Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches. (Q37736127)

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1 February 2020

review article

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title

Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches (English)

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1 February 2020

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2

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1 February 2020

author name string

Stéphane Schmucker

series ordinal

1

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publication date

22 April 2010

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1 February 2020

published in

Human Molecular Genetics

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volume

19

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issue

R1

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1 February 2020

page(s)

R103-10

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Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

1 February 2020

cites work

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Frataxin gene point mutations in Italian Friedreich ataxia patients

21 January 2018

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Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo

21 January 2018

1 reference

DNA triplexes and Friedreich ataxia

21 January 2018

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

21 January 2018

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Structure-specific recognition of Friedreich's ataxia (GAA)n repeats by benzoquinoquinoxaline derivatives.

21 January 2018

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A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro

21 January 2018

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The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model

21 January 2018

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Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.

21 January 2018

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Heterochromatin: silence is golden.

21 January 2018

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

21 January 2018

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Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia

21 January 2018

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

21 January 2018

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

21 January 2018

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HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model

21 January 2018

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CTCF: master weaver of the genome

21 January 2018

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Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats

21 January 2018

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Recognition of the DNA minor groove by pyrrole-imidazole polyamides

21 January 2018

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DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats in Friedreich's ataxia

21 January 2018

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Small molecules affecting transcription in Friedreich ataxia

21 January 2018

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Remodeling chromatin and stress resistance in the central nervous system: histone deacetylase inhibitors as novel and broadly effective neuroprotective agents.

21 January 2018

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Recombinant human erythropoietin: effects on frataxin expression in vitro

21 January 2018

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

21 January 2018

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Components involved in assembly and dislocation of iron-sulfur clusters on the scaffold protein Isu1p

21 January 2018

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

21 January 2018

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Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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A non-essential function for yeast frataxin in iron-sulfur cluster assembly

21 January 2018

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Friedreich ataxia: the oxidative stress paradox

21 January 2018

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Antioxidant enzymes in blood of patients with Friedreich's ataxia.

21 January 2018

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The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia

21 January 2018

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

21 January 2018

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

21 January 2018

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Oxidative stress in patients with Friedreich ataxia.

21 January 2018

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Role of oxidative damage in Friedreich's ataxia

21 January 2018

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

21 January 2018

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Antioxidant use in Friedreich ataxia

21 January 2018

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The DNA repair helicases XPD and FancJ have essential iron-sulfur domains

21 January 2018

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

21 January 2018

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Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia

21 January 2018

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Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up

21 January 2018

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Drug Insight: antioxidant therapy in inherited ataxias

21 January 2018

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Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications

21 January 2018

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Selective iron chelation in Friedreich ataxia: biologic and clinical implications

21 January 2018

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In vivo maturation of human frataxin

21 January 2018

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

21 January 2018

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

21 January 2018

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A structural approach to understanding the iron-binding properties of phylogenetically different frataxins.

21 January 2018

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Monomeric yeast frataxin is an iron-binding protein

21 January 2018

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Crystal structure of human frataxin

21 January 2018

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

21 January 2018

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

21 January 2018

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Frataxin interacts functionally with mitochondrial electron transport chain proteins

21 January 2018

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

21 January 2018

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Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis

21 January 2018

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

21 January 2018

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

21 January 2018

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Iron-sulfur cluster biosynthesis: characterization of Escherichia coli CYaY as an iron donor for the assembly of [2Fe-2S] clusters in the scaffold IscU.

21 January 2018

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Oligomeric yeast frataxin drives assembly of core machinery for mitochondrial iron-sulfur cluster synthesis

21 January 2018

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Binding of yeast frataxin to the scaffold for Fe-S cluster biogenesis, Isu

21 January 2018

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Function and biogenesis of iron-sulphur proteins

21 January 2018

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Assembly of the iron-binding protein frataxin in Saccharomyces cerevisiae responds to dynamic changes in mitochondrial iron influx and stress level

21 January 2018

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The structures of frataxin oligomers reveal the mechanism for the delivery and detoxification of iron.

21 January 2018

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Iron-induced oligomerization of yeast frataxin homologue Yfh1 is dispensable in vivo

21 January 2018

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Iron-sulfur cluster biogenesis and human disease

21 January 2018

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Solution Structure of the Bacterial Frataxin Ortholog, CyaY

21 January 2018

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Safety, Tolerability, and Pharmacokinetics of High-Dose Idebenone in Patients With Friedreich Ataxia

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDQ165

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20413654 AND SRC:MED&resulttype=core&format=json

1 February 2020

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