Pandolfo M. Friedreich ataxia. In: PJ Vinken and GW Bruyn, editors. Handbook of clinical neurology. 2012;103:275–94.
Vankan P. Prevalence gradients of Friedreich’s ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge. J Neurochem. 2013;126:11–20.
Article CAS PubMed Google Scholar
Pandolfo M. Friedreich ataxia: new pathways. J Child Neurol. 2012;27:1204–11.
Article PubMed PubMed Central Google Scholar
Tsou AY, Paulsen EK, Lagedrost SJ, Perlman SL, Mathews KD, Wilmot GR, et al. Mortality in Friedreich ataxia. J Neurol Sci. 2011;307:46–9.
Pandolfo M. Friedreich ataxia: the clinical picture. J Neurol. 2009;256:3–8.
Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, et al. Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. Ann Neurol. 2016;79:485–95.
Article CAS PubMed Google Scholar
Soragni E, Herman D, Dent SY, Gottesfeld JM, Wells RD, Napierala M. Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia. Nucleic Acids Res. 2008;36:6056–65.
Article CAS PubMed PubMed Central Google Scholar
Anzovino A, Lane DJ, Huang ML, Richardson DR. Fixing frataxin: ‘ironing out’ the metabolic defect in Friedreich’s ataxia. Br J Pharmacol. 2014;171:2174–90.
Article CAS PubMed PubMed Central Google Scholar
Lill R. Function and biogenesis of iron-sulphur proteins. Nature. 2009;460:831–8.
Article CAS PubMed Google Scholar
Perdomini M, Hick A, Puccio H, Pook MA. Animal and cellular models of Friedreich ataxia. J Neurochem. 2013;126:65–79.
Article CAS PubMed Google Scholar
Anjomani Virmouni S, Ezzatizadeh V, Sandi C, Sandi M, Al-Mahdawi S, Chutake Y, et al. A novel GAA-repeat-expansion-based mouse model of Friedreich’s ataxia. Dis Model Mech. 2015;8:225–35.
PubMed PubMed Central Google Scholar
Ocana-Santero G, Diaz-Nido J, Herranz-Martin S. Future prospects of gene therapy for Friedreich’s ataxia. Int J Mol Sci. 2021;22:1815.
Article CAS PubMed PubMed Central Google Scholar
Gerard C, Archambault AF, Bouchard C, Tremblay JP. A promising mouse model for Friedreich ataxia progressing like human patients. Behav Brain Res. 2022;436:114107.
Ouellet DL, Cherif K, Rousseau J, Tremblay JP. Deletion of the GAA repeats from the human frataxin gene using the CRISPR-Cas9 system in YG8R-derived cells and mouse models of Friedreich ataxia. Gene Ther. 2017;24:265–74.
Article CAS PubMed Google Scholar
Kotterman MA, Schaffer DV. Engineering adeno-associated viruses for clinical gene therapy. Nat Rev Genet. 2014;15:445–51.
Article CAS PubMed PubMed Central Google Scholar
He X, Urip BA, Zhang Z, Ngan CC, Feng B. Evolving AAV-delivered therapeutics towards ultimate cures. J Mol Med (Berl). 2021;99:593–617.
Kim E, Koo T, Park SW, Kim D, Kim K, Cho HY, et al. In vivo genome editing with a small Cas9 orthologue derived from Campylobacter jejuni. Nat commun. 2017;8:14500.
Article CAS PubMed PubMed Central Google Scholar
Hsu PD, Scott DA, Weinstein JA, Ran FA, Konermann S, Agarwala V, et al. DNA targeting specificity of RNA-guided Cas9 nucleases. Nat Biotechnol. 2013;31:827–32.
Article CAS PubMed PubMed Central Google Scholar
Ding X, Seebeck T, Feng Y, Jiang Y, Davis GD, Chen F. Improving CRISPR-Cas9 genome editing efficiency by fusion with chromatin-modulating peptides. CRISPR J. 2019;2:51–63.
Article CAS PubMed Google Scholar
Brinkman EK, Chen T, Amendola M, van Steensel B. Easy quantitative assessment of genome editing by sequence trace decomposition. Nucleic Acids Res. 2014;42:e168.
Article PubMed PubMed Central Google Scholar
Mazzara PG, Muggeo S, Luoni M, Massimino L, Zaghi M, Valverde PT, et al. Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons. Nat Commun. 2020;11:4178.
Article PubMed PubMed Central Google Scholar
Li Y, Polak U, Bhalla AD, Rozwadowska N, Butler JS, Lynch DR, et al. Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich’s Ataxia. Mol Ther. 2015;23:1055–65.
Article CAS PubMed PubMed Central Google Scholar
Li J, Rozwadowska N, Clark A, Fil D, Napierala JS, Napierala M. Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich’s ataxia cardiomyocytes. Stem Cell Res. 2019;40:101529.
Article CAS PubMed PubMed Central Google Scholar
Li Y, Li J, Wang J, Zhang S, Giles K, Prakash TP, et al. Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich’s ataxia. Hum Mol Genet. 2022;31:3539–57.
Article PubMed PubMed Central Google Scholar
Sivakumar A, Cherqui S. Advantages and limitations of gene therapy and gene editing for Friedreich’s ataxia. Front Genome Ed. 2022;4:903139.
Article PubMed PubMed Central Google Scholar
Rocca CJ, Rainaldi JN, Sharma J, Shi Y, Haquang JH, Luebeck J, et al. CRISPR-Cas9 gene editing of hematopoietic stem cells from patients with Friedreich’s ataxia. Mol Ther Methods Clin Dev. 2020;17:1026–36.
Article CAS PubMed PubMed Central Google Scholar
Belbellaa B, Reutenauer L, Monassier L, Puccio H. Correction of half the cardiomyocytes fully rescue Friedreich ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms. Hum Mol Genet. 2019;28:1274–85.
Article CAS PubMed Google Scholar
Belbellaa B, Reutenauer L, Messaddeq N, Monassier L, Puccio H. High levels of Frataxin overexpression lead to mitochondrial and cardiac toxicity in mouse models. Mol Ther Methods Clin Dev. 2020;19:120–38.
Article CAS PubMed PubMed Central Google Scholar
Li L, Matsui M, Corey DR. Activating frataxin expression by repeat-targeted nucleic acids. Nat commun. 2016;7:10606.
Article CAS PubMed PubMed Central Google Scholar
Greene E, Mahishi L, Entezam A, Kumari D, Usdin K. Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res. 2007;35:3383–90.
Article CAS PubMed PubMed Central Google Scholar
Li K, Singh A, Crooks DR, Dai X, Cong Z, Pan L, et al. Expression of human frataxin is regulated by transcription factors SRF and TFAP2. PLoS One. 2010;5:e12286.
Article PubMed PubMed Central Google Scholar
Yameogo P, Duchene BL, Majeau N, Tremblay JP. CRISPR-SCReT (CRISPR-Stop Codon Read Through) method to control Cas9 expression for gene editing. Gene Ther. 2022;29:171–7.
Yamada M, Watanabe Y, Gootenberg JS, Hirano H, Ran FA, Nakane T, et al. Crystal structure of the minimal Cas9 from campylobacter jejuni reveals the molecular diversity in the CRISPR-Cas9 Systems. Mol Cell. 2017;65:1109–21.
Article CAS PubMed Google Scholar
Silva-Pinheiro P, Cerutti R, Luna-Sanchez M, Zeviani M, Viscomi C. A single intravenous injection of AAV-PHP.B-hNDUFS4 ameliorates the phenotype of Ndufs4 (−/−) Mice. Mol Ther Methods Clin Dev. 2020;17:1071–8.
Article CAS PubMed PubMed Central Google Scholar
Chapdelaine P, Gerard C, Sanchez N, Cherif K, Rousseau J, Ouellet DL, et al. Development of an AAV9 coding for a 3XFLAG-TALEfrat#8-VP64 able to increase in vivo the human frataxin in YG8R mice. Gene Ther. 2016;23:606–14.
Article CAS PubMed PubMed Central Google Scholar
Tabebordbar M, Lagerborg KA, Stanton A, King EM, Ye S, Tellez L, et al. Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species. Cell. 2021;184:4919–38.
Article CAS PubMed PubMed Central Google Scholar
Rocca CJ, Goodman SM, Dulin JN, Haquang JH, Gertsman I, Blondelle J, et al. Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich’s ataxia. Sci Transl Med. 2017;9:eaaj2347.
留言 (0)