(Q34989407)

5 August 2017

title

Cardiomyopathy of Friedreich's ataxia: use of mouse models to understand human disease and guide therapeutic development (English)

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5 August 2017

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R Mark Payne

1

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5 August 2017

P Melanie Pride

series ordinal

2

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5 August 2017

Clifford M Babbey

series ordinal

3

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5 August 2017

publication date

1 March 2011

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5 August 2017

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5 August 2017

volume

32

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5 August 2017

issue

3

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5 August 2017

page(s)

366-378

1 reference

https://scigraph.springernature.com/pub.10.1007/s00246-011-9943-6

5 August 2017

exact match

0 references

cites work

Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome

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TAT fusion protein transduction into isolated mitochondria is accelerated by sodium channel inhibitors

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Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia.

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Frataxin and mitochondrial FeS cluster biogenesis.

8 July 2018

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Friedreich's ataxia cardiomyopathy: case based discussion and management issues.

8 July 2018

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The ins and outs of mitochondrial iron-loading: the metabolic defect in Friedreich's ataxia.

8 July 2018

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Antioxidants and other pharmacological treatments for Friedreich ataxia

8 July 2018

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Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant

8 July 2018

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

8 July 2018

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The longitudinal course of cardiomyopathy in Friedreich's ataxia during childhood

8 July 2018

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The MCK mouse heart model of Friedreich's ataxia: Alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation

8 July 2018

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HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model

8 July 2018

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Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia

8 July 2018

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8 July 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

8 July 2018

1 reference

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Carvedilol for children and adolescents with heart failure: a randomized controlled trial.

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

The evidence basis for coenzyme Q therapy in oxidative phosphorylation disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

In vivo maturation of human frataxin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

TAT-mediated protein transduction: delivering biologically active proteins to the heart

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

A novel TAT-mitochondrial signal sequence fusion protein is processed, stays in mitochondria, and crosses the placenta

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Cytoplasmic delivery and nuclear targeting of synthetic macromolecules

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Friedreich's ataxia: iron chelators that target the mitochondrion as a therapeutic strategy?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

TAT protein transduction into isolated perfused hearts: TAT-apoptosis repressor with caspase recruitment domain is cardioprotective

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

In Vivo Delivery of a Bcl-xL Fusion Protein Containing the TAT Protein Transduction Domain Protects against Ischemic Brain Injury and Neuronal Apoptosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Recent advances in the molecular pathogenesis of Friedreich ataxia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

In vivo protein transduction: delivery of a biologically active protein into the mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Unfolding of preproteins upon import into mitochondria

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

The blood-brain barrier: principles for targeting peptides and drugs to the central nervous system

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Relationship of octanol/water partition coefficient and molecular weight to rat brain capillary permeability

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

The heart in Friedreich's ataxia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Biventricular function in Friedreich's ataxia: a radionuclide angiographic study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

Selective iron chelation in Friedreich ataxia: biologic and clinical implications

8 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Transactivator of transcription fusion protein transduction causes membrane inversion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Targeting proteins to mitochondria using TAT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Studies on the internalization mechanism of cationic cell-penetrating peptides.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

High-dose beta-blocker hypertrophic cardiomyopathy therapy in a patient with Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Friedreich's ataxia presenting after cardiac transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Friedreich's ataxia: a clinical and genetic analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Friedreich's ataxia. Revision of the phenotype according to molecular genetics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Newborn screening: toward a uniform screening panel and system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Mrs3p, Mrs4p, and frataxin provide iron for Fe-S cluster synthesis in mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

Cellular uptake and lysosomal delivery of galactocerebrosidase tagged with the HIV Tat protein transduction domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097037

26 October 2018

Frataxin knockin mouse

1 reference

https://api.crossref.org/works/10.1007%2FS00246-011-9943-6

TAT-based drug delivery system--new directions in protein delivery for new hopes?

21 January 2018

1 reference

12 December 2020

Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy

1 reference

12 December 2020

Heart transplantation in Friedreich's ataxia and other neuromuscular diseases

1 reference

12 December 2020

Cardiac transplantation: a temporary solution for Friedreich's ataxia-induced dilated cardiomyopathy

1 reference

12 December 2020

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

1 reference

12 December 2020

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

1 reference

12 December 2020

Cardiac involvement in Friedreich's ataxia: a clinical study of 75 patients

1 reference

12 December 2020

Polyarginine enters cells more efficiently than other polycationic homopolymers

1 reference

12 December 2020

Five-year follow-up of Friedreich's ataxia cardiomyopathy

1 reference

12 December 2020

Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia

1 reference

12 December 2020

Friedreich's ataxia in Western Norway

1 reference

12 December 2020

Echocardiographic characterization of cardiomyopathy in Friedreich's ataxia with tissue Doppler echocardiographically derived myocardial velocity gradients

1 reference

12 December 2020

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

1 reference

12 December 2020

Differential stability of the (GAA) n tract in the Friedreich ataxia (STM7) gene

1 reference

12 December 2020

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

1 reference

12 December 2020

The cellular uptake of horseradish peroxidase and its poly(lysine) conjugate by cultured fibroblasts is qualitatively similar despite a 900-fold difference in rate

1 reference

12 December 2020

The varying evolution of Friedreich's ataxia cardiomyopathy

1 reference

12 December 2020

Electrocardiographic and vectocardiographic findings in Friedreich's ataxia

1 reference

12 December 2020

GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases

1 reference

12 December 2020

10.1007/S00246-011-9943-6

Identifiers

DOI

1 reference

Dimensions Publication ID

5 August 2017

1012595362

0 references

Fatcat ID

release_pbdmclb2cbapnggyx77z7wavz4

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pbdmclb2cbapnggyx77z7wavz4

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3097037

1 reference

5 August 2017

1 reference