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miR-886-3p levels are elevated in Friedreich ataxia.

Mahishi LH, Hart RP, Lynch DR, Ratan RR.

J Neurosci. 2012 Jul 4;32(27):9369-73. doi: 10.1523/JNEUROSCI.0059-12.2012.


A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.

Kelly M, Bagnall RD, Peverill RE, Donelan L, Corben L, Delatycki MB, Semsarian C.

J Mol Cell Cardiol. 2011 Nov;51(5):848-54. doi: 10.1016/j.yjmcc.2011.07.001. Epub 2011 Jul 12.


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.


Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.

Bandiera S, Cartault F, Jannot AS, Hatem E, Girard M, Rifai L, Loiseau C, Munnich A, Lyonnet S, Henrion-Caude A.

PLoS One. 2013;8(1):e54791. doi: 10.1371/journal.pone.0054791. Epub 2013 Jan 30.


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.


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.


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.


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.


Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation.

Punga T, Bühler M.

EMBO Mol Med. 2010 Apr;2(4):120-9. doi: 10.1002/emmm.201000064.


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.


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.


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.


Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.

Pianese L, Turano M, Lo Casale MS, De Biase I, Giacchetti M, Monticelli A, Criscuolo C, Filla A, Cocozza S.

J Neurol Neurosurg Psychiatry. 2004 Jul;75(7):1061-3.


Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life.

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

Genomics. 2007 Jul;90(1):1-5. Epub 2007 May 10.


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.


Small molecules affecting transcription in Friedreich ataxia.

Gottesfeld JM.

Pharmacol Ther. 2007 Nov;116(2):236-48. Epub 2007 Aug 9. Review.


Frataxin gene point mutations in Italian Friedreich ataxia patients.

Gellera C, Castellotti B, Mariotti C, Mineri R, Seveso V, Didonato S, Taroni F.

Neurogenetics. 2007 Nov;8(4):289-99. Epub 2007 Aug 17.


Expression of human frataxin is regulated by transcription factors SRF and TFAP2.

Li K, Singh A, Crooks DR, Dai X, Cong Z, Pan L, Ha D, Rouault TA.

PLoS One. 2010 Aug 20;5(8):e12286. doi: 10.1371/journal.pone.0012286.


Milestones in Friedreich ataxia: more than a century and still learning.

Abrahão A, Pedroso JL, Braga-Neto P, Bor-Seng-Shu E, de Carvalho Aguiar P, Barsottini OG.

Neurogenetics. 2015 Jul;16(3):151-60. doi: 10.1007/s10048-015-0439-z. Epub 2015 Feb 8. Review.


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.


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