(Q34452330)

2 August 2017

title

Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia (English)

1 reference

2 August 2017

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9

Silke Leimkühler

1 reference

2 August 2017

Haiyan Xia

1

1 reference

2 August 2017

Yun Cao

2

1 reference

2 August 2017

Xiaoman Dai

3

1 reference

2 August 2017

Zvonimir Marelja

4

1 reference

2 August 2017

Di Zhou

5

1 reference

2 August 2017

Ran Mo

6

1 reference

2 August 2017

Sahar Al-Mahdawi

7

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2 August 2017

Mark A Pook

8

1 reference

2 August 2017

Tracey A Rouault

10

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2 August 2017

Kuanyu Li

11

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2 August 2017

language of work or name

English

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publication date

17 October 2012

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2 August 2017

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2 August 2017

volume

7

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2 August 2017

issue

10

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2 August 2017

page(s)

e47847

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Creative Commons CC0 License

2 August 2017

copyright license

start time

17 October 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3474739/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Is Friedreich ataxia an epigenetic disorder?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

A gene expression phenotype in lymphocytes from Friedreich ataxia patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

On improvement in ejection fraction with iron chelation in thalassemia major and the risk of future heart failure

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Overexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Friedreich's ataxia: past, present and future

6 July 2018

1 reference

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Friedreich's ataxia: pathology, pathogenesis, and molecular genetics

6 July 2018

1 reference

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

6 July 2018

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Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Normal and Friedreich Ataxia Cells Express Different Isoforms of Frataxin with Complementary Roles in Iron-Sulfur Cluster Assembly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Frataxin and mitochondrial FeS cluster biogenesis.

6 July 2018

1 reference

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Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model

6 July 2018

1 reference

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

6 July 2018

1 reference

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Friedreich ataxia: the clinical picture

6 July 2018

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

6 July 2018

1 reference

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A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

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

6 July 2018

1 reference

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Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia

6 July 2018

1 reference

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The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues

6 July 2018

1 reference

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In vivo maturation of human frataxin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

A pool of extramitochondrial frataxin that promotes cell survival

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Roles of the mammalian cytosolic cysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur cluster assembly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Mammalian tissue oxygen levels modulate iron-regulatory protein activities in vivo

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Genetic ablations of iron regulatory proteins 1 and 2 reveal why iron regulatory protein 2 dominates iron homeostasis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Frataxin activates mitochondrial energy conversion and oxidative phosphorylation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Targeting of a human iron-sulfur cluster assembly enzyme, nifs, to different subcellular compartments is regulated through alternative AUG utilization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Structural bases for the interaction of frataxin with the central components of iron-sulphur cluster assembly

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Variations of frataxin protein levels in normal individuals.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3474739

Rapamycin reduces oxidative stress in frataxin-deficient yeast cells

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23082224

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23082224

12 December 2020

inferred from PubMed ID database lookup

The iscS gene in Escherichia coli is required for the biosynthesis of 4-thiouridine, thiamin, and NAD

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23082224

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1371/JOURNAL.PONE.0047847

1 reference

2 August 2017

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2 August 2017

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