The pathogenesis of Friedreich ataxia and the structure and function of frataxin (Q37414028)

20 August 2017

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title

The pathogenesis of Friedreich ataxia and the structure and function of frataxin (English)

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20 August 2017

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2

Annalisa Pastore

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20 August 2017

Massimo Pandolfo

1

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PubMed ID

19283345

20 August 2017

language of work or name

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1 March 2009

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20 August 2017

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20 August 2017

256 Suppl 1

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20 August 2017

9-17

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https://scigraph.springernature.com/pub.10.1007/s00415-009-1003-2

20 August 2017

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cites work

Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells

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12 December 2020

Structure of frataxin iron cores: an X-ray absorption spectroscopic study

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12 December 2020

N-terminal iron-mediated self-cleavage of human frataxin: regulation of iron binding and complex formation with target proteins

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12 December 2020

Iron-sulfur cluster biosynthesis: characterization of Escherichia coli CYaY as an iron donor for the assembly of [2Fe-2S] clusters in the scaffold IscU.

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12 December 2020

The ferroxidase activity of yeast frataxin

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12 December 2020

In vivo maturation of human frataxin

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12 December 2020

A structural approach to understanding the iron-binding properties of phylogenetically different frataxins.

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12 December 2020

Human frataxin: iron and ferrochelatase binding surface.

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12 December 2020

Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction

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12 December 2020

Unbiased cold denaturation: low- and high-temperature unfolding of yeast frataxin under physiological conditions

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12 December 2020

Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity

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12 December 2020

Metallosensors, the ups and downs of gene regulation

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12 December 2020

Mitochondrial control of iron homeostasis. A genome wide analysis of gene expression in a yeast frataxin-deficient strain

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12 December 2020

The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle

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12 December 2020

Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues

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12 December 2020

Iron use for haeme synthesis is under control of the yeast frataxin homologue (Yfh1).

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12 December 2020

Yeast frataxin solution structure, iron binding, and ferrochelatase interaction.

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12 December 2020

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

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12 December 2020

Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria.

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12 December 2020

The structures of frataxin oligomers reveal the mechanism for the delivery and detoxification of iron.

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12 December 2020

Frataxin, a conserved mitochondrial protein, in the hydrogenosome of Trichomonas vaginalis

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12 December 2020

Structure of the hydrophilic domain of respiratory complex I from Thermus thermophilus

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12 December 2020

Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells.

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12 December 2020

Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis

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12 December 2020

Frataxin expression rescues mitochondrial dysfunctions in FRDA cells

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12 December 2020

Structure, function, and formation of biological iron-sulfur clusters

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12 December 2020

Transcription of the yeast iron regulon does not respond directly to iron but rather to iron-sulfur cluster biosynthesis.

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12 December 2020

A human mitochondrial ferritin encoded by an intronless gene

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12 December 2020

Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia

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12 December 2020

Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration

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12 December 2020

Mitochondrial functional interactions between frataxin and Isu1p, the iron-sulfur cluster scaffold protein, in Saccharomyces cerevisiae

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12 December 2020

Manganese superoxide dismutase induction by iron is impaired in Friedreich ataxia cells

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12 December 2020

Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

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12 December 2020

Assembly of human frataxin is a mechanism for detoxifying redox-active iron

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12 December 2020

Antioxidant enzymes in blood of patients with Friedreich's ataxia.

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12 December 2020

Oxidative stress and protease dysfunction in the yeast model of Friedreich ataxia

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12 December 2020

Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family

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12 December 2020

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

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12 December 2020

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

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12 December 2020

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

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12 December 2020

The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly

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12 December 2020

Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase

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12 December 2020

The factors governing the thermal stability of frataxin orthologues: how to increase a protein's stability

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12 December 2020

Friedreich ataxia: the oxidative stress paradox

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12 December 2020

Understanding the binding properties of an unusual metal-binding protein--a study of bacterial frataxin

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12 December 2020

Crystal structure of human frataxin

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12 December 2020

Solution Structure of the Bacterial Frataxin Ortholog, CyaY

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12 December 2020

Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins

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12 December 2020

Increased levels of plasma malondialdehyde in Friedreich ataxia

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12 December 2020

The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis

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12 December 2020

Dynamics, stability and iron-binding activity of frataxin clinical mutants

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12 December 2020

Conformational stability of human frataxin and effect of Friedreich's ataxia-related mutations on protein folding

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12 December 2020

Monomeric yeast frataxin is an iron-binding protein

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12 December 2020

The role of iron regulatory proteins in mammalian iron homeostasis and disease

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12 December 2020

Mapping iron binding sites on human frataxin: implications for cluster assembly on the ISU Fe-S cluster scaffold protein

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12 December 2020

Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.

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12 December 2020

Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin

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12 December 2020

An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1.

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12 December 2020

Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia

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12 December 2020

Aquisition, mobilization and utilization of cellular iron and heme: endless findings and growing evidence of tight regulation

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12 December 2020

Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain

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12 December 2020

Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia

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12 December 2020

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

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12 December 2020

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

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12 December 2020

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

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12 December 2020

Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia

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12 December 2020

Iron binding and oxidation kinetics in frataxin CyaY of Escherichia coli.

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12 December 2020

Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.

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12 December 2020

Iron-induced oligomerization of yeast frataxin homologue Yfh1 is dispensable in vivo

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12 December 2020

Oxidative stress in patients with Friedreich ataxia.

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12 December 2020

Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm

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12 December 2020

Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates

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12 December 2020

Acidic residues of yeast frataxin have an essential role in Fe-S cluster assembly

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12 December 2020

Yeast Frataxin Sequentially Chaperones and Stores Iron by Coupling Protein Assembly with Iron Oxidation

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12 December 2020

10.1007/S00415-009-1003-2

Identifiers

DOI

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20 August 2017

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PubMed ID

19283345