(Q47104232)

English

Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.

scientific article published in November 2017

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29125828%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers (English)

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1 April 2020

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Friedreich ataxia

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Jill Sergesketter Napierala

1

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1 April 2020

3

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1 April 2020

Marek Napierala

7

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1 April 2020

author name string

Yanjie Li

2

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1 April 2020

Kevin Lin

4

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1 April 2020

Lauren A Hauser

5

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1 April 2020

David R Lynch

6

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1 April 2020

publication date

1 November 2017

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1 April 2020

Disease Models & Mechanisms

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1 April 2020

10

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1 April 2020

11

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1 April 2020

1353-1369

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1 April 2020

copyright license

Creative Commons Attribution 3.0 Unported

5 September 2020

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April 2022 Public Data File from Crossref

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DESeq

1 reference

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

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23 May 2018

PANTHER version 11: expanded annotation data from Gene Ontology and Reactome pathways, and data analysis tool enhancements

1 reference

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23 May 2018

Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia.

1 reference

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23 May 2018

'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'.

1 reference

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23 May 2018

Enrichr: a comprehensive gene set enrichment analysis web server 2016 update

1 reference

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23 May 2018

Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia

1 reference

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23 May 2018

Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example

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The Reactome pathway Knowledgebase

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23 May 2018

PANTHER version 10: expanded protein families and functions, and analysis tools.

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23 May 2018

Peroxiredoxin 6 Is a Crucial Factor in the Initial Step of Mitochondrial Clearance and Is Upstream of the PINK1-Parkin Pathway

1 reference

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23 May 2018

Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus

1 reference

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23 May 2018

Frataxin levels in peripheral tissue in Friedreich ataxia

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Critical role of peroxiredoxin 6 in the repair of peroxidized cell membranes following oxidative stress

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23 May 2018

Thiol redox homeostasis in neurodegenerative disease

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23 May 2018

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

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23 May 2018

Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.

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23 May 2018

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

1 reference

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23 May 2018

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy

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23 May 2018

Cerebellar pathology in Friedreich's ataxia: atrophied dentate nuclei with normal iron content.

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23 May 2018

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

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23 May 2018

Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model

1 reference

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23 May 2018

Friedreich's ataxia causes redistribution of iron, copper, and zinc in the dentate nucleus

1 reference

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23 May 2018

A gene expression phenotype in lymphocytes from Friedreich ataxia patients

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23 May 2018

SLC6 neurotransmitter transporters: structure, function, and regulation

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23 May 2018

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23 May 2018

A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia

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23 May 2018

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

1 reference

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23 May 2018

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

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23 May 2018

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23 May 2018

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23 May 2018

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23 May 2018

Friedreich ataxia: an overview

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23 May 2018

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

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23 May 2018

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

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23 May 2018

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

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FXN methylation predicts expression and clinical outcome in Friedreich ataxia.

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15 August 2018

Auditory perception in individuals with Friedreich's ataxia.

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15 August 2018

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

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15 August 2018

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

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12 December 2020

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Mammalian Brain-specific L-Proline Transporter

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Deficiency of Arabidopsis thaliana frataxin alters activity of mitochondrial Fe-S proteins and induces oxidative stress

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Catastrophic visual loss in a patient with Friedreich ataxia

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12 December 2020

based on heuristic

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Identifiers

10.1242/DMM.030536

1 reference

Europe PubMed Central

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1 April 2020

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