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Items: 1 to 20 of 93

1.

Purkinje cell-specific males absent on the first (mMof) gene deletion results in an ataxia-telangiectasia-like neurological phenotype and backward walking in mice.

Kumar R, Hunt CR, Gupta A, Nannepaga S, Pandita RK, Shay JW, Bachoo R, Ludwig T, Burns DK, Pandita TK.

Proc Natl Acad Sci U S A. 2011 Mar 1;108(9):3636-41. doi: 10.1073/pnas.1016524108. Epub 2011 Feb 14.

2.

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.

3.

The mammalian ortholog of Drosophila MOF that acetylates histone H4 lysine 16 is essential for embryogenesis and oncogenesis.

Gupta A, Guerin-Peyrou TG, Sharma GG, Park C, Agarwal M, Ganju RK, Pandita S, Choi K, Sukumar S, Pandita RK, Ludwig T, Pandita TK.

Mol Cell Biol. 2008 Jan;28(1):397-409. Epub 2007 Oct 29.

4.

T-cell-specific deletion of Mof blocks their differentiation and results in genomic instability in mice.

Gupta A, Hunt CR, Pandita RK, Pae J, Komal K, Singh M, Shay JW, Kumar R, Ariizumi K, Horikoshi N, Hittelman WN, Guha C, Ludwig T, Pandita TK.

Mutagenesis. 2013 May;28(3):263-70. doi: 10.1093/mutage/ges080. Epub 2013 Feb 5.

5.

A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.

Beraldi R, Chan CH, Rogers CS, Kovács AD, Meyerholz DK, Trantzas C, Lambertz AM, Darbro BW, Weber KL, White KA, Rheeden RV, Kruer MC, Dacken BA, Wang XJ, Davis BT, Rohret JA, Struzynski JT, Rohret FA, Weimer JM, Pearce DA.

Hum Mol Genet. 2015 Nov 15;24(22):6473-84. doi: 10.1093/hmg/ddv356. Epub 2015 Sep 15.

6.

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
7.

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.

PMID:
15821748
8.

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
9.

Mutations in String/CDC25 inhibit cell cycle re-entry and neurodegeneration in a Drosophila model of Ataxia telangiectasia.

Rimkus SA, Katzenberger RJ, Trinh AT, Dodson GE, Tibbetts RS, Wassarman DA.

Genes Dev. 2008 May 1;22(9):1205-20. doi: 10.1101/gad.1639608. Epub 2008 Apr 11.

10.

ATM, the Mre11/Rad50/Nbs1 complex, and topoisomerase I are concentrated in the nucleus of Purkinje neurons in the juvenile human brain.

Gorodetsky E, Calkins S, Ahn J, Brooks PJ.

DNA Repair (Amst). 2007 Nov;6(11):1698-707. Epub 2007 Aug 13.

11.

Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice.

Borghesani PR, Alt FW, Bottaro A, Davidson L, Aksoy S, Rathbun GA, Roberts TM, Swat W, Segal RA, Gu Y.

Proc Natl Acad Sci U S A. 2000 Mar 28;97(7):3336-41.

12.

Ataxia telangiectasia gene mutations in leukaemia and lymphoma.

Boultwood J.

J Clin Pathol. 2001 Jul;54(7):512-6. Review.

13.
14.

Atm-deficient mice Purkinje cells show age-dependent defects in calcium spike bursts and calcium currents.

Chiesa N, Barlow C, Wynshaw-Boris A, Strata P, Tempia F.

Neuroscience. 2000;96(3):575-83.

PMID:
10717437
15.
16.

The toppler mouse: a novel mutant exhibiting loss of Purkinje cells.

Duchala CS, Shick HE, Garcia J, Deweese DM, Sun X, Stewart VJ, Macklin WB.

J Comp Neurol. 2004 Aug 16;476(2):113-29.

PMID:
15248193
17.

H2AX gene does not have a modifier effect on ataxia-telangiectasia phenotype.

Mesci L, Ozdag H, Yel L, Ozgur TT, Tan C, Sanal O.

Int J Immunogenet. 2011 Jun;38(3):209-13. doi: 10.1111/j.1744-313X.2010.00989.x. Epub 2011 Jan 4.

PMID:
21199394
18.

Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells.

Levin SI, Khaliq ZM, Aman TK, Grieco TM, Kearney JA, Raman IM, Meisler MH.

J Neurophysiol. 2006 Aug;96(2):785-93. Epub 2006 May 10.

19.

Ataxia telangiectasia mutated deficiency affects astrocyte growth but not radiosensitivity.

Gosink EC, Chong MJ, McKinnon PJ.

Cancer Res. 1999 Oct 15;59(20):5294-8.

20.

Intranasal administration of IGF-I improves behavior and Purkinje cell pathology in SCA1 mice.

Vig PJ, Subramony SH, D'Souza DR, Wei J, Lopez ME.

Brain Res Bull. 2006 May 15;69(5):573-9. Epub 2006 Mar 24.

PMID:
16647585

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