Cited by 172Genetic Neurodegenerative DiseasesNeurological diseases and metabolismGenetics and Neurodevelopmental Disorders

The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.

Frataxin knockin mouse

Open access

Miranda, Carlos J, Santos, Manuela M, Ohshima, Keiichi, Smith, Julie, Li, Liangtao, Bunting, Michaeline, Cossée, Mireille, Koenig, Michael, Sequeiros, Jorge, Kaplan, Jerry, Pandolfo, Massimo·2002·FEBS Letters

DOI 10.1016/s0014-5793(02)02251-2

Open this paper in CoChat — free account Open PDF

Abstract

Friedreich ataxia is the consequence of frataxin deficiency, most often caused by a GAA repeat expansion in intron 1 of the corresponding gene. Frataxin is a mitochondrial protein involved in iron homeostasis. As an attempt to generate a mouse model of the disease, we introduced a (GAA)230 repeat within the mouse frataxin gene by homologous recombination. GAA repeat knockin mice were crossed with frataxin knockout mice to obtain double heterozygous mice expressing 25–36% of wild‐type frataxin levels. These mice were viable and did not develop anomalies of motor coordination, iron metabolism or response to iron loading. Repeats were meiotically and mitotically stable.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1016/s0014-5793(02)02251-2

Cites

34 of 34 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

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
Self-citation
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
Self-citation
CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS
Harding, A. E. (1983) · The Lancet · doi:10.1016/s0140-6736(83)92879-9 · Cited by 987
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
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
Self-citation
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
Self-citation
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
Self-citation
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
Self-citation
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

Show all 34 references

Research works printed but not linked: 2

Romeo G, 1983, Am. J. Hum. Genet., 35, 523
Filla A, 1996, Am. J. Hum. Genet., 59, 554

Sorted by citations

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
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
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 411
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
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 224
Self-citation
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 222
Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability
Ku, S., Soragni, E., Campau, E., Thomas, E. A., Altun, G., Laurent, L. C., Loring, J. F., Напиерала, М., & Gottesfeld, J. M. (2010) · Cell stem cell · doi:10.1016/j.stem.2010.09.014 · Cited by 221
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
Self-citation
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 197
Trinucleotide repeats and neurodegenerative disease
Everett, C. M. (2004) · Brain · doi:10.1093/brain/awh278 · Cited by 182
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 154
Self-citation
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 160
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 150
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
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 155
Self-citation
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
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
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
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
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 127
Self-citation
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
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
Self-citation
Reduction in frataxin causes progressive accumulation of mitochondrial damage
Karthikeyan, G. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg349 · Cited by 102
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 103
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 108
Self-citation
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
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 98
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
Diabetes in Friedreich Ataxia
Cnop, M., Mulder, H., & Igoillo‐Esteve, M. (2013) · Journal of Neurochemistry · doi:10.1111/jnc.12216 · Cited by 99
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 92
From mice to men: lessons from mutant ataxic mice
Cendelín, J. (2014) · Cerebellum & Ataxias · doi:10.1186/2053-8871-1-4 · Cited by 84
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
Self-citation
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 81
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
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 77
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
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 80
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 79
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
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 77
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
Small molecules affecting transcription in Friedreich ataxia
Gottesfeld, J. M. (2007) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2007.06.014 · Cited by 71
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
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 63
Self-citation
Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia
Huang, M., 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 62
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 56
Cerebellar Astrocytes: Much More Than Passive Bystanders In Ataxia Pathophysiology
Cerrato, V. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9030757 · Cited by 40
Multicellular models of Friedreich ataxia
Puccio, H. M. (2009) · Journal of Neurology · doi:10.1007/s00415-009-1004-1 · Cited by 58
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 58
Self-citation
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
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 54
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
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
Self-citation
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
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
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 49
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
Self-citation
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 44
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
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
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
Self-citation
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
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
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 38
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 41
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
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 41
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
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 36
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
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
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
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
Clinical Neurogenetics
Collins, A. R. (2013) · Neurologic Clinics · doi:10.1016/j.ncl.2013.05.002 · Cited by 31
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 31
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
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
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
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
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
Friedreich Ataxia
Pandolfo, M. (2012) · Journal of Child Neurology · doi:10.1177/0883073812448534 · Cited by 26
Self-citation
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 30
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
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
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
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
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
Mouse Models of Triplet Repeat Diseases
Bates, G. P., & Gonitel, R. (2006) · Molecular Biotechnology · doi:10.1385/mb:32:2:147 · Cited by 20
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
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
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
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
Targeting the gene in Friedreich ataxia
Hebert, M. D. (2008) · Biochimie · doi:10.1016/j.biochi.2007.12.005 · Cited by 16
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
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
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
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

Authors: Miranda, C. J., Santos, M. M., Ohshima, K., Smith, J., Li, L., Bunting, M., Cossée, M., Koenig, M., Sequeiros, J., Kaplan, J., & Pandolfo, M.
Affiliations: Universidade do Porto (PT)
Hôpital Notre-Dame (CA)
University of Utah (US)
Centre National de la Recherche Scientifique (FR)
Erasmus Hospital (BE)
Corresponding author: Pandolfo, Massimo
ORCID: Miranda, Carlos J
Santos, Manuela M
Ohshima, Keiichi
Li, Liangtao
Cossée, Mireille
Sequeiros, Jorge
Pandolfo, Massimo
Venue: FEBS Letters
Publisher: Wiley
Published: 2002-01-18
Volume: 512
Issue: 1-3
Pages: 291-297
ISSN: 0014-5793 (ISSN-L)
1873-3468
DOI: 10.1016/s0014-5793(02)02251-2
OpenAlex: W1992187326
Cited by: 172
References: 34
Citations by year: 2026: 4 · 2025: 5 · 2024: 5 · 2023: 6 · 2022: 6 · 2021: 3 · 2020: 6 · 2019: 10 · 2018: 5 · 2017: 6 · 2016: 5 · 2015: 7 · 2014: 12 · 2013: 13 · 2012: 8
FWCI: 3.49
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: FEBS Letters (publishedVersion)
PubMed (publishedVersion)
HAL (submittedVersion)
Dépôt institutionnel de l'Université libre de Bruxelles (Université Libre de Bruxelles) (submittedVersion)
Funders: National Institute of Diabetes and Digestive and Kidney Diseases (DK 52380, T32 DK07115, R01DK052380, T32DK007115)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: Friedreich's ataxia, frataxin, GAA repeat expansion, mitochondrial iron homeostasis, homologous recombination, motor coordination, iron loading
MeSH terms: Frataxin, Alleles, Animals, Friedreich Ataxia, Homeostasis, Iron, Mice, Mutant Strains, Mitochondria, Phosphotransferases (Alcohol Group Acceptor), Trinucleotide Repeat Expansion, Iron-Binding Proteins, Mice

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Frataxin knockin mouse

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks