-by":"publisher","first-page":"993","DOI":"10.1016\/S1097-2765(00)80264-6","volume":"5","author":"KM Frank","year":"2000","unstructured":"Frank, K.M. et al. DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway. Mol. Cell. 5, 993\u20131002 (2000).","journal-title":"Mol. Cell."},{"key":"BFnm1228_CR33","doi-asserted-by":"publisher","first-page":"7644","DOI":"10.1038\/sj.onc.1203015","volume":"18","author":"ND Lakin","year":"1999","unstructured":"Lakin, N.D. & Jackson, S.P. Regulation of p53 in response to DNA damage. Oncogene 18, 7644\u20137655 (1999).","journal-title":"Oncogene"},{"key":"BFnm1228_CR34","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1126\/science.1091496","volume":"304","author":"JH Lee","year":"2004","unstructured":"Lee, J.H. & Paull, T.T. Direct activation of the ATM protein kinase by the Mre11\/Rad50\/Nbs1 complex. Science 304, 93\u201396 (2004).","journal-title":"Science"},{"key":"BFnm1228_CR35","doi-asserted-by":"publisher","first-page":"845","DOI":"10.1016\/j.dnarep.2004.03.014","volume":"3","author":"TH Stracker","year":"2004","unstructured":"Stracker, T.H., Theunissen, J.W., Morales, M. & Petrini, J.H. The Mre11 complex and the metabolism of chromosome breaks: the importance of communicating and holding things together. DNA. Repair. (Amst). 3, 845\u2013854 (2004).","journal-title":"DNA. Repair. (Amst)."},{"key":"BFnm1228_CR36","first-page":"6395","volume":"62","author":"Y Lee","year":"2002","unstructured":"Lee, Y. & McKinnon, P.J. DNA ligase IV suppresses medulloblastoma formation. Cancer. Res. 62, 6395\u20136399 (2002).","journal-title":"Cancer. Res."},{"key":"BFnm1228_CR37","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1016\/S0002-9440(10)63825-4","volume":"162","author":"WM Tong","year":"2003","unstructured":"Tong, W.M. et al. Null mutation of DNA strand break-binding molecule poly(ADP-ribose) polymerase causes medulloblastomas in p53(\u2212\/\u2212) mice. Am. J. Pathol. 162, 343\u2013352 (2003).","journal-title":"Am. J. Pathol."},{"key":"BFnm1228_CR38","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1038\/nn1025","volume":"6","author":"PS Herson","year":"2003","unstructured":"Herson, P.S. et al. A mouse model of episodic ataxia type-1. Nat. Neurosci. 6, 378\u2013383 (2003).","journal-title":"Nat. Neurosci."}],"container-title":["Nature Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nm1228.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nm1228","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nm1228.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T22:21:32Z","timestamp":1684448492000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nm1228"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4,10]]},"references-count":38,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,5]]}},"alternative-id":["BFnm1228"],"URL":"https:\/\/doi.org\/10.1038\/nm1228","relation":{},"ISSN":["1078-8956","1546-170X"],"issn-type":[{"value":"1078-8956","type":"print"},{"value":"1546-170X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,4,10]]}}}