Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 149

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.

PMID:
18045775
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.

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.

5.

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
6.

Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.

Anjomani Virmouni S, Sandi C, Al-Mahdawi S, Pook MA.

PLoS One. 2014 Sep 8;9(9):e107416. doi: 10.1371/journal.pone.0107416. eCollection 2014.

7.

FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.

Chutake YK, Costello WN, Lam CC, Parikh AC, Hughes TT, Michalopulos MG, Pook MA, Bidichandani SI.

PLoS One. 2015 Sep 22;10(9):e0138437. doi: 10.1371/journal.pone.0138437. eCollection 2015.

8.

Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming.

Polak U, Li Y, Butler JS, Napierala M.

Stem Cells Dev. 2016 Dec 1;25(23):1788-1800. Epub 2016 Oct 17.

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.

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.

PMID:
23474817
11.

A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.

Anjomani Virmouni S, Ezzatizadeh V, Sandi C, Sandi M, Al-Mahdawi S, Chutake Y, Pook MA.

Dis Model Mech. 2015 Mar;8(3):225-35. doi: 10.1242/dmm.018952. Epub 2015 Feb 13.

12.

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.

13.

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.

14.

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
15.

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.

16.

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.

17.

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.

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

PLoS One. 2014 Jun 27;9(6):e100523. doi: 10.1371/journal.pone.0100523. eCollection 2014.

18.

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.

19.

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.

20.

Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.

Li Y, Lu Y, Polak U, Lin K, Shen J, Farmer J, Seyer L, Bhalla AD, Rozwadowska N, Lynch DR, Butler JS, Napierala M.

Hum Mol Genet. 2015 Dec 15;24(24):6932-43. doi: 10.1093/hmg/ddv397. Epub 2015 Sep 23.

Supplemental Content

Support Center