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Items: 1 to 20 of 112

1.

Inactive Atm abrogates DSB repair in mouse cerebellum more than does Atm loss, without causing a neurological phenotype.

Tal E, Alfo M, Zha S, Barzilai A, De Zeeuw CI, Ziv Y, Shiloh Y.

DNA Repair (Amst). 2018 Dec;72:10-17. doi: 10.1016/j.dnarep.2018.10.001. Epub 2018 Oct 11.

2.

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.

3.

Phenotypic Analysis of ATM Protein Kinase in DNA Double-Strand Break Formation and Repair.

Mian E, Wiesmüller L.

Methods Mol Biol. 2017;1599:317-334. doi: 10.1007/978-1-4939-6955-5_23.

PMID:
28477129
4.

Alteration in 5-hydroxymethylcytosine-mediated epigenetic regulation leads to Purkinje cell vulnerability in ATM deficiency.

Jiang D, Zhang Y, Hart RP, Chen J, Herrup K, Li J.

Brain. 2015 Dec;138(Pt 12):3520-36. doi: 10.1093/brain/awv284. Epub 2015 Oct 27.

5.

Studying the cerebellar DNA damage response in the tissue culture dish.

Tzur-Gilat A, Ziv Y, Mittelman L, Barzilai A, Shiloh Y.

Mech Ageing Dev. 2013 Oct;134(10):496-505. doi: 10.1016/j.mad.2013.04.001. Epub 2013 Apr 9.

PMID:
23583690
6.

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].

7.

Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia.

Sharma NK, Lebedeva M, Thomas T, Kovalenko OA, Stumpf JD, Shadel GS, Santos JH.

DNA Repair (Amst). 2014 Jan;13:22-31. doi: 10.1016/j.dnarep.2013.11.002. Epub 2013 Dec 15.

8.

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

Dar I, Biton S, Shiloh Y, Barzilai A.

J Neurosci. 2006 Jul 19;26(29):7767-74.

9.

Expression of ATM in ataxia telangiectasia fibroblasts rescues defects in DNA double-strand break repair in nuclear extracts.

Li Y, Carty MP, Oakley GG, Seidman MM, Medvedovic M, Dixon K.

Environ Mol Mutagen. 2001;37(2):128-40.

PMID:
11246219
10.

The appropriateness of the mouse model for ataxia-telangiectasia: neurological defects but no neurodegeneration.

Lavin MF.

DNA Repair (Amst). 2013 Aug;12(8):612-9. doi: 10.1016/j.dnarep.2013.04.014. Epub 2013 Jun 2. Review.

PMID:
23731731
11.

ATM specifically mediates repair of double-strand breaks with blocked DNA ends.

Álvarez-Quilón A, Serrano-Benítez A, Lieberman JA, Quintero C, Sánchez-Gutiérrez D, Escudero LM, Cortés-Ledesma F.

Nat Commun. 2014 Feb 27;5:3347. doi: 10.1038/ncomms4347.

12.

Ataxia telangiectasia: a review.

Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM.

Orphanet J Rare Dis. 2016 Nov 25;11(1):159. Review.

13.

Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1.

Balmus G, Zhu M, Mukherjee S, Lyndaker AM, Hume KR, Lee J, Riccio ML, Reeves AP, Sutter NB, Noden DM, Peters RM, Weiss RS.

Hum Mol Genet. 2012 Aug 1;21(15):3408-20. doi: 10.1093/hmg/dds173. Epub 2012 May 9.

14.

Role of chromatin structure modulation by the histone deacetylase inhibitor trichostatin A on the radio-sensitivity of ataxia telangiectasia.

Meschini R, Morucci E, Berni A, Lopez-Martinez W, Palitti F.

Mutat Res. 2015 Jul;777:52-9. doi: 10.1016/j.mrfmmm.2015.04.009. Epub 2015 Apr 20.

PMID:
25942615
15.

A nervous predisposition to unrepaired DNA double strand breaks.

Reynolds JJ, Stewart GS.

DNA Repair (Amst). 2013 Aug;12(8):588-99. doi: 10.1016/j.dnarep.2013.04.011. Epub 2013 May 17. Review.

PMID:
23684796
16.
17.

Functional and molecular defects of hiPSC-derived neurons from patients with ATM deficiency.

Carlessi L, Fusar Poli E, Bechi G, Mantegazza M, Pascucci B, Narciso L, Dogliotti E, Sala C, Verpelli C, Lecis D, Delia D.

Cell Death Dis. 2014 Jul 17;5:e1342. doi: 10.1038/cddis.2014.310.

18.

Evidence for the Deregulation of Protein Turnover Pathways in Atm-Deficient Mouse Cerebellum: An Organotypic Study.

Kim CD, Reed RE, Juncker MA, Fang Z, Desai SD.

J Neuropathol Exp Neurol. 2017 Jul 1;76(7):578-584. doi: 10.1093/jnen/nlx038.

PMID:
28535250
19.
20.

Ataxia telangiectasia: more variation at clinical and cellular levels.

Taylor AM, Lam Z, Last JI, Byrd PJ.

Clin Genet. 2015 Mar;87(3):199-208. doi: 10.1111/cge.12453. Epub 2014 Sep 8. Review.

PMID:
25040471

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