Rustin, Pierre

Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice

Larsson, N.-G., Wang, J., Wilhelmsson, H., Oldfors, A., Rustin, P., Lewandoski, M., Barsh, G. S., & Clayton, D. A. (1998) · Nature Genetics

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 1,594

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

Rötig, A., de Lonlay, P., Chretien, D., Foury, F., Koenig, M., Sidi, D., Munnich, A., & Rustin, P. (1997) · Nature Genetics

Genetic Neurodegenerative DiseasesMitochondrial Function and Pathology

Cited by 991

Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations

Pollard, P. J., Brière, J. J., Alam, N. A., Barwell, J., Barclay, E., Wortham, N. C., Hunt, T., Mitchell, M., Olpin, S., Moat, S. J., et al. (2005) · Human Molecular Genetics

Cancer, Hypoxia, and MetabolismAdrenal and Paraganglionic Tumors

Cited by 865

SDH mutations establish a hypermethylator phenotype in paraganglioma

Letouzé, E., Martinelli, C., Loriot, C., Burnichon, N., Abermil, N., Ottolenghi, C., Janin, M., Menara, M., Nguyen, A. T., Benit, P., et al. (2013) · Cancer Cell

Adrenal and Paraganglionic TumorsChromatin Remodeling and Cancer

Cited by 776

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

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Péquignot, E., Munnich, A., & Rötig, A. (1995) · Nature Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 730

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

Janeway, K. A., Kim, S. Y., Lodish, M., Nosé, V., Rustin, P., Gaal, J., Dahia, P. L. M., Liegl, B., Ball, E. R., Raygada, M., et al. (2011) · Proceedings of the National Academy of Sciences

Gastrointestinal Tumor Research and TreatmentGenetic factors in colorectal cancer

Cited by 628

Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in mice

Wai, T., García-Prieto, J., Baker, M. J., Merkwirth, C., Benit, P., Rustin, P., Rupérez, F. J., Barbas, C., Ibañez, B., & Langer, T. (2015) · Science

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 551

Pearson's marrow–pancreas syndrome. A multisystem mitochondrial disorder in infancy

Rötig, A., Cormier, V, Blanche, S., Bonnefont, J. P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., & Saudubray, J. M. (1990) · Journal of Clinical Investigation

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 461

Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression.

Wang, J., Wilhelmsson, H., Graff, C., Li, H., Oldfors, A., Rustin, P., Brüning, J. C., Kahn, C. R., Clayton, D. A., Barsh, G. S., et al. (1999) · Nature Genetics

Mitochondrial Function and PathologyCardiac electrophysiology and arrhythmias

Cited by 435

Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes

Pospisilik, J. A., Knauf, C., Joza, N., Benit, P., Orthofer, M., Cani, P. D., Ebersberger, I., Nakashima, T., Sarao, R., Neely, G., et al. (2007) · Cell

Metabolism, Diabetes, and CancerMitochondrial Function and Pathology

Cited by 404

The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway

Gimenez-Roqueplo, A.-P., Favier, J., Rustin, P., Mourad, J.-J., Plouin, P.-F., Corvol, P., Rötig, A., & Jeunemaitre, X. (2001) · The American Journal of Human Genetics

Adrenal and Paraganglionic TumorsNeurofibromatosis and Schwannoma Cases

Cited by 364

Increased in vivo apoptosis in cells lacking mitochondrial DNA gene expression

Wang, J., Silva, J. P., Gustafsson, C. M., Rustin, P., & Larsson, N.-G. (2001) · Proceedings of the National Academy of Sciences

Mitochondrial Function and PathologyCell death mechanisms and regulation

Cited by 245

The Warburg effect is genetically determined in inherited pheochromocytomas

Favier, J., Brière, J.-J., Burnichon, N., Rivière, J., Vescovo, L., Benit, P., Giscos-Douriez, I., De Reyniès, A., Bertherat, J., Badoual, C., et al. (2009) · PLoS ONE

Adrenal and Paraganglionic TumorsCancer, Hypoxia, and Metabolism

Cited by 232

Functional Consequences of a SDHB Gene Mutation in an Apparently Sporadic Pheochromocytoma

Gimenez-Roqueplo, A.-P., Favier, J., Rustin, P., Rieubland, C., Kerlan, V., Plouin, P.-F., Rötig, A., & Jeunemaitre, X. (2002) · The Journal of Clinical Endocrinology & Metabolism

Adrenal and Paraganglionic TumorsMetabolism and Genetic Disorders

Cited by 209

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

Stabilization of Hypoxia-inducible Factor-1α Protein in Hypoxia Occurs Independently of Mitochondrial Reactive Oxygen Species Production

Chua, Y. L., Dufour, E., Dassa, E. P., Rustin, P., Jacobs, H. T., Taylor, C. T., & Hagen, T. (2010) · Journal of Biological Chemistry

Cancer, Hypoxia, and MetabolismErythropoietin and Anemia Treatment

Cited by 189

Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy

Li, H., Wang, J., Wilhelmsson, H., Hansson, A., Thorén, P., Duffy, J., Rustin, P., & Larsson, N.-G. (2000) · Proceedings of the National Academy of Sciences

Mitochondrial Function and PathologyCardiac electrophysiology and arrhythmias

Cited by 185

Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice

Sörensen, L., Ekstrand, M., Silva, J., Lindqvist, E., Xu, B., Rustin, P., Olson, L., & Larsson, N.-G. (2001) · The Journal of Neuroscience

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 167

Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human

Rustin, P., Bourgeron, T., Parfait, B., Chretien, D., Munnich, A., & Rötig, A. (1997) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 137

Inborn errors of complex II – Unusual human mitochondrial diseases

Rustin, P., & Rötig, A. (2002) · Biochimica et Biophysica Acta (BBA) - Bioenergetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 135

The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes

Bonnet, C., Augustin, S., Ellouze, S., Bénit, P., Bouaita, A., Rustin, P., Sahel, J.-A., & Corral-Debrinski, M. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 130

Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits

Bonnet, C., Kaltimbacher, V., Ellouze, S., Augustin, S., Bénit, P., Forster, V., Rustin, P., Sahel, J.-A., & Corral-Debrinski, M. (2007) · Rejuvenation Research

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 98

Absence of relationship between the level of electron transport chain activities and aging in human skeletal muscle

Barrientos, A., Casademont, J., Rötig, A., Miró, Ò., Urbano-Márquez, Á., Rustin, P., & Cardellach, F. (1996) · Biochemical and Biophysical Research Communications

Mitochondrial Function and PathologyMuscle Physiology and Disorders

Cited by 95