(Q33743762)

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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

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Europe PubMed Central

29 July 2017

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology (English)

1 reference

Europe PubMed Central

29 July 2017

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Friedreich ataxia

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author name string

Sahar Al-Mahdawi

1

1 reference

Europe PubMed Central

29 July 2017

Ricardo Mouro Pinto

2

1 reference

Europe PubMed Central

29 July 2017

Dhaval Varshney

3

1 reference

Europe PubMed Central

29 July 2017

Lorraine Lawrence

4

1 reference

Europe PubMed Central

29 July 2017

Margaret B Lowrie

5

1 reference

Europe PubMed Central

29 July 2017

Sian Hughes

6

1 reference

Europe PubMed Central

29 July 2017

Zoe Webster

7

1 reference

Europe PubMed Central

29 July 2017

Julian Blake

8

1 reference

Europe PubMed Central

29 July 2017

J Mark Cooper

9

1 reference

Europe PubMed Central

29 July 2017

Rosalind King

10

1 reference

Europe PubMed Central

29 July 2017

Mark A Pook

11

1 reference

Europe PubMed Central

29 July 2017

publication date

17 August 2006

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

88

1 reference

Europe PubMed Central

29 July 2017

5

1 reference

Europe PubMed Central

29 July 2017

580-590

1 reference

Europe PubMed Central

29 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

Frataxin interacts functionally with mitochondrial electron transport chain proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

Friedreich ataxia-update on pathogenesis and possible therapies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

The molecular basis of Friedreich ataxia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

28 July 2018

Friedreich ataxia: the oxidative stress paradox

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

30 October 2018

GAA repeat instability in Friedreich ataxia YAC transgenic mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

30 October 2018

Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

30 October 2018

Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

30 October 2018

Mitochondria-targeted antioxidants protect Friedreich Ataxia fibroblasts from endogenous oxidative stress more effectively than untargeted antioxidants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

30 October 2018

Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

30 October 2018

Development of potential iron chelators for the treatment of Friedreich's ataxia: ligands that mobilize mitochondrial iron

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

30 October 2018

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842930

30 October 2018

Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.06.015

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.06.015

7 January 2021

Frataxin knockin mouse

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.06.015

7 January 2021

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.06.015

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.06.015

7 January 2021

Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.06.015

7 January 2021

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.06.015

7 January 2021

Very late onset Friedreich's presenting as spastic tetraparesis without ataxia or neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.06.015

7 January 2021

Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.06.015

7 January 2021

Atypical Friedreich ataxia with a very late onset and an unusual limited GAA repeat

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.06.015

7 January 2021

The relationship between plasma triglycerides, cholesterol, total lipids and lipid peroxidation products during human atherosclerosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2006.06.015

7 January 2021

Identifiers

10.1016/J.YGENO.2006.06.015

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

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