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Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone.
Published in:
Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 28, doi. 10.1023/A:1005642302316
By:
- Lerman-Sagie, T.;
- Rustin, P.;
- Lev, D.;
- Yanoov, M.;
- Leshinsky-Silver, E.;
- Sagie, A.;
- Ben-Gal, T.;
- Munnich, A.
Publication type:
Article
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.
Published in:
Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 15, doi. 10.1023/A:1005638218246
By:
- Wittig, I.;
- Augstein, P.;
- Brown, G.;
- Fujii, T.;
- Rötig, A.;
- Rustin, P.;
- Munnich, A.;
- Seibel, P.;
- Thorburn, D.;
- Wissinger, B.;
- Tamboom, K.;
- Metspalu, A.;
- Lamantea, E.;
- Zeviani, M.;
- Wehnert, M.
Publication type:
Article
Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 748, doi. 10.1023/A:1005497116398
By:
- Harpey, J-P.;
- Heron, D.;
- Prudent, M.;
- Charpentier, C.;
- Rustin, P.;
- Ponsot, G.;
- Cormier-Daire, V.
Publication type:
Article
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
Published in:
Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 216, doi. 10.1023/A:1005391300203
By:
- Rabier, D.;
- Diry, C.;
- Rotig, A.;
- Rustin, P.;
- Heron, B.;
- Bardet, J.;
- Parvy, P.;
- Ponsot, G.;
- Marsac, C.;
- Saudubray, J.;
- Munnich, A.;
- Kamoun, P.
Publication type:
Article
BH3 mimetics activate multiple pro-autophagic pathways.
Published in:
Oncogene, 2011, v. 30, n. 37, p. 3918, doi. 10.1038/onc.2011.104
By:
- Malik, S A;
- Orhon, I;
- Morselli, E;
- Criollo, A;
- Shen, S;
- Mariño, G;
- BenYounes, A;
- Bénit, P;
- Rustin, P;
- Maiuri, M C;
- Kroemer, G
Publication type:
Article
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
Published in:
1999
By:
- Parfait, B.;
- de Lonlay, P.;
- von Kleist-Retzow, J. C.;
- Cormier-Daire, V.;
- Chrétien, D.;
- Rötig, A.;
- Rabier, D.;
- Saudubray, J. M.;
- Rustin, P.;
- Munnich, A.;
- Chrétien, D;
- Rötig, A
Publication type:
journal article
Severe complex I deficiency in a case of neonatal-onset lactic acidosis and fatal liver failure.
Published in:
1997
By:
- Mazzella, M;
- Cerone, R;
- Bonacci, W;
- Caruso, U;
- Munnich, A;
- Rustin, P;
- Saudubray, JM;
- Romano, C;
- Serra, G;
- Saudubray, J M
Publication type:
journal article
Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?
Published in:
2012
By:
- Xekouki P;
- Pacak K;
- Almeida M;
- Wassif CA;
- Rustin P;
- Nesterova M;
- de la Luz Sierra M;
- Matro J;
- Ball E;
- Azevedo M;
- Horvath A;
- Lyssikatos C;
- Quezado M;
- Patronas N;
- Ferrando B;
- Pasini B;
- Lytras A;
- Tolis G;
- Stratakis CA;
- Xekouki, Paraskevi
Publication type:
journal article
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Published in:
2006
By:
- Barnérias C;
- Giurgea I;
- Hertz-Pannier L;
- Bahi-Buisson N;
- Boddaert N;
- Rustin P;
- Rotig A;
- Desguerre I;
- Munnich A;
- de Lonlay P
Publication type:
Journal Article
Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen.
Published in:
2009
By:
- Calmels N;
- Seznec H;
- Villa P;
- Reutenauer L;
- Hibert M;
- Haiech J;
- Rustin P;
- Koenig M;
- Puccio H;
- Calmels, Nadège;
- Seznec, Hervé;
- Villa, Pascal;
- Reutenauer, Laurence;
- Hibert, Marcel;
- Haiech, Jacques;
- Rustin, Pierre;
- Koenig, Michel;
- Puccio, Hélène
Publication type:
journal article
Deferiprone targets aconitase: implication for Friedreich's ataxia treatment.
Published in:
2008
By:
- Goncalves S;
- Paupe V;
- Dassa EP;
- Rustin P;
- Goncalves, Sergio;
- Paupe, Vincent;
- Dassa, Emmanuel P;
- Rustin, Pierre
Publication type:
journal article
25 MITOCHONDRIAL RESPIRATORY CHAIN DISORDERS (MRCD) PRESENTING AS LIVER DISEASE: DIVERSITY OF CLINICAL, BIOCHEMICAL AND HISTOLOGICAL FEATURES.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 1996, v. 22, n. 4, p. 415
By:
- Dubuisson, C.;
- Rustin, P.;
- Cormier, V.;
- Fabre, M.;
- Durand, P.;
- Bernard, O.
Publication type:
Article
67 FAMILIAL INFANTILE CIRRHOSIS DUE TO DEFICIENCY OF RESPIRATORY CHAIN ENZYMES CODED BY MITOCHONDRIAL DNA.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 1994, v. 19, n. 3, p. 346
By:
- Goncalves, I;
- Rustin, P;
- Munnich, A;
- Buts, JP;
- Sokal, EM
Publication type:
Article
Succinate dehydrogenase and human diseases: new insights into a well-known enzyme.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 5, p. 289, doi. 10.1038/sj.ejhg.5200793
By:
- Rustin, P.;
- Munnich, A.;
- Rotig, A.
Publication type:
Article
miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66016-7
By:
- Sanson, M.;
- Vu Hong, A.;
- Massourides, E.;
- Bourg, N.;
- Suel, L.;
- Amor, F.;
- Corre, G.;
- Bénit, P.;
- Barthélémy, I.;
- Blot, S.;
- Bigot, A.;
- Pinset, C.;
- Rustin, P.;
- Servais, L.;
- Voit, T.;
- Richard, I.;
- Israeli, D.
Publication type:
Article
A brain-specific isoform of mitochondrial apoptosis-inducing factor: AIF2.
Published in:
Cell Death & Differentiation, 2010, v. 17, n. 7, p. 1155, doi. 10.1038/cdd.2009.211
By:
- Hangen, E.;
- De Zio, D.;
- Bordi, M.;
- Zhu, C.;
- Dessen, P.;
- Caffin, F.;
- Lachkar, S.;
- Perfettini, J.-L.;
- Lazar, V.;
- Benard, J.;
- Fimia, G. M.;
- Piacentini, M.;
- Harper, F.;
- Pierron, G.;
- Vicencio, J. M.;
- Bénit, P.;
- de Andrade, A.;
- Höglinger, G.;
- Culmsee, C.;
- Rustin, P.
Publication type:
Article
The molecular archaeology of a mitochondrial death effector: AIF in Drosophila.
Published in:
Cell Death & Differentiation, 2008, v. 15, n. 6, p. 1009, doi. 10.1038/cdd.2008.24
By:
- Joza, N.;
- Galindo, K.;
- Pospisilik, J. A.;
- Benit, P.;
- Rangachari, M.;
- Kanitz, E. E.;
- Nakashima, Y.;
- Neely, G. G.;
- Rustin, P.;
- Abrams, J. M.;
- Kroemer, G.;
- Penninger, J. M.
Publication type:
Article
Targeted Vpr-derived peptides reach mitochondria to induce apoptosis of α<sub>V</sub>β<sub>3</sub>-expressing endothelial cells.
Published in:
Cell Death & Differentiation, 2007, v. 14, n. 3, p. 422, doi. 10.1038/sj.cdd.4402018
By:
- Borgne-Sanchez, A.;
- Dupont, S.;
- Langonné, A.;
- Baux, L.;
- Lecoeur, H.;
- Chauvier, D.;
- Lassalle, M.;
- Déas, O.;
- Brière, J.-J.;
- Brabant, M.;
- Roux, P.;
- Péchoux, C.;
- Briand, J.-P.;
- Hoebeke, J.;
- Deniaud, A.;
- Brenner, C.;
- Rustin, P.;
- Edelman, L.;
- Rebouillat, D.;
- Jacotot, E.
Publication type:
Article
Efficiency of metabolic screening in childhood cardiomyopathies.
Published in:
European Heart Journal, 1998, v. 19, n. 5, p. 790, doi. 10.1053/euhj.1997.0818
By:
- Bonnet, D.;
- de Lonlay, P.;
- Gautier, I.;
- Rustin, P.;
- Rötig, A.;
- Kachaner, J.;
- Acar, P.;
- LeBidois, J.;
- Munnich, A.;
- Sidi, D.
Publication type:
Article
Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy.
Published in:
2012
By:
- Bouaita A;
- Augustin S;
- Lechauve C;
- Cwerman-Thibault H;
- Bénit P;
- Simonutti M;
- Paques M;
- Rustin P;
- Sahel JA;
- Corral-Debrinski M
Publication type:
Journal Article
Mitochondria and diabetes mellitus: untangling a conflictive relationship?
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 684, doi. 10.1007/s10545-009-1263-0
By:
- Schiff, M.;
- Loublier, S.;
- Coulibaly, A.;
- Bénit, P.;
- Ogier de Baulny, H.;
- Rustin, P.
Publication type:
Article
Mitochondrial oxidative phosphorylation: Pitfalls and tips in measuring and interpreting enzyme activities.
Published in:
Journal of Inherited Metabolic Disease, 2003, v. 26, n. 2/3, p. 189, doi. 10.1023/A:1024437201166
By:
- Chretien, D.;
- Rustin, P.
Publication type:
Article
Succinate dehydrogenase deficiency in human.
Published in:
Cellular & Molecular Life Sciences, 2005, v. 62, n. 19/20, p. 2317, doi. 10.1007/s00018-005-5237-6
By:
- Brière, J.-J.;
- Favier, J.;
- El Ghouzzi, V.;
- Djouadi, F.;
- Bénit, P.;
- Gimenez, A.-P.;
- Rustin, P.
Publication type:
Article
Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 15, p. 2231, doi. 10.1093/hmg/ddi227
By:
- 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.;
- Hargreaves, I.P.;
- Heales, S.J.;
- Chung, Y.L.;
- Griffiths, J.R.;
- Dalgleish, A.;
- McGrath, J.A.;
- Gleeson, M.J.;
- Hodgson, S.V.;
- Poulsom, R.;
- Rustin, P.
Publication type:
Article
Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma.
Published in:
2004
By:
- Astuti, D;
- Morris, M;
- Krona, C;
- Abel, F;
- Gentle, D;
- Martinsson, T;
- Kogner, P;
- Neumann, H P H;
- Voutilainen, R;
- Eng, C;
- Rustin, P;
- Latif, F;
- Maher, E R
Publication type:
journal article
Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease M. Marque et al. Novel FH mutation.
Published in:
British Journal of Dermatology, 2010, v. 163, n. 6, p. 1337, doi. 10.1111/j.1365-2133.2010.09912.x
By:
- Marque, M.;
- Gardie, B.;
- Bressac de Paillerets, B.;
- Rustin, P.;
- Guillot, B.;
- Richard, S.;
- Bessis, D.
Publication type:
Article

Found: 26