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SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.

Lee P, Martin NT, Nakamura K, Azghadi S, Amiri M, Ben-David U, Perlman S, Gatti RA, Hu H, Lowry WE.

Nat Commun. 2013;4:1824. doi: 10.1038/ncomms2824.


Brain and induced pluripotent stem cell-derived neural stem cells as an in vitro model of neurodegeneration in ataxia-telangiectasia.

Carlessi L, Fusar Poli E, Delia D.

Exp Biol Med (Maywood). 2013 Mar;238(3):301-7. doi: 10.1177/1535370213480703. Review.


Induced pluripotent stem cells from ataxia-telangiectasia recapitulate the cellular phenotype.

Nayler S, Gatei M, Kozlov S, Gatti R, Mar JC, Wells CA, Lavin M, Wolvetang E.

Stem Cells Transl Med. 2012 Jul;1(7):523-35. doi: 10.5966/sctm.2012-0024. Epub 2012 Jun 28.


A patient-derived olfactory stem cell disease model for ataxia-telangiectasia.

Stewart R, Kozlov S, Matigian N, Wali G, Gatei M, Sutharsan R, Bellette B, Wraith-Kijas A, Cochrane J, Coulthard M, Perry C, Sinclair K, Mackay-Sim A, Lavin MF.

Hum Mol Genet. 2013 Jun 15;22(12):2495-509. doi: 10.1093/hmg/ddt101. Epub 2013 Mar 7.


Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

Stewart GS, Last JI, Stankovic T, Haites N, Kidd AM, Byrd PJ, Taylor AM.

J Biol Chem. 2001 Aug 10;276(32):30133-41. Epub 2001 May 29.


Defective p53 response and apoptosis associated with an ataxia-telangiectasia-like phenotype.

Gueven N, Becherel OJ, Birrell G, Chen P, DelSal G, Carney JP, Grattan-Smith P, Lavin MF.

Cancer Res. 2006 Mar 15;66(6):2907-12.


Targeting ATM ameliorates mutant Huntingtin toxicity in cell and animal models of Huntington's disease.

Lu XH, Mattis VB, Wang N, Al-Ramahi I, van den Berg N, Fratantoni SA, Waldvogel H, Greiner E, Osmand A, Elzein K, Xiao J, Dijkstra S, de Pril R, Vinters HV, Faull R, Signer E, Kwak S, Marugan JJ, Botas J, Fischer DF, Svendsen CN, Munoz-Sanjuan I, Yang XW.

Sci Transl Med. 2014 Dec 24;6(268):268ra178. doi: 10.1126/scitranslmed.3010523.


ATM-deficient human neural stem cells as an in vitro model system to study neurodegeneration.

Carlessi L, Fusar Poli E, De Filippis L, Delia D.

DNA Repair (Amst). 2013 Aug;12(8):605-11. doi: 10.1016/j.dnarep.2013.04.013. Epub 2013 May 23. Review.


The role of ATM and DNA damage in neurons: upstream and downstream connections.

Herrup K, Li J, Chen J.

DNA Repair (Amst). 2013 Aug;12(8):600-4. doi: 10.1016/j.dnarep.2013.04.012. Epub 2013 May 13.


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.


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.


[Mosaic forms of ataxia-telangiectasia].

Kuranova ML, Pleskach NM, Ledashcheva TA, Mikhel'son VM, Spivak IM.

Tsitologiia. 2014;56(8):619-29. Russian.


Differing effects of breast cancer 1, early onset (BRCA1) and ataxia-telangiectasia mutated (ATM) mutations on cellular responses to ionizing radiation.

Mamon HJ, Dahlberg W, Azzam EI, Nagasawa H, Muto MG, Little JB.

Int J Radiat Biol. 2003 Oct;79(10):817-29.


The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.

Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, Jaspers NG, Raams A, Byrd PJ, Petrini JH, Taylor AM.

Cell. 1999 Dec 10;99(6):577-87.


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.


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.


ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation.

Stiff T, O'Driscoll M, Rief N, Iwabuchi K, Löbrich M, Jeggo PA.

Cancer Res. 2004 Apr 1;64(7):2390-6.


Role for ATM in DNA damage-induced phosphorylation of BRCA1.

Gatei M, Scott SP, Filippovitch I, Soronika N, Lavin MF, Weber B, Khanna KK.

Cancer Res. 2000 Jun 15;60(12):3299-304.

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