High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models

Autor: Brahim Belbellaa, Laurence Reutenauer, Nadia Messaddeq, Laurent Monassier, Hélène Puccio

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 19, Iss , Pp 120-138 (2020)

Friedreich ataxia (FA) is currently an incurable inherited mitochondrial disease caused by reduced levels of frataxin (FXN). Cardiac dysfunction is the main cause of premature death in FA. Adeno-associated virus (AAV)-mediated gene therapy constitute

Externí odkaz: https://doaj.org/article/fa54e2a198ec448e8bab56a06c3b3146

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

Autor: Alain Martelli, Lisa S. Friedman, Laurence Reutenauer, Nadia Messaddeq, Susan L. Perlman, David R. Lynch, Kathrin Fedosov, Jörg B. Schulz, Massimo Pandolfo, Hélène Puccio

Publikováno v: Disease Models & Mechanisms, Vol 5, Iss 6, Pp 860-869 (2012)

SUMMARY Friedreich’s ataxia (FRDA) is the most common hereditary ataxia in the caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia, hypertrophic cardiomyopathy and increased incidence of diabetes. FRDA is caused

Externí odkaz: https://doaj.org/article/1b4609d7de1d4f47ae9e010f40dc8b22

The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.

Autor: Nadège Calmels, Stéphane Schmucker, Marie Wattenhofer-Donzé, Alain Martelli, Nadège Vaucamps, Laurence Reutenauer, Nadia Messaddeq, Cécile Bouton, Michel Koenig, Hélène Puccio

Publikováno v: PLoS ONE, Vol 4, Iss 7, p e6379 (2009)

BACKGROUND:Friedreich ataxia (FRDA), the most common form of recessive ataxia, is due to reduced levels of frataxin, a highly conserved mitochondrial iron-chaperone involved in iron-sulfur cluster (ISC) biogenesis. Most patients are homozygous for a

Externí odkaz: https://doaj.org/article/e20e9a7c96684b6e855d8386ef61204e

High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models

Autor: Hélène Puccio, Laurent Monassier, Brahim Belbellaa, Nadia Messaddeq, Laurence Reutenauer

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 19, Iss, Pp 120-138 (2020)
Molecular Therapy-Methods and Clinical Development
Molecular Therapy-Methods and Clinical Development, Nature Publishing Group, 2020, 19, pp.120-138. ⟨10.1016/j.omtm.2020.08.018⟩
Molecular Therapy-Methods and Clinical Development, 2020, 19, pp.120-138. ⟨10.1016/j.omtm.2020.08.018⟩
Molecular Therapy. Methods & Clinical Development

Friedreich ataxia (FA) is currently an incurable inherited mitochondrial disease caused by reduced levels of frataxin (FXN). Cardiac dysfunction is the main cause of premature death in FA. Adeno-associated virus (AAV)-mediated gene therapy constitute

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e302e1695570872c3b4013cd5fed89e6
http://www.sciencedirect.com/science/article/pii/S2329050120301844

Correction of half the cardiomyocytes fully rescue Friedreich ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms

Autor: Laurent Monassier, Brahim Belbellaa, Hélène Puccio, Laurence Reutenauer

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, 28 (8), pp.1274-1285. ⟨10.1093/hmg/ddy427⟩

Friedreich ataxia (FA) is currently an incurable inherited mitochondrial neurodegenerative disease caused by reduced levels of frataxin. Cardiac failure constitutes the main cause of premature death in FA. While adeno-associated virus-mediated cardia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::530f15df146bf6d89229197320008aa5
https://hal.archives-ouvertes.fr/hal-03445371