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Dominique Chretien

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Louise Galmiche; Anne-Sophie Lebre; Arnold Munnich; Patrick Nietschke; Marlène Rio; Zahra Assouline; Marine Beinat; Vladimir Benes; Nathalie Boddaert; Francis Brunelle; Dominique Chretien; Valérie Serre; Daniel Sidi; Agnès Rötig
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
Sylvain Hanein; Isabelle Perrault; Olivier Roche; Sylvie Gerber; Noman Khadom; Marlène Rio; Nathalie Boddaert; Marc Jean-Pierre; Nora Brahimi; Valérie Serre; Dominique Chretien; Nathalie Delphin; Lucas Fares-Taie; Sahran Lachheb; Agnès Rotig; Françoise Meire; Arnold Munnich; Jean-Louis Dufier; Josseline Kaplan; Jean-Michel Rozet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
Limor Minai; Jelena Martinovic; Dominique Chretien; Françoise Dumez; Férechté Razavi; Arnold Munnich; Agnès Rötig
Mitochondrial respiratory chain complex assembly and function during human fetal development.

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All Publications

2011: Louise Galmiche; Anne-Sophie Lebre; Arnold Munnich; Patrick Nietschke; Marlène Rio; Zahra Assouline; Marine Beinat; Vladimir Benes; Nathalie Boddaert; Francis Brunelle; Dominique Chretien; Valérie Serre; Daniel Sidi; Agnès Rötig
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
Human mutation 2011;32(11):1225-31.
2009: Sylvain Hanein; Isabelle Perrault; Olivier Roche; Sylvie Gerber; Noman Khadom; Marlène Rio; Nathalie Boddaert; Marc Jean-Pierre; Nora Brahimi; Valérie Serre; Dominique Chretien; Nathalie Delphin; Lucas Fares-Taie; Sahran Lachheb; Agnès Rotig; Françoise Meire; Arnold Munnich; Jean-Louis Dufier; Josseline Kaplan; Jean-Michel Rozet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
American journal of human genetics 2009;84(4):493-8.
2008: Limor Minai; Jelena Martinovic; Dominique Chretien; Françoise Dumez; Férechté Razavi; Arnold Munnich; Agnès Rötig
Mitochondrial respiratory chain complex assembly and function during human fetal development.
Molecular genetics and metabolism 2008;94(1):120-6.
2008: Julie Mollet; Agnès Delahodde; Valérie Serre; Dominique Chretien; Dimitri Schlemmer; Anne Lombes; Nathalie Boddaert; Isabelle Desguerre; Pascale de Lonlay; Hélène Ogier de Baulny; Arnold Munnich; Agnès Rötig
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
American journal of human genetics 2008;82(3):623-30.
2007: Sophie Lebon; Limor Minai; Dominique Chretien; Johanna Corcos; Valérie Serre; Noman Kadhom; Julie Steffann; Jean-Yves Pauchard; Arnold Munnich; Jean-Paul Bonnefont; Agnès Rötig
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.
Molecular genetics and metabolism 2007;92(1-2):104-8.
2007: Julie Mollet; Irina Giurgea; Dimitri Schlemmer; Gustav Dallner; Dominique Chretien; Agnès Delahodde; Delphine Bacq; Pascale de Lonlay; Arnold Munnich; Agnès Rötig
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
The Journal of clinical investigation 2007;117(3):765-72.
2007: Emmanuelle Sarzi; Michael D Brown; Sophie Lebon; Dominique Chretien; Arnold Munnich; Agnès Rotig; Vincent Procaccio
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
American journal of medical genetics. Part A 2007;143(1):33-41.
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.
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: 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.
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: 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: 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: 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.
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: 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.
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: 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.
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.
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: 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.
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: 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: 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.
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: P Edery; B Gérard; Dominique Chretien; Agnès Rötig; R Cerrone; D Rabier; C Rambaud; M Fabre; Jean-Marie Saudubray; Arnold Munnich
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure.
European journal of pediatrics 1994;153(3):190-4.
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.
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: 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.
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: 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: 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.