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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 PM, Grigaravicius P, Remus M, Cavalheiro GR, Gomes AL, Rocha-Martins M, Frappart L, Reuss D, McKinnon PJ, von Deimling A, Martins RA, Frappart PO.

PLoS One. 2013 Jul 30;8(7):e69209. doi: 10.1371/journal.pone.0069209. Print 2013. Erratum in: PLoS One. 2013;8(8). doi:10.1371/annotation/b38f50e0-04b6-42c5-8b19-50be747a38f3. Martins, Mauricio R [corrected to Rocha-Martins, Maurício].


An essential function for NBS1 in the prevention of ataxia and cerebellar defects.

Frappart PO, Tong WM, Demuth I, Radovanovic I, Herceg Z, Aguzzi A, Digweed M, Wang ZQ.

Nat Med. 2005 May;11(5):538-44. Epub 2005 Apr 10.


NBN phosphorylation regulates the accumulation of MRN and ATM at sites of DNA double-strand breaks.

Wen J, Cerosaletti K, Schultz KJ, Wright JA, Concannon P.

Oncogene. 2013 Sep 12;32(37):4448-56. doi: 10.1038/onc.2012.443. Epub 2012 Nov 12.


The distinct signaling regulatory roles in the cortical atrophy and cerebellar apoptosis of newborn Nbn-deficient mice.

Liu B, Chen X.

Cell Mol Neurobiol. 2013 Nov;33(8):1043-53. doi: 10.1007/s10571-013-9971-2. Epub 2013 Aug 11.


Nbn gene inactivation in the CNS of mouse inhibits the myelinating ability of the mature cortical oligodendrocytes.

Liu B, Chen X, Wang ZQ, Tong WM.

Glia. 2014 Jan;62(1):133-44. doi: 10.1002/glia.22593.


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

Mendez G, Cilli D, Berardinelli F, Viganotti M, Ascenzi P, Tanzarella C, Antoccia A, di Masi A.

IUBMB Life. 2012 Oct;64(10):853-61. doi: 10.1002/iub.1077. Epub 2012 Sep 3.


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 ZQ, Shiloh Y, Barzilai A.

J Biol Chem. 2011 Apr 29;286(17):15361-76. doi: 10.1074/jbc.M110.204172. Epub 2011 Feb 7.


The ATM signaling cascade promotes recombination-dependent pachytene arrest in mouse spermatocytes.

Pacheco S, Marcet-Ortega M, Lange J, Jasin M, Keeney S, Roig I.

PLoS Genet. 2015 Mar 13;11(3):e1005017. doi: 10.1371/journal.pgen.1005017. eCollection 2015 Mar.


A systematic proteomic study of irradiated DNA repair deficient Nbn-mice.

Melchers A, Stöckl L, Radszewski J, Anders M, Krenzlin H, Kalischke C, Scholz R, Jordan A, Nebrich G, Klose J, Sperling K, Digweed M, Demuth I.

PLoS One. 2009;4(5):e5423. doi: 10.1371/journal.pone.0005423. Epub 2009 May 1. Erratum in: PLoS One. 2009;4(5): 10.1371/annotation/06306df9-1db3-4e7b-a7ce-18338b655967.


Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.

Keimling M, Volcic M, Csernok A, Wieland B, Dörk T, Wiesmüller L.

FASEB J. 2011 Nov;25(11):3849-60. doi: 10.1096/fj.11-185546. Epub 2011 Jul 21.


Requirement for DNA ligase IV during embryonic neuronal development.

Gatz SA, Ju L, Gruber R, Hoffmann E, Carr AM, Wang ZQ, Liu C, Jeggo PA.

J Neurosci. 2011 Jul 6;31(27):10088-100. doi: 10.1523/JNEUROSCI.1324-11.2011. Erratum in: J Neurosci. 2011 Sep 21;31(38):13695.


DNA damage and oxidative injury are associated with hypomyelination in the corpus callosum of newborn Nbn(CNS-del) mice.

Liu B, Chen X, Wang ZQ, Tong WM.

J Neurosci Res. 2014 Feb;92(2):254-66. doi: 10.1002/jnr.23313. Epub 2013 Nov 23.


ATM localization and gene expression in the adult mouse eye.

Leemput J, Masson C, Bigot K, Errachid A, Dansault A, Provost A, Gadin S, Aoufouchi S, Menasche M, Abitbol M.

Mol Vis. 2009;15:393-416. Epub 2009 Feb 20.


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

Dzikiewicz-Krawczyk A, Mosor M, Januszkiewicz D, Nowak J.

Mutagenesis. 2012 May;27(3):337-43. doi: 10.1093/mutage/ger084. Epub 2011 Nov 30.


The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex.

Stracker TH, Morales M, Couto SS, Hussein H, Petrini JH.

Nature. 2007 May 10;447(7141):218-21. Epub 2007 Apr 11.


53BP1-dependent robust localized KAP-1 phosphorylation is essential for heterochromatic DNA double-strand break repair.

Noon AT, Shibata A, Rief N, Löbrich M, Stewart GS, Jeggo PA, Goodarzi AA.

Nat Cell Biol. 2010 Feb;12(2):177-84. doi: 10.1038/ncb2017. Epub 2010 Jan 17.


Differential function of NBS1 and ATR in neurogenesis.

Zhou Z, Bruhn C, Wang ZQ.

DNA Repair (Amst). 2012 Feb 1;11(2):210-21. doi: 10.1016/j.dnarep.2011.10.021. Epub 2011 Nov 9.


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.

Mutat Res. 2014 Nov;769:11-6. doi: 10.1016/j.mrfmmm.2014.07.001. Epub 2014 Jul 11.


The impact of heterochromatin on DSB repair.

Goodarzi AA, Noon AT, Jeggo PA.

Biochem Soc Trans. 2009 Jun;37(Pt 3):569-76. doi: 10.1042/BST0370569.


MRN complex function in the repair of chromosomal Rag-mediated DNA double-strand breaks.

Helmink BA, Bredemeyer AL, Lee BS, Huang CY, Sharma GG, Walker LM, Bednarski JJ, Lee WL, Pandita TK, Bassing CH, Sleckman BP.

J Exp Med. 2009 Mar 16;206(3):669-79. doi: 10.1084/jem.20081326. Epub 2009 Feb 16.

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