The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications (Q35052617)

6 August 2017

title

The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications (English)

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6 August 2017

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R Mark Payne

1

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6 August 2017

publication date

1 May 2011

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Progress in pediatric cardiology

6 August 2017

published in

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6 August 2017

volume

31

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6 August 2017

issue

2

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6 August 2017

page(s)

103-109

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

6 August 2017

cites work

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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.

8 July 2018

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A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia

8 July 2018

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

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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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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Structural basis of the iron storage function of frataxin from single-particle reconstruction of the iron-loaded oligomer

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=3117664

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues

8 July 2018

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

8 July 2018

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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=3117664

Iron and 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=3117664

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=3117664

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=3117664

Assembly of human frataxin is a mechanism for detoxifying redox-active iron

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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=3117664

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=3117664

Structure of frataxin iron cores: an X-ray absorption spectroscopic 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=3117664

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=3117664

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=3117664

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=3117664

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=3117664

Oxidative stress 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=3117664

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=3117664

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=3117664

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=3117664

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=3117664

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=3117664

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=3117664

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=3117664

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=3117664

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=3117664

TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD 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=3117664

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

Selective iron chelation in Friedreich ataxia: biologic and clinical implications

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

Friedreich's ataxia: a clinical and genetic analysis

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

Transactivator of transcription fusion protein transduction causes membrane inversion

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

Targeting proteins to mitochondria using TAT.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117664

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

25 October 2018

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

Frataxin knockin mouse

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

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

1 reference

12 December 2020

Cardiac aspects of Friedreich's ataxia

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

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

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

1 reference

12 December 2020

Supramolecular assemblies of human frataxin are formed via subunit-subunit interactions mediated by a non-conserved amino-terminal region

1 reference

12 December 2020

10.1016/J.PPEDCARD.2011.02.007

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DOI

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6 August 2017

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6 August 2017

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