Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice NG Larsson, J Wang, H Wilhelmsson, A Oldfors, P Rustin, M Lewandoski, ... Nature genetics 18 (3), 231-236, 1998 | 1826 | 1998 |
Biochemical and molecular investigations in respiratory chain deficiencies P Rustin, D Chretien, T Bourgeron, B Gerard, A Rötig, JM Saudubray, ... Clinica chimica acta 228 (1), 35-51, 1994 | 1434 | 1994 |
Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia A Rötig, P de Lonlay, D Chretien, F Foury, M Koenig, D Sidi, A Munnich, ... Nature genetics 17 (2), 215-217, 1997 | 1163 | 1997 |
Mitochondrial transcription factor A regulates mtDNA copy number in mammals MI Ekstrand, M Falkenberg, A Rantanen, CB Park, M Gaspari, K Hultenby, ... Human molecular genetics 13 (9), 935-944, 2004 | 1037 | 2004 |
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency T Bourgeron, P Rustin, D Chretien, M Birch-Machin, M Bourgeois, ... Nature genetics 11 (2), 144-149, 1995 | 898 | 1995 |
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 | 820 | 2001 |
Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues S Blanche, M Tardieu, P Rustin, A Slama, B Barret, G Firtion, ... The Lancet 354 (9184), 1084-1089, 1999 | 800 | 1999 |
SDH mutations establish a hypermethylator phenotype in paraganglioma E Letouzé, C Martinelli, C Loriot, N Burnichon, N Abermil, C Ottolenghi, ... Cancer cell 23 (6), 739-752, 2013 | 786 | 2013 |
SDHA is a tumor suppressor gene causing paraganglioma N Burnichon, JJ Brière, R Libé, L Vescovo, J Rivière, F Tissier, E Jouanno, ... Human molecular genetics 19 (15), 3011-3020, 2010 | 774 | 2010 |
AIF deficiency compromises oxidative phosphorylation N Vahsen, C Candé, JJ Brière, P Bénit, N Joza, N Larochette, ... The EMBO journal 23 (23), 4679-4689, 2004 | 741 | 2004 |
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations KA Janeway, SY Kim, M Lodish, V Nosé, P Rustin, J Gaal, PLM Dahia, ... Proceedings of the National Academy of Sciences 108 (1), 314-318, 2011 | 690 | 2011 |
Mutations in the SDHB Gene Are Associated with Extra-adrenal and/or Malignant Phaeochromocytomas AP Gimenez-Roqueplo, J Favier, P Rustin, C Rieubland, M Crespin, ... Cancer research 63 (17), 5615-5621, 2003 | 671 | 2003 |
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. A Rötig, V Cormier, S Blanche, JP Bonnefont, F Ledeist, N Romero, ... The Journal of clinical investigation 86 (5), 1601-1608, 1990 | 547 | 1990 |
Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC … B Pasini, SR McWhinney, T Bei, L Matyakhina, S Stergiopoulos, ... European Journal of Human Genetics 16 (1), 79-88, 2008 | 543 | 2008 |
Spermidine and resveratrol induce autophagy by distinct pathways converging on the acetylproteome E Morselli, G Mariño, MV Bennetzen, T Eisenberg, E Megalou, ... Journal of Cell Biology 192 (4), 615-629, 2011 | 535 | 2011 |
Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in mice T Wai, J García-Prieto, MJ Baker, C Merkwirth, P Benit, P Rustin, ... Science 350 (6265), aad0116, 2015 | 500 | 2015 |
Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression J Wang, H Wilhelmsson, C Graff, H Li, A Oldfors, P Rustin, JC Brüning, ... Nature genetics 21 (1), 133-137, 1999 | 493 | 1999 |
Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes JA Pospisilik, C Knauf, N Joza, P Benit, M Orthofer, PD Cani, ... Cell 131 (3), 476-491, 2007 | 450 | 2007 |
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy I Valnot, S Osmond, N Gigarel, B Mehaye, J Amiel, V Cormier-Daire, ... The American Journal of Human Genetics 67 (5), 1104-1109, 2000 | 447 | 2000 |
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 … AP Gimenez-Roqueplo, J Favier, P Rustin, JJ Mourad, PF Plouin, ... The American Journal of Human Genetics 69 (6), 1186-1197, 2001 | 432 | 2001 |