(Q38160224)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194977%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

review article

0 references

title

Friedreich's ataxia, frataxin, PIP5K1B: echo of a distant fracas (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194977%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

7 references

24 March 2019

22 April 2019

25 April 2019

7 August 2019

28 September 2019

28 November 2019

17 December 2019

spinocerebellar degenerations

1 reference

7 August 2019

1 reference

28 September 2019

1 reference

28 November 2019

1 reference

17 December 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194977%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Pierre Rustin

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194977%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

publication date

30 September 2013

8 references

24 March 2019

22 April 2019

25 April 2019

7 August 2019

28 September 2019

28 November 2019

17 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194977%20AND%20SRC:MED&resulttype=core&format=json

Oxidative medicine and cellular longevity

29 February 2020

published in

8 references

24 March 2019

22 April 2019

25 April 2019

7 August 2019

28 September 2019

28 November 2019

17 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194977%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194977%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

725635

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194977%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 3.0 Unported

29 February 2020

copyright license

7 references

24 March 2019

22 April 2019

25 April 2019

7 August 2019

28 September 2019

28 November 2019

on focus list of Wikimedia project

17 December 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

The role of mitochondria in cellular iron-sulfur protein biogenesis: mechanisms, connected processes, and diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

A mitochondrial bioenergetic etiology of disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Iron-sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Therapeutic developments in Friedreich ataxia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Fumarate hydratase inactivation in renal tumors: HIF1α, NRF2, and "cryptic targets" of transcription factors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Estrogen prevents oxidative damage to the mitochondria in Friedreich's ataxia skin fibroblasts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Epigenetics in nucleotide repeat expansion disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Initial experience in the treatment of inherited mitochondrial disease with EPI-743.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Friedreich's ataxia: the vicious circle hypothesis revisited

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Estrogen protection in Friedreich's ataxia skin fibroblasts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

The dual effect of Rac2 on phospholipase D2 regulation that explains both the onset and termination of chemotaxis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Epigenetic changes and non-coding expanded repeats

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Small molecules affecting transcription in Friedreich ataxia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

The use of antioxidants in Friedreich's ataxia treatment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Clinical and genetic abnormalities in patients with Friedreich's ataxia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Rac1 and calmodulin interactions modulate dynamics of ARF6-dependent endocytosis.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

EGFR-activated signaling and actin remodeling regulate cyclic stretch-induced NRF2-ARE activation

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806116

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

31 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2013%2F725635

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2013%2F725635

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

21 January 2018

1 reference

12 December 2020

Manganese superoxide dismutase induction by iron is impaired in Friedreich ataxia cells

1 reference

12 December 2020

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

1 reference

12 December 2020

1 reference

12 December 2020

Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron-induced injury in vitro

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1155/2013/725635

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194977%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194977%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24194977%20AND%20SRC:MED&resulttype=core&format=json