Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia (Q42226636)

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scientific article published on 6 April 2014

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English	Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia	scientific article published on 6 April 2014

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scholarly article

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Europe PubMed Central

PubMed publication ID

24705334

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19 October 2017

title

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia (English)

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Europe PubMed Central

PubMed publication ID

24705334

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19 October 2017

main subject

gene therapy

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Friedreich ataxia

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inferred from title

cardiomyopathy

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author

Laurent Monassier

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3

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Laurent Monassier

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Nathalie Cartier

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6

object named as

Nathalie Cartier

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Europe PubMed Central

PubMed publication ID

24705334

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19 October 2017

author name string

Morgane Perdomini

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1

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PubMed publication ID

24705334

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19 October 2017

Brahim Belbellaa

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2

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PubMed publication ID

24705334

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19 October 2017

Laurence Reutenauer

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4

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PubMed publication ID

24705334

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19 October 2017

Nadia Messaddeq

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5

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PubMed publication ID

24705334

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19 October 2017

Ronald G Crystal

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7

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24705334

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19 October 2017

Patrick Aubourg

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8

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PubMed publication ID

24705334

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19 October 2017

Hélène Puccio

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9

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PubMed publication ID

24705334

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19 October 2017

language of work or name

English

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publication date

6 April 2014

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Europe PubMed Central

PubMed publication ID

24705334

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19 October 2017

published in

Nature Medicine

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Europe PubMed Central

PubMed publication ID

24705334

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19 October 2017

volume

20

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Europe PubMed Central

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24705334

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19 October 2017

issue

5

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24705334

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19 October 2017

page(s)

542-547

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24705334

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cites work

Molecular and functional alterations in a mouse cardiac model of Friedreich ataxia: activation of the integrated stress response, eIF2α phosphorylation, and the induction of downstream targets.

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Enhanced survival of the LINCL mouse following CLN2 gene transfer using the rh.10 rhesus macaque-derived adeno-associated virus vector.

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly

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12 December 2020

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Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

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RH10 provides superior transgene expression in mice when compared with natural AAV serotypes for neonatal gene therapy

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/24705334

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Therapeutic developments in Friedreich ataxia

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Molecular distinction between physiological and pathological cardiac hypertrophy: experimental findings and therapeutic strategies

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Friedreich's ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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The heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms.

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Fusion and fission: interlinked processes critical for mitochondrial health

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Mortality in Friedreich ataxia

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Friedreich ataxia: the oxidative stress paradox

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12 December 2020

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Longitudinal strain in Friedreich Ataxia: a potential marker for early left ventricular dysfunction

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Reciprocal regulation of microRNA-1 and insulin-like growth factor-1 signal transduction cascade in cardiac and skeletal muscle in physiological and pathological conditions

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Calcium-calcineurin signaling in the regulation of cardiac hypertrophy

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Normal left ventricular ejection fraction and mass but subclinical myocardial dysfunction in patients with Friedreich's ataxia

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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A review of Friedreich ataxia clinical trial results

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12 December 2020

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Intracellular calcium homeostasis in cardiac myocytes

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PubMed

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe-S proteins

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Mitochondrial impairment of human muscle in Friedreich ataxia in vivo

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Persistent expression of biologically active anti-HER2 antibody by AAVrh.10-mediated gene transfer

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/24705334

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12 December 2020

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Identifiers

DOI

10.1038/NM.3510

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Europe PubMed Central

PubMed publication ID

24705334

retrieved

19 October 2017

PubMed publication ID

24705334

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24705334

retrieved

19 October 2017

 

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