Frataxin knockin mouse

Three-dimensional tracking of axonal projections in the brain by magnetic resonance imaging

Mori, S., Crain, B. J., Chacko, V. P., & van Zijl, P. C. M. (1999) · Annals of Neurology · doi:10.1002/1531-8249(199902)45:2 · Cited by 3,479 · see citing works

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 · see citing works

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 · see citing works

CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

Harding, A. E. B. (1983) · The Lancet · doi:10.1016/s0140-6736(83)92879-9 · Cited by 970 · see citing works

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 · see citing works

Regulation of Mitochondrial Iron Accumulation by Yfh1p, a Putative Homolog of Frataxin

Babcock, M., de Silva, D., Oaks, R., Davis-Kaplan, S., Jiralerspong, S., Montermini, L., Pandolfo, M., & Kaplan, J. (1997) · Science · doi:10.1126/science.276.5319.1709 · Cited by 921 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

The GAA Triplet-Repeat Expansion in Friedreich Ataxia Interferes with Transcription and May Be Associated with an Unusual DNA Structure

Bidichandani, S. I., Ashizawa, T., & Patel, P. I. (1998) · The American Journal of Human Genetics · doi:10.1086/301680 · Cited by 381 · see citing works

Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia

Geoffroy, G., Barbeau, A., Breton, G., Lemieux, B., Aubé, M., Leger, C., & Bouchard, J. (1976) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s0317167100025464 · Cited by 379 · see citing works

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

Cossee, M. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.8.1219 · Cited by 377 · see citing works

Friedreich ataxia: an overview

Delatycki, M. B., Williamson, R., & Forrest, S. M. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.1.1 · Cited by 358 · see citing works

“TENNIS THUMB”

Oldfield, M. (1951) · The Lancet · doi:10.1016/s0140-6736(51)92659-1 · Cited by 345 · see citing works

Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: Founder effect and premutations

Cossée, M., Schmitt, M., Campuzano, V., Reutenauer, L., Moutou, C., Mandel, J., & Koenig, M. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.14.7452 · Cited by 330 · see citing works

Sticky DNA

Sakamoto, N., Chastain, P. D., Parniewski, P., Ohshima, K., Pandolfo, M., Griffith, J. D., & Wells, R. D. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80474-8 · Cited by 313 · see citing works

Inhibitory Effects of Expanded GAA·TTC Triplet Repeats from Intron I of the Friedreich Ataxia Gene on Transcription and Replicationin Vivo

Ohshima, K., Montermini, L., Wells, R. D., & Pandolfo, M. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.23.14588 · Cited by 302 · see citing works

The Yeast Frataxin Homologue Mediates Mitochondrial Iron Efflux

Radisky, D. C., Babcock, M. C., & Kaplan, J. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.8.4497 · Cited by 277 · see citing works

Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

Montermini, L., Richeter, A., Morgan, K. W., Justice, C. M., Julien, D., Castellotti, B., Mercier, J., Poirier, J., Capozzoli, F., Bouchard, J., et al. (1997) · Annals of Neurology · doi:10.1002/ana.410410518 · Cited by 273 · see citing works

Genetic instabilities and hereditary neurological diseases

Wells, R. D., Warren, S. T., & Sarmiento, M. (1998) · Cited by 270 · see citing works

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles

Montermini, L. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.8.1261 · Cited by 207 · see citing works

Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat

Monrós, E., Moltó, M. D., Martı́nez, F., Canizares, J., Blanca, J., Vilchez, J. J., Prieto, F., de Frutos, R., & Palau, F. (1997) · The American Journal of Human Genetics · doi:10.1086/513887 · Cited by 175 · see citing works

Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae

Cavadini, P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.17.2523 · Cited by 141 · see citing works

Handbook of cerebellar diseases

Lechtenberg, R. J. (1993) · M. Dekker eBooks · Cited by 128 · see citing works

Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system

Montermini, L., Kish, S. J., Jiralerspong, S., Lamarche, J. B., & Pandolfo, M. (1997) · Neurology · doi:10.1212/wnl.49.2.606 · Cited by 86 · see citing works

Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.

Romeo, G. C., Menozzi, P., Ferlini, A., Fadda, S., Donato, S. D., Uziel, G., Lucci, B., Capodaglio, L., Filla, A., & Campanella, G. (1983) · Europe PMC (PubMed Central) · Cited by 79 · see citing works

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's Ataxia

Michele, G. D., Cavalcanti, F., Criscuolo, C., Pianese, L., Monticelli, A., Filla, A., & Cocozza, S. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.12.1901 · Cited by 76 · see citing works

Development of a sensitive reverse transcriptase PCR assay, RT-RPCR, utilizing rapid cycle times.Preprint

Tan, S. S., & Weis, J. H. (1992) · Genome Research · doi:10.1101/gr.2.2.137 · Cited by 70 · see citing works

Somatic Sequence Variation at the Friedreich Ataxia Locus Includes Complete Contraction of the Expanded GAA Triplet Repeat, Significant Length Variation in Serially Passaged Lymphoblasts and Enhanced Mutagenesis in the Flanking Sequence

Bidichandani, S. I., Purandare, S. M., Taylor, E. E., Gumin, G. J., Machkhas, H., Harati, Y., Gibbs, R. A., Ashizawa, T., & Patel, P. I. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.13.2425 · Cited by 59 · see citing works

A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis

Ohshima, K., Sakamoto, N., Łabuda, M., Poirier, J., Moseley, M. L., Montermini, L., Ranum, L. P. W., Wells, R. D., & Pandolfo, M. (1999) · Neurology · doi:10.1212/wnl.53.8.1854 · Cited by 55 · see citing works

Friedreich's ataxia: a descriptive epidemiological study in an Italian population

Leone, M. A., Brignolio, F., Rosso, M., Curtoni, E. S., Moroni, A., Tribolo, A., & Schiffer, D. (1990) · Clinical Genetics · doi:10.1111/j.1399-0004.1990.tb03566.x · Cited by 47 · see citing works

Adaptive Response of Iron Absorption to Anemia, Increased Erythropoiesis, Iron Deficiency, and Iron Loading in β2-Microglobulin Knockout Mice

Santos, M. M., Clevers, H. C., de Sousa, M. A. B., & Marx, J. J. M. (1998) · Blood · doi:10.1182/blood.v91.8.3059.3059_3059_3065 · Cited by 42 · see citing works

The heart in Friedreich's ataxia.

Pentland, B., & Fox, K. A. A. (1983) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.46.12.1138 · Cited by 38 · see citing works

Intracellular iron transport and storage: from molecular mechanisms to health implications

Mackenzie, E. L., Iwasaki, K., & Tsuji, Y. (2008) · Antioxidants & Redox Signaling · doi:10.1089/ars.2007.1893 · Cited by 526 · see citing works

Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics

Koeppen, A. H. (2011) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2011.01.010 · Cited by 447 · see citing works

Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia

Calabrese, V., Lodi, R., Tonon, C., D’Agata, V., Sapienza, M. A., Scapagnini, G., Mangiameli, A., Pennisi, G., Stella, A. M. G., & Butterfield, D. A. (2005) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2005.03.012 · Cited by 407 · see citing works

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

Al‐Mahdawi, S., Pinto, R. M., Varshney, D., Lawrence, L., Lowrie, M. B., Hughes, S., Webster, Z., Blake, J. C., Cooper, J. A. D., King, R. H. M., et al. (2006) · Genomics · doi:10.1016/j.ygeno.2006.06.015 · Cited by 240 · see citing works

HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model

Rai, M., Soragni, E., Jenssen, K., Burnett, R., Herman, D., Coppola, G., Geschwind, D. H., Gottesfeld, J. M., & Pandolfo, M. (2008) · PLoS ONE · doi:10.1371/journal.pone.0001958 · Cited by 216 · see citing works

Iron –sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery

Maio, N., & Rouault, T. A. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2014.09.009 · Cited by 215 · see citing works

Friedreich’s Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA•TTC Triplet Repeat Instability

Ku, S., Soragni, E., Campau, E., Thomas, E., Altun, G., Laurent, L., Loring, J., Napierala, M., & Gottesfeld, J. (2010) · Cell Stem Cell · doi:10.1016/j.stem.2010.09.014 · Cited by 234 · see citing works

Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia

Simon, D., Seznec, H., Gansmuller, A., Carelle, N., Weber, P., Metzger, D., Rustin, P., Koenig, M., & Puccio, H. (2004) · The Journal of Neuroscience · doi:10.1523/jneurosci.4549-03.2004 · Cited by 205 · see citing works

Friedreich Ataxia: Molecular Mechanisms, Redox Considerations, and Therapeutic Opportunities

Santos, R., Lefevre, S. D., Sliwa, D., Seguin, A., Camadro, J., & Lesuisse, E. (2010) · Antioxidants and Redox Signaling · doi:10.1089/ars.2009.3015 · Cited by 191 · see citing works

Trinucleotide repeats and neurodegenerative disease

Everett, C. M. (2004) · Brain · doi:10.1093/brain/awh278 · Cited by 182 · see citing works

Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia

Hick, A., Wattenhofer‐Donzé, M., Chintawar, S., Tropel, P., Simard, J. P., Vaucamps, N., Gall, D., Lambot, L., André, C., Reutenauer, L., et al. (2012) · Disease Models & Mechanisms · doi:10.1242/dmm.010900 · Cited by 155 · see citing works

Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis

Ast, T., Meisel, J. D., Patra, S., Wang, H., Grange, R. M. H., Kim, S. H., Calvo, S. E., Orefice, L. L., Nagashima, F., Ichinose, F., et al. (2019) · Cell · doi:10.1016/j.cell.2019.03.045 · Cited by 156 · see citing works

The Nrf2 induction prevents ferroptosis in Friedreich's Ataxia

Rosa, P. L., Petrillo, S., Turchi, R., Berardinelli, F., Schirinzi, T., Vasco, G., Lettieri‐Barbato, D., Fiorenza, M. T., Bertini, E., Aquilano, K., et al. (2020) · Redox Biology · doi:10.1016/j.redox.2020.101791 · Cited by 149 · see citing works

Oxidative stress in inherited mitochondrial diseases

Hayashi, G., & Cortopassi, G. A. (2015) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2015.05.039 · Cited by 149 · see citing works

Two New Pimelic Diphenylamide HDAC Inhibitors Induce Sustained Frataxin Upregulation in Cells from Friedreich's Ataxia Patients and in a Mouse Model

Rai, M., Soragni, E., Chou, C. J., Barnes, G., Jones, S. E., Rusche, J. R., Gottesfeld, J. M., & Pandolfo, M. (2010) · PLoS ONE · doi:10.1371/journal.pone.0008825 · Cited by 148 · see citing works

Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation

Martelli, A., & Puccio, H. M. (2014) · Frontiers in Pharmacology · doi:10.3389/fphar.2014.00130 · Cited by 148 · see citing works

Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia

Seznec, H. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh114 · Cited by 138 · see citing works

Ferroptosis as a Novel Therapeutic Target for Friedreich’s Ataxia

Cotticelli, M. G., Xia, S. J., Lin, D., Lee, T., Terrab, L., Wipf, P., Huryn, D. M., & Wilson, R. B. (2019) · Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.118.252759 · Cited by 137 · see citing works

Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich’s ataxia

Abeti, R., Parkinson, M. H., Hargreaves, I. P., Angelova, P. R., Sandi, C., Pook, M. A., Giunti, P., & Abramov, A. Y. (2016) · Cell Death & Disease · doi:10.1038/cddis.2016.111 · Cited by 133 · see citing works

Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia

Coppola, G., Marmolino, D., Lu, D., Wang, Q., Cnop, M., Rai, M., Acquaviva, F., Cocozza, S., Pandolfo, M., & Geschwind, D. H. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp183 · Cited by 122 · see citing works

Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia

Piguet, F., de Montigny, C., Vaucamps, N., Reutenauer, L., Eisenmann, A., & Puccio, H. M. (2018) · Molecular Therapy · doi:10.1016/j.ymthe.2018.05.006 · Cited by 119 · see citing works

Friedreich ataxia: a paradigm for mitochondrial diseases

Puccio, H. M., & Koenig, M. (2002) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(02)00298-8 · Cited by 111 · see citing works

Reduction in frataxin causes progressive accumulation of mitochondrial damage

Karthikeyan, G. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg349 · Cited by 102 · see citing works

Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia

Chandran, V., Gao, K., Swarup, V., Versano, R., Dong, H., Jordan, M. C., & Geschwind, D. H. (2017) · eLife · doi:10.7554/elife.30054 · Cited by 96 · see citing works

Central role and mechanisms of β‐cell dysfunction and death in friedreich ataxia–associated diabetes

Cnop, M., Igoillo‐Esteve, M., Rai, M., Corroller, A. B., Serroukh, Y. I. M., Depondt, C., Musuaya, A., Marhfour, I., Ladrière, L., Lopez, X. M., et al. (2012) · Annals of Neurology · doi:10.1002/ana.23698 · Cited by 100 · see citing works

GAA repeat instability in Friedreich ataxia YAC transgenic mice

Al‐Mahdawi, S., Pinto, R. M., Ruddle, P., Carroll, C. J., Webster, Z., & Pook, M. A. (2004) · Genomics · doi:10.1016/j.ygeno.2004.04.003 · Cited by 99 · see citing works

Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia

Li, Y., Polak, U., Bhalla, A. D., Rozwadowska, N., Napierala, J. S., Lynch, D. R., Dent, S., & Напиерала, М. (2015) · Molecular Therapy · doi:10.1038/mt.2015.41 · Cited by 97 · see citing works

Modelling brain diseases in mice: the challenges of design and analysis

Watase, K., & Zoghbi, H. Y. (2003) · Nature Reviews Genetics · doi:10.1038/nrg1045 · Cited by 94 · see citing works

Diabetes in Friedreich Ataxia

Cnop, M., Mulder, H., & Igoillo‐Esteve, M. (2013) · Journal of Neurochemistry · doi:10.1111/jnc.12216 · Cited by 93 · see citing works

Animal and cellular models of Friedreich ataxia

Perdomini, M., Hick, A., Puccio, H. M., & Pook, M. A. (2013) · Journal of Neurochemistry · doi:10.1111/jnc.12219 · Cited by 85 · see citing works

From mice to men: lessons from mutant ataxic mice

Cendelín, J. (2014) · Cerebellum & Ataxias · doi:10.1186/2053-8871-1-4 · Cited by 83 · see citing works

Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia

Igoillo‐Esteve, M., Oliveira, A. F., Cosentino, C., Fantuzzi, F., Demarez, C., Toivonen, S., Hu, A., Chintawar, S., Lopes, M., Pachera, N., et al. (2019) · JCI Insight · doi:10.1172/jci.insight.134221 · Cited by 78 · see citing works

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia

Sahdeo, S., Scott, B. D., McMackin, M. Z., Jasoliya, M., Brown, B. M., Wulff, H., Perlman, S., Pook, M. A., & Cortopassi, G. A. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu408 · Cited by 78 · see citing works

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model

Clark, R. M., Biase, I. D., Malykhina, A. P., Al‐Mahdawi, S., Pook, M. A., & Bidichandani, S. I. (2006) · Human Genetics · doi:10.1007/s00439-006-0249-3 · Cited by 74 · see citing works

Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia

Abeti, R., Uzun, E., Renganathan, I., Honda, T., Pook, M. A., & Giunti, P. (2015) · Pharmacological Research · doi:10.1016/j.phrs.2015.05.015 · Cited by 74 · see citing works

Advancements in the pathophysiology of Friedreich’s Ataxia and new prospects for treatments

Babady, N. E., Carelle, N., Wells, R. D., Rouault, T. A., Hirano, M., Lynch, D. R., Delatycki, M. B., Wilson, R. B., Isaya, G., & Puccio, H. (2007) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2007.05.009 · Cited by 73 · see citing works

Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models

Martelli, A., Напиерала, М., & Puccio, H. M. (2012) · Disease Models & Mechanisms · doi:10.1242/dmm.008706 · Cited by 73 · see citing works

Long intronic GAA•TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia

Soragni, E., Herman, D., Dent, S., Gottesfeld, J. M., Wells, R. D., & Напиерала, М. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn604 · Cited by 73 · see citing works

Friedreich ataxia?update on pathogenesis and possible therapies

Voncken, M., Ioannou, P. A., & Delatycki, M. B. (2004) · Neurogenetics · doi:10.1007/s10048-003-0170-z · Cited by 70 · see citing works

Expanded GAA repeats impede transcription elongation through theFXNgene and induce transcriptional silencing that is restricted to theFXNlocus

Li, Y., Lu, Y., Polak, U., Lin, K., Shen, J., Farmer, J. M., Seyer, L. A., Bhalla, A. D., Rozwadowska, N., Lynch, D. R., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv397 · Cited by 70 · see citing works

Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia

Lin, H., Magrané, J., Rattelle, A., Степанова, А., Galkin, A. S., Clark, E. M., Dong, Y., Halawani, S. M., & Lynch, D. R. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.030502 · Cited by 68 · see citing works

Small molecules affecting transcription in Friedreich ataxia

Gottesfeld, J. M. (2007) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2007.06.014 · Cited by 67 · see citing works

A novel GAA repeat expansion-based mouse model of Friedreich ataxia

Virmouni, S. A., Ezzatizadeh, V., Sandi, C., Sandi, M., Al‐Mahdawi, S., Chutake, Y. K., & Pook, M. A. (2015) · Disease Models & Mechanisms · doi:10.1242/dmm.018952 · Cited by 62 · see citing works

Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxia

Gottesfeld, J. M., Rusche, J. R., & Pandolfo, M. (2013) · Journal of Neurochemistry · doi:10.1111/jnc.12302 · Cited by 61 · see citing works

Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia

Huang, M. L. H., Sivagurunathan, S., Ting, S., Jansson, P. J., Austin, C., Kelly, M., Semsarian, C., Zhang, D., & Richardson, D. R. (2013) · American Journal Of Pathology · doi:10.1016/j.ajpath.2013.05.032 · Cited by 61 · see citing works

Pms2 Suppresses Large Expansions of the (GAA·TTC)n Sequence in Neuronal Tissues

Bourn, R. L., Biase, I. D., Pinto, R. M., Sandi, C., Al‐Mahdawi, S., Pook, M. A., & Bidichandani, S. I. (2012) · PLoS ONE · doi:10.1371/journal.pone.0047085 · Cited by 59 · see citing works

Cerebellar Astrocytes: Much More Than Passive Bystanders In Ataxia Pathophysiology

Cerrato, V. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9030757 · Cited by 40 · see citing works

Multicellular models of Friedreich ataxia

Puccio, H. M. (2009) · Journal of Neurology · doi:10.1007/s00415-009-1004-1 · Cited by 54 · see citing works

Gene expression profiling in frataxin deficient mice: Microarray evidence for significant expression changes without detectable neurodegeneration

Coppola, G., Choi, S.-H., Santos, M. M., Miranda, C. J., Tentler, D., Wexler, E., Pandolfo, M., & Geschwind, D. H. (2006) · Neurobiology of Disease · doi:10.1016/j.nbd.2005.11.014 · Cited by 53 · see citing works

Future Prospects of Gene Therapy for Friedreich’s Ataxia

Ocana-Santero, G., Díaz‐Nido, J., & Herranz-Martín, S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22041815 · Cited by 53 · see citing works

Influence of Friedreich Ataxia GAA Noncoding Repeat Expansions on Pre-mRNA Processing

Baralle, M., Pastor, T., Bussani, E., & Pagani, F. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.06.018 · Cited by 51 · see citing works

Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34

Shen, Y., McMackin, M. Z., Shan, Y., Raetz, A. G., David, S. S., & Cortopassi, G. A. (2016) · PLoS ONE · doi:10.1371/journal.pone.0151026 · Cited by 52 · see citing works

Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice

Sarsero, J. P., Li, L., Holloway, T. P., Voullaire, L. E., Gazeas, S., Fowler, K. J., Kirby, D. M., Thorburn, D. R., Galle, A., Cheema, S. S., et al. (2004) · Mammalian Genome · doi:10.1007/s00335-004-3019-3 · Cited by 48 · see citing works

Mouse models for neurological disease

Hafezparast, M., Ahmad‐Annuar, A., Wood, N. W., Tabrizi, S. J., & Fisher, E. (2002) · The Lancet Neurology · doi:10.1016/s1474-4422(02)00100-x · Cited by 46 · see citing works

Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich’s Ataxia Neural Stem Cells

Rosa, P. L., Russo, M., D’Amico, J., Petrillo, S., Aquilano, K., Lettieri‐Barbato, D., Turchi, R., Bertini, E., & Piemonte, F. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00356 · Cited by 46 · see citing works

Ferroptosis in Friedreich’s Ataxia: A Metal-Induced Neurodegenerative Disease

Rosa, P. L., Petrillo, S., Fiorenza, M. T., Bertini, E., & Piemonte, F. (2020) · Biomolecules · doi:10.3390/biom10111551 · Cited by 47 · see citing works

Friedreich Ataxia: Detection of GAA Repeat Expansions and Frataxin Point Mutations

Pandolfo, M. (2006) · Humana Press eBooks · doi:10.1385/1-59745-088-x:197 · Cited by 44 · see citing works

Oral Administration of the Pimelic Diphenylamide HDAC Inhibitor HDACi 4b Is Unsuitable for Chronic Inhibition of HDAC Activity in the CNS In Vivo

Beconi, M. G., Aziz, O., Matthews, K. L., Moumné, L., O’Connell, C., Yates, D., Clifton, S., Pett, H., Vann, J., Crowley, L., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0044498 · Cited by 43 · see citing works

Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich’s Ataxia

Monfort, B., Want, K., Gervason, S., & D’Autréaux, B. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.838335 · Cited by 42 · see citing works

Induced pluripotent stem cell technology for modelling and therapy of cerebellar ataxia

Watson, L. M., Wong, M. M. K., & Becker, E. B. E. (2015) · Open Biology · doi:10.1098/rsob.150056 · Cited by 41 · see citing works

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia

Martelli, A., Friedman, L. S., Reutenauer, L., Messaddeq, N., Perlman, S., Lynch, D. R., Fedosov, K., Schulz, J. B., Pandolfo, M., & Puccio, H. M. (2012) · Disease Models & Mechanisms · doi:10.1242/dmm.009829 · Cited by 40 · see citing works

Knockout Mouse Models of Iron Homeostasis

Fleming, R. E., Qi, F., & Britton, R. S. (2011) · Annual Review of Nutrition · doi:10.1146/annurev-nutr-072610-145117 · Cited by 39 · see citing works

Transgenic mouse models for myotonic dystrophy type 1 (DM1)

Wansink, D. G., & Wieringa, B. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072859 · Cited by 37 · see citing works

New developments in pharmacotherapy for Friedreich ataxia

Clay, A., Hearle, P., Schadt, K. A., & Lynch, D. R. (2019) · Expert Opinion on Pharmacotherapy · doi:10.1080/14656566.2019.1639671 · Cited by 37 · see citing works

Rationale for the Development of 2-Aminobenzamide Histone Deacetylase Inhibitors as Therapeutics for Friedreich Ataxia

Soragni, E., Xu, C., Plasterer, H. L., Jacques, V., Rusche, J. R., & Gottesfeld, J. M. (2012) · Journal of Child Neurology · doi:10.1177/0883073812448533 · Cited by 36 · see citing works

Friedreich’s Ataxia: From the (GAA) n Repeat Mediated Silencing to New Promising Molecules for Therapy

Marmolino, D., & Acquaviva, F. (2009) · The Cerebellum · doi:10.1007/s12311-008-0084-2 · Cited by 35 · see citing works

Methylene blue rescues heart defects in a Drosophila model of Friedreich's ataxia

Tricoire, H., Palandri, A., Bourdais, A., Camadro, J., & Monnier, V. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt493 · Cited by 35 · see citing works

Cellular, Molecular and Functional Characterisation of YAC Transgenic Mouse Models of Friedreich Ataxia

Virmouni, S. A., Sandi, C., Al‐Mahdawi, S., & Pook, M. A. (2014) · PLoS ONE · doi:10.1371/journal.pone.0107416 · Cited by 34 · see citing works

The heart in Friedreich's Ataxia: Basic findings and clinical implications

Payne, R. M. (2011) · Progress in Pediatric Cardiology · doi:10.1016/j.ppedcard.2011.02.007 · Cited by 34 · see citing works

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia

Hayashi, G., Shen, Y., Pedersen, T. L., Newman, J. W. I., Pook, M. A., & Cortopassi, G. A. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu407 · Cited by 33 · see citing works

Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington’s Disease

Zhao, X.-N., Kumari, D., Miller, C. J., Kim, G.-Y., Hayward, B. E., Vitalo, A. G., Pinto, R. M., & Usdin, K. (2021) · Journal of Huntington s Disease · doi:10.3233/jhd-200423 · Cited by 32 · see citing works

Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia

Lin, H., Magrané, J., Clark, E. M., Halawani, S. M., Warren, N., Rattelle, A., & Lynch, D. R. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.030049 · Cited by 32 · see citing works

Empirical Bayes Estimation of a Sparse Vector of Gene Expression Changes

Erickson, S. W., & Sabatti, C. (2005) · Statistical Applications in Genetics and Molecular Biology · doi:10.2202/1544-6115.1132 · Cited by 32 · see citing works

Clinical Neurogenetics

Collins, A. R. (2013) · Neurologic Clinics · doi:10.1016/j.ncl.2013.05.002 · Cited by 31 · see citing works

Pathophysiogical and therapeutic progress in Friedreich ataxia

Puccio, H. M., Anheim, M., & Tranchant, C. (2014) · Revue Neurologique · doi:10.1016/j.neurol.2014.03.008 · Cited by 29 · see citing works

A role for astrocytes in cerebellar deficits in frataxin deficiency: Protection by insulin-like growth factor I

Franco, C., Genı́s, L., Navarro, J. A., Pérez‐Domper, P., Fernandez, A. M., Schneuwly, S., & Alemán, I. T. (2017) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2017.02.008 · Cited by 25 · see citing works

Neurobehavioral deficits in the KIKO mouse model of Friedreich’s ataxia

McMackin, M. Z., Henderson, C. K., & Cortopassi, G. A. (2016) · Behavioural Brain Research · doi:10.1016/j.bbr.2016.08.053 · Cited by 28 · see citing works

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

Al‐Mahdawi, S., Ging, H., Bayot, A., Cavalcanti, F., Cognata, V. L., Cavallaro, S., Giunti, P., & Pook, M. A. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00443 · Cited by 28 · see citing works

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 · see citing works

Correlation between frataxin expression and contractility revealed by in vitro Friedreich’s ataxia cardiac tissue models engineered from human pluripotent stem cells

Wong, A. O.-T., Wong, G., Shen, M., Chow, M. Z.-Y., Tse, W. W., Gurung, B., Mak, S. Y., Lieu, D. K., Costa, K. D., Chan, C. W., et al. (2019) · Stem Cell Research & Therapy · doi:10.1186/s13287-019-1305-y · Cited by 27 · see citing works

Friedreich Ataxia

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

Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming

Polak, U., Li, Y., Napierala, J. S., & Напиерала, М. (2016) · Stem Cells and Development · doi:10.1089/scd.2016.0147 · Cited by 26 · see citing works

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 25 · see citing works

A promising mouse model for Friedreich Ataxia progressing like human patients

Gérard, C., Archambault, A. F., Bouchard, C., & Tremblay, J. P. (2022) · Behavioural Brain Research · doi:10.1016/j.bbr.2022.114107 · Cited by 24 · see citing works

Mitochondrial impairment, decreased sirtuin activity and protein acetylation in dorsal root ganglia in Friedreich Ataxia models

Sanz‐Alcázar, A., Britti, E., Delaspre, F., Medina‐Carbonero, M., Pazos-Gil, M., Tamarit, J., Ros, J., & Cabiscol, E. (2023) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-023-05064-4 · Cited by 21 · see citing works

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 · see citing works

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 · see citing works

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 21 · see citing works

Mouse Models of Triplet Repeat Diseases

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

Genetic, Biochemical, and Biophysical Methods for Studying Fe S Proteins and Their Assembly

de Choudens, S. O., & Barras, F. (2017) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/bs.mie.2017.07.015 · Cited by 19 · see citing works

Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response

Cotticelli, M. G., Xia, S. J., Truitt, R., Doliba, N. M., Rozo, A. V., Tobias, J. W., Lee, T., Chen, J., Napierala, J. S., Напиерала, М., et al. (2022) · Disease Models & Mechanisms · doi:10.1242/dmm.049497 · Cited by 18 · see citing works

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 18 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

Targeting the gene in Friedreich ataxia

Hebert, M. D. (2008) · Biochimie · doi:10.1016/j.biochi.2007.12.005 · Cited by 16 · see citing works

Role of transcript and interplay between transcription and replication in triplet-repeat instability in mammalian cells

Rindler, P. M., & Bidichandani, S. I. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq788 · Cited by 15 · see citing works

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 · see citing works

Gene-based approaches toward Friedreich ataxia therapeutics

Hebert, M. D., & Whittom, A. A. (2007) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-007-7293-6 · Cited by 14 · see citing works

Apparent Opportunities and Hidden Pitfalls: The Conflicting Results of Restoring NRF2-Regulated Redox Metabolism in Friedreich’s Ataxia Pre-Clinical Models and Clinical Trials

Tiberi, J., Segatto, M., Fiorenza, M. T., & Rosa, P. L. (2023) · Biomedicines · doi:10.3390/biomedicines11051293 · Cited by 12 · see citing works

957. Accurate Humanized Mouse Models of Friedreich Ataxia

(2005) · Molecular Therapy · doi:10.1016/j.ymthe.2005.07.500

Multicellular models of Friedreich ataxia

Puccio, H. M. (2009) · Journal of Neurology · doi:10.1007/s00415-009-1004-1 · Cited by 54 · see citing works

Genotype and phenotype characterisation of Friedreich ataxia mouse models and cells

Anjomani‐Virmouni, S. (2013) · Brunel University Research Archive (BURA) (Brunel University London)

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

Al‐Mahdawi, S., Pinto, R. M., Varshney, D., Lawrence, L., Lowrie, M. B., Hughes, S., Webster, Z., Blake, J. C., Cooper, J. A. D., King, R. H. M., et al. (2006) · Genomics · doi:10.1016/j.ygeno.2006.06.015 · Cited by 240 · see citing works

A promising mouse model for Friedreich Ataxia progressing like human patients

Gérard, C., Archambault, A. F., Bouchard, C., & Tremblay, J. P. (2022) · Behavioural Brain Research · doi:10.1016/j.bbr.2022.114107 · Cited by 24 · see citing works