Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology (Q33525513)

27 July 2017

Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology (English)

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27 July 2017

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Joel N Meyer

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Alexandra Durr

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object named as

Alexandra Durr

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27 July 2017

Astrid C Haugen

1

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27 July 2017

Nicholas A Di Prospero

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27 July 2017

Joel S Parker

3

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27 July 2017

Rick D Fannin

4

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27 July 2017

Jeff Chou

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27 July 2017

Christopher Halweg

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27 July 2017

Jennifer B Collins

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27 July 2017

Kenneth Fischbeck

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27 July 2017

Bennett Van Houten

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27 July 2017

language of work or name

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15 January 2010

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27 July 2017

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27 July 2017

6

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27 July 2017

1

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27 July 2017

e1000812

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Creative Commons CC0 License

27 July 2017

start time

15 January 2010

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April 2022 Public Data File from Crossref

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copyrighted, dedicated to the public domain by copyright holder

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cites work

Mouse population-guided resequencing reveals that variants in CD44 contribute to acetaminophen-induced liver injury in humans

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

21 June 2018

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Maturation of iron-sulfur proteins in eukaryotes: mechanisms, connected processes, and diseases

21 June 2018

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Extracting gene expression patterns and identifying co-expressed genes from microarray data reveals biologically responsive processes.

21 June 2018

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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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Shut-down of translation, a global neuronal stress response: mechanisms and pathological relevance

21 June 2018

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Ubiquitin and ubiquitin-like proteins in protein regulation

21 June 2018

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Proteasome-independent functions of ubiquitin in endocytosis and signaling

21 June 2018

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A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis

21 June 2018

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

21 June 2018

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

21 June 2018

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Frataxin, iron-sulfur clusters, heme, ROS, and aging.

21 June 2018

1 reference

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Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity

21 June 2018

1 reference

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Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice

21 June 2018

1 reference

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Induction of oxidative metabolism by mitochondrial frataxin inhibits cancer growth: Otto Warburg revisited

21 June 2018

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Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

21 June 2018

1 reference

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Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia

21 June 2018

1 reference

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A role for iron-sulfur clusters in DNA repair

21 June 2018

1 reference

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Friedreich's ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts: a decrease in antioxidative capacity?

21 June 2018

1 reference

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Mitochondrial and nuclear DNA damage induced by 5-aminolevulinic acid.

21 June 2018

1 reference

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

21 June 2018

1 reference

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Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

DAVID: Database for Annotation, Visualization, and Integrated Discovery

21 June 2018

1 reference

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GoMiner: a resource for biological interpretation of genomic and proteomic data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

Breast cancer in two sisters with Friedreich's ataxia

21 June 2018

1 reference

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Significance analysis of microarrays applied to the ionizing radiation response

21 June 2018

1 reference

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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 June 2018

1 reference

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Oxidative stress in patients with Friedreich ataxia.

21 June 2018

1 reference

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Oxidants, oxidative stress and the biology of ageing

21 June 2018

1 reference

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Measuring gene-specific nucleotide excision repair in human cells using quantitative amplification of long targets from nanogram quantities of DNA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

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 June 2018

1 reference

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Cluster analysis and display of genome-wide expression patterns

21 June 2018

1 reference

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Preferential mitochondrial DNA injury caused by glucose oxidase as a steady generator of hydrogen peroxide in human fibroblasts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

Real time quantitative PCR

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

Primary small bowel ganglioneuroblastoma and Friedreich's ataxia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799513

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

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

Reduction in frataxin causes progressive accumulation of mitochondrial damage.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

Role of oxidative damage in Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

Friedreich ataxia: the oxidative stress paradox

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

Identification of a gene expression profile that discriminates indirect-acting genotoxins from direct-acting genotoxins

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

Cell sorting experiments link persistent mitochondrial DNA damage with loss of mitochondrial membrane potential and apoptotic cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

3-nitropropionic acid-induced hydrogen peroxide, mitochondrial DNA damage, and cell death are attenuated by Bcl-2 overexpression in PC12 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

DNA damage in brain mitochondria caused by aging and MPTP treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

An iron-sulfur domain of the eukaryotic primase is essential for RNA primer synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

Mitochondrial impairment of human muscle in Friedreich ataxia in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000812

International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome

21 January 2018

1 reference

12 December 2020

Quantitative PCR-based measurement of nuclear and mitochondrial DNA damage and repair in mammalian cells

1 reference

12 December 2020

Urinary isoprostanes in Friedreich ataxia: lack of correlation with disease features

1 reference

12 December 2020

Friedreich's ataxia and intrathecal chemotherapy in a patient with lymphoblastic lymphoma

1 reference

12 December 2020

Increased levels of plasma malondialdehyde in Friedreich ataxia

1 reference

12 December 2020

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

1 reference

12 December 2020

Increased sensitivity to gamma irradiation of skin fibroblasts in Friedreich's ataxia

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutagen hypersensitivity in Friedreich's ataxia

1 reference

12 December 2020

Gastric carcinoma in siblings with Friedreich's ataxia

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1000812

Identifiers

DOI

1 reference

27 July 2017

1 reference

27 July 2017

1 reference