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Results: 1 to 20 of 177

Similar articles for PubMed (Select 24023969)

1.

Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus.

Al-Mahdawi S, Sandi C, Mouro Pinto R, Pook MA.

PLoS One. 2013 Sep 4;8(9):e74956. doi: 10.1371/journal.pone.0074956. eCollection 2013.

2.

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.

Al-Mahdawi S, Pinto RM, Ismail O, Varshney D, Lymperi S, Sandi C, Trabzuni D, Pook M.

Hum Mol Genet. 2008 Mar 1;17(5):735-46. Epub 2007 Nov 27.

3.

Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription.

De Biase I, Chutake YK, Rindler PM, Bidichandani SI.

PLoS One. 2009 Nov 19;4(11):e7914. doi: 10.1371/journal.pone.0007914.

4.

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.

Castaldo I, Pinelli M, Monticelli A, Acquaviva F, Giacchetti M, Filla A, Sacchetti S, Keller S, Avvedimento VE, Chiariotti L, Cocozza S.

J Med Genet. 2008 Dec;45(12):808-12. doi: 10.1136/jmg.2008.058594. Epub 2008 Aug 12.

PMID:
18697824
5.

Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia.

Chutake YK, Costello WN, Lam C, Bidichandani SI.

J Biol Chem. 2014 May 30;289(22):15194-202. doi: 10.1074/jbc.M114.566414. Epub 2014 Apr 15.

6.

Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.

Chan PK, Torres R, Yandim C, Law PP, Khadayate S, Mauri M, Grosan C, Chapman-Rothe N, Giunti P, Pook M, Festenstein R.

Hum Mol Genet. 2013 Jul 1;22(13):2662-75. doi: 10.1093/hmg/ddt115. Epub 2013 Mar 7.

7.

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.

Al-Mahdawi S, Pinto RM, Varshney D, Lawrence L, Lowrie MB, Hughes S, Webster Z, Blake J, Cooper JM, King R, Pook MA.

Genomics. 2006 Nov;88(5):580-90. Epub 2006 Aug 17.

8.

FXN methylation predicts expression and clinical outcome in Friedreich ataxia.

Evans-Galea MV, Carrodus N, Rowley SM, Corben LA, Tai G, Saffery R, Galati JC, Wong NC, Craig JM, Lynch DR, Regner SR, Brocht AF, Perlman SL, Bushara KO, Gomez CM, Wilmot GR, Li L, Varley E, Delatycki MB, Sarsero JP.

Ann Neurol. 2012 Apr;71(4):487-97. doi: 10.1002/ana.22671.

PMID:
22522441
9.

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.

Lufino MM, Silva AM, Németh AH, Alegre-Abarrategui J, Russell AJ, Wade-Martins R.

Hum Mol Genet. 2013 Dec 20;22(25):5173-87. doi: 10.1093/hmg/ddt370. Epub 2013 Aug 13.

10.

Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.

Greene E, Mahishi L, Entezam A, Kumari D, Usdin K.

Nucleic Acids Res. 2007;35(10):3383-90. Epub 2007 May 3.

11.

Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells.

Du J, Campau E, Soragni E, Ku S, Puckett JW, Dervan PB, Gottesfeld JM.

J Biol Chem. 2012 Aug 24;287(35):29861-72. doi: 10.1074/jbc.M112.391961. Epub 2012 Jul 13.

12.

Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia.

Kim E, Napierala M, Dent SY.

Nucleic Acids Res. 2011 Oct;39(19):8366-77. doi: 10.1093/nar/gkr542. Epub 2011 Jul 10.

13.

Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.

Chutake YK, Lam C, Costello WN, Anderson M, Bidichandani SI.

Ann Neurol. 2014 Oct;76(4):522-8. doi: 10.1002/ana.24249. Epub 2014 Aug 30.

PMID:
25112975
14.

Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.

Li H, Gakh O, Smith DY 4th, Ranatunga WK, Isaya G.

J Biol Chem. 2013 Feb 8;288(6):4116-27. doi: 10.1074/jbc.M112.435263. Epub 2012 Dec 26.

15.

Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia.

Soragni E, Herman D, Dent SY, Gottesfeld JM, Wells RD, Napierala M.

Nucleic Acids Res. 2008 Nov;36(19):6056-65. doi: 10.1093/nar/gkn604. Epub 2008 Sep 27.

16.

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.

Evans-Galea MV, Lockhart PJ, Galea CA, Hannan AJ, Delatycki MB.

Discov Med. 2014 Jan;17(91):25-35. Review.

17.

Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia.

Xia H, Cao Y, Dai X, Marelja Z, Zhou D, Mo R, Al-Mahdawi S, Pook MA, Leimkühler S, Rouault TA, Li K.

PLoS One. 2012;7(10):e47847. doi: 10.1371/journal.pone.0047847. Epub 2012 Oct 17.

18.

Characterising the neuropathology and neurobehavioural phenotype in Friedreich ataxia: a systematic review.

Corben LA, Georgiou-Karistianis N, Bradshaw JL, Evans-Galea MV, Churchyard AJ, Delatycki MB.

Adv Exp Med Biol. 2012;769:169-84. Review.

PMID:
23560311
19.

Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models.

Sandi C, Sandi M, Jassal H, Ezzatizadeh V, Anjomani-Virmouni S, Al-Mahdawi S, Pook MA.

PLoS One. 2014 Feb 21;9(2):e89488. doi: 10.1371/journal.pone.0089488. eCollection 2014.

20.

A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.

Evans-Galea MV, Corben LA, Hasell J, Galea CA, Fahey MC, du Sart D, Delatycki MB.

Neurogenetics. 2011 Nov;12(4):307-13. doi: 10.1007/s10048-011-0296-3. Epub 2011 Aug 10.

PMID:
21830088
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