FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURES, Brain, vol.104, issue.3, pp.589-620, 1981. ,
DOI : 10.1093/brain/104.3.589
Neurological, Cardiological, and Oculomotor Progression in 104 Patients With Friedreich Ataxia During Long-term Follow-up, Archives of Neurology, vol.64, issue.4, pp.558-564, 2007. ,
DOI : 10.1001/archneur.64.4.558
URL : https://hal.archives-ouvertes.fr/hal-00166262
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion, Science, vol.271, issue.5254, pp.1423-1427, 1996. ,
DOI : 10.1126/science.271.5254.1423
The pathogenesis of Friedreich ataxia and the structure and function of frataxin, Journal of Neurology, vol.277, issue.S1, pp.9-17, 2009. ,
DOI : 10.1007/s00415-009-1003-2
Aconitase and mitochondrial iron???sulphur protein deficiency in Friedreich ataxia, Nature Genetics, vol.12, issue.2, pp.215-217, 1997. ,
DOI : 10.1016/0009-8981(94)90055-8
Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia, Human Molecular Genetics, vol.9, issue.2, pp.275-282, 2000. ,
DOI : 10.1093/hmg/9.2.275
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits, Nature Genetics, vol.27, issue.2, pp.181-186, 2001. ,
DOI : 10.1038/84818
Frataxin is essential for extramitochondrial Fe S cluster proteins in mammalian tissues, Human Molecular Genetics, vol.16, issue.22, 2007. ,
DOI : 10.1093/hmg/ddm163
URL : https://hal.archives-ouvertes.fr/hal-00187819
Friedreich ataxia: the oxidative stress paradox, Human Molecular Genetics, vol.14, issue.4, pp.463-474, 2005. ,
DOI : 10.1093/hmg/ddi042
URL : https://hal.archives-ouvertes.fr/hal-00187760
Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS, Nature Structural & Molecular Biology, vol.5, issue.4, pp.390-396, 2009. ,
DOI : 10.1038/nsmb.1579
Sticky DNA, a Self-associated Complex Formed at Long GAA{middle dot}TTC Repeats in Intron 1 of the Frataxin Gene, Inhibits Transcription, Journal of Biological Chemistry, vol.276, issue.29, pp.27171-27177, 2001. ,
DOI : 10.1074/jbc.M101879200
DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing, Nature, vol.422, issue.6934, pp.909-913, 2003. ,
DOI : 10.1038/nature01596
Deficiency of Arabidopsis thaliana frataxin alters activity of mitochondrial Fe-S proteins and induces oxidative stress, The Plant Journal, vol.15, issue.6, pp.873-882, 2006. ,
DOI : 10.1111/j.1365-313X.2006.02923.x
URL : https://hal.archives-ouvertes.fr/hal-00166169
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation, Human Molecular Genetics, vol.9, issue.8, pp.1219-1226, 2000. ,
DOI : 10.1093/hmg/9.8.1219
Long-lived C. elegans Mitochondrial mutants as a model for human mitochondrial-associated diseases, Experimental Gerontology, vol.41, issue.10, pp.974-991, 2006. ,
DOI : 10.1016/j.exger.2006.06.060
RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila, Human Molecular Genetics, vol.14, issue.22, pp.3397-3405, 2005. ,
DOI : 10.1093/hmg/ddi367
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia, The FASEB Journal, vol.21, issue.2, pp.333-344, 2007. ,
DOI : 10.1096/fj.05-5709com
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes, Annals of Neurology, vol.19, issue.2, pp.200-206, 1999. ,
DOI : 10.1002/1531-8249(199902)45:2<200::AID-ANA10>3.0.CO;2-U
Frataxin gene point mutations in Italian Friedreich ataxia patients, Neurogenetics, vol.16, issue.4, pp.289-299, 2007. ,
DOI : 10.1007/s10048-007-0101-5
Crystal Structure of Human Frataxin, Journal of Biological Chemistry, vol.275, issue.40, pp.30753-30756, 2000. ,
DOI : 10.1074/jbc.C000407200
Towards a structural understanding of Friedreich???s ataxia: the solution structure of frataxin, Structure, vol.8, issue.7, pp.695-707, 2000. ,
DOI : 10.1016/S0969-2126(00)00158-1
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia, Am J Hum Genet, vol.59, pp.554-560, 1996. ,
Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA tripletrepeat expansion, Am J Hum Genet, vol.60, pp.1251-1256, 1997. ,
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene, neurogenetics, vol.1, issue.4, pp.253-257, 1998. ,
DOI : 10.1007/s100480050037
Intrafamilial Phenotypic Variability in Friedreich Ataxia Associated With a G130V Mutation in the FRDA Gene, Archives of Neurology, vol.59, issue.2, pp.296-300, 2002. ,
DOI : 10.1001/archneur.59.2.296
Frataxin knockdown causes loss of cytoplasmic iron???sulfur cluster functions, redox alterations and induction of heme transcripts, Archives of Biochemistry and Biophysics, vol.457, issue.1, pp.111-122, 2007. ,
DOI : 10.1016/j.abb.2006.09.010
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells, Human Molecular Genetics, vol.14, issue.24, pp.3787-3799, 2005. ,
DOI : 10.1093/hmg/ddi393
URL : https://hal.archives-ouvertes.fr/hal-00187745
Iron-sulfur protein maturation in human cells: evidence for a function of frataxin, Human Molecular Genetics, vol.13, issue.23, pp.3007-3015, 2004. ,
DOI : 10.1093/hmg/ddh324
Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells, Human Molecular Genetics, vol.12, issue.14, pp.1699-1711, 2003. ,
DOI : 10.1093/hmg/ddg187
The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol.1782, issue.2, pp.90-98, 2008. ,
DOI : 10.1016/j.bbadis.2007.11.006
URL : https://hal.archives-ouvertes.fr/hal-00501557
Human DNA Glycosylases Involved in the Repair of Oxidatively Damaged DNA, Biological & Pharmaceutical Bulletin, vol.27, issue.4, pp.480-485, 2004. ,
DOI : 10.1248/bpb.27.480
Avian glutamine phosphoribosylpyrophosphate amidotransferase propeptide processing and activity are dependent upon essential cysteine residues, J Biol Chem, vol.267, pp.7936-7942, 1992. ,
Multicellular models of Friedreich ataxia, Journal of Neurology, vol.6, issue.S1, pp.18-24, 2009. ,
DOI : 10.1007/s00415-009-1004-1
URL : https://hal.archives-ouvertes.fr/inserm-00384533
Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis, Neurogenetics, vol.3, pp.185-193, 2001. ,
Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice, Mammalian Genome, vol.15, issue.5, pp.370-382, 2004. ,
DOI : 10.1007/s00335-004-3019-3
Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia, Journal of Neuroscience, vol.24, issue.8, pp.1987-1995, 2004. ,
DOI : 10.1523/JNEUROSCI.4549-03.2004
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia, Human Molecular Genetics, vol.10, issue.19, pp.2061-2067, 2001. ,
DOI : 10.1093/hmg/10.19.2061
Increased IRP1 activity in Friedreich ataxia, Gene, vol.354, pp.157-161, 2005. ,
DOI : 10.1016/j.gene.2005.04.040
Impaired Nuclear Nrf2 Translocation Undermines the Oxidative Stress Response in Friedreich Ataxia, PLoS ONE, vol.228, issue.1, p.4253, 2009. ,
DOI : 10.1371/journal.pone.0004253.s003
Friedreich's Ataxia, No Changes in Mitochondrial Labile Iron in Human Lymphoblasts and Fibroblasts: A DECREASE IN ANTIOXIDATIVE CAPACITY?, Journal of Biological Chemistry, vol.280, issue.8, pp.6701-6708, 2005. ,
DOI : 10.1074/jbc.M408717200
Frataxin expression rescues mitochondrial dysfunctions in FRDA cells, Human Molecular Genetics, vol.10, issue.19, pp.2099-2107, 2001. ,
DOI : 10.1093/hmg/10.19.2099
A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy, Human Molecular Genetics, vol.11, issue.24, pp.3055-3063, 2002. ,
DOI : 10.1093/hmg/11.24.3055
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis, Human Molecular Genetics, vol.8, issue.3, pp.425-430, 1999. ,
DOI : 10.1093/hmg/8.3.425
Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia, Proceedings of the National Academy of Sciences, vol.105, issue.2, pp.611-616, 2008. ,
DOI : 10.1073/pnas.0709691105
Dynamics, stability and iron-binding activity of frataxin clinical mutants, FEBS Journal, vol.279, issue.14, pp.3680-3690, 2008. ,
DOI : 10.1111/j.1742-4658.2008.06512.x
Conformational stability of human frataxin and effect of Friedreich's ataxia-related mutations on protein folding, Biochemical Journal, vol.398, issue.3, pp.605-611, 2006. ,
DOI : 10.1042/BJ20060345
URL : https://hal.archives-ouvertes.fr/hal-00478547
An iron-sulfur domain of the eukaryotic primase is essential for RNA primer synthesis, Nature Structural & Molecular Biology, vol.261, issue.9, pp.875-877, 2007. ,
DOI : 10.1021/bi00063a014
The Essential Vertebrate ABCE1 Protein Interacts with Eukaryotic Initiation Factors, Journal of Biological Chemistry, vol.281, issue.11, pp.7452-7457, 2006. ,
DOI : 10.1074/jbc.M510603200
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase, Human Molecular Genetics, vol.7, issue.9, pp.1485-1489, 1998. ,
DOI : 10.1093/hmg/7.9.1485
Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes, Human Molecular Genetics, vol.6, issue.11, pp.1771-1780, 1997. ,
DOI : 10.1093/hmg/6.11.1771
Analysis of Gene-Specific DNA Damage and Repair Using Quantitative Polymerase Chain Reaction, Methods, vol.22, issue.2, pp.135-147, 2000. ,
DOI : 10.1006/meth.2000.1054
The in vivo mitochondrial two-step maturation of human frataxin, Human Molecular Genetics, vol.17, issue.22, 2008. ,
DOI : 10.1093/hmg/ddn244
URL : https://hal.archives-ouvertes.fr/inserm-00350838
Culture of animal cells: a manual of basic technique, 2000. ,
DOI : 10.1002/9780471747598
Control of Transferrin Receptor Expression via Nitric Oxide-mediated Modulation of Iron-regulatory Protein 2, Journal of Biological Chemistry, vol.274, issue.46, pp.33035-33042, 1999. ,
DOI : 10.1074/jbc.274.46.33035
The role of enzyme variants, polymorphisms and enzyme hybrids in enzyme deficiency conditions, Acta Biol Med Ger, vol.40, pp.537-541, 1981. ,
Characterization of the selenium-substituted 2[4Fe-4Se] ferredoxin from Clostridium pasteurianum, Biochemistry, vol.21, issue.19, pp.4762-4771, 1982. ,
DOI : 10.1021/bi00262a037