title: Frataxin: a protein in search for a function.
abstract: Reduced levels of the protein frataxin cause the neurodegenerative disease Friedreich's ataxia. Pathology is associated with disruption of iron-sulfur cluster biosynthesis, mitochondrial iron overload, and oxidative stress. Frataxin is a highly conserved iron-binding protein present in most organisms. Despite the intense interest generated since the determination of its pathology, identification of the cellular function of frataxin has so far remained elusive. In this review, we revisit the most significant milestones that have led us to our current understanding of frataxin and its functions. The picture that emerges is that frataxin is a crucial element of one of the most essential cellular machines specialized in iron-sulfur cluster biogenesis. Future developments, therefore, can be expected from further advancements in our comprehension of this machine.
authors.affiliation: MRC National Institute for Medical Research, London, UK. apastor@nimr.mrc.ac.uk
authors.forename: Annalisa
authors.initials: A
authors.lastname: Pastore
authors.forename: Helene
authors.initials: H
authors.lastname: Puccio
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D006801:Humans; D007501:Iron / Q000378:metabolism; D033862:Iron-Binding Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D008928:Mitochondria / Q000378:metabolism; D018832:Molecular Chaperones / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics / Q000502:physiology; D011487:Protein Conformation; D013455:Sulfur / Q000378:metabolism; D000096923:Frataxin
chemical_list: D007501:Iron; D033862:Iron-Binding Proteins; D018832:Molecular Chaperones; D013455:Sulfur; D000096923:Frataxin
keywords: Friedreich's ataxia; iron metabolism; mitochondria; oxidative stress