Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

Molecular cloning: A laboratory manual

Deininger, P. L. (1990) · Analytical Biochemistry · doi:10.1016/0003-2697(90)90595-z · Cited by 84,684

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science · doi:10.1126/science.271.5254.1423 · Cited by 2,786

Greenfield's Neuropathology

Lantos, P. L. (1985) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.48.5.496 · Cited by 1,156

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

Dürr, A., Cossee, M., Agid, Y., Campuzano, V., Mignard, C., Penet, C., Mandel, J.-L., Brice, A., & Koenig, M. (1996) · New England Journal of Medicine · doi:10.1056/nejm199610173351601 · Cited by 1,071

FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURES

Harding, A. E. (1981) · Brain · doi:10.1093/brain/104.3.589 · Cited by 929

Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes

Campuzano, V., Montermini, L., Lutz, Y., Cova, L., Hindelang, C., Jiralerspong, S., Trottier, Y., Kish, S. J., Faucheux, B. A., Trouillas, P., et al. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.11.1771 · Cited by 739

The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins

Kispál, G., Csere, P., Prohl, C., & Lill, R. (1999) · The EMBO Journal · doi:10.1093/emboj/18.14.3981 · Cited by 699

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

Schrank, B., Götz, R., Gunnersen, J. M., Ure, J., Toyka, K. V., Smith, A. G., & Sendtner, M. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.18.9920 · Cited by 661

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

Filla, A., Michele, G. D., Cavalcanti, F., Pianese, L., Monticelli, A., Campanella, G., & Cocozza, S. (1996) · PubMed Central · Cited by 487

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

Koutníková, H., Campuzano, V., Foury, F., Dollé, P., Cazzalini, O., & Koenig, M. (1997) · Nature Genetics · doi:10.1038/ng0897-345 · Cited by 473

Mitochondrial dysfunction in neurons in Friedreich's ataxia

Степанова, А., & Magrané, J. (2019) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2019.103419 · Cited by 27

Molecular Defects in Friedreich’s Ataxia: Convergence of Oxidative Stress and Cytoskeletal Abnormalities

Smith, F. M., & Kosman, D. J. (2020) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2020.569293 · Cited by 27

Mitochondrial disorders

Schapira, A. H. V. (2000) · Current Opinion in Neurology · doi:10.1097/00019052-200010000-00004 · Cited by 27

Friedreich ataxia

Pandolfo, M. (2011) · Handbook of clinical neurology · doi:10.1016/b978-0-444-51892-7.00017-6 · Cited by 26

Friedreich Ataxia

Pandolfo, M. (2012) · Journal of Child Neurology · doi:10.1177/0883073812448534 · Cited by 26

Biochemical Analyses of Human Iron–Sulfur Protein Biogenesis and of Related Diseases

Stehling, O., Paul, V. D., Bergmann, J., Basu, S., & Lill, R. (2017) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/bs.mie.2017.11.004 · Cited by 26

Spinocerebellar ataxias due to mitochondrial defects

Kaplan, J. (2002) · Neurochemistry International · doi:10.1016/s0197-0186(01)00127-9 · Cited by 26

Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function

Iommarini, L., Peralta, S., Torraco, A., & Díaz, F. (2015) · Mitochondrion · doi:10.1016/j.mito.2015.01.008 · Cited by 28

Cardiovascular Research in Friedreich Ataxia

Payne, R. M. (2022) · JACC Basic to Translational Science · doi:10.1016/j.jacbts.2022.04.005 · Cited by 25

Proteomic Study on the Mechanism of Arsenic Neurotoxicity in the Rat Cerebral Cortex and the Protective Mechanism of Dictyophora Polysaccharides against Arsenic Neurotoxicity

Zhang, X., Yang, H., Wang, Y., Zhang, J., Zhang, H., Cao, X., Hu, T., Jing, L., Tang, X., Yan, X., et al. (2023) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.3c00009 · Cited by 24

Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans.

Hebinck, J., Hardt, C., Schöls, L. J., Vorgerd, M., Briedigkeit, L., Kahn, C. R., & Ristow, M. (2000) · Diabetes · doi:10.2337/diabetes.49.9.1604 · Cited by 24

Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia

Lane, D. J. R., Huang, M., Ting, S., Sivagurunathan, S., & Richardson, D. R. (2013) · Biochemical Journal · doi:10.1042/bj20130079 · Cited by 24

Replication-independent instability of Friedreich’s ataxia GAA repeats during chronological aging

Neil, A. J., Hisey, J. A., Quasem, I., McGinty, R. J., Hitczenko, M., Khristich, A. N., & Mirkin, S. M. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2013080118 · Cited by 23

AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives

Hanaford, A. R., Cho, Y., & Nakai, H. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02324-7 · Cited by 25

Genetic Infiltrative Cardiomyopathies

Sweet, M., Mestroni, L., & Taylor, M. R. G. (2018) · Heart Failure Clinics · doi:10.1016/j.hfc.2017.12.003 · Cited by 22

Impact of Drosophila Models in the Study and Treatment of Friedreich’s Ataxia

Monnier, V., Llorens, J. V., & Navarro, J. A. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19071989 · Cited by 23

Pathophysiology of the Optic Neuropathy Associated With Friedreich Ataxia

ALLDREDGE, C. D. (2003) · Archives of Ophthalmology · doi:10.1001/archopht.121.11.1582 · Cited by 23

Bone marrow transplantation stimulates neural repair in Friedreich's ataxia mice

Kemp, K. C., Hares, K. M., Redondo, J., Cook, A. J., Haynes, H. R., Burton, B. R., Pook, M. A., Rice, C. M., Scolding, N. J., & Wilkins, A. (2018) · Annals of Neurology · doi:10.1002/ana.25207 · Cited by 22

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds

Lufino, M. M., Silva, A. M., Nemeth, A. H., Alegre‐Abarrategui, J., Russell, A. J., & Wade‐Martins, R. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt370 · Cited by 24

Iron Pathophysiology in Friedreich’s Ataxia

Li, K. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-9589-5_7 · Cited by 22

Fragile X syndrome and Friedreich’s ataxia: two different paradigms for repeat induced transcript insufficiency

Grabczyk, E., Kumari, D., & Usdin, K. (2001) · Brain Research Bulletin · doi:10.1016/s0361-9230(01)00572-x · Cited by 22

A global perspective on research advances and future challenges in Friedreich ataxia

Indelicato, E., Delatycki, M. B., Farmer, J. M., França, M. C., Perlman, S., Rai, M., & Boesch, S. (2025) · Nature Reviews Neurology · doi:10.1038/s41582-025-01065-y · Cited by 23

Conditional Mouse Models for Friedreich Ataxia, a Neurodegenerative Disorder Associating Cardiomyopathy

Puccio, H. M. (2007) · Springer eBooks · doi:10.1007/978-3-540-35109-2_15 · Cited by 21

Cardiomyopathy of Friedreich’s Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development

Payne, R. M., Pride, P. M., & Babbey, C. M. (2011) · Pediatric Cardiology · doi:10.1007/s00246-011-9943-6 · Cited by 23

Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia

Poburski, D., Boerner, J. B., Koenig, M., Ristow, M., & Thierbach, R. (2016) · Biology Open · doi:10.1242/bio.017004 · Cited by 21

Therapeutic strategies in Friedreich’s ataxia

Schöls, L. J., Meyer, C., Schmid, G., Wilhelms, I., & Przuntek, H. (2004) · Journal of neural transmission. Supplementum · doi:10.1007/978-3-7091-0579-5_16 · Cited by 21

AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich’s ataxia

Chang, J. C., Ryan, M. R., Stark, M. C., Liu, S., Purushothaman, P., Bolan, F., Johnson, C. A., Champe, M., Meng, H., Lawlor, M. W., et al. (2024) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2024.101193 · Cited by 20

Diseases of iron metabolism

Hagar, W., Theil, E. C., & Vichinsky, E. P. (2002) · Pediatric Clinics of North America · doi:10.1016/s0031-3955(02)00028-7 · Cited by 19

Mouse Models of Triplet Repeat Diseases

Bates, G. P., & Gonitel, R. (2006) · Molecular Biotechnology · doi:10.1385/mb:32:2:147 · Cited by 20

C. elegans models of neuromuscular diseases expedite translational research

Sleigh, J. N., & Sattelle, D. B. (2010) · Translational Neuroscience · doi:10.2478/v10134-010-0032-9 · Cited by 19

The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients

Doni, D., Rigoni, G., Palumbo, E., Baschiera, E., Peruzzo, R., Rosa, E. D., Caicci, F., Passerini, L., Bettio, D., Russo, A., et al. (2021) · The FASEB Journal · doi:10.1096/fj.202000524rr · Cited by 19

Friedreich Ataxia: An Update on Animal Models, Frataxin Function and Therapies

González‐Cabo, P., Llorens, J. V., Palau, F., & Moltó, M. D. (2009) · Advances in experimental medicine and biology · doi:10.1007/978-90-481-2813-6_17 · Cited by 19

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen

Calmels, N., Seznec, H., Villa, P., Reutenauer, L., Hibert, M., Haiech, J., Rustin, P., Koenig, M., & Puccio, H. M. (2009) · BMC Neurology · doi:10.1186/1471-2377-9-46 · Cited by 18

Tat-Frataxin protects dopaminergic neuronal cells against MPTP-induced toxicity in a mouse model of Parkinson's disease

Kim, M. J., Kim, D. W., Jeong, H. J., Sohn, E. J., Shin, M. J., Ahn, E. H., Kwon, S. W., Kim, Y. N., Kim, D., Park, J., et al. (2012) · Biochimie · doi:10.1016/j.biochi.2012.07.005 · Cited by 18

Mouse models as a tool for understanding neurodegenerative diseases

Ahmad‐Annuar, A., Tabrizi, S. J., & Fisher, E. (2003) · Current Opinion in Neurology · doi:10.1097/01.wco.0000084221.82329.29 · Cited by 18

A multiple animal and cellular models approach to study frataxin deficiency in Friedreich Ataxia

Mosbach, V., & Puccio, H. M. (2024) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2024.119809 · Cited by 17

Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia

Fil, D., Chacko, B. K., Conley, R. L., Ouyang, X., Zhang, J., Darley-Usmar, V. M., Zuberi, A. R., Lutz, C. M., Напиерала, М., & Napierala, J. S. (2020) · Disease Models & Mechanisms · doi:10.1242/dmm.045229 · Cited by 17

Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia

Greene, E., Handa, V., Kumari, D., & Usdin, K. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072839 · Cited by 15

Mitochondrial disorders

Zeviani, M., & Klopstock, T. (2001) · Current Opinion in Neurology · doi:10.1097/00019052-200110000-00002 · Cited by 15

A new cellular model to follow Friedreich's ataxia development in a time-resolved way

Vannocci, T., Faggianelli, N., Zaccagnino, S., Rosa, I. D., Adinolfi, S., & Pastore, A. (2015) · Disease Models & Mechanisms · doi:10.1242/dmm.020545 · Cited by 14

Modelling biochemical features of mitochondrial neuropathology

Bird, M., Thorburn, D. R., & Frazier, A. E. (2013) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2013.10.017 · Cited by 14

Evaluation of an FRDA–EGFP genomic reporter assay in transgenic mice

Sarsero, J. P., Holloway, T. P., Li, L., McLenachan, S., Fowler, K. J., Bertoncello, I., Voullaire, L. E., Gazeas, S., & Ioannou, P. A. (2005) · Mammalian Genome · doi:10.1007/s00335-004-3021-9 · Cited by 14

Frataxin deficiency and the pathology of Friedreich’s Ataxia across tissues

Ercanbrack, W. S., Ramirez, M., Dungan, A., Gaul, E., Ercanbrack, S. J., & Wingert, R. A. (2025) · Tissue Barriers · doi:10.1080/21688370.2025.2462357 · Cited by 13

Targeting Mitochondrial Metal Dyshomeostasis for the Treatment of Neurodegeneration

Liddell, J. R. (2015) · Neurodegenerative Disease Management · doi:10.2217/nmt.15.19 · Cited by 13

Drosophila melanogasterModels of Friedreich’s Ataxia

Calap-Quintana, P., Navarro, J. A., González-Fernández, J., Martínez-Sebastián, M. J., Moltó, M. D., & Llorens, J. V. (2018) · BioMed Research International · doi:10.1155/2018/5065190 · Cited by 13

Mammalian mitochondrial iron–sulfur cluster biogenesis and transfer and related human diseases

Wenxin, Z., Xu, L., Hongting, Z., & Li, K. (2021) · Biophysics Reports · doi:10.52601/bpr.2021.200038 · Cited by 12

Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin

Fil, D., Conley, R. L., Zuberi, A. R., Lutz, C. M., Gemelli, T., Напиерала, М., & Napierala, J. S. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.105996 · Cited by 12

The role of frataxin in fission yeast iron metabolism: Implications for Friedreich's ataxia

Wang, Y., Wang, Y., Marcus, S., & Busenlehner, L. S. (2014) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2014.06.017 · Cited by 12

Mitochondrial iron metabolism in plants: frataxin comes into play

Murgia, I., Tarantino, D., & Soave, C. (2009) · Plant and Soil · doi:10.1007/s11104-009-0038-6 · Cited by 12

Dissecting the Processes of Aging Using the Nematode Caenorhabditis elegans

Henderson, S. T., Rea, S. L., & Johnson, T. E. (2005) · Elsevier eBooks · doi:10.1016/b978-012088387-5/50016-9 · Cited by 11

Prospects for the Use of Artificial Chromosomes and Minichromosome-Like Episomes in Gene Therapy

Pérez-Luz, S., & Díaz‐Nido, J. (2010) · BioMed Research International · doi:10.1155/2010/642804 · Cited by 13

Progress in understanding Friedreich’s ataxia using human induced pluripotent stem cells

Schreiber, A. M., Misiorek, J. O., Napierala, J. S., & Напиерала, М. (2018) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2019.1562334 · Cited by 13

Synthetic embryology: Early mammalian embryo modeling systems from cell cultures

Tomoda, K., & Kime, C. (2021) · Development Growth & Differentiation · doi:10.1111/dgd.12713 · Cited by 11

NRF2: An emerging role in neural stem cell regulation and neurogenesis

Boorman, E., Killick, R., Aarsland, D., Zunszain, P. A., & Mann, G. E. (2022) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2022.10.301 · Cited by 12

Controlling homology-directed repair outcomes in human stem cells with dCas9Preprint

Skarnes, W. C., Ning, G., Giansiracusa, S., Cruz, A. S., Blauwendraat, C., Saavedra, B., Holden, K., Cookson, M. R., Ward, M. E., & McDonough, J. A. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.12.16.472942 · Cited by 12

Role of Iron Metabolism-Related Genes in Prenatal Development: Insights from Mouse Transgenic Models

Kopeć, Z., Starzyński, R. R., Jończy, A., Mazgaj, R., & Lipiński, P. (2021) · Genes · doi:10.3390/genes12091382 · Cited by 10

A new tool to determine the cellular metabolic landscape: nanotechnology to the study of Friedreich’s ataxia

Vannocci, T., Dinarelli, S., Girasole, M., Pastore, A., & Longo, G. (2019) · Scientific Reports · doi:10.1038/s41598-019-55799-z · Cited by 10

Characterising the Neuropathology and Neurobehavioural Phenotype in Friedreich Ataxia

Corben, L. A., Georgiou‐Karistianis, N., Bradshaw, J. L., Evans‐Galea, M. V., Churchyard, A., & Delatycki, M. B. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-5434-2_11 · Cited by 10

Animal Models of Hereditary Iron Transport Disorders

Andrews, N. C. (2002) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-0593-8_1 · Cited by 10

Frataxin deficiency in Friedreich’s ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival

Tiano, F., Amati, F., Cherubini, F., Morini, E., Vancheri, C., Maletta, S., Fortuni, S., Serio, D., Quatrana, A., Luffarelli, R., et al. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddz306 · Cited by 10

The Cerebellum and the Hereditary Ataxias

Jafar‐Nejad, P., Maricich, S. M., & Zoghbi, H. Y. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-37101-8.00091-6 · Cited by 9

Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich’s ataxia patients

Heidari, M., Houshmand, M., Hosseinkhani, S., Nafissi, S., Scheiber‐Mojdehkar, B., & Khatami, M. (2008) · Neurological Sciences · doi:10.1007/s10072-008-1026-y · Cited by 9

Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy

Crombie, D. E., Pera, M. F., Delatycki, M. B., & Pébay, A. (2016) · International Journal of Cardiology · doi:10.1016/j.ijcard.2016.03.040 · Cited by 10

Animal Models of Myocardial Disease

Breckenridge, R. A. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-415894-8.00007-5 · Cited by 8

Trinucleotide Repeat Protocols

(2013) · Methods in molecular biology · doi:10.1007/978-1-62703-411-1 · Cited by 8

Friedreich's ataxia

Cooper, J. A. D., & Bradley, J. L. (2002) · International review of neurobiology · doi:10.1016/s0074-7742(02)53006-3 · Cited by 8

Impact of mitochondria on nuclear genome stability

Karthikeyan, G., & Resnick, M. A. (2004) · DNA repair · doi:10.1016/j.dnarep.2004.07.004 · Cited by 8

Mitochondrial Disorders

Donato, S. D., Marmolino, D., & Taroni, F. (2012) · Springer eBooks · doi:10.1007/978-94-007-1333-8_102 · Cited by 7

Rescue of the Friedreich Ataxia Knockout Mutation in Transgenic Mice Containing an FXN-EGFP Genomic Reporter

Sarsero, J. P., Holloway, T. P., Li, L., Finkelstein, D. I., & Ioannou, P. A. (2014) · PLoS ONE · doi:10.1371/journal.pone.0093307 · Cited by 7

Treatment of Friedreich's ataxia

Pandolfo, M. (2013) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2013.771578 · Cited by 7

Chronochemistry in neurodegeneration

Pastore, A., & Adinolfi, S. (2014) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2014.00020 · Cited by 7

Inherited Ataxias

Pulst, S.-M. (2003) · Elsevier eBooks · doi:10.1016/b978-012566652-7/50004-6 · Cited by 7

Friedreich Ataxia

Pandolfo, M. (2025) · Neurology Genetics · doi:10.1212/nxg.0000000000200236 · Cited by 6

Sensorimotor skills in Fxn KO/Mck mutants deficient for frataxin in muscle

Filali, M., Lalonde, R., Gérard, C., Coulombe, Z., & Tremblay, J. P. (2015) · Brain Research · doi:10.1016/j.brainres.2015.03.001 · Cited by 6

Iron metabolism in mice with partial frataxin deficiency

Santos, M. M., Miranda, C. J., Levy, J. E., Montross, L. K., Cossée, M., Sequeiros, J., Andrews, N. C., Koenig, M., & Pandolfo, M. (2003) · The Cerebellum · doi:10.1080/14734220309408 · Cited by 6

Evolution and Instability of the GAA Triplet-Repeat Sequence in Friedreich's Ataxia

Biase, I. D., Rasmussen, A., & Bidichandani, S. I. (2006) · Elsevier eBooks · doi:10.1016/b978-012369462-1/50020-x · Cited by 6

Regulation of intracellular iron levels in iron-acceptor and iron-donor cells

Santos, M. M., de Sousa, M. A. B., & Marx, J. J. M. (2000) · Transfusion Science · doi:10.1016/s0955-3886(00)00109-0 · Cited by 6

A modified mouse model of Friedreich’s ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy

Perfitt, T. L., Huichalaf, C. H., Gooch, R. L., Kuperman, A., Ahn, Y., Chen, X., Ullas, S., Hirenallur-Shanthappa, D. K., Zhan, Y., Otis, D., et al. (2023) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.00496.2023 · Cited by 5

PEP-1-Frataxin Significantly Increases Cell Proliferation and Neuroblast Differentiation by Reducing Lipid Peroxidation in the Mouse Dentate Gyrus

Kim, W., Kim, D. W., Shin, B. N., Yoo, D. Y., Nam, S. M., Kim, M. J., Choi, J. H., Yoon, Y. S., Won, M., Choi, S. Y., et al. (2011) · Neurochemical Research · doi:10.1007/s11064-011-0574-3 · Cited by 5

Perspectives on current models of Friedreich’s ataxia

Kelekçi, S., Yıldız, A. B., Sevinç, K., Uğurlu-Çimen, D., & Önder, T. T. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.958398 · Cited by 5

The Hereditary Ataxias

Opal, P., & Zoghbi, H. Y. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00125-7 · Cited by 5

Mutations in mitochondrial ferredoxin FDX2 suppress frataxin deficiency

Meisel, J. D., Joshi, P. R., Spelbring, A. N., Wang, H., Wellner, S. M., Wiesenthal, P. P., Miranda, M., McCoy, J. G., Barondeau, D. P., Ruvkun, G., et al. (2025) · Nature · doi:10.1038/s41586-025-09821-2 · Cited by 6

Loss of filamentous actin, tight junction protein expression, and paracellular barrier integrity in frataxin-deficient human brain microvascular endothelial cells—implications for blood-brain barrier physiology in Friedreich’s ataxia

Smith, F. M., & Kosman, D. J. (2024) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2023.1299201 · Cited by 4

Frataxin is essential for zebrafish embryogenesis and pronephros formation

Ercanbrack, W. S., Dungan, A., Gaul, E., Ramirez, M., DelVecchio, A. J., Grass, C., & Wingert, R. A. (2024) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2024.1496244 · Cited by 4

Human Pluripotent Stem Cells Modeling Neurodegenerative Diseases

Nat, R., Eigentler, A., & Dechant, G. (2013) · InTech eBooks · doi:10.5772/55772 · Cited by 3

What can Drosophila teach us about iron-accumulation neurodegenerative disorders?

Bekenstein, U., & Kadener, S. (2010) · Journal of Neural Transmission · doi:10.1007/s00702-010-0511-7 · Cited by 4

GENETICS OF INHERITED ATAXIAS

Subramony, S. H. (2005) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/01.con.0000293702.31088.0d · Cited by 4

Intraepidermal Nerve Fiber Density in Friedreich’s Ataxia

Indelicato, E., Nachbauer, W., Eigentler, A., Rudzki, D., Wanschitz, J., & Boesch, S. (2018) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nly100 · Cited by 4

Dimorphic frataxin and its gene regulation by sex steroids in hamsters

Ramos, L. (2023) · Molecular Genetics and Genomics · doi:10.1007/s00438-023-02004-6 · Cited by 4

Friedreich's Ataxia and Related DNA Loss-of-Function Disorders

Pandolfo, M., & Depondt, C. (2007) · Elsevier eBooks · doi:10.1016/b978-012369509-3.50020-2 · Cited by 4

Neurological Disorders Associated with Iron Misdistribution: The Therapeutic Potential of Siderophores

Kakhlon, O., Breuer, B., Münnich, A., & Cabantchik, Z. I. (2010) · Humana Press eBooks · doi:10.1007/978-1-60327-514-9_11 · Cited by 4

[Production and application of polyclonal antibody against mouse frataxin].

Hao, S., Xu, F., & Li, K. (2013) · PubMed · Cited by 4

Friedreich Ataxia

Pandolfo, M. (2007) · Springer eBooks · doi:10.1007/3-540-33336-3_4 · Cited by 3

Friedreich ataxia

Pandolfo, M. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19176-3.00041-8 · Cited by 3

Robust behavioral assessment of the inducible Friedreich's ataxia mouse does not show improvement with NRF2 induction

Montgomery, C. B., Salinas, L., Cox, G. P., Adcock, L. E., Chang, T., Figueroa, F., Cortopassi, G. A., & Dedkova, E. N. (2025) · Disease Models & Mechanisms · doi:10.1242/dmm.052128 · Cited by 3

Cellular and Molecular Biology of Iron-Binding Proteins

Kalinowski, D. S., & Richardson, D. R. (2010) · CRC Press eBooks · doi:10.1201/9781420059984-c7 · Cited by 3

Gene Therapy Approaches to Ataxias

Lim, F., & Díaz‐Nido, J. (2009) · Current Gene Therapy · doi:10.2174/156652309787354649 · Cited by 3

Anatomical and functional analysis of the corticospinal tract in an FRDA mouse modelPreprint

Nishiyama, M., Kalambogias, J., Imai, F., Yang, E., Lang, S., de Nooij, J. C., & Yoshida, Y. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.06.28.601178 · Cited by 3

Pharmacokinetics and Pharmacodynamics of Nomlabofusp in Non-clinical Studies of Friedreich’s Ataxia

Toni, F. D., Ragaglia, V., Schecter, D., Miller, A. S., Gonzalez, E. R., Wagner, E. J., Xu, X., Payne, R. M., Mess, J., Baile, M. G., et al. (2025) · The AAPS Journal · doi:10.1208/s12248-025-01093-y · Cited by 2

A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like

Maalej, M., Mkaouar‐Rebai, E., Mnif, M. F., Mezghani, N., Ayed, I. B., Chamkha, I., Abid, M., & Fakhfakh, F. (2013) · Pathologie Biologie · doi:10.1016/j.patbio.2013.07.013 · Cited by 2

Animal Models of Friedreich Ataxia

Pandolfo, M. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-405195-9.00065-2 · Cited by 2

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Puccio, H., Simon, D., Cossée, M., Criqui-Filipe, P., Tiziano, F., Melki, J., Hindelang, C., Matyas, R., Rustin, P., & Koenig, M. (2001) · Nature Genetics · doi:10.1038/84818 · Cited by 738

Iron metabolism in mice with partial frataxin deficiency

Santos, M. M., Miranda, C. J., Levy, J. E., Montross, L. K., Cossée, M., Sequeiros, J., Andrews, N. C., Koenig, M., & Pandolfo, M. (2003) · The Cerebellum · doi:10.1080/14734220309408 · Cited by 6

Frataxin and frataxin deficiency in Friedreich's ataxia

Wilson, R. B. (2003) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(02)00432-x · Cited by 32

The role of frataxin in mitochondrial iron and haem metabolism and the development of iron chelators as potential therapeutic agents for the treatment of Friedreich's ataxia

Becker, E. (2003) · The University of Queensland · doi:10.14264/253537