The Role of Iron in Friedreich's Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models (Q64040115)

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27 April 2020

title

The Role of Iron in Friedreich's Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models (English)

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27 April 2020

author name string

José Vicente Llorens

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27 April 2020

Pablo Calap-Quintana

3

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27 April 2020

Pilar Gonzalez-Cabo

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27 April 2020

María Dolores Moltó

5

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27 April 2020

language of work or name

English

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publication date

18 February 2019

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Frontiers in Neuroscience

27 April 2020

published in

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volume

13

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page(s)

75

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Creative Commons Attribution 4.0 International

27 April 2020

copyright license

start time

18 February 2019

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Pathology of the Heart in Friedreich's Ataxia: Review of the Literature and Report of One Case

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12 December 2020

Plasma Lipids and Lipoproteins in Friedreich's Ataxia and Familial Spastic Ataxia — Evidence for an Abnormal Composition of High Density Lipoproteins

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12 December 2020

Regional distribution of iron and iron-regulatory proteins in the brain in aging and Alzheimer's disease

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12 December 2020

Biosynthesis of phenolic glycolipids in M. microti

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12 December 2020

The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases

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12 December 2020

Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia

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12 December 2020

Plasma lipoprotein concentration and erythrocyte membrane lipids in patients with Friedreich's ataxia

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12 December 2020

Increased iron-related MRI contrast in the substantia nigra in Parkinson's disease

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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

Tissue-specific regulation of iron metabolism and heme synthesis: distinct control mechanisms in erythroid 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

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

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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

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

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12 December 2020

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

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12 December 2020

Mt-Hsp70 homolog, Ssc2p, required for maturation of yeast frataxin and mitochondrial iron homeostasis

1 reference

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

Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia

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12 December 2020

Increased iron in the dentate nucleus of patients with Friedrich's ataxia

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12 December 2020

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

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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

Crystal structure of human frataxin

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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

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients

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12 December 2020

Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.

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12 December 2020

Oxidative stress in patients with Friedreich ataxia.

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12 December 2020

Increased levels of plasma malondialdehyde in Friedreich 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

1 reference

12 December 2020

The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis

1 reference

12 December 2020

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

1 reference

12 December 2020

Frataxin expression rescues mitochondrial dysfunctions in FRDA cells

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12 December 2020

Molecular bases of cellular iron toxicity

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12 December 2020

Erythroid differentiation and protoporphyrin IX down-regulate frataxin expression in Friend cells: characterization of frataxin expression compared to molecules involved in iron metabolism and hemoglobinization

1 reference

12 December 2020

Physical evidence that yeast frataxin is an iron storage protein

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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

The ferroxidase activity of yeast frataxin

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12 December 2020

The labile iron pool: characterization, measurement, and participation in cellular processes(1).

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12 December 2020

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

1 reference

12 December 2020

DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity

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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

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

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12 December 2020

Iron trafficking in the mitochondrion: novel pathways revealed by disease.

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12 December 2020

Friedreich's ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts: a decrease in antioxidative capacity?

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12 December 2020

Friedreich ataxia: the oxidative stress paradox

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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

Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia

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12 December 2020

Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2.

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12 December 2020

RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila

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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

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

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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

A pool of extramitochondrial frataxin that promotes cell survival

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12 December 2020

Monomeric yeast frataxin is an iron-binding protein

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12 December 2020

Iron-sulfur protein biogenesis in eukaryotes: components and mechanisms

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12 December 2020

The structure and function of frataxin

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12 December 2020

Modern diagnosis and management of the porphyrias

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12 December 2020

Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts

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12 December 2020

Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia

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12 December 2020

Causative role of oxidative stress in a Drosophila model of Friedreich ataxia.

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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

Knockout of frataxin gene causes embryo lethality in Arabidopsis

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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

The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteins

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12 December 2020

In vivo maturation of human frataxin

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12 December 2020

Partial conservation of functions between eukaryotic frataxin and the Escherichia coli frataxin homolog CyaY.

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12 December 2020

Heme as a magnificent molecule with multiple missions: heme determines its own fate and governs cellular homeostasis

1 reference

12 December 2020

Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications

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12 December 2020

Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia

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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

The MCK mouse heart model of Friedreich's ataxia: Alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation

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12 December 2020

The longitudinal course of cardiomyopathy in Friedreich's ataxia during childhood

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12 December 2020

Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation

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12 December 2020

Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia

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12 December 2020

Nitric oxide accumulation is required to protect against iron-mediated oxidative stress in frataxin-deficient Arabidopsis plants

1 reference

12 December 2020

Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia

1 reference

12 December 2020

The pathogenesis of Friedreich ataxia and the structure and function of frataxin

1 reference

12 December 2020

Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS

1 reference

12 December 2020

Function and biogenesis of iron-sulphur proteins

1 reference

12 December 2020

The dorsal root ganglion in Friedreich's ataxia

1 reference

12 December 2020

Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant

1 reference

12 December 2020

Iron Chelators as Potential Therapeutic Agents for Parkinson's Disease

1 reference

12 December 2020

Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin

1 reference

12 December 2020

Altered lipid metabolism in a Drosophila model of Friedreich's ataxia.

1 reference

12 December 2020

Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia

1 reference

12 December 2020

Building Fe-S proteins: bacterial strategies.

1 reference

12 December 2020

Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol

1 reference

12 December 2020

Is Prevalence of Retinopathy Related to the Age of Onset of Diabetes? Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetic Report No. 5

1 reference

12 December 2020

Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxia

1 reference

12 December 2020

Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex

1 reference

12 December 2020

Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome

1 reference

12 December 2020

Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

1 reference

12 December 2020

Mitochondrial mayhem: the mitochondrion as a modulator of iron metabolism and its role in disease

1 reference

12 December 2020

Friedreich's ataxia: past, present and future

1 reference

12 December 2020

Oxidative stress does not appear to be involved in the aetiology of Friedreich's ataxia

1 reference

12 December 2020

Structure–Function Analysis of Friedreich’s Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe–S Assembly Complex

1 reference

12 December 2020

Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation.

1 reference

12 December 2020

Effector role reversal during evolution: the case of frataxin in Fe-S cluster biosynthesis

1 reference

12 December 2020

Heme metabolism and erythropoiesis

1 reference

12 December 2020

Is Friedreich ataxia an epigenetic disorder?

1 reference

12 December 2020

Elevated brain iron is independent from atrophy in Huntington's Disease

1 reference

12 December 2020

Friedreich's ataxia causes redistribution of iron, copper, and zinc in the dentate nucleus

1 reference

12 December 2020

Ferroptosis: an iron-dependent form of nonapoptotic cell death

1 reference

12 December 2020

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

1 reference

12 December 2020

Cardiomyopathy in Friedreich ataxia: clinical findings and research

1 reference

12 December 2020

Sphingolipid signaling mediates iron toxicity

1 reference

12 December 2020

A role for iron-sulfur clusters in the regulation of transcription factor Yap5-dependent high iron transcriptional responses in yeast

1 reference

12 December 2020

Relation of cytosolic iron excess to cardiomyopathy of Friedreich's ataxia

1 reference

12 December 2020

Identification of nonferritin mitochondrial iron deposits in a mouse model of Friedreich ataxia

1 reference

12 December 2020

Autophagy induction extends lifespan and reduces lipid content in response to frataxin silencing in C. elegans

1 reference

12 December 2020

Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly

1 reference

12 December 2020

Friedreich ataxia: neuropathology revised

1 reference

12 December 2020

Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model

1 reference

12 December 2020

Erythroid heme biosynthesis and its disorders

1 reference

12 December 2020

Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich's ataxia

1 reference

12 December 2020

Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons

1 reference

12 December 2020

Nikolaus Friedreich and degenerative atrophy of the dorsal columns of the spinal cord

1 reference

12 December 2020

Prevalence gradients of Friedreich's ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge

1 reference

12 December 2020

Mitochondrial pathophysiology in Friedreich's ataxia

1 reference

12 December 2020

Cardiomyopathy of Friedreich ataxia

1 reference

12 December 2020

Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

1 reference

12 December 2020

Molecular and functional alterations in a mouse cardiac model of Friedreich ataxia: activation of the integrated stress response, eIF2α phosphorylation, and the induction of downstream targets.

1 reference

12 December 2020

His86 from the N-terminus of frataxin coordinates iron and is required for Fe-S cluster synthesis

1 reference

12 December 2020

Methylene blue rescues heart defects in a Drosophila model of Friedreich's ataxia.

1 reference

12 December 2020

Structural imaging differences and longitudinal changes in primary lateral sclerosis and amyotrophic lateral sclerosis

1 reference

12 December 2020

Frataxin directly stimulates mitochondrial cysteine desulfurase by exposing substrate-binding sites, and a mutant Fe-S cluster scaffold protein with frataxin-bypassing ability acts similarly

1 reference

12 December 2020

Apoptotic cell death and altered calcium homeostasis caused by frataxin depletion in dorsal root ganglia neurons can be prevented by BH4 domain of Bcl-xL protein

1 reference

12 December 2020

Friedreich ataxia: metal dysmetabolism in dorsal root ganglia

1 reference

12 December 2020

Regional siderosis: a new challenge for iron chelation therapy

1 reference

12 December 2020

Mammalian Fe-S cluster biogenesis and its implication in disease.

1 reference

12 December 2020

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia

1 reference

12 December 2020

Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis

1 reference

12 December 2020

Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism

1 reference

12 December 2020

Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia

1 reference

12 December 2020

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism

1 reference

12 December 2020

Heme and erythropoieis: more than a structural role.

1 reference

12 December 2020

Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.

1 reference

12 December 2020

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

1 reference

12 December 2020

Inhibition of neuronal cell mitochondrial complex I with rotenone increases lipid β-oxidation, supporting acetyl-coenzyme A levels

1 reference

12 December 2020

Cerebellar pathology in Friedreich's ataxia: atrophied dentate nuclei with normal iron content.

1 reference

12 December 2020

Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia

1 reference

12 December 2020

Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.

1 reference

12 December 2020

Cellular iron uptake, trafficking and metabolism: Key molecules and mechanisms and their roles in disease

1 reference

12 December 2020

The pathogenesis of cardiomyopathy in Friedreich ataxia.

1 reference

12 December 2020

The deferiprone and deferasirox combination is efficacious in iron overloaded patients with β-thalassemia major: A prospective, single center, open-label study

1 reference

12 December 2020

Mitoferrin modulates iron toxicity in a Drosophila model of Friedreich's ataxia.

1 reference

12 December 2020

Frataxin Accelerates [2Fe-2S] Cluster Formation on the Human Fe-S Assembly Complex

1 reference

12 December 2020

The novel mitochondrial iron chelator 5-((methylamino)methyl)-8-hydroxyquinoline protects against mitochondrial-induced oxidative damage and neuronal death.

1 reference

12 December 2020

The role of mitochondria and the CIA machinery in the maturation of cytosolic and nuclear iron-sulfur proteins

1 reference

12 December 2020

Frataxin Is Localized to Both the Chloroplast and Mitochondrion and Is Involved in Chloroplast Fe-S Protein Function in Arabidopsis

1 reference

12 December 2020

Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA.

1 reference

12 December 2020

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia

1 reference

12 December 2020

Role of iron in neurodegenerative diseases

1 reference

12 December 2020

Gene Transfer of Brain-derived Neurotrophic Factor (BDNF) Prevents Neurodegeneration Triggered by FXN Deficiency

1 reference

12 December 2020

Tissue atrophy and elevated iron concentration in the extrapyramidal motor system in Friedreich ataxia: the IMAGE-FRDA study

1 reference

12 December 2020

Clinical Experience With Deferiprone Treatment for Friedreich Ataxia

1 reference

12 December 2020

Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia

1 reference

12 December 2020

Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation

1 reference

12 December 2020

Abundance and Significance of Iron, Zinc, Copper, and Calcium in the Hearts of Patients With Friedreich Ataxia

1 reference

12 December 2020

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay

1 reference

12 December 2020

Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.

1 reference

12 December 2020

Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease

1 reference

12 December 2020

Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.

1 reference

12 December 2020

The mitochondrial acyl carrier protein (ACP) coordinates mitochondrial fatty acid synthesis with iron sulfur cluster biogenesis

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12 December 2020

Loss of Frataxin activates the iron/sphingolipid/PDK1/Mef2 pathway in mammals

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12 December 2020

Translating HDAC inhibitors in Friedreich's ataxia.

1 reference

12 December 2020

Pharmacological therapeutics in Friedreich ataxia: the present state

1 reference

12 December 2020

Cerebral Abnormalities in Friedreich Ataxia: A Review.

1 reference

12 December 2020

Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R Mice.

1 reference

12 December 2020

Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia

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12 December 2020

Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.

1 reference

12 December 2020

The role of oxidative stress in Friedreich's ataxia

1 reference

12 December 2020

Iron-induced oligomerization of human FXN81-210 and bacterial CyaY frataxin and the effect of iron chelators.

1 reference

12 December 2020

Development of an iron-selective antioxidant probe with protective effects on neuronal function.

1 reference

12 December 2020

Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia

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12 December 2020

Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model of Friedreich's Ataxia

1 reference

12 December 2020

Interactions of iron-bound frataxin with ISCU and ferredoxin on the cysteine desulfurase complex leading to Fe-S cluster assembly.

1 reference

12 December 2020

Drosophila melanogaster Models of Friedreich's Ataxia.

1 reference

12 December 2020

Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia

1 reference

12 December 2020

Impact of Models in the Study and Treatment of Friedreich's Ataxia

1 reference

12 December 2020

Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?

1 reference

12 December 2020

A review on iron chelators as potential therapeutic agents for the treatment of Alzheimer's and Parkinson's diseases

1 reference

12 December 2020

Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes

1 reference

12 December 2020

Identifiers

DOI

10.3389/FNINS.2019.00075

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30833885 AND SRC:MED&resulttype=core&format=json

27 April 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30833885 AND SRC:MED&resulttype=core&format=json

27 April 2020

PubMed publication ID

30833885

1 reference