Puccio, Hélène

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

Puccio, H., Simon, D., Cossée, M., Criqui-Filipe, P., Tiziano, F., Melki, J., Hindelang, C., Matyas, R., Rustin, P., & Koenig, M. (2001) · Nature Genetics

Genetic Neurodegenerative DiseasesMitochondrial Function and Pathology

Cited by 738

Friedreich ataxia: the oxidative stress paradox

Seznec, H., Simon, D., Bouton, C., Reutenauer, L., Hertzog, A., Golik, P., Procaccio, V., Patel, M., Drapier, J.-C., Koenig, M., et al. (2005) · Human Molecular Genetics

Genetic Neurodegenerative DiseasesMitochondrial Function and Pathology

Cited by 219

Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia

Simon, D., Seznec, H., Gansmuller, A., Carelle, N., Weber, P., Metzger, D., Rustin, P., Koenig, M., & Puccio, H. (2004) · The Journal of Neuroscience

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 205

Mammalian Frataxin Controls Sulfur Production and Iron Entry during de Novo Fe 4 S 4 Cluster Assembly

Colin, F., Martelli, A., Clémancey, M., Latour, J.-M., Gambarelli, S., Zeppieri, L., Birck, C., Page, A., Puccio, H., & Ollagnier de Choudens, S. (2013) · Journal of the American Chemical Society

Metalloenzymes and iron-sulfur proteinsEnzyme Structure and Function

Cited by 148

Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice

Thierbach, R., Schulz, T. J., Isken, F., Voigt, A., Mietzner, B., Drewes, G., von Kleist-Retzow, J.-C., Wiesner, R. J., Magnuson, M. A., Puccio, H., et al. (2005) · Human Molecular Genetics

Mitochondrial Function and PathologyMetabolism, Diabetes, and Cancer

Cited by 127

Advancements in the pathophysiology of Friedreich’s Ataxia and new prospects for treatments

Babady, N. E., Carelle, N., Wells, R. D., Rouault, T. A., Hirano, M., Lynch, D. R., Delatycki, M. B., Wilson, R. B., Isaya, G., & Puccio, H. (2007) · Molecular Genetics and Metabolism

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 73