Delivery of the 135 kb human frataxin genomic DNA locus gives rise to different frataxin isoforms

Acquaviva, 2005, Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2, J. Cell Sci., 118, 3917, 10.1242/jcs.02516 Agudo, 2002, Highly efficient and specific gene transfer to Purkinje cells in vivo using a herpes simplex virus I amplicon, Hum. Gene Ther., 13, 665, 10.1089/10430340252837251 Busi, 2012, Exploring frataxin function, IUBMB Life, 64, 56, 10.1002/iub.577 Campuzano, 1997, Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes, Hum. Mol. Genet., 6, 1771, 10.1093/hmg/6.11.1771 Campuzano, 1996, Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion, Science, 271, 1423, 10.1126/science.271.5254.1423 Condo, 2010, Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin, Hum. Mol. Genet., 19, 1221, 10.1093/hmg/ddp592 Condo, 2006, A pool of extramitochondrial frataxin that promotes cell survival, J. Biol. Chem., 281, 16750, 10.1074/jbc.M511960200 Evans-Galea, 2014, Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia, Discov. Med., 17, 25 Evans-Galea, 2014, Cell and gene therapy for Friedreich ataxia: progress to date, Hum. Gene Ther., 25, 684, 10.1089/hum.2013.180 Fleming, 2005, Partial correction of sensitivity to oxidant stress in Friedreich ataxia patient fibroblasts by frataxin-encoding adeno-associated virus and lentivirus vectors, Hum. Gene Ther., 16, 947, 10.1089/hum.2005.16.947 Gakh, 2010, Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron–sulfur cluster assembly, J. Biol. Chem., 285, 38486, 10.1074/jbc.M110.145144 Gimenez-Cassina, 2011, Infectious delivery and long-term persistence of transgene expression in the brain by a 135-kb iBAC-FXN genomic DNA expression vector, Gene Ther., 18, 1015, 10.1038/gt.2011.45 Gomez-Sebastian, 2007, Infectious delivery and expression of a 135kb human FRDA genomic DNA locus complements Friedreich's ataxia deficiency in human cells, Mol. Ther., 15, 248, 10.1038/sj.mt.6300021 Hibbitt, 2011, High capacity extrachromosomal gene expression vectors, Methods Mol. Biol., 738, 19, 10.1007/978-1-61779-099-7_2 Inoue, 2004, Infectious delivery of the 132kb CDKN2A/CDKN2B genomic DNA region results in correctly spliced gene expression and growth suppression in glioma cells, Gene Ther., 11, 1195, 10.1038/sj.gt.3302284 Jerusalinsky, 2012, Herpes simplex virus type 1-based amplicon vectors for fundamental research in neurosciences and gene therapy of neurological diseases, J. Physiol. Paris, 106, 2, 10.1016/j.jphysparis.2011.11.003 Koeppen, 2013, Friedreich ataxia: neuropathology revised, J. Neuropathol. Exp. Neurol., 72, 78, 10.1097/NEN.0b013e31827e5762 Kouprina, 2014, Human artificial chromosome-based gene delivery vectors for biomedicine and biotechnology, Expert Opin. Drug Deliv., 11, 517, 10.1517/17425247.2014.882314 Koutnikova, 1997, Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin, Nat. Genet., 16, 345, 10.1038/ng0897-345 Lim, 2009, Gene therapy approaches to ataxias, Curr. Gene Ther., 9, 1, 10.2174/156652309787354649 Lim, 2007, Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector, Mol. Ther., 15, 1072, 10.1038/sj.mt.6300143 Lu, 2007, Frataxin knockdown causes loss of cytoplasmic iron–sulfur cluster functions, redox alterations and induction of heme transcripts, Arch. Biochem. Biophys., 457, 111, 10.1016/j.abb.2006.09.010 Lynch, 2012, Unanswered questions in Friedreich ataxia, J. Child Neurol., 27, 1223, 10.1177/0883073812453498 Mele, 2015, Human genomics. The human transcriptome across tissues and individuals, Science, 348, 660, 10.1126/science.aaa0355 Navarro, 2011, Overexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levels, PLoS One, 6, e21017, 10.1371/journal.pone.0021017 Oberdoerfer, 2012, Patient-derived olfactory mucosa stem cells as a model for Friedreich's ataxia, FEBS J., 279, 372-372 Pal, 2011, Alternative transcription exceeds alternative splicing in generating the transcriptome diversity of cerebellar development, Genome Res., 21, 1260, 10.1101/gr.120535.111 Palomo, 2011, Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells, Hum. Mol. Genet., 20, 2807, 10.1093/hmg/ddr187 Parkinson, 2013, Clinical features of Friedreich's ataxia: classical and atypical phenotypes, J. Neurochem., 126, 103, 10.1111/jnc.12317 Perdomini, 2014, Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia, Nat. Med., 20, 542, 10.1038/nm.3510 Perez-Luz, 2010, Prospects for the use of artificial chromosomes and minichromosome-like episomes in gene therapy, J. Biomed. Biotechnol., 2010, 10.1155/2010/642804 Peruzzi, 2009, Physiological transgene regulation and functional complementation of a neurological disease gene deficiency in neurons, Mol. Ther., 17, 1517, 10.1038/mt.2009.64 Pianese, 2002, Identification of a novel transcript of X25, the human gene involved in Friedreich ataxia, Neurosci. Lett., 320, 137, 10.1016/S0304-3940(02)00048-4 Pook, 2001, Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis, Neurogenetics, 3, 185, 10.1007/s100480100118 Puspasari, 2011, Long range regulation of human FXN gene expression, PLoS One, 6, e22001, 10.1371/journal.pone.0022001 Saeki, 2001, Improved helper virus-free packaging system for HSV amplicon vectors using an ICP27-deleted, oversized HSV-1 DNA in a bacterial artificial chromosome, Mol. Ther., 3, 591, 10.1006/mthe.2001.0294 Sarsero, 2014, Rescue of the Friedreich ataxia knockout mutation in transgenic mice containing an FXN-EGFP genomic reporter, PLoS One, 9, e93307, 10.1371/journal.pone.0093307 Sarsero, 2004, Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice, Mamm. Genome, 15, 370, 10.1007/s00335-004-3019-3 Taylor, 2014, Region-specific deficits in dopamine, but not norepinephrine, signaling in a novel A30P alpha-synuclein BAC transgenic mouse, Neurobiol. Dis., 62, 193, 10.1016/j.nbd.2013.10.005 Vaubel, 2013, Iron-sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia, Mol. Cell. Neurosci., 55, 50, 10.1016/j.mcn.2012.08.003 Wade-Martins, 2003, Infectious delivery of a 135-kb LDLR genomic locus leads to regulated complementation of low-density lipoprotein receptor deficiency in human cells, Mol. Ther., 7, 604, 10.1016/S1525-0016(03)00060-1 Wade-Martins, 2001, An infectious transfer and expression system for genomic DNA loci in human and mouse cells, Nat. Biotechnol., 19, 1067, 10.1038/nbt1101-1067 Wang, 2014, The role of frataxin in fission yeast iron metabolism: implications for Friedreich's ataxia, Biochim. Biophys. Acta, 1840, 3022, 10.1016/j.bbagen.2014.06.017 Xia, 2012, Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia, PLoS One, 7, e47847, 10.1371/journal.pone.0047847 Yandim, 2013, Gene regulation and epigenetics in Friedreich's ataxia, J. Neurochem., 126, 21, 10.1111/jnc.12254