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Pierre Rustin

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Manuel Schiff; Jerry Vockley; Paule Bénit; Howard T Jacobs; Pierre Rustin
Therapies in inborn errors of oxidative metabolism.
Chiara Bardella; Julie Adam; Massimo Geuna; Annalisa Lorenzato; Linda O'Flaherty; Martina Olivero; Patrick J Pollard; Pierre Rustin; Ian Tomlinson; Maria Flavia Di Renzo
Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism.
Paule Bénit; Pierre Rustin
Changing the diet to make more mitochondria and protect the heart.

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All Publications

2012: Manuel Schiff; Jerry Vockley; Paule Bénit; Howard T Jacobs; Pierre Rustin
Therapies in inborn errors of oxidative metabolism.
Trends in endocrinology and metabolism: TEM 2012;23(9):488-95.
2012: Chiara Bardella; Julie Adam; Massimo Geuna; Annalisa Lorenzato; Linda O'Flaherty; Martina Olivero; Patrick J Pollard; Pierre Rustin; Ian Tomlinson; Maria Flavia Di Renzo
Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism.
Molecular and cellular biology 2012;32(15):3081-94.
2012: Paule Bénit; Pierre Rustin
Changing the diet to make more mitochondria and protect the heart.
Circulation research 2012;110(8):1047-8.
2012: Paraskevi Xekouki; George Tolis; Christopher A Wassif; Madson Almeida; Monalisa Azevedo; Evan Ball; Maria De La Luz Sierra; Barbara Ferrando; Anelia Horvath; Charalampos Lyssikatos; Aristides Lytras; Joey Matro; Maria Nesterova; Karel Pacak; Barbara Pasini; Nicholas Patronas; Martha Quezado; Pierre Rustin; Constantine A Stratakis
Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?
The Journal of clinical endocrinology and metabolism 2012;97(3):E357-66.
2012: Hervé Lecoeur; S Muller; Christine Péchoux; M Porceddu; Dominique Rebouillat; Pierre Rustin; Alain Langonné; Annie Borgne-Sanchez; M Brabant; catherine brenner; Jean-Paul Briand; Jean-Jacques Briere; N Buron; Olivier Chaloin; Aurélien Deniaud; R El-Khoury; Etienne Jacotot
HIV-1 Tat protein directly induces mitochondrial membrane permeabilization and inactivates cytochrome c oxidase.
Cell death & disease 2012;3():e282.
2012: Aicha Bouaita; Sébastien Augustin; Paule Bénit; Hélène Cwerman-Thibault; Christophe Lechauve; Michel Paques; Pierre Rustin; José-Alain Sahel; Manuel Simonutti; Marisol Corral-Debrinski
Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy.
Brain : a journal of neurology 2012;135(Pt 1):35-52.
2011: Eugenia Morselli; Guillermo Mariño; Martin V Bennetzen; Tobias Eisenberg; Evgenia Megalou; Sabrina Schroeder; Sandra Cabrera; Paule Bénit; Pierre Rustin; Alfredo Criollo; Oliver Kepp; Lorenzo Galluzzi; Shensi Shen; Shoaib Ahmad Malik; Maria Chiara Maiuri; Yoshiyuki Horio; Carlos López-Otín; Jens S Andersen; Nektarios Tavernarakis; Frank Madeo; Guido Kroemer
Spermidine and resveratrol induce autophagy by distinct pathways converging on the acetylproteome.
The Journal of cell biology 2011;192(4):615-29.
2010: E Hangen; D De Zio; M Bordi; Changlian Zhu; Philippe Dessen; F Caffin; S Lachkar; Jean-Luc PERFETTINI; Vladimir Lazar; J Benard; G M Fimia; Mauro Piacentini; Francis Harper; Gérard Pierron; J M Vicencio; Paule Bénit; A de Andrade; G Höglinger; C Culmsee; Pierre Rustin; Klas Blomgren; F Cecconi; Guido Kroemer; Nazanine Modjtahedi
A brain-specific isoform of mitochondrial apoptosis-inducing factor: AIF2.
Cell death and differentiation 2010;17(7):1155-66.
2010: Nelly Buron; Mathieu Porceddu; Magali Brabant; Diana Desgué; Cindy Racoeur; Myriam Lassalle; Christine Péchoux; Pierre Rustin; Etienne Jacotot; Annie Borgne-Sanchez
Use of human cancer cell lines mitochondria to explore the mechanisms of BH3 peptides and ABT-737-induced mitochondrial membrane permeabilization.
PloS one 2010;5(3):e9924.
2009: M Schiff; S Loublier; A Coulibaly; Paule Bénit; Hélène Ogier de Baulny; Pierre Rustin
Mitochondria and diabetes mellitus: untangling a conflictive relationship?
Journal of inherited metabolic disease 2009;32(6):684-98.
2009: Pierre Rustin; Howard T Jacobs
Respiratory chain alternative enzymes as tools to better understand and counteract respiratory chain deficiencies in human cells and animals.
Physiologia plantarum 2009;137(4):362-70.
2009: Emmanuel P Dassa; Eric Dufour; Sergio Goncalves; Howard T Jacobs; Pierre Rustin
The alternative oxidase, a tool for compensating cytochrome c oxidase deficiency in human cells.
Physiologia plantarum 2009;137(4):427-34.
2009: Salvatore DiMauro; Pierre Rustin
A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases.
Biochimica et biophysica acta 2009;1792(12):1159-67.
2009: Emmanuel P Dassa; Eric Dufour; Sérgio Gonçalves; Vincent Paupe; Gertjan A J Hakkaart; Howard T Jacobs; Pierre Rustin
Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells.
EMBO molecular medicine 2009;1(1):30-6.
2009: Ariane Dimitrov; Vincent Paupe; Charles Gueudry; Jean-Baptiste Sibarita; Graça Raposo; Ole Vielemeyer; Thierry Gilbert; Zsolt Csaba; Tania Attie-Bitach; Valérie Cormier-Daire; Pierre Gressens; Pierre Rustin; Franck Perez; Vincent El Ghouzzi
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
Human molecular genetics 2009;18(3):440-53.
2009: Arnold Munnich; Pascale de Lonlay; Agnès Rötig; Pierre Rustin
[Mitochondrial disorders].
Bulletin de l'Académie nationale de médecine 2009;193(1):19-41; discussion 41-3.
2009: Vincent Paupe; Emmanuel P Dassa; Sergio Goncalves; Françoise Auchère; Maria Lönn; Arne Holmgren; Pierre Rustin
Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia.
PloS one 2009;4(1):e4253.
2009: Paule Bénit; Sophie Lebon; Pierre Rustin
Respiratory-chain diseases related to complex III deficiency.
Biochimica et biophysica acta 2009;1793(1):181-5.
2008: Crystel Bonnet; Sébastien Augustin; Sami Ellouze; Paule Bénit; Aicha Bouaita; Pierre Rustin; José-Alain Sahel; Marisol Corral-Debrinski
The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes.
Biochimica et biophysica acta 2008;1783(10):1707-17.
2008: Paule Bénit; Abdelhamid Slama; Pierre Rustin
Decylubiquinol impedes mitochondrial respiratory chain complex I activity.
Molecular and cellular biochemistry 2008;314(1-2):45-50.
2008: Emmanuel Philippe Dassa; Vincent Paupe; Sergio Gonçalves; Pierre Rustin
The mtDNA NARP mutation activates the actin-Nrf2 signaling of antioxidant defenses.
Biochemical and biophysical research communications 2008;368(3):620-4.
2008: Annalisa Lorenzato; Martina Olivero; Mario Perro; Jean-Jacques Briere; Pierre Rustin; Maria Flavia Di Renzo
A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein.
International journal of cancer. Journal international du cancer 2008;122(4):947-51.
2008: Paule Bénit; Sergio Goncalves; Emmanuel Philippe Dassa; Jean-Jacques Briere; Pierre Rustin
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes.
PloS one 2008;3(9):e3208.
2008: Barbara Pasini; Sarah R McWhinney; Thalia Bei; Ludmila Matyakhina; Sotirios Stergiopoulos; michael muchow; Sosipatros Boikos; Barbara Ferrando; Karel Pacak; Guillaume Assie; Eric Baudin; Agnès Chompret; Jay W Ellison; Jean-Jacques Briere; Pierre Rustin; Anne-Paule Gimenez-Roqueplo; Charis Eng; J Aidan Carney; Constantine Straturis
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, and SDHD.
European journal of human genetics : EJHG 2008;16(1):79-88.
2007: J Andrew Pospisilik; Claude Knauf; Nicholas Joza; Paule Benit; Michael Orthofer; Patrice Cani; Ingo Ebersberger; Tomoki Nakashima; Renu Sarao; Gregory Neely; Harald Esterbauer; Andrey Kozlov; C Ronald Kahn; Guido Kroemer; Pierre Rustin; Rémy Burcelin; Josef M Penninger
Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes.
Cell 2007;131(3):476-91.
2007: Vincent El Ghouzzi; Zsolt Csaba; Paul Olivier; Benjamin Lelouvier; Leslie Schwendimann; Pascal Dournaud; Catherine Verney; Pierre Rustin; Pierre Gressens
Apoptosis-inducing factor deficiency induces early mitochondrial degeneration in brain followed by progressive multifocal neuropathology.
Journal of neuropathology and experimental neurology 2007;66(9):838-47.
2007: Crystel Bonnet; Valérie Kaltimbacher; Sami Ellouze; Sébastien Augustin; Paule Bénit; Valérie Forster; Pierre Rustin; José-Alain Sahel; Marisol Corral-Debrinski
Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits.
Rejuvenation research 2007;10(2):127-44.
2007: Pierre Rustin; Howard T Jacobs; André Dietrich; Robert N Lightowlers; Ivan Tarassov; Marisol Corral-Debrinski
[Targeting allotopic material to the mitochondrial compartment: new tools for better understanding mitochondrial physiology and prospect for therapy].
Médecine sciences : M/S 2007;23(5):519-25.
2007: Annie Borgne-Sanchez; S Dupont; Alain Langonné; L Baux; Hervé Lecoeur; David Chauvier; M Lassalle; Olivier DEAS; Jean-Jacques Briere; M Brabant; P Roux; C Péchoux; Jean-Paul Briand; J Hoebeke; Aurélien Deniaud; catherine brenner; Pierre Rustin; Léna Edelman; Dominique Rebouillat; Etienne Jacotot
Targeted Vpr-derived peptides reach mitochondria to induce apoptosis of alphaVbeta3-expressing endothelial cells.
Cell death and differentiation 2007;14(3):422-35.
2007: Pierre Rustin; G Kroemer
Mitochondria and cancer.
Ernst Schering Foundation symposium proceedings 2007;(4):1-21.
2006: Paule Bénit; Sergio Goncalves; Emmanuel Philippe Dassa; Jean-Jacques Briere; Gail Martin; Pierre Rustin
Three spectrophotometric assays for the measurement of the five respiratory chain complexes in minuscule biological samples.
Clinica chimica acta; international journal of clinical chemistry 2006;374(1-2):81-6.
2006: Jean-Jacques Briere; Judith Favier; Anne-Paule Gimenez-Roqueplo; Pierre Rustin
Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.
American journal of physiology. Cell physiology 2006;291(6):C1114-20.
2006: Delphine Poncet; Anne-Laure Pauleau; Gyorgy Szabadkai; Angelo Vozza; Sebastian R Scholz; Morgane Le Bras; Jean-Jacques Briere; Abdelali JALIL; Ronan Le Moigne; catherine brenner; Gabriele Hahn; Ilka Wittig; Hermann Schägger; Christophe Lemaire; Katiuscia Bianchi; Sylvie Souquère; Gérard Pierron; Pierre Rustin; Victor S Goldmacher; Rosario Rizzuto; Ferdinando Palmieri; Guido Kroemer
Cytopathic effects of the cytomegalovirus-encoded apoptosis inhibitory protein vMIA.
The Journal of cell biology 2006;174(7):985-96.
2006: Angels Garcia-Cazorla; Pascale de Lonlay; Pierre Rustin; Dominique Chretien; Guy Touati; Daniel Rabier; Abdelhamid Slama; Jean-Marie Saudubray
Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.
The Journal of pediatrics 2006;149(3):401-405.
2006: Doris Brown; Benjamin Yu; Nicholas Joza; Paule Bénit; Juanito J Meneses; Meri T Firpo; Pierre Rustin; Josef M Penninger; Gail R Martin
Loss of Aif function causes cell death in the mouse embryo, but the temporal progression of patterning is normal.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(26):9918-23.
2006: Christine Barnérias; Irina Giurgea; Lucie Hertz-Pannier; Nadia Bahi-Buisson; Nathalie Boddaert; Pierre Rustin; Agnés Rotig; Isabelle Desguerre; Arnold Munnich; Pascale de Lonlay
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Developmental medicine and child neurology 2006;48(3):227-30.
2005: Nicholas Joza; Gavin Y Oudit; Doris Brown; Paule Bénit; Zamaneh Kassiri; Nicola Vahsen; Loralyn Benoit; Mikin M Patel; Karin Nowikovsky; Anne Vassault; Peter H Backx; Teiji Wada; Guido Kroemer; Pierre Rustin; Josef M Penninger
Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy.
Molecular and cellular biology 2005;25(23):10261-72.
2005: Abdelhamid Slama; Irina Giurgea; D Debrey; D Bridoux; Pascale de Lonlay; P Levy; Dominique Chretien; Michèle Brivet; Alain Legrand; Pierre Rustin; A Munnich; Agnès Rötig
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
Molecular genetics and metabolism 2005;86(4):462-5.
2005: Jean-Jacques Briere; Judith Favier; Paule Bénit; Vincent El Ghouzzi; Annalisa Lorenzato; Daniel Rabier; Maria Flavia Di Renzo; Anne-Paule Gimenez-Roqueplo; Pierre Rustin
Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.
Human molecular genetics 2005;14(21):3263-9.
2005: Jean-Jacques Briere; Judith Favier; Vincent El Ghouzzi; F Djouadi; Paule Bénit; A-P Gimenez; Pierre Rustin
Succinate dehydrogenase deficiency in human.
Cellular and molecular life sciences : CMLS 2005;62(19-20):2317-24.
2005: Fanny Mochel; Abdelhamid Slama; Guy Touati; Isabelle Desguerre; Irina Giurgea; Daniel Rabier; Michèle Brivet; Pierre Rustin; Jean-Marie Saudubray; Pascale DeLonlay
Respiratory chain defects may present only with hypoglycemia.
The Journal of clinical endocrinology and metabolism 2005;90(6):3780-5.
2005: Alice Goldenberg; Linh Huynh Ngoc; Marie-Christine Thouret; Valérie Cormier-Daire; Marie-France Gagnadoux; Dominique Chrétien; Catherine Lefrançois; Vanna Geromel; Agnès Rötig; Pierre Rustin; Arnold Munnich; Véronique Paquis; Corinne Antignac; Marie-Claire Gubler; Patrick Niaudet; Pascale de Lonlay; Etienne Bérard
Respiratory chain deficiency presenting as congenital nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 2005;20(4):465-9.
2005: Marie-Hélène Odièvre; Dominique Chretien; Arnold Munnich; Brian H Robinson; Renée Dumoulin; Sahben Masmoudi; Noman Kadhom; Agnès Rötig; Pierre Rustin; Jean-Paul Bonnefont
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Human mutation 2005;25(3):323-4.
2005: Florence Molinari; Annick Raas-Rothschild; Marlène Rio; Giuseppe Fiermonte; Férechté Encha-Razavi; Luigi Palmieri; Ferdinando Palmieri; Ziva Ben-Neriah; Noman Kadhom; Michel Vekemans; Tania Attie-Bitach; Arnold Munnich; Pierre Rustin; Laurence Colleaux
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
American journal of human genetics 2005;76(2):334-9.
2005: Judith Favier; Jean-Jacques Briere; Laurence Strompf; Laurence Amar; Mounir Filali; Xavier Jeunemaitre; Pierre Rustin; Anne-Paule Gimenez-Roqueplo
Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.
Hormone research 2005;63(4):171-9.
2004: Jean-Jacques Briere; Dominique Chrétien; Paule Bénit; Pierre Rustin
Respiratory chain defects: what do we know for sure about their consequences in vivo?
Biochimica et biophysica acta 2004;1659(2-3):172-7.
2004: Nicola Vahsen; Céline Candé; Jean-Jacques Briere; Paule Bénit; Nicholas Joza; Nathanael Larochette; Pier Giorgio Mastroberardino; Marie O Pequignot; Noelia Casares; Vladimir Lazar; Olivier FERAUD; Najet Debili; Silke Wissing; Silvia M Engelhardt; Frank Madeo; Mauro Piacentini; Josef M Penninger; Hermann Schägger; Pierre Rustin; Guido Kroemer
AIF deficiency compromises oxidative phosphorylation.
The EMBO journal 2004;23(23):4679-89.
2004: Marie Chol; Nathalie Nevo; Stéphanie Cherqui; Corinne Antignac; Pierre Rustin
Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines.
Biochemical and biophysical research communications 2004;324(1):231-5.
2004: Stefan Kerscher; Paule Bénit; Albina Abdrakhmanova; Klaus Zwicker; Isam Rais; Michael Karas; Pierre Rustin; Ulrich Brandt
Processing of the 24 kDa subunit mitochondrial import signal is not required for assembly of functional complex I in Yarrowia lipolytica.
European journal of biochemistry / FEBS 2004;271(17):3588-95.
2004: Jean-Jacques Briere; Dimitri Schlemmer; Dominique Chretien; Pierre Rustin
Quinone analogues regulate mitochondrial substrate competitive oxidation.
Biochemical and biophysical research communications 2004;316(4):1138-42.
2004: Hervé Lecoeur; Alain Langonné; Ludwig Baux; Dominique Rebouillat; Pierre Rustin; Marie-Christine Prévost; catherine brenner; Léna Edelman; Etienne Jacotot
Real-time flow cytometry analysis of permeability transition in isolated mitochondria.
Experimental cell research 2004;294(1):106-17.
2004: Sandrine Haut; Thierry Billette de Villemeur; Michèle Brivet; Anne Guiochon-Mantel; Audrey Boutron; Pierre Rustin; Alain Legrand; Abdelhamid Slama
The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.
European journal of human genetics : EJHG 2004;12(3):220-4.
2004: Siôn L Williams; Isabelle Valnot; Pierre Rustin; Jan-Willem Taanman
Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1.
The Journal of biological chemistry 2004;279(9):7462-9.
2004: Pierre Rustin; Arnold Munnich; Agnès Rötig
Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency.
Methods in enzymology 2004;382():81-8.
2004: Dominique Chretien; Abdelhamid Slama; Jean-Jacques Briere; Arnold Munnich; Agnès Rötig; Pierre Rustin
Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples.
Current medicinal chemistry 2004;11(2):233-9.
2004: Paule Bénit; Abdelhamid Slama; F Cartault; Irina Giurgea; Dominique Chretien; Sophie Lebon; Cécile Marsac; Arnold Munnich; Agnès Rötig; Pierre Rustin
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
Journal of medical genetics 2004;41(1):14-7.
2003: Sophie Lebon; Marie Chol; Paule Benit; Claude Mugnier; Dominique Chretien; Irina Giurgea; I Kern; E Girardin; Lucie Hertz-Pannier; Pascale de Lonlay; Agnès Rötig; Pierre Rustin; Arnold Munnich
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Journal of medical genetics 2003;40(12):896-9.
2003: Grégory Durand; Ange Polidori; Olivier Ouari; Paul Tordo; Vanna Geromel; Pierre Rustin; Bernard Pucci
Synthesis and preliminary biological evaluations of ionic and nonionic amphiphilic alpha-phenyl-N-tert-butylnitrone derivatives.
Journal of medicinal chemistry 2003;46(24):5230-7.
2003: Niklas Darin; Noman Kadhom; Jean-Jacques Briere; Dominique Chretien; Cécile M Bébéar; Agnès Rötig; Arnold Munnich; Pierre Rustin
Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis.
BMC biochemistry 2003;4():15.
2003: Anne-Paule Gimenez-Roqueplo; Judith Favier; Pierre Rustin; Claudine Rieubland; Malvina Crespin; Valérie Nau; Philippe Khau van Kien; Pierre Corvol; Pierre-François Plouin; Xavier Jeunemaitre
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.
Cancer research 2003;63(17):5615-21.
2003: Béatrice Barret; Marc Tardieu; Pierre Rustin; Catherine Lacroix; Brigitte Chabrol; Isabelle Desguerre; Catherine Dollfus; Marie-Jeanne Mayaux; Stéphane Blanche
Persistent mitochondrial dysfunction in HIV-1-exposed but uninfected infants: clinical screening in a large prospective cohort.
AIDS (London, England) 2003;17(12):1769-85.
2003: Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Géraldine Viot; Alice Goldenberg; Becky Mardach; Jeanne Amiel; Philippe Saada; Yves Dumez; Francis Brunelle; Jean-Marie Saudubray; Dominique Chrétien; Agnès Rötig; Pierre Rustin; Arnold Munnich; Pascale de Lonlay
Antenatal manifestations of mitochondrial respiratory chain deficiency.
The Journal of pediatrics 2003;143(2):208-12.
2003: Bruno Guéry; Gabriel Choukroun; Laure-Hélène Noël; Pierre Clavel; Agnès Rötig; Sophie Lebon; Pierre Rustin; Christine Bellané-Chantelot; Béatrice Mougenot; Jean-Pierre Grünfeld; Dominique Chauveau
The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation.
Journal of the American Society of Nephrology : JASN 2003;14(8):2099-108.
2003: Sandrine Haut; Michèle Brivet; Guy Touati; Pierre Rustin; Sophie Lebon; Angels Garcia-Cazorla; Jean-Marie Saudubray; Audrey Boutron; Alain Legrand; Abdelhamid Slama
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.
Human genetics 2003;113(2):118-22.
2003: Paule Bénit; Réjane Beugnot; Dominique Chretien; Irina Giurgea; Pascale De Lonlay-Debeney; Jean-Paul Issartel; Marisol Corral-Debrinski; Stefan Kerscher; Pierre Rustin; Agnès Rötig; Arnold Munnich
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
Human mutation 2003;21(6):582-6.
2003: Paule Bénit; Julie Steffann; Sophie Lebon; Dominique Chretien; Noman Kadhom; Pascale de Lonlay; Alice Goldenberg; Yves Dumez; Marc Dommergues; Pierre Rustin; Arnold Munnich; Agnès Rötig
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
Human genetics 2003;112(5-6):563-6.
2003: Marie Chol; Sophie Lebon; Paule Bénit; Dominique Chretien; Pascale de Lonlay; Alice Goldenberg; Sylvie Odent; Lucie Hertz-Pannier; C Vincent-Delorme; Valérie Cormier-Daire; Pierre Rustin; Agnès Rötig; Arnold Munnich
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
Journal of medical genetics 2003;40(3):188-91.
2003: Dominique Chretien; Paule Bénit; Marie Chol; Sophie Lebon; Agnès Rötig; Arnold Munnich; Pierre Rustin
Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts.
Biochemical and biophysical research communications 2003;301(1):222-4.
2003: Dominique Chretien; Pierre Rustin
Mitochondrial oxidative phosphorylation: pitfalls and tips in measuring and interpreting enzyme activities.
Journal of inherited metabolic disease 2003;26(2-3):189-98.
2002: Pascale de Lonlay; Claude Mugnier; Damien Sanlaville; Karine Chantrel-Groussard; Paule Bénit; Sophie Lebon; Dominique Chrétien; Noman Kadhom; Safa Saker; Gabor Gyapay; Serge Romana; Jean Weissenbach; Arnold Munnich; Pierre Rustin; Agnès Rötig
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.
Human molecular genetics 2002;11(26):3273-81.
2002: Anne-Paule Gimenez-Roqueplo; Judith Favier; Pierre Rustin; Claudine Rieubland; Véronique Kerlan; Pierre-François Plouin; Agnès Rötig; Xavier Jeunemaitre
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.
The Journal of clinical endocrinology and metabolism 2002;87(10):4771-4.
2002: Vanna Geromel; Niklas Darin; Dominique Chrétien; Paule Bénit; Pascale DeLonlay; Agnès Rötig; Arnold Munnich; Pierre Rustin
Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits.
Molecular genetics and metabolism 2002;77(1-2):21-30.
2002: Pierre Rustin; Arnold Munnich; Agnès Rötig
Succinate dehydrogenase and human diseases: new insights into a well-known enzyme.
European journal of human genetics : EJHG 2002;10(5):289-91.
2002: Agnès Rötig; Daniel Sidi; Arnold Munnich; Pierre Rustin
Molecular insights into Friedreich's ataxia and antioxidant-based therapies.
Trends in molecular medicine 2002;8(5):221-4.
2002: Pierre Rustin; Agnès Rötig; Arnold Munnich; Daniel Sidi
Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia.
Free radical research 2002;36(4):467-9.
2002: Vanna Geromel; Agnès Rötig; Arnold Munnich; Pierre Rustin
Coenzyme Q10 depletion is comparatively less detrimental to human cultured skin fibroblasts than respiratory chain complex deficiencies.
Free radical research 2002;36(4):375-9.
2002: Ana Hausse; Yacine Aggoun; Damien Bonnet; Daniel Sidi; Arnold Munnich; Agnès Rötig; Pierre Rustin
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia.
Heart (British Cardiac Society) 2002;87(4):346-9.
2002: Antoni Barrientos; Mario H Barros; Isabelle Valnot; Agnès Rötig; Pierre Rustin; Alexander Tzagoloff
Cytochrome oxidase in health and disease.
Gene 2002;286(1):53-63.
2002: Pierre Rustin; Agnès Rötig
Inborn errors of complex II--unusual human mitochondrial diseases.
Biochimica et biophysica acta 2002;1553(1-2):117-22.
2002: Agnès Rötig; Arnold Munnich; Pierre Rustin
Expressed sequence tag database screening for identification of human genes.
Methods in enzymology 2002;353():566-74.
2001: Anne-Paule Gimenez-Roqueplo; Judith Favier; Pierre Rustin; J J Mourad; Pierre-François Plouin; Pierre Corvol; Agnès Rötig; Xavier Jeunemaitre
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.
American journal of human genetics 2001;69(6):1186-97.
2001: Karine Chantrel-Groussard; Vanna Geromel; H Puccio; M Koenig; Arnold Munnich; Agnès Rötig; Pierre Rustin
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia.
Human molecular genetics 2001;10(19):2061-7.
2001: Pascale de Lonlay; Isabelle Valnot; Antoni Barrientos; M Gorbatyuk; Alexander Tzagoloff; Jan-Willem Taanman; E Benayoun; Dominique Chrétien; Noman Kadhom; Anne Lombès; Hélène Ogier de Baulny; Patrick Niaudet; Arnold Munnich; Pierre Rustin; Agnès Rötig
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
Nature genetics 2001;29(1):57-60.
2001: Vanna Geromel; Noman Kadhom; Irène Ceballos-Picot; Dominique Chrétien; Arnold Munnich; Agnès Rötig; Pierre Rustin
Human cultured skin fibroblasts survive profound inherited ubiquinone depletion.
Free radical research 2001;35(1):11-21.
2001: Jeanne Amiel; Nadine Gigarel; A Benacki; Paule Benit; Isabelle Valnot; B Parfait; Jürgen-Christoph von Kleist-Retzow; Valérie Raclin; Smaïl Hadj-Rabia; Yves Dumez; Pierre Rustin; Jean-Paul Bonnefont; Arnold Munnich; Agnès Rötig
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
Prenatal diagnosis 2001;21(7):602-4.
2001: M Gauthier-Villars; P Landrieu; Valérie Cormier-Daire; Emmanuel Jacquemin; Dominique Chrétien; Agnès Rötig; Pierre Rustin; Arnold Munnich; Pascale de Lonlay
Respiratory chain deficiency in Alpers syndrome.
Neuropediatrics 2001;32(3):150-2.
2001: Paule Bénit; Dominique Chretien; Noman Kadhom; Pascale De Lonlay-Debeney; Valérie Cormier-Daire; A Cabral; Sylviane Peudenier; Pierre Rustin; Arnold Munnich; Agnès Rötig
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
American journal of human genetics 2001;68(6):1344-52.
2001: Vanna Geromel; Noman Kadhom; I Cebalos-Picot; Olivier Ouari; Ange Polidori; Arnold Munnich; Agnès Rötig; Pierre Rustin
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.
Human molecular genetics 2001;10(11):1221-8.
2001: Agnès Rötig; Karine Chantrel-Groussard; Arnold Munnich; Pierre Rustin
Expression study of genes involved in iron metabolism in human tissues.
Biochemical and biophysical research communications 2001;281(3):804-9.
2001: Etienne Jacotot; Karine F Ferri; Chahrazed El Hamel; catherine brenner; Sabine Druillennec; J Hoebeke; Pierre Rustin; Didier Métivier; Christine Lenoir; M Geuskens; Helena L A Vieira; M Loeffler; Anne-Sophie Belzacq; Jean-Paul Briand; Naoufal Zamzami; Léna Edelman; ZH Xie; JC Reed; Bernard P Roques; Guido Kroemer
Control of mitochondrial membrane permeabilization by adenine nucleotide translocator interacting with HIV-1 viral protein rR and Bcl-2.
The Journal of experimental medicine 2001;193(4):509-19.
2001: Jürgen-Christoph von Kleist-Retzow; J Yao; Jan-Willem Taanman; K Chantrel; Dominique Chretien; Valérie Cormier-Daire; Agnès Rotig; Arnold Munnich; Pierre Rustin; E A Shoubridge
Mutations in SURF1 are not specifically associated with Leigh syndrome.
Journal of medical genetics 2001;38(2):109-13.
2001: Arnold Munnich; Pierre Rustin
Clinical spectrum and diagnosis of mitochondrial disorders.
American journal of medical genetics 2001;106(1):4-17.
2000: Isabelle Valnot; S Osmond; Nadine Gigarel; B Mehaye; Jeanne Amiel; Valérie Cormier-Daire; Arnold Munnich; Jean-Paul Bonnefont; Pierre Rustin; Agnès Rötig
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
American journal of human genetics 2000;67(5):1104-9.
2000: Laurence Faivre; Valérie Cormier-Daire; Dominique Chrétien; J Christoph von Kleist-Retzow; Jeanne Amiel; Marc Dommergues; Jean-Marie Saudubray; Yves Dumez; Agnès Rötig; Pierre Rustin; Arnold Munnich
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
Prenatal diagnosis 2000;20(9):732-7.
2000: Agnès Rötig; EL Appelkvist; Vanna Geromel; Dominique Chretien; Noman Kadhom; P Edery; M Lebideau; Gustav Dallner; Arnold Munnich; L Ernster; Pierre Rustin
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.
Lancet 2000;356(9227):391-5.
2000: Isabelle Valnot; Jürgen-Christoph von Kleist-Retzow; Antoni Barrientos; M Gorbatyuk; Jan-Willem Taanman; B Mehaye; Pierre Rustin; Alexander Tzagoloff; Arnold Munnich; Agnès Rötig
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
Human molecular genetics 2000;9(8):1245-9.
2000: Pierre Rustin; Jürgen-Christoph von Kleist-Retzow; Z Vajo; Agnès Rotig; Arnold Munnich
For debate: defective mitochondria, free radicals, cell death, aging-reality or myth-ochondria?
Mechanisms of ageing and development 2000;114(3):201-6.
2000: Jürgen-Christoph von Kleist-Retzow; Karine Chantrel-Groussard; Agnès Rötig; Arnold Munnich; Pierre Rustin
[Friedreich ataxia. 3 years after the identification of the gene a glimmer of hope for therapy].
Deutsche medizinische Wochenschrift (1946) 2000;125(10):293-5.
2000: Agnès Rötig; Isabelle Valnot; Claude Mugnier; Pierre Rustin; Arnold Munnich
Screening human EST database for identification of candidate genes in respiratory chain deficiency.
Molecular genetics and metabolism 2000;69(3):223-32.
2000: B Parfait; Dominique Chretien; Agnès Rötig; Cécile Marsac; Arnold Munnich; Pierre Rustin
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
Human genetics 2000;106(2):236-43.
2000: Francois Gilles BRIVET; I Nion; Bruno Mégarbane; Abdelhamid Slama; Michèle Brivet; Pierre Rustin; A Munnich
Fatal lactic acidosis and liver steatosis associated with didanosine and stavudine treatment: a respiratory chain dysfunction?
Journal of hepatology 2000;32(2):364-5.
2000: Pascale De Lonlay-Debeney; Jürgen-Christoph von Kleist-Retzow; Lucie Hertz-Pannier; Sylviane Peudenier; Valérie Cormier-Daire; P Berquin; Dominique Chrétien; Agnès Rötig; Jean-Marie Saudubray; J Baraton; Francis Brunelle; Pierre Rustin; M Van Der Knaap; Arnold Munnich
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.
The Journal of pediatrics 2000;136(2):209-14.
1999: Stéphane Blanche; Marc Tardieu; Pierre Rustin; Abdelhamid Slama; Béatrice Barret; Ghislaine Firtion; Nicole Ciraru-Vigneron; Catherine Lacroix; Christine Rouzioux; Laurent Mandelbrot; Isabelle Desguerre; Agnès Rötig; Marie-Jeanne Mayaux; Jean-François Delfraissy
Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues.
Lancet 1999;354(9184):1084-9.
1999: Jürgen-Christoph von Kleist-Retzow; Elodie Vial; Karine Chantrel-Groussard; Agnès Rötig; Arnold Munnich; Pierre Rustin; Jan-Willem Taanman
Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency.
Biochimica et biophysica acta 1999;1455(1):35-44.
1999: Pierre Rustin; Jürgen-Christoph von Kleist-Retzow; Karine Chantrel-Groussard; Daniel Sidi; Arnold Munnich; Agnès Rötig
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study.
Lancet 1999;354(9177):477-9.
1999: Isabelle Valnot; J Kassis; Dominique Chretien; Pascale de Lonlay; B Parfait; Arnold Munnich; J Kachaner; Pierre Rustin; Agnès Rötig
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency.
Human genetics 1999;104(6):460-6.
1999: Pascale De Lonlay-Debeney; P Edery; Valérie Cormier-Daire; B Parfait; Dominique Chrétien; Agnès Rötig; N Romero; Jean-Marie Saudubray; Arnold Munnich; Pierre Rustin
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.
Neuropediatrics 1999;30(1):42-4.
1999: Christine Bodemer; Agnès Rötig; Pierre Rustin; V Cormier; Patrick Niaudet; Jean-Marie Saudubray; Daniel Rabier; Arnold Munnich; Yves de Prost
Hair and skin disorders as signs of mitochondrial disease.
Pediatrics 1999;103(2):428-33.
1999: Bruno Mégarbane; C Fromont; I Nion; Isabelle Chary; Olivier Axler; Abdelhamid Slama; Michèle Brivet; Pierre Rustin; A Munnich; Francois Gilles BRIVET
[A very, very short of breath HIV-infected patient].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 1999;20 Suppl 2():256s-259s.
1999: Pierre Rustin; Arnold Munnich; Agnès Rötig
Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron-induced injury in vitro.
BioFactors (Oxford, England) 1999;9(2-4):247-51.
1999: B Parfait; Pascale de Lonlay; Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Dominique Chrétien; Agnès Rötig; Daniel Rabier; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
European journal of pediatrics 1999;158(1):55-8.
1998: Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Pascale de Lonlay; B Parfait; Dominique Chretien; Pierre Rustin; J Feingold; Agnès Rötig; Arnold Munnich
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.
American journal of human genetics 1998;63(2):428-35.
1998: B Parfait; Pierre Rustin; Arnold Munnich; Agnès Rötig
Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations.
Biochemical and biophysical research communications 1998;247(1):57-9.
1998: Daniel Rabier; C Diry; A Rotig; Pierre Rustin; B Heron; J Bardet; P Parvy; Gérard Ponsot; Cécile Marsac; Jean-Marie Saudubray; Arnold Munnich; Pierre Kamoun
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
Journal of inherited metabolic disease 1998;21(3):216-9.
1998: Damien Bonnet; Pascale de Lonlay; I Gautier; Pierre Rustin; Agnès Rötig; Jean Kachaner; Philippe Acar; J LeBidois; Arnold Munnich; Daniel Sidi
Efficiency of metabolic screening in childhood cardiomyopathies.
European heart journal 1998;19(5):790-3.
1998: Pierre Rustin; Jürgen-Christoph von Kleist-Retzow; Agnès Rötig; A Munnich
Iron overload and mitochondrial diseases.
Lancet 1998;351(9111):1286-7.
1998: Dominique Chretien; J Gallego; Antoni Barrientos; J Casademont; F Cardellach; Arnold Munnich; Agnès Rötig; Pierre Rustin
Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes.
The Biochemical journal 1998;329 ( Pt 2)():249-54.
1997: B Parfait; A Percheron; Dominique Chretien; Pierre Rustin; Arnold Munnich; Agnès Rötig
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.
Human genetics 1997;101(2):247-50.
1997: Agnès Rötig; Pascale de Lonlay; Dominique Chretien; F Foury; M Koenig; Daniel Sidi; Arnold Munnich; Pierre Rustin
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
Nature genetics 1997;17(2):215-7.
1997: Pierre Rustin; Dominique Chretien; B Parfait; Agnès Rötig; Arnold Munnich
Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes.
Molecular and cellular biochemistry 1997;174(1-2):115-9.
1997: Pierre Rustin; Thomas Bourgeron; B Parfait; Dominique Chretien; Arnold Munnich; Agnès Rötig
Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.
Biochimica et biophysica acta 1997;1361(2):185-97.
1997: Vanna Geromel; B Parfait; Jürgen-Christoph von Kleist-Retzow; Dominique Chretien; Arnold Munnich; Agnès Rötig; Pierre Rustin
The consequences of a mild respiratory chain deficiency on substrate competitive oxidation in human mitochondria.
Biochemical and biophysical research communications 1997;236(3):643-6.
1997: Agnès Rötig; B Parfait; L Heidet; G Dujardin; Pierre Rustin; Arnold Munnich
Sequence and structure of the human OXA1L gene and its upstream elements.
Biochimica et biophysica acta 1997;1361(1):6-10.
1996: Valérie Cormier-Daire; Pierre Rustin; Agnès Rötig; Dominique Chrétien; Martine Le Merrer; D Belli; A Le Goff; Philippe Hubert; C Ricour; Arnold Munnich
Craniofacial anomalies and malformations in respiratory chain deficiency.
American journal of medical genetics 1996;66(4):457-63.
1996: Pierre Rustin; B Parfait; Dominique Chretien; Thomas Bourgeron; Fatima Djouadi; Jean Bastin; Agnès Rötig; Arnold Munnich
Fluxes of nicotinamide adenine dinucleotides through mitochondrial membranes in human cultured cells.
The Journal of biological chemistry 1996;271(25):14785-90.
1996: A Munnich; Agnès Rötig; Dominique Chretien; Jean-Marie Saudubray; V Cormier; Pierre Rustin
Clinical presentations and laboratory investigations in respiratory chain deficiency.
European journal of pediatrics 1996;155(4):262-74.
1996: M A Birch-Machin; C Marsac; Gérard Ponsot; B Parfait; R W Taylor; Pierre Rustin; Arnold Munnich
Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain.
Biochemical and biophysical research communications 1996;220(1):57-62.
1996: A Munnich; Agnès Rötig; Dominique Chretien; V Cormier; Thomas Bourgeron; Jean-Paul Bonnefont; Jean-Marie Saudubray; Pierre Rustin
Clinical presentation of mitochondrial disorders in childhood.
Journal of inherited metabolic disease 1996;19(4):521-7.
1995: Thomas Bourgeron; Pierre Rustin; Dominique Chretien; M Birch-Machin; M Bourgeois; E Viegas-Péquignot; Arnold Munnich; Agnès Rötig
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.
Nature genetics 1995;11(2):144-9.
1995: Dominique Chretien; M Pourrier; Thomas Bourgeron; M Séné; Agnès Rötig; Arnold Munnich; Pierre Rustin
An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscle.
Clinica chimica acta; international journal of clinical chemistry 1995;240(2):129-36.
1995: I Goncalves; D Hermans; Dominique Chretien; Pierre Rustin; A Munnich; J M Saudubray; François Van Hoof; R Reding; J de Ville de Goyet; J B Otte
Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency.
Journal of hepatology 1995;23(3):290-4.
1995: Agnès Rötig; Thomas Bourgeron; Dominique Chretien; Pierre Rustin; Arnold Munnich
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
Human molecular genetics 1995;4(8):1327-30.
1995: P Saunier; Dominique Chretien; C Wood; A Rötig; Jean-Paul Bonnefont; J M Saudubray; D Rabier; A Munnich; Pierre Rustin
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria.
Neuromuscular disorders : NMD 1995;5(4):285-9.
1995: Agnès Rötig; F Goutières; P Niaudet; Pierre Rustin; Dominique Chretien; G Guest; Jacqueline Mikol; M C Gubler; Arnold Munnich
Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis.
The Journal of pediatrics 1995;126(4):597-601.
1995: A Rötig; Pierre Rustin; T Bourgeron; A A Munnich
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome.
Muscle & nerve. Supplement 1995;(3):S159-64.
1995: Agnès Rötig; A Lehnert; Pierre Rustin; Dominique Chretien; Thomas Bourgeron; P Niaudet; A Munnich
Kidney involvement in mitochondrial disorders.
Advances in nephrology from the Necker Hospital 1995;24():367-78.
1995: Agnès Rötig; Thomas Bourgeron; Pierre Rustin; Arnold Munnich
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome.
Muscle & nerve. Supplement 1995;3():S159-64.
1994: Fatima Djouadi; Jean Bastin; Thierry Gilbert; Agnès Rötig; Pierre Rustin; C Merlet-Benichou
Mitochondrial biogenesis and development of respiratory chain enzymes in kidney cells: role of glucocorticoids.
The American journal of physiology 1994;267(1 Pt 1):C245-54.
1994: Dominique Chretien; Pierre Rustin; Thomas Bourgeron; Agnès Rötig; Jean-Marie Saudubray; Arnold Munnich
Reference charts for respiratory chain activities in human tissues.
Clinica chimica acta; international journal of clinical chemistry 1994;228(1):53-70.
1994: Pierre Rustin; Dominique Chretien; Thomas Bourgeron; B Gérard; Agnès Rötig; Jean-Marie Saudubray; Arnold Munnich
Biochemical and molecular investigations in respiratory chain deficiencies.
Clinica chimica acta; international journal of clinical chemistry 1994;228(1):35-51.
1994: Thomas Bourgeron; Dominique Chretien; J Poggi-Bach; S Doonan; D Rabier; P Letouzé; A Munnich; Agnès Rötig; P Landrieu; Pierre Rustin
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
The Journal of clinical investigation 1994;93(6):2514-8.
1994: Pierre Rustin; J Lebidois; Dominique Chretien; Thomas Bourgeron; J F Piechaud; Agnès Rötig; Arnold Munnich; Daniel Sidi
Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies.
The Journal of pediatrics 1994;124(2):224-8.
1994: Brigitte Chabrol; Josette Mancini; Dominique Chretien; Pierre Rustin; A Munnich; N Pinsard
Valproate-induced hepatic failure in a case of cytochrome c oxidase deficiency.
European journal of pediatrics 1994;153(2):133-5.
1994: Valérie Cormier-Daire; Jean-Paul Bonnefont; Pierre Rustin; C Maurage; H Ogler; J Schmitz; C Ricour; J M Saudubray; A Munnich; Agnès Rötig
Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy.
The Journal of pediatrics 1994;124(1):63-70.
1993: Thomas Bourgeron; Dominique Chretien; Agnès Rötig; Arnold Munnich; Pierre Rustin
Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures.
The Journal of biological chemistry 1993;268(26):19369-76.
1993: Thomas Bourgeron; Dominique Chretien; P Amati; Agnès Rötig; Arnold Munnich; Pierre Rustin
Expression of respiratory chain deficiencies in human cultured cells.
Neuromuscular disorders : NMD 1993;3(5-6):605-8.
1993: Pierre Rustin; Dominique Chretien; Thomas Bourgeron; J LeBidois; Daniel Sidi; Agnès Rötig; Arnold Munnich
Investigation of respiratory chain activity in human heart.
Biochemical medicine and metabolic biology 1993;50(1):120-6.
1993: Agnès Rötig; V Cormier; P Chatelain; R Francois; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).
The Journal of clinical investigation 1993;91(3):1095-8.
1993: B Gérard; Thomas Bourgeron; Dominique Chretien; Agnès Rötig; Arnold Munnich; Pierre Rustin
Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts.
European journal of pediatrics 1993;152(3):270.
1993: Pierre Rustin; J Lebidois; Dominique Chretien; Thomas Bourgeron; J F Piechaud; Agnès Rötig; Daniel Sidi; Arnold Munnich
The investigation of respiratory chain disorders in heart using endomyocardial biopsies.
Journal of inherited metabolic disease 1993;16(3):541-4.
1993: Agnès Rötig; V Cormier; P Chatelain; R Francois; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome).
Journal of inherited metabolic disease 1993;16(3):527-30.
1992: M Burgeois; F Goutieres; Dominique Chretien; Pierre Rustin; A Munnich; J Aicardi
Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.
Brain & development 1992;14(6):404-8.
1992: Jean-Paul Bonnefont; Dominique Chretien; Pierre Rustin; B Robinson; A Vassault; J Aupetit; C Charpentier; Daniel Rabier; J M Saudubray; Arnold Munnich
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.
The Journal of pediatrics 1992;121(2):255-8.
1992: Thomas Bourgeron; Dominique Chretien; Agnès Rötig; Arnold Munnich; Pierre Rustin
Isolation and characterization of mitochondria from human B lymphoblastoid cell lines.
Biochemical and biophysical research communications 1992;186(1):16-23.
1992: Thomas Bourgeron; Dominique Chrétien; Agnès Rötig; Arnold Munnich; Pierre Rustin
Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous.
Prenatal diagnosis 1992;12(6):548-9.
1992: Daniel Sidi; Jérôme Le Bidois; JF Piéchaud; E Da Cruz; C Marchal; V Gournay; Jean Kachaner; Pierre Rustin; Dominique Chrétien; Arnold Munnich
[Enzymatic activities of the mitochondrial respiratory chain in child cardiomyopathies. 34 cases prospectively studied by endomyocardial biopsy].
Archives des maladies du coeur et des vaisseaux 1992;85(5):541-6.
1992: Agnès Rötig; J L Bessis; N Romero; V Cormier; Jean-Marie Saudubray; P Narcy; G Lenoir; Pierre Rustin; Arnold Munnich
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.
American journal of human genetics 1992;50(2):364-70.
1992: Arnold Munnich; Pierre Rustin; Agnès Rötig; Dominique Chretien; Jean-Paul Bonnefont; C Nuttin; V Cormier; A Vassault; P Parvy; J Bardet
Clinical aspects of mitochondrial disorders.
Journal of inherited metabolic disease 1992;15(4):448-55.
1991: V Cormier; Pierre Rustin; Jean-Paul Bonnefont; C Rambaud; A Vassault; Daniel Rabier; P Parvy; S Couderc; F Parrot-Roulaud; M Carré
Hepatic failure in disorders of oxidative phosphorylation with neonatal onset.
The Journal of pediatrics 1991;119(6):951-4.
1991: Pierre Rustin; C R Meyer; R T Wedding
Fluorescence Study of Chemical Modification of Phosphoenolpyruvate Carboxylase from Crassula argentea.
Plant physiology 1991;97(3):1011-6.
1991: Pierre Rustin; Dominique Chretien; Thomas Bourgeron; A Wucher; J M Saudubray; A Rotig; A Munnich
Assessment of the mitochondrial respiratory chain.
Lancet 1991;338(8758):60.
1990: Dominique Chretien; Thomas Bourgeron; Agnès Rötig; A Munnich; Pierre Rustin
The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.
Biochemical and biophysical research communications 1990;173(1):26-33.
1990: Agnès Rötig; V Cormier; Stéphane Blanche; Jean-Paul Bonnefont; F Ledeist; N Romero; J Schmitz; Pierre Rustin; A Fischer; Jean-Marie Saudubray
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
The Journal of clinical investigation 1990;86(5):1601-8.
1986: Pierre Rustin; C Lance
Malate Metabolism in Leaf Mitochondria from the Crassulacean Acid Metabolism Plant Kalanchoë blossfeldiana Poelln.
Plant physiology 1986;81(4):1039-43.
1982: J Dupont; Pierre Rustin; C Lance
Interaction between Mitochondrial Cytochromes and Linoleic Acid Hydroperoxide: POSSIBLE CONFUSION WITH LIPOXYGENASE AND ALTERNATIVE PATHWAY.
Plant physiology 1982;69(6):1308-14.
1980: Pierre Rustin; F Moreau; C Lance
Malate Oxidation in Plant Mitochondria via Malic Enzyme and the Cyanide-insensitive Electron Transport Pathway.
Plant physiology 1980;66(3):457-62.