{"doi":"10.3390/ph11030089","title":"Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?","abstract":"<jats:p>Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene. These expansions cause the decreased expression of this mitochondrial protein. Many evidences indicate that frataxin deficiency causes the deregulation of cellular iron homeostasis. In this review, we will discuss several hypotheses proposed for frataxin function, their caveats, and how they could provide an explanation for the deregulation of iron homeostasis found in frataxin-deficient cells. We will also focus on the potential mechanisms causing cellular dysfunction in Friedreich Ataxia and on the potential use of the iron chelator deferiprone as a therapeutic agent for this disease.</jats:p>","journal":"Pharmaceuticals","year":2018,"id":659965,"datarank":0.5533319181170905,"base_score":3.6888794541139363,"endowment":3.6888794541139363,"self_citation_contribution":0.5533319181170905,"citation_network_contribution":0.0,"self_endowment_contribution":0.5533319181170905,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":39,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"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":1722786,"name":"Rosa Purroy","orcid":"0000-0001-7109-3003","position":1,"is_corresponding":false},{"id":1722787,"name":"Joaquim Ros","orcid":"0000-0003-0901-8648","position":2,"is_corresponding":false},{"id":1722788,"name":"Jordi Tamarit","orcid":"0000-0003-3227-6928","position":3,"is_corresponding":false},{"id":1285859,"name":"David Alsina","orcid":"0000-0003-0708-7391","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?","abstract":"<jats:p>Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene. These expansions cause the decreased expression of this mitochondrial protein. Many evidences indicate that frataxin deficiency causes the deregulation of cellular iron homeostasis. In this review, we will discuss several hypotheses proposed for frataxin function, their caveats, and how they could provide an explanation for the deregulation of iron homeostasis found in frataxin-deficient cells. We will also focus on the potential mechanisms causing cellular dysfunction in Friedreich Ataxia and on the potential use of the iron chelator deferiprone as a therapeutic agent for this disease.</jats:p>","is_dataset_classified":null,"base_score":3.6888794541139363,"endowment":3.6888794541139363,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"30235822","pmcid":null,"openalex_id":"https://openalex.org/W2890080732","authors":[],"funders":[{"funder_name":"Ministerio de Economia Industria y Competitividad (Spain)","grant_id":"SAF2017-83883-R","title":null},{"funder_name":"National Institutes of Health","grant_id":"5P41GM103311-36","title":"Resource for Biocomputing Visualization and Informatics"},{"funder_name":"NIGMS NIH HHS","grant_id":"P41 GM103311","title":null}],"total_grants":3,"fwci":1.9252,"citation_percentile":0.85777515,"influential_citations":0,"citation_trend":[{"year":2018,"count":1},{"year":2019,"count":7},{"year":2020,"count":6},{"year":2021,"count":6},{"year":2022,"count":4},{"year":2023,"count":5},{"year":2024,"count":6},{"year":2025,"count":3},{"year":2026,"count":1}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://www.mdpi.com/1424-8247/11/3/89/pdf?version=1537442400","host_type":"journal"},{"url":"https://www.mdpi.com/1424-8247/11/3/89/pdf?version=1537442400","host_type":"publisher"},{"url":"https://www.mdpi.com/1424-8247/11/3/89/pdf","host_type":"publisher"},{"url":"https://doi.org/10.3390/ph11030089","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/30235822","host_type":"repository"},{"url":"http://europepmc.org/pmc/articles/PMC6161073","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6161073","host_type":"repository"},{"url":"http://hdl.handle.net/10459.1/65008","host_type":"repository"},{"url":"https://doaj.org/article/735f4d945a1a4b39a463f934e9c78efb","host_type":"repository"},{"url":"http://dx.doi.org/10.3390/ph11030089","host_type":"repository"},{"url":"https://dx.doi.org/10.3390/ph11030089","host_type":""}],"fields_of_study":["Genetic Neurodegenerative Diseases","Mitochondrial Function and Pathology","Amyotrophic Lateral Sclerosis Research","0301 basic medicine","0303 health sciences","03 medical and health sciences"],"mesh_terms":[],"keywords":["Frataxin","Ataxia","Iron homeostasis","Trinucleotide repeat expansion","Disease","Neuroscience","Iron-binding proteins","Biology","Deferiprone","Genetics","Bioinformatics","Medicine","Gene","Thalassemia","Internal medicine","Allele","Iron chelators","R","Review","RS1-441","Pharmacy and materia medica","Friedreich Ataxia","Oxidative stress","Iron-sulfur"],"sdg_mappings":[{"sdg_number":2,"sdg_label":"2. 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