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Items: 1 to 20 of 148

1.

Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability.

Ku S, Soragni E, Campau E, Thomas EA, Altun G, Laurent LC, Loring JF, Napierala M, Gottesfeld JM.

Cell Stem Cell. 2010 Nov 5;7(5):631-7. doi: 10.1016/j.stem.2010.09.014.

2.

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.

3.

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.

4.

Friedreich's ataxia--a case of aberrant transcription termination?

Butler JS, Napierala M.

Transcription. 2015;6(2):33-6. doi: 10.1080/21541264.2015.1026538. Epub 2015 Apr 1.

5.

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.

6.

Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.

Hick A, Wattenhofer-Donzé M, Chintawar S, Tropel P, Simard JP, Vaucamps N, Gall D, Lambot L, André C, Reutenauer L, Rai M, Teletin M, Messaddeq N, Schiffmann SN, Viville S, Pearson CE, Pandolfo M, Puccio H.

Dis Model Mech. 2013 May;6(3):608-21. doi: 10.1242/dmm.010900. Epub 2012 Nov 7.

7.

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
8.

Complete FXN deletion in a patient with Friedreich's ataxia.

van den Ouweland AM, van Minkelen R, Bolman GM, Wouters CH, Becht-Noordermeer C, Deelen WH, Deelen-Manders JM, Ippel EP, Saris J, Halley DJ.

Genet Test Mol Biomarkers. 2012 Sep;16(9):1015-8. doi: 10.1089/gtmb.2012.0012. Epub 2012 Jun 12.

PMID:
22691228
9.

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.

10.

Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies.

Bayot A, Reichman S, Lebon S, Csaba Z, Aubry L, Sterkers G, Husson I, Rak M, Rustin P.

Hum Mol Genet. 2013 Jul 15;22(14):2894-904. doi: 10.1093/hmg/ddt144. Epub 2013 Apr 2.

PMID:
23552101
11.

A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like.

Maalej M, Mkaouar-Rebai E, Mnif M, Mezghani N, Ben Ayed I, Chamkha I, Abid M, Fakhfakh F.

Pathol Biol (Paris). 2014 Feb;62(1):41-8. doi: 10.1016/j.patbio.2013.07.013. Epub 2013 Sep 4.

PMID:
24011957
12.

Friedreich's Ataxia: from the (GAA)n repeat mediated silencing to new promising molecules for therapy.

Marmolino D, Acquaviva F.

Cerebellum. 2009 Sep;8(3):245-59. doi: 10.1007/s12311-008-0084-2. Epub 2009 Jan 23. Review.

PMID:
19165552
13.

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.

14.

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.

PMID:
27615158
15.

The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.

Bit-Avragim N, Perrot A, Schöls L, Hardt C, Kreuz FR, Zühlke C, Bubel S, Laccone F, Vogel HP, Dietz R, Osterziel KJ.

J Mol Med (Berl). 2001;78(11):626-32.

PMID:
11269509
16.

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.

17.

Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.

De Biase I, Rasmussen A, Endres D, Al-Mahdawi S, Monticelli A, Cocozza S, Pook M, Bidichandani SI.

Ann Neurol. 2007 Jan;61(1):55-60.

PMID:
17262846
18.

Friedreich's ataxia, frataxin, PIP5K1B: echo of a distant fracas.

Bayot A, Rustin P.

Oxid Med Cell Longev. 2013;2013:725635. doi: 10.1155/2013/725635. Epub 2013 Sep 30. Review.

19.

Generation of induced pluripotent stem cell lines from Friedreich ataxia patients.

Liu J, Verma PJ, Evans-Galea MV, Delatycki MB, Michalska A, Leung J, Crombie D, Sarsero JP, Williamson R, Dottori M, Pébay A.

Stem Cell Rev. 2011 Sep;7(3):703-13. doi: 10.1007/s12015-010-9210-x.

PMID:
21181307
20.

Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells.

Lee YK, Ho PW, Schick R, Lau YM, Lai WH, Zhou T, Li Y, Ng KM, Ho SL, Esteban MA, Binah O, Tse HF, Siu CW.

Pflugers Arch. 2014 Sep;466(9):1831-44. doi: 10.1007/s00424-013-1414-x. Epub 2013 Dec 11.

PMID:
24327207

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