(Q28475804)

2

Stéphane

Schmucker

1 reference

20 October 2023

Marie Wattenhofer-Donzé

3

Marie

Wattenhofer-Donzé

1 reference

20 October 2023

Alain Martelli

4

Alain

Martelli

1 reference

20 October 2023

Nadège Vaucamps

5

Nadège

Vaucamps

1 reference

20 October 2023

Laurence Reutenauer

6

Laurence

Reutenauer

1 reference

20 October 2023

Cécile Bouton

8

Cécile

Bouton

1 reference

20 October 2023

Michel Koenig

9

Michel

Koenig

1 reference

20 October 2023

Hélène Puccio

10

Hélène

Creative Commons Attribution 4.0 International

Puccio

1 reference

20 October 2023

language of work or name

English

0 references

publication date

24 July 2009

0 references

published in

PLOS One

0 references

volume

4

0 references

issue

7

0 references

page(s)

e6379

0 references

copyright license

start time

24 July 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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1 reference

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

19 March 2017

1 reference

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

19 March 2017

1 reference

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The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin

19 March 2017

1 reference

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Iron-sulfur protein maturation in human cells: evidence for a function of frataxin

19 March 2017

1 reference

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

19 March 2017

1 reference

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Iron regulatory proteins and the molecular control of mammalian iron metabolism

19 March 2017

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19 March 2017

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

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710521

Crystal structure of human frataxin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710521

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710521

The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene

19 March 2017

1 reference

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

19 March 2017

1 reference

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

19 March 2017

1 reference

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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

19 March 2017

1 reference

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

19 March 2017

1 reference

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Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710521

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710521

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710521

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

19 March 2017

1 reference

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Multicellular models of Friedreich ataxia.

19 March 2017

1 reference

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

29 September 2017

1 reference

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The in vivo mitochondrial two-step maturation of human frataxin.

29 September 2017

1 reference

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

29 September 2017

1 reference

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Frataxin gene point mutations in Italian Friedreich ataxia patients

29 September 2017

1 reference

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

29 September 2017

1 reference

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Long-lived C. elegans mitochondrial mutants as a model for human mitochondrial-associated diseases

29 September 2017

1 reference

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The essential vertebrate ABCE1 protein interacts with eukaryotic initiation factors

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710521

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

29 September 2017

1 reference

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Human DNA glycosylases involved in the repair of oxidatively damaged DNA.

29 September 2017

1 reference

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Frataxin expression rescues mitochondrial dysfunctions in FRDA cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710521

Control of transferrin receptor expression via nitric oxide-mediated modulation of iron-regulatory protein 2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710521

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710521

Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up

29 September 2017

1 reference

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710521

A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710521

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710521

Friedreich ataxia: the oxidative stress paradox

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006379

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006379

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006379

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006379

Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006379

Increased IRP1 activity in Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006379

An iron-sulfur domain of the eukaryotic primase is essential for RNA primer synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006379

Intrafamilial Phenotypic Variability in Friedreich Ataxia Associated With a G130V Mutation in the FRDA Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006379

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006379

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

21 January 2018

1 reference

12 December 2020

Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription

1 reference

12 December 2020

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis

1 reference

12 December 2020

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

1 reference

12 December 2020

The role of enzyme variants, polymorphisms and enzyme hybrids in enzyme deficiency conditions

1 reference

12 December 2020

Characterization of the selenium-substituted 2 [4Fe-4Se] ferredoxin from Clostridium pasteurianum

1 reference

12 December 2020

Avian glutamine phosphoribosylpyrophosphate amidotransferase propeptide processing and activity are dependent upon essential cysteine residues

1 reference

12 December 2020

Deficiency of Arabidopsis thaliana frataxin alters activity of mitochondrial Fe-S proteins and induces oxidative stress

1 reference

12 December 2020

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

1 reference

12 December 2020

Analysis of gene-specific DNA damage and repair using quantitative polymerase chain reaction

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0006379

Identifiers

DOI

1 reference

release_g3spodmgnnd4dgwzqexqqlhoju

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/g3spodmgnnd4dgwzqexqqlhoju

24 November 2022

mapped directly with Wikidata item

2140898

1 reference

1 reference

1 reference