(Q33527398)

27 July 2017

title

Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency (English)

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27 July 2017

1 reference

Francesc Palau

3

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author name string

Pilar Gonzalez-Cabo

series ordinal

1

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27 July 2017

Sheila Ros

series ordinal

2

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27 July 2017

language of work or name

English

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publication date

25 January 2010

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27 July 2017

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27 July 2017

volume

5

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27 July 2017

issue

1

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27 July 2017

page(s)

e8872

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Creative Commons Attribution 4.0 International

27 July 2017

copyright license

start time

25 January 2010

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model

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Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial

21 June 2018

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Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia.

21 June 2018

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Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.

21 June 2018

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The monocarboxylate transporter homolog Mch5p catalyzes riboflavin (vitamin B2) uptake in Saccharomyces cerevisiae

21 June 2018

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Frataxin interacts functionally with mitochondrial electron transport chain proteins

21 June 2018

1 reference

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

21 June 2018

1 reference

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

21 June 2018

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Riboflavin uptake and FAD synthesis in Saccharomyces cerevisiae mitochondria: involvement of the Flx1p carrier in FAD export

21 June 2018

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Function and structure of complex II of the respiratory chain

21 June 2018

1 reference

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

21 June 2018

1 reference

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

21 June 2018

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Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring

21 June 2018

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Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia

21 June 2018

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Control of mitochondrial beta-oxidation flux

21 June 2018

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Development of lipophilic cations as therapies for disorders due to mitochondrial dysfunction

21 June 2018

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Treatment of mitochondrial cytopathies

21 June 2018

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Frataxin activates mitochondrial energy conversion and oxidative phosphorylation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

21 June 2018

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

21 June 2018

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

21 June 2018

1 reference

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

21 June 2018

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Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin

21 June 2018

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Clinical and genetic abnormalities in patients with Friedreich's ataxia

21 June 2018

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

21 June 2018

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Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies.

21 June 2018

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The genetics of Caenorhabditis elegans

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

Riboflavin-responsive defects of beta-oxidation

21 June 2018

1 reference

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Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult.

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

Selective iron chelation in Friedreich ataxia: biologic and clinical implications.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

Effects of riboflavin in children with complex II deficiency.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

Mitochondria-targeted antioxidants protect Friedreich Ataxia fibroblasts from endogenous oxidative stress more effectively than untargeted antioxidants.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

Development of potential iron chelators for the treatment of Friedreich's ataxia: ligands that mobilize mitochondrial iron

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

Idebenone in patients with Friedreich ataxia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810331

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

31 October 2018

1 reference

12 December 2020

Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis

1 reference

12 December 2020

Treatment of complex I deficiency with riboflavin

1 reference

12 December 2020

Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency

1 reference

12 December 2020

Riboflavin-responsive complex I deficiency

1 reference

12 December 2020

Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase

1 reference

12 December 2020

Isolation of highly purified mitochondria from Saccharomyces cerevisiae

1 reference

12 December 2020

Frataxin gene of Friedreich's ataxia is targeted to mitochondria

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

[Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin]

1 reference

12 December 2020

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

1 reference

12 December 2020

Breaking the silence in Friedreich's ataxia

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0008872

Identifiers

DOI

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27 July 2017

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27 July 2017

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