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CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA.

Sopher BL, Ladd PD, Pineda VV, Libby RT, Sunkin SM, Hurley JB, Thienes CP, Gaasterland T, Filippova GN, La Spada AR.

Neuron. 2011 Jun 23;70(6):1071-84. doi: 10.1016/j.neuron.2011.05.027.


CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.

Libby RT, Hagerman KA, Pineda VV, Lau R, Cho DH, Baccam SL, Axford MM, Cleary JD, Moore JM, Sopher BL, Tapscott SJ, Filippova GN, Pearson CE, La Spada AR.

PLoS Genet. 2008 Nov;4(11):e1000257. doi: 10.1371/journal.pgen.1000257. Epub 2008 Nov 14.


Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration.

Furrer SA, Mohanachandran MS, Waldherr SM, Chang C, Damian VA, Sopher BL, Garden GA, La Spada AR.

J Neurosci. 2011 Nov 9;31(45):16269-78. doi: 10.1523/JNEUROSCI.4000-11.2011.


Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization.

Chen S, Peng GH, Wang X, Smith AC, Grote SK, Sopher BL, La Spada AR.

Hum Mol Genet. 2004 Jan 1;13(1):53-67. Epub 2003 Nov 12.


Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7.

Furrer SA, Waldherr SM, Mohanachandran MS, Baughn TD, Nguyen KT, Sopher BL, Damian VA, Garden GA, La Spada AR.

Hum Mol Genet. 2013 Mar 1;22(5):890-903. doi: 10.1093/hmg/dds495. Epub 2012 Nov 29.


Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction.

Helmlinger D, Hardy S, Abou-Sleymane G, Eberlin A, Bowman AB, Gansmüller A, Picaud S, Zoghbi HY, Trottier Y, Tora L, Devys D.

PLoS Biol. 2006 Mar;4(3):e67. Epub 2006 Feb 28.


Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration.

Palhan VB, Chen S, Peng GH, Tjernberg A, Gamper AM, Fan Y, Chait BT, La Spada AR, Roeder RG.

Proc Natl Acad Sci U S A. 2005 Jun 14;102(24):8472-7. Epub 2005 Jun 2.


A role for both wild-type and expanded ataxin-7 in transcriptional regulation.

Ström AL, Forsgren L, Holmberg M.

Neurobiol Dis. 2005 Dec;20(3):646-55. Epub 2005 Jun 3.


Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.

La Spada AR, Fu YH, Sopher BL, Libby RT, Wang X, Li LY, Einum DD, Huang J, Possin DE, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, Ptácek LJ, Chen S.

Neuron. 2001 Sep 27;31(6):913-27. Erratum in: Neuron 2001 Dec 6;32(5):957-8.


Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment.

Mookerjee S, Papanikolaou T, Guyenet SJ, Sampath V, Lin A, Vitelli C, DeGiacomo F, Sopher BL, Chen SF, La Spada AR, Ellerby LM.

J Neurosci. 2009 Dec 2;29(48):15134-44. doi: 10.1523/JNEUROSCI.4720-09.2009.


Polyglutamine-expanded ataxin-7 upregulates Bax expression by activating p53 in cerebellar and inferior olivary neurons.

Wang HL, Chou AH, Lin AC, Chen SY, Weng YH, Yeh TH.

Exp Neurol. 2010 Aug;224(2):486-94. doi: 10.1016/j.expneurol.2010.05.011. Epub 2010 May 28.


Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.

Helmlinger D, Hardy S, Sasorith S, Klein F, Robert F, Weber C, Miguet L, Potier N, Van-Dorsselaer A, Wurtz JM, Mandel JL, Tora L, Devys D.

Hum Mol Genet. 2004 Jun 15;13(12):1257-65. Epub 2004 Apr 28.


Noncoding transcripts in sense and antisense orientation regulate the epigenetic state of ribosomal RNA genes.

Bierhoff H, Schmitz K, Maass F, Ye J, Grummt I.

Cold Spring Harb Symp Quant Biol. 2010;75:357-64. doi: 10.1101/sqb.2010.75.060. Epub 2011 Apr 18.


Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice.

Garden GA, Libby RT, Fu YH, Kinoshita Y, Huang J, Possin DE, Smith AC, Martinez RA, Fine GC, Grote SK, Ware CB, Einum DD, Morrison RS, Ptacek LJ, Sopher BL, La Spada AR.

J Neurosci. 2002 Jun 15;22(12):4897-905.


Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7.

Tan JY, Vance KW, Varela MA, Sirey T, Watson LM, Curtis HJ, Marinello M, Alves S, Steinkraus B, Cooper S, Nesterova T, Brockdorff N, Fulga T, Brice A, Sittler A, Oliver PL, Wood MJ, Ponting CP, Marques AC.

Nat Struct Mol Biol. 2014 Nov;21(11):955-961. doi: 10.1038/nsmb.2902. Epub 2014 Oct 12. Erratum in: Nat Struct Mol Biol. 2015 Mar;22(3):272.


Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1.

Mizutani A, Wang L, Rajan H, Vig PJ, Alaynick WA, Thaler JP, Tsai CC.

EMBO J. 2005 Sep 21;24(18):3339-51. Epub 2005 Aug 25.


Expression analysis of ataxin-7 mRNA and protein in human brain: evidence for a widespread distribution and focal protein accumulation.

Lindenberg KS, Yvert G, Müller K, Landwehrmeyer GB.

Brain Pathol. 2000 Jul;10(3):385-94.


Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice.

Chort A, Alves S, Marinello M, Dufresnois B, Dornbierer JG, Tesson C, Latouche M, Baker DP, Barkats M, El Hachimi KH, Ruberg M, Janer A, Stevanin G, Brice A, Sittler A.

Brain. 2013 Jun;136(Pt 6):1732-45. doi: 10.1093/brain/awt061. Epub 2013 Mar 21.


Polyglutamine-expanded ataxin-7 causes cerebellar dysfunction by inducing transcriptional dysregulation.

Chou AH, Chen CY, Chen SY, Chen WJ, Chen YL, Weng YS, Wang HL.

Neurochem Int. 2010 Jan;56(2):329-39. doi: 10.1016/j.neuint.2009.11.003. Epub 2009 Nov 10.


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