{"doi":"10.1016/j.febslet.2004.07.022","title":"Frataxin overexpressing mice","abstract":"<jats:p>Friedreich ataxia, the most common autosomal recessive ataxia, is caused by frataxin deficiency. Reduction of frataxin has been associated with iron accumulation and sensitivity to iron induced oxidative stress. To better understand the function of frataxin, transgenic mice (tgFxn) overexpressing human frataxin were generated. Iron metabolism parameters in tgFxn were normal and no signs of ataxia or other obvious abnormalities were observed, indicating that overexpression of frataxin in mouse is innocuous. Several hypotheses for frataxin function were evaluated in tgFxn mice. In particular, we observed that TgFxn mice show an altered response during hematopoietic differentiation, suggesting that frataxin may directly affect heme synthesis.</jats:p>","journal":"FEBS Letters","year":2004,"id":644683,"datarank":1.5524421652437943,"base_score":3.4657359027997265,"endowment":3.4657359027997265,"self_citation_contribution":0.519860385419959,"citation_network_contribution":1.0325817798238353,"self_endowment_contribution":0.519860385419959,"citer_contribution":1.0325817798238353,"corpus_percentile":null,"corpus_rank":null,"citation_count":31,"citer_count":29,"citers_with_citation_signal":26,"citers_with_endowment":26,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1678172,"name":"Manuela M Santos","orcid":null,"position":1,"is_corresponding":false},{"id":211436,"name":"Keiichi Ohshima","orcid":null,"position":2,"is_corresponding":false},{"id":1678173,"name":"Marco Tessaro","orcid":null,"position":3,"is_corresponding":false},{"id":78702,"name":"Jorge Sequeiros","orcid":"0000-0002-9846-1037","position":4,"is_corresponding":false},{"id":904281,"name":"Massimo Pandolfo","orcid":"0000-0001-5230-5787","position":5,"is_corresponding":false},{"id":1678171,"name":"Carlos J Miranda","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Frataxin overexpressing mice","abstract":"<jats:p>Friedreich ataxia, the most common autosomal recessive ataxia, is caused by frataxin deficiency. Reduction of frataxin has been associated with iron accumulation and sensitivity to iron induced oxidative stress. To better understand the function of frataxin, transgenic mice (tgFxn) overexpressing human frataxin were generated. Iron metabolism parameters in tgFxn were normal and no signs of ataxia or other obvious abnormalities were observed, indicating that overexpression of frataxin in mouse is innocuous. Several hypotheses for frataxin function were evaluated in tgFxn mice. In particular, we observed that TgFxn mice show an altered response during hematopoietic differentiation, suggesting that frataxin may directly affect heme synthesis.</jats:p>","is_dataset_classified":null,"base_score":3.4657359027997265,"endowment":3.4657359027997265,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"15304363","pmcid":null,"openalex_id":"https://openalex.org/W1966828804","authors":[],"funders":[{"funder_name":"NINDS NIH HHS","grant_id":"R01-NS34192","title":null},{"funder_name":"Canadian Institutes of Health Research","grant_id":"unidentified","title":"unidentified"},{"funder_name":"Fundação para a Ciência e a Tecnologia, I.P.","grant_id":"PTDC/CCI-BIO/29266/2017","title":"Deep Drug Discovery and Deployment"}],"total_grants":3,"fwci":1.1147,"citation_percentile":0.71667403,"influential_citations":0,"citation_trend":[{"year":2014,"count":2},{"year":2015,"count":1},{"year":2016,"count":2},{"year":2017,"count":3},{"year":2018,"count":3},{"year":2019,"count":1},{"year":2020,"count":2},{"year":2022,"count":1}],"oa_status":"closed","license":"Wiley Online Library User Agreement","oa_locations":[{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2Fj.febslet.2004.07.022","host_type":"publisher"},{"url":"https://febs.onlinelibrary.wiley.com/doi/pdf/10.1016/j.febslet.2004.07.022","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.febslet.2004.07.022","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/15304363","host_type":"repository"},{"url":"https://dipot.ulb.ac.be/dspace/bitstream/2013/51396/1/Elsevier_26478.pdf","host_type":"repository"},{"url":"http://dx.doi.org/10.1016/j.febslet.2004.07.022","host_type":""},{"url":"https://dx.doi.org/10.1016/j.febslet.2004.07.022","host_type":""},{"url":"http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51396","host_type":""}],"fields_of_study":["Genetic Neurodegenerative Diseases","Mitochondrial Function and Pathology","Amyotrophic Lateral Sclerosis Research","0301 basic medicine","03 medical and health sciences","0303 health sciences","Animals","DNA Primers","Erythrocyte Count","Friedreich Ataxia","Hematocrit","Hematopoiesis","Humans","Iron","Iron-Binding Proteins","Mice","Mice, Mutant Strains","Mice, Transgenic","Polymerase Chain Reaction","Transferrin","Frataxin"],"mesh_terms":["Frataxin","Animals","Erythrocyte Count","Friedreich Ataxia","Hematocrit","Hematopoiesis","Humans","Iron","Mice, Mutant Strains","Mice, Transgenic","Transferrin","Polymerase Chain Reaction","DNA Primers","Iron-Binding Proteins","Mice"],"keywords":["Frataxin","Ataxia","Iron-binding proteins","Genetically modified mouse","Transgene","Oxidative stress","Function (biology)","Chemistry","Biology","Haematopoiesis","Cell biology","Biochemistry","Gene","Neuroscience","Stem cell","tgFxn","FA","FA, Friedreich ataxia","Iron-Binding Proteins -- genetics","Iron","Mice, Transgenic","Heme","Hematopoiesis -- genetics","doxorubicin","Polymerase Chain Reaction","Transgenic","PHZ, phenylhydrazine","iron-sulfur cluster","Mice","ISC","Animals","Humans","Transferrin -- metabolism","ISC, iron-sulfur cluster","PHZ","Iron -- metabolism","DNA Primers","DOX","Transferrin","Sciences bio-médicales et agricoles","tgFxn, transgenic mice overexpressing frataxin","DOX, doxorubicin","transgenic mice overexpressing frataxin","Mice, Mutant Strains","Hematopoiesis","Mutant Strains","Phenylhydrazine","Friedreich ataxia","Hematocrit","Friedreich Ataxia -- blood","Friedreich Ataxia -- genetics","Erythrocyte Count"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. Good health"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-09T01:48:36.411143Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}