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Items: 1 to 20 of 540

1.

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.

PMID:
18045775
2.

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.

PMID:
18697824
3.

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.

4.

Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice.

Sarsero JP, Li L, Holloway TP, Voullaire L, Gazeas S, Fowler KJ, Kirby DM, Thorburn DR, Galle A, Cheema S, Koenig M, Williamson R, Ioannou PA.

Mamm Genome. 2004 May;15(5):370-82.

PMID:
15170226
5.

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.

6.

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.

7.

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.

8.

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.

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.

10.

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.

PMID:
17703324
11.

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
12.

Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.

Bidichandani SI, Garcia CA, Patel PI, Dimachkie MM.

Arch Neurol. 2000 Feb;57(2):246-51.

PMID:
10681084
13.

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.

De Castro M, García-Planells J, Monrós E, Cañizares J, Vázquez-Manrique R, Vílchez JJ, Urtasun M, Lucas M, Navarro G, Izquierdo G, Moltó MD, Palau F.

Hum Genet. 2000 Jan;106(1):86-92.

PMID:
10982187
14.

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.

15.

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.

PMID:
23474817
16.

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.

17.

Multicellular models of Friedreich ataxia.

Puccio H.

J Neurol. 2009 Mar;256 Suppl 1:18-24. doi: 10.1007/s00415-009-1004-1. Review.

PMID:
19283346
18.

GAA repeat instability in Friedreich ataxia YAC transgenic mice.

Al-Mahdawi S, Pinto RM, Ruddle P, Carroll C, Webster Z, Pook M.

Genomics. 2004 Aug;84(2):301-10.

PMID:
15233994
19.

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.

20.

New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.

Monticelli A, Giacchetti M, De Biase I, Pianese L, Turano M, Pandolfo M, Cocozza S.

Hum Genet. 2004 Apr;114(5):458-63.

PMID:
14767759

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