Hélène Puccio
Hélène Puccio
IGBMC - Inserm
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Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
H Puccio, D Simon, M Cossée, P Criqui-Filipe, F Tiziano, J Melki, ...
Nature genetics 27 (2), 181-186, 2001
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
M Cossée, H Puccio, A Gansmuller, H Koutnikova, A Dierich, M LeMeur, ...
Human molecular genetics 9 (8), 1219-1226, 2000
Red blood cell generation from human induced pluripotent stem cells: perspectives for transfusion medicine
H Lapillonne, L Kobari, C Mazurier, P Tropel, MC Giarratana, ...
Haematologica 95 (10), 1651, 2010
Dystrobrevin and dystrophin: an interaction through coiled-coil motifs
HM Sadoulet-Puccio, M Rajala, LM Kunkel
Proceedings of the National Academy of Sciences 94 (23), 12413-12418, 1997
Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex
S Schmucker, A Martelli, F Colin, A Page, M Wattenhofer-Donzé, ...
PloS one 6 (1), e16199, 2011
Friedreich ataxia: the oxidative stress paradox
H Seznec, D Simon, C Bouton, L Reutenauer, A Hertzog, P Golik, ...
Human molecular genetics 14 (4), 463-474, 2005
Disabled early recruitment of antioxidant defenses in Friedreich’s ataxia
K Chantrel-Groussard, V Geromel, H Puccio, M Koenig, A Munnich, ...
Human molecular genetics 10 (19), 2061-2067, 2001
Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia
D Simon, H Seznec, A Gansmuller, N Carelle, P Weber, D Metzger, ...
Journal of Neuroscience 24 (8), 1987-1995, 2004
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia
M Perdomini, B Belbellaa, L Monassier, L Reutenauer, N Messaddeq, ...
Nature medicine 20 (5), 542-547, 2014
Frataxin: a protein in search for a function
A Pastore, H Puccio
Journal of neurochemistry 126, 43-52, 2013
Recent advances in the molecular pathogenesis of Friedreich ataxia
H Puccio, M Kœnig
Human molecular genetics 9 (6), 887-892, 2000
Frataxin deficiency in pancreatic islets causes diabetes due to loss of β cell mass
M Ristow, H Mulder, D Pomplun, TJ Schulz, K Müller-Schmehl, A Krause, ...
The Journal of clinical investigation 112 (4), 527-534, 2003
Differential membrane localization and intermolecular associations of α-dystrobrevin isoforms in skeletal muscle
MF Peters, HM Sadoulet-Puccio, R Mark Grady, NR Kramarcy, LM Kunkel, ...
The Journal of cell biology 142 (5), 1269-1278, 1998
The in vivo mitochondrial two-step maturation of human frataxin
S Schmucker, M Argentini, N Carelle-Calmels, A Martelli, H Puccio
Human molecular genetics 17 (22), 3521-3531, 2008
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia
H Seznec, D Simon, L Monassier, P Criqui-Filipe, A Gansmuller, P Rustin, ...
Human molecular genetics 13 (10), 1017-1024, 2004
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches
S Schmucker, H Puccio
Human Molecular Genetics 19 (R1), R103-R110, 2010
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia
A Hick, M Wattenhofer-Donzé, S Chintawar, P Tropel, JP Simard, ...
Disease models & mechanisms 6 (3), 608-621, 2013
Mammalian Frataxin Controls Sulfur Production and Iron Entry during de Novo Fe4S4 Cluster Assembly
F Colin, A Martelli, M Clémancey, JM Latour, S Gambarelli, L Zeppieri, ...
Journal of the American Chemical Society 135 (2), 733-740, 2013
Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane
HM Sadoulet-Puccio, TS Khurana, JB Cohen, LM Kunkel
Human molecular genetics 5 (4), 489-496, 1996
Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice
R Thierbach, TJ Schulz, F Isken, A Voigt, B Mietzner, G Drewes, ...
Human molecular genetics 14 (24), 3857-3864, 2005
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