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 accessAbstract
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.
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“Patients with the A77D mutation exhibit mainly early iron overload in the reticuloendocytic macrophages (205).”
From Intracellular iron transport and storage: from molecular mechanisms to health implications (2008) · cites this paper as [205]
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“Type 4 HH is caused by a mutation in the Fpn gene (205, 218).”
From Intracellular iron transport and storage: from molecular mechanisms to health implications (2008) · cites this paper as [205]
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Cites
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-citationClinical 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-citationCLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS
Harding, A. E. (1983) · The Lancet · doi:10.1016/s0140-6736(83)92879-9 · Cited by 987
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-citationFrataxin 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-citationPuccio, 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-citationFilla, 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-citationBidichandani, S. I., Ashizawa, T., & Patel, P. I. (1998) · The American Journal of Human Genetics · doi:10.1086/301680 · Cited by 381
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- Romeo G, 1983, Am. J. Hum. Genet., 35, 523
- Filla A, 1996, Am. J. Hum. Genet., 59, 554
Cited by
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
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
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Metadata
- 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
- Venue
- FEBS Letters
- Publisher
- Wiley
- Published
- 2002-01-18
- Volume
- 512
- Issue
- 1-3
- Pages
- 291-297
- ISSN
- 0014-5793 (ISSN-L)
- 1873-3468
- 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
- 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
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