Friedreich's ataxia is a mitochondrial disorder (Q36173065)

12 August 2017

Friedreich's ataxia is a mitochondrial disorder (English)

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12 August 2017

1 reference

J Kaplan

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PMC publication ID

34221

12 August 2017

language of work or name

English

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publication date

1 September 1999

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Proceedings of the National Academy of Sciences of the United States of America

12 August 2017

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12 August 2017

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12 August 2017

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12 August 2017

10948-10949

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

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

Mitochondrial disease in mouse results in increased oxidative stress

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

The ABC transporter Atm1p is required for mitochondrial iron homeostasis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=34221

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

23 September 2018

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12 December 2020

Frataxin gene of Friedreich's ataxia is targeted to mitochondria

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12 December 2020

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

1 reference

12 December 2020

Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.96.20.10948

1 reference

12 August 2017

0 references

1 reference

PMC publication ID

34221

12 August 2017

PubMed publication ID

10500103

1 reference

PMC publication ID

34221