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Items: 1 to 20 of 197

1.

Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity.

Menotta M, Biagiotti S, Bianchi M, Chessa L, Magnani M.

J Biol Chem. 2012 Nov 30;287(49):41352-63. doi: 10.1074/jbc.M112.344473. Epub 2012 Oct 10.

2.

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D.

Hum Mol Genet. 1999 Jan;8(1):69-79.

PMID:
9887333
3.

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA, Gómez Garcia EB, van der Knaap MS, Lincke CR, Laan LA, Tijssen MA, van Rijn MA, Majoor-Krakauer D, Visser M, van 't Veer LJ, Kleijer WJ, van de Warrenburg BP, Warris A, de Groot IJ, de Groot R, Broeks A, Preijers F, Kremer BH, Weemaes CM, Taylor MA, van Deuren M, Willemsen MA.

Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25.

PMID:
22213089
4.

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

Jacquemin V, Rieunier G, Jacob S, Bellanger D, d'Enghien CD, Laugé A, Stoppa-Lyonnet D, Stern MH.

Eur J Hum Genet. 2012 Mar;20(3):305-12. doi: 10.1038/ejhg.2011.196. Epub 2011 Nov 9.

5.

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.

Delia D, Piane M, Buscemi G, Savio C, Palmeri S, Lulli P, Carlessi L, Fontanella E, Chessa L.

Hum Mol Genet. 2004 Sep 15;13(18):2155-63. Epub 2004 Jul 21.

PMID:
15269180
6.

ATM and the molecular pathogenesis of ataxia telangiectasia.

McKinnon PJ.

Annu Rev Pathol. 2012;7:303-21. doi: 10.1146/annurev-pathol-011811-132509. Epub 2011 Oct 24. Review.

PMID:
22035194
7.

Enhanced phosphorylation of transcription factor sp1 in response to herpes simplex virus type 1 infection is dependent on the ataxia telangiectasia-mutated protein.

Iwahori S, Shirata N, Kawaguchi Y, Weller SK, Sato Y, Kudoh A, Nakayama S, Isomura H, Tsurumi T.

J Virol. 2007 Sep;81(18):9653-64. Epub 2007 Jul 3.

8.

Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia.

Li J, Chen J, Ricupero CL, Hart RP, Schwartz MS, Kusnecov A, Herrup K.

Nat Med. 2012 May;18(5):783-90. doi: 10.1038/nm.2709.

9.

Characterization of the porcine ATM gene: towards the generation of a novel non-murine animal model for Ataxia-Telangiectasia.

Rogatcheva MB, Fritz KL, Rund LA, Pollock CB, Beever JE, Counter CM, Schook LB.

Gene. 2007 Dec 15;405(1-2):27-35. Epub 2007 Aug 30.

PMID:
17933474
10.

Constitutive phosphorylation of ATM in lymphoblastoid cell lines from patients with ICF syndrome without downstream kinase activity.

Goldstine JV, Nahas S, Gamo K, Gartler SM, Hansen RS, Roelfsema JH, Gatti RA, Marahrens Y.

DNA Repair (Amst). 2006 Apr 8;5(4):432-43. Epub 2006 Jan 19.

PMID:
16426903
11.

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

Goodarzi AA, Jonnalagadda JC, Douglas P, Young D, Ye R, Moorhead GB, Lees-Miller SP, Khanna KK.

EMBO J. 2004 Nov 10;23(22):4451-61. Epub 2004 Oct 28.

12.

Functional switching of ATM: sensor of DNA damage in proliferating cells and mediator of Akt survival signal in post-mitotic human neuron-like cells.

Li Y, Xiong H, Yang DQ.

Chin J Cancer. 2012 Aug;31(8):364-72. doi: 10.5732/cjc.012.10086. Epub 2012 Jun 26.

13.

ATM: the protein encoded by the gene mutated in the radiosensitive syndrome ataxia-telangiectasia.

Lavin MF, Khanna KK.

Int J Radiat Biol. 1999 Oct;75(10):1201-14. Review.

PMID:
10549596
14.

Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.

Saviozzi S, Saluto A, Piane M, Prudente S, Migone N, DeMarchi M, Brusco A, Chessa L.

Hum Mutat. 2003 Apr;21(4):450.

PMID:
12655570
15.

Nuclear ataxia-telangiectasia mutated (ATM) mediates the cellular response to DNA double strand breaks in human neuron-like cells.

Biton S, Dar I, Mittelman L, Pereg Y, Barzilai A, Shiloh Y.

J Biol Chem. 2006 Jun 23;281(25):17482-91. Epub 2006 Apr 20.

16.

Ionizing radiation induces ataxia telangiectasia mutated kinase (ATM)-mediated phosphorylation of LKB1/STK11 at Thr-366.

Sapkota GP, Deak M, Kieloch A, Morrice N, Goodarzi AA, Smythe C, Shiloh Y, Lees-Miller SP, Alessi DR.

Biochem J. 2002 Dec 1;368(Pt 2):507-16.

17.

Loss of ATM positively regulates the expression of hypoxia inducible factor 1 (HIF-1) through oxidative stress: Role in the physiopathology of the disease.

Ousset M, Bouquet F, Fallone F, Biard D, Dray C, Valet P, Salles B, Muller C.

Cell Cycle. 2010 Jul 15;9(14):2814-22. Epub 2010 Jul 3.

PMID:
20676049
18.

Dexamethasone improves redox state in ataxia telangiectasia cells by promoting an NRF2-mediated antioxidant response.

Biagiotti S, Menotta M, Orazi S, Spapperi C, Brundu S, Fraternale A, Bianchi M, Rossi L, Chessa L, Magnani M.

FEBS J. 2016 Nov;283(21):3962-3978. doi: 10.1111/febs.13901. Epub 2016 Oct 12.

PMID:
27636396
19.

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.

PMID:
21778326
20.

Cytoplasmic ATM in neurons modulates synaptic function.

Li J, Han YR, Plummer MR, Herrup K.

Curr Biol. 2009 Dec 29;19(24):2091-6. doi: 10.1016/j.cub.2009.10.039. Epub 2009 Dec 3.

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