(Q46904206)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28444186%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

title

Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28444186%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

author name string

Mittal J Jasoliya

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28444186%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Marissa Z McMackin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28444186%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Chelsea K Henderson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28444186%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Susan L Perlman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28444186%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Gino A Cortopassi

5

1 reference

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18 March 2020

publication date

1 July 2017

1 reference

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18 March 2020

published in

Human Molecular Genetics

1 reference

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18 March 2020

volume

26

1 reference

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18 March 2020

issue

14

1 reference

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18 March 2020

page(s)

2627-2633

1 reference

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

18 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

21 January 2018

1 reference

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Prevalence gradients of Friedreich's ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Animal and cellular models of Friedreich ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Gene expression profiling of mitochondrial oxidative phosphorylation (OXPHOS) complex I in Friedreich ataxia (FRDA) patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Impairing the bioenergetic status and the biogenesis of mitochondria triggers mitophagy in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Mitochondrial dysfunction in neurodegenerative diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Mitochondrial pathophysiology in Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Plasma circulating cell-free mitochondrial DNA in the assessment of Friedreich's ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

A chemical screen probing the relationship between mitochondrial content and cell size

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX141

A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich's ataxia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28444186

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28444186

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDX141

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28444186%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28444186%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

PubMed publication ID

28444186

1 reference