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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; 17(5):735-46. PubMed ID: 18045775 [TBL] [Abstract][Full Text] [Related]
3. Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia. Rodden LN; Chutake YK; Gilliam K; Lam C; Soragni E; Hauser L; Gilliam M; Wiley G; Anderson MP; Gottesfeld JM; Lynch DR; Bidichandani SI Hum Mol Genet; 2021 Feb; 29(23):3818-3829. PubMed ID: 33432325 [TBL] [Abstract][Full Text] [Related]
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; 289(22):15194-202. PubMed ID: 24737321 [TBL] [Abstract][Full Text] [Related]
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; 22(25):5173-87. PubMed ID: 23943791 [TBL] [Abstract][Full Text] [Related]
6. 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; 287(35):29861-72. PubMed ID: 22798143 [TBL] [Abstract][Full Text] [Related]
7. Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia. Santoro M; Perna A; La Rosa P; Petrillo S; Piemonte F; Rossi S; Riso V; Nicoletti TF; Modoni A; Pomponi MG; Chiurazzi P; Silvestri G Neurogenetics; 2020 Oct; 21(4):279-287. PubMed ID: 32638185 [TBL] [Abstract][Full Text] [Related]
8. Pitfalls in molecular diagnosis of Friedreich ataxia. Barcia G; Rachid M; Magen M; Assouline Z; Koenig M; Funalot B; Barnerias C; Rötig A; Munnich A; Bonnefont JP; Steffann J Eur J Med Genet; 2018 Aug; 61(8):455-458. PubMed ID: 29530802 [TBL] [Abstract][Full Text] [Related]
9. 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; 8(9):e74956. PubMed ID: 24023969 [TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 18697824 [TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 16919418 [TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 25112975 [TBL] [Abstract][Full Text] [Related]
14. Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think? Aguilera C; Esteve-Garcia A; Casasnovas C; Vélez-Santamaria V; Rausell L; Gargallo P; Garcia-Planells J; Alía P; Llecha N; Padró-Miquel A BMC Med Genomics; 2023 Dec; 16(1):312. PubMed ID: 38041144 [TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 25681319 [TBL] [Abstract][Full Text] [Related]
16. DNA methylation in Friedreich ataxia silences expression of frataxin isoform E. Rodden LN; Gilliam KM; Lam C; Rojsajjakul T; Mesaros C; Dionisi C; Pook M; Pandolfo M; Lynch DR; Blair IA; Bidichandani SI Sci Rep; 2022 Mar; 12(1):5031. PubMed ID: 35322126 [TBL] [Abstract][Full Text] [Related]
17. 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; 22(13):2662-75. PubMed ID: 23474817 [TBL] [Abstract][Full Text] [Related]
18. Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene. Ahmad I; Kapoor H; Srivastava AK; Faruq M Stem Cell Res; 2024 Apr; 76():103340. PubMed ID: 38367363 [TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 22691228 [TBL] [Abstract][Full Text] [Related]
20. Generation and characterization of iPSC lines from Friedreich's ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene's first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A). Ahmad I; Kamai A; Zahra S; Kapoor H; Kumar Srivastava A; Faruq M Stem Cell Res; 2024 Jun; 77():103382. PubMed ID: 38484450 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]