Mitochondrie

Banničre-U676-Y

[Coordonnées & contacts] [Publications]

Physiopathologie et thérapies des maladies mitochondriales

Publications 2005 - 1998 - 1997 - 1978

  1. Astuti D, Morris M, Krona C, Abel F, Gentle D, Martinsson T, Kogner P, Neumann HPH, Voutilainen R, Eng C, Rustin P, Latif F, Maher ER. Investigation of the role of SDH inactivation in sporadic phaeochromocytoma and neuroblastoma. British J Cancer 91, 1835-41.
     
  2. Bénit P., Lebon S., Chol M., Giurgea I., Rötig A., Rustin P. (2004) Mitochondrial NADH Oxidation Deficiency in Humans. Current Genomics 5, 137-146.
     
  3. Bénit P., Slama A., Cartault F., Giurgea I., Chretien D., Lebon S., Marsac C., Munnich A., Rötig A., Rustin P. (2004) Mutant NDUFS3 subunit of mitochondrial Complex I causes Leigh syndrome. J Med Genet 41, 14-17.
     
  4. Bričre JJ, Schlemmer D, Chretien D, Rustin P. (2004) Quinone analogues regulate mitochondrial substrate competitive oxidation. Biochem Biophys Res Commun 316: 1138-42.
     
  5. Bričre JJ, Chretien D, Bénit P, Rustin P. (2004) Respiratory chain defects : What do we know for sure about their consequences in vivo ? Biochim Biophys Acta 1659, 172-177.
     
  6. Chol M., Nevo N., Cherqui S., Antignac C., Rustin P. (2004) Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines. Biochem. Biophys. Res. Commun. 324, 231-235.
     
  7. Clermont O, Burlet P, Benit P, Chanterau D, Saugier-Veber P, Munnich A, Cusin V. Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. Hum Mutat. 2004 Nov;24(5):417-27.
     
  8. Ekstrand E, Falkenberg M, Rantanen A, Park CB, Gaspari M, Hultenby K, Rustin P, Larsson NG. (2004) Mitochondrial transcription factor A regulates mtDNA copy number in mammals. Hum Mol Genet 13, 935-944.
     
  9.  Haut S., Billette de Villemeur T., Brivet M., Guiochon-Mantel A., Boutron A., Rustin P., Legrand A., Slama A. (2004) The deleterious G15498A mutation in mitochondrial DNA encoded cytochrome b may remain clinically silent in homoplasmic carriers. Eur J Hum Genet 12, 220-224
     
  10. Kerscher S, Bénit P., Abdrakhmanova, Rais I, Zwicker K, Rustin P., Brandt U. (2004) Processing of the mitochondrial import signal of the 24 kDa subunit is not required for the assembly of functional complex I. Eur J Biochem. 271:3588-95.
     
  11. Kurian MA, O’Mahoney ES, Rustin P, Brown G, Treacey EP, King MD (2004) Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency. Eur J Paedriatr Neurol 8: 55-59
     
  12. Lecoeur H, Langonné A, Baux L, Rebouillat D, Rustin P, Prévost MC, Brenner C, Edelma, L, Jacotot E. (2004) Real-time Flow Cytometry Analysis of Permeability Transition in Isolated Mitochondria. Exp. Cell Res. 294:106-17
     
  13. Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben Neriah Z, Khadom N, Attié-Bitach T, Munnich A, Rustin P, Colleaux L. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am. J. Hum. Genet. 75, 334-339
     
  14. Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El Ghouzzi V. Recent advances in Dyggve-Melchior-Clausen syndrome. Mol Genet Metab. 2004 Sep-Oct;83(1-2):51-9.
     
  15. Rustin P, Bonnet D, Rötig A, Munnich A, Sidi D. (2004) Idebenone restores mitochondrial respatory chain enzyme activities in the cardiac muscle in Friedreich’s ataxia. Neurology 62:524-5
     
  16. Rustin P., Munnich A., Rötig A. (2004) Mitochondrial respiratory chain dysfunction due to coenzyme Q deficiency. Meth. Enzymol. 382, 81-88.
     
  17. Seznec H, Simon D, Monassier L, Criqui-Filipe P, Gansmuller A, Rustin P, Koenig M, Puccio H. Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Hum Mol Genet 15, 1017-1025
     
  18. Simon D., Seznec H., Gansmuller A., Carelle N., Weber P., Metzger D., Rustin P., Koenig M., Puccio H. (2004) New FRDA mouse models with progressive cerebellar and sensory ataxia reveal an autophagic neurodegeneration in dorsal root ganglia. J Neuroscience 24:1987-95.
     
  19. Vahsen N., Candé C., Bričre J.J., Bénit P., Joza N., Larochette N., Mastroberardino P.G., Pequignot P.O., Casares N., Lazar V., Feraud O., Debili N., Wissing S., Engelhardt S., Madeo F., Piacentini M., Penninger J.M., Schägger H., Rustin P., Kroemer G. (2004) AIF deficiency compromises oxidative phosphorylation. EMBO J 23:4679-89.

 

2003

 

  1. Barret B., Tardieu M., Rustin P., Lacroix C., Chabrol B., Desguerre I ., Dollfus C., Mayaux M.J., Stéphane Blanche (2003) Persistent mitochondrial dysfunction in HIV-1-exposed but uninfected infants: clinical screening in a large prospective cohort. AIDS 17:1769-1785
     
  2. Bénit P., Beugnot R., Chretien D., Giurgea I., de Lonlay-Debeney P., Issartel J.P., Corral-Debrinski C., Kerscher S., Rustin P., Rötig A., Munnich A. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum Mutation (2003) 21:582-6
     
  3. Bénit P., Kerscher S, Lebon S., Chretien D., Kadhom N., de Lonlay P., Goldenberg, Dumez Y., Marc Dommergues M., Rustin P., Munnich A., Rötig A. Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families of respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt-1) in the NDUFS4 gene in Leigh syndrome. Hum Genet 2003 112: 563-566.
     
  4. Bonaventure J, El Ghouzzi V. and cellular bases of syndromic craniosynostoses. Expert Rev Mol Med. 2003 Jan 29;2003:1-17.
     
  5. Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Comier-Daire V, Rustin P, Rötig A, Munnich A. (2003) The mitochondrial DNA G1351A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet 40:188-191;
     
  6. Chretien D., Bénit P., Chol M., Lebon S., Rötig A., Munnich A., Rustin P. (2003) Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts. Biochem Biophys Res Commun 301, 222-224.
     
  7. Chretien D., Rustin P. Mitochondrial oxidative phosphorylation: Pitfalls and tips to measure and interpret enzyme activities. J. Inher. Metab. Dis. 26:189-198.
     
  8. Chretien D; Slama A; Bričre JJ; Munnich A; Rötig A; Rustin P. (2004) Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples. Curr Med Chem 11, 233-239.
     
  9. Darin N., Kadhom N., Bričre JJ, Chretien D., Bébéar C., Munnich A., Rötig A., Rustin P. Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis. BMC Biochemistry (2003) 4:15
     
  10. Darin N., Moslemi AR., Lebon S., Rustin P., Holme E., Oldfors A., Tulinius M. Genotypes and Clinical Phenotypes in Children with Cytochrome c Oxidase Deficiency. Neuropediatrics (2003) 34 311-317.
     
  11. De Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet. 2003 Aug 15;12(16):1959-71
     
  12. De Pontual L, Nepote V, Attie-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Auge J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Hum Mol Genet. 2003 Dec 1;12(23):3173-80.
     
  13. Durand G., Polidori A., Ouari O., Tordo P., Geromel V., Rustin P., Pucci B. (2003) Synthesis and preliminary biological evaluation of ionic and nonionic amphiphilic PBN. J. Med. Chem. 46:5230-5237
     
  14. El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V. Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet. 2003 Feb 1;12(3):357-64.
     
  15. Gimenez-Roqueplot AP., Fvaier J., Rustin P., Rieubland C., Crespin M., Nau V., Khau Van Kien P., Corvol P., Plouin PF. Jeunemaitre, X. 2003. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res 63 : 5615-21.
     
  16. Guery B., Choukroun G., Noel LH., Clavel P., Rötig A., Lebon S., Rustin P., Bellane-Chantelot C., Mougenot B., Grunfeld J.P., Chauveau D. (2003) The Spectrum of Systemic Involvement in Adults Presenting with Renal Lesion and Mitochondrial tRNA(Leu) Gene Mutation. J Am Soc Nephrol. 14:2099-108.
     
  17. Haut S., Brivet M., Touati G., Rustin P., Lebon S., Garcia-Cazorla A., Saudubray J.M., Boutron A., Legrand A., Slama A. (2003)  A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Human Genetics 113 :118-22
     
  18. Lebon S., Chol M., Bénit P., Mugnier C., Chretein D., Giurgea I., Kern I., Girardin E., Hertz-Pannier L., de Lonlay P., Rötig A., Rustin P., Munnich A.  Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. J Med Genet 40:896-9
     
  19. Ray PF, Benit P, Bonnefont JP, Munnich A. Chronology of reported denaturing high performance liquid chromatography (DHPLC)-based prenatal diagnoses.
    Prenat Diagn. 2003 Jan;23(1):81.
     
  20. Rustin P. (2003) The use of antioxidants in Friedreich’s ataxia treatment. Expert Opin. Investig. Drugs 12:569-75.
     
  21. Von Kleist-Retzow JC, de Lonlay P, Cormier-Daire V, Goldenberg A, Mardach B, Amiel J, Viot G, Saada P, Dumez Y, Chretien D, Rötig A, Rustin P, Munnich A. Antenatal manifestations of mitochondrial respiratory chain deficiency. J. Pediatr 143:208-12
     
  22. William SL, Valnot I, Rustin P, Taanman JW. (2003) Cytochrome c oxidase subassemblies in fibroblasts cultures from patients carrying mutations in COX10, SCO, or SURF1. J. Biol. Chem. 279:7462-9.

 

2002

  1. Barrientos A, Barros MH, Valnot I, Rötig A, Rustin P, Tzagoloff A. (2001) Cytochrome oxidase in health and disease. Gene 286:53-63.
     
  2. Barrientos A, Casademont J, Rustin P and Cardellach F. Biochemical aspects of aging of skeletal muscle injuries in Skeletal muscle. Pathology, diagnosis and management of disease. Eds V. Preedy and T. Peters. Grewnwich Medical Media (London), 2002, pp 85-95
     
  3. De Lonlay P., Mugnier C., Sanlaville D., Geromel V., Bénit P., Chrétien D., Kadhom N., Chantrel K., Saker S., Gypie G., Romana S., Munnich A., Rustin P., Rötig A. Four new genetic loci for mitochondrial respiratory chain deficiency identified by cell complementation with Genebridge4 human-rodent hybrids. Hum Mol Genet 2002 11:3273-81
     
  4. Geromel V, Darin N, Chretien D, Benit P, DeLonlay P, Rotig A, Munnich A, Rustin P. Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits. Mol Genet Metab. 2002 Sep;77(1-2):21.
     
  5. Geromel V, Rotig A, Munnich A, Rustin P. Coenzyme Q10 depletion is comparatively less detrimental to human cultured skin fibroblasts than respiratory chain complex deficiencies. Free Radic Res. 2002 Apr;36(4):375-9.
     
  6. Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Kerlan V, Plouin PF, Rotig A, Jeunemaitre X. Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. J Clin Endocrinol Metab. 2002 Oct;87(10):4771-4.
     
  7. Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rötig A, Rustin P. Idebenone reduces cardiac hypertrophy in patients with Friedreich’s ataxia. Heart 87: 346-349.
     
  8. Rotig A, Munnich A, Rustin P. Expressed sequence tag database screening for identification of human genes. Methods Enzymol. 2002;353:566-74.]
     
  9. Rotig A, Sidi D, Munnich A, Rustin P. Molecular insights into Friedreich's ataxia and antioxidant-based therapies.
    Trends Mol Med. 2002 May;8(5):221-4]
     
  10. Rustin P. (2002) Frataxin and mitochondrial iron. In Molecular and Cellular Iron transport, DM Templeton, ed., Marcel Dekker, Inc., New York, 255-271.
     
  11. Rustin P. (2002) Mitochondria, from cell death to proliferation. Nature Genet 30:352-353.
     
  12. Rustin, P. Ataxia de Friedreich, 5 anos despues: mayor comprension de la enfermedad, nuevas esperanza. Boletin FEDAES (2002) 12 : 1-7
     
  13. Rustin, P. Friedreich’s ataxia, 5 years later: better understanding, new hope. EuroAtaxia Newsletter (2002) 22, 4-8
     
  14. Rustin P, Geromel V, Darin N, Munnich A, Rötig A. (2002) Friedreich ataxia as an example of the dual genome control of mitochondrial function. In Mitochondrial Disorders: from pathophysiology to acquired defects. C. Desnuelle and S. DiMauro, eds. 247-253.
     
  15. Rustin P, Munnich A, Rotig A. (2002) Succinate dehydrogenase and human diseases: New insights into a well-known enzyme. Eur J Hum Genet 10:289-91.
     
  16. Rustin P, Rötig A, Munnich A. (2002) Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia.Free Radic Res. 2002 Apr;36(4):467-9.
     
  17. Rustin P, Rotig A  Inborn errors of complex II--unusual human mitochondrial diseases. Biochim Biophys Acta. 2002 1553(:117-22).
     
  18. Rustin P, Rötig A, Munnich A, Sidi D (2002) Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia. Free Rad Res 36:467-469
     
  19. Tardieu M, Rustin P, Mayaux MJ, Blanche S. (2002) Mitochondrial dysfunction in perinatal exposure to antiretroviral nucleoside analogues. In Mitochondrial Disorders: from pathophysiology to acquired defects. C. Desnuelle and S. DiMauro, eds. 173-182.
     
  20. Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, Dagoneau N, Boute O, Viot G, Megarbane A, Sefiani A, Munnich A, Le Merrer M, Cormier-Daire V. Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. J Med Genet. 2002 Oct;39(10):714-7.
     
  21. Yousfi M, Lasmoles F, El Ghouzzi V, Marie PJ. Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation. Hum Mol Genet. 2002 Feb 15;11(4):359-69.

 

 2001

  1. Amiel J, Gigarel N, Benacki A, Benit P, Valnot I, Parfait B, von Kleist-Retzow JC, Raclin V, Hadj-Rabia S, Dumez Y, Rustin P, Bonnefont JP, Munnich A, Rötig A. (2001) Prenatal diagnosis of respiratory chain deficiency by direct mutation screening. Prenat Diag 21:602-604
     
  2. Benit P, Bonnefont JP, Kara Mostefa A, Francannet C, Munnich A, Ray PF. Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis. Prenat Diagn. 2001 Apr;21(4):279-83.
     
  3. Bénit P, D Chretien, N Kadhom, P de Lonlay-Debeney, V Cormier-Daire, A Cabral, S Peudenier, P Rustin, A Munnich, A Rötig Large scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet 2001 68:1344-1352
     
  4. Bonaventure J., El Ghouzzi V. & Renier D. Molecular and cellular bases of craniosynostosis syndromes. Adv. Clin. Neurosciences. 2001 11, 65-80.
     
  5. Bonnet D, Rustin P, Rötig A, Le Bidois J, Munnich A, Vouhé P, Kachaner J, Sidi D. (2001) Heart transplantation in children with mitochondrial cardiomyopathy. Heart 86:570-573
     
  6. Chantrel-Groussard, K., Geromel, V., Puccio, H., Koenig, M., Munnich, A., Rötig, A., Rustin, P. (2001) Disabled early recruitment of antioxidant defenses in Friedreich’s ataxia. Hum. Mol. Genet. 15: 2061-2067.
     
  7. De Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chretien D, Kadhom N, Lombes A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rotig A. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet. 2001 29:57-60
     
  8. De Lonlay P., Rötig A., Rustin P., Munnich A. (2001) Les cytopathies mitochondriales. Encyclopédie Médico-Chirurgicale. 17-162-C-10, 1-10.
     
  9. El Ghouzzi V, Legeai-Mallet L, Benoist-Lasselin C, Lajeunie E, Renier D, Munnich A, Bonaventure J. Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. FEBS Lett. 2001 Mar 9;492(1-2):112-8.155.
     
  10. Ghouzzi V., Munnich A. & Bonaventure J. TWIST: a new piece to the puzzle on flat bones ossification. Médecine/Sciences 2001 17, 1281-1288.
     
  11. Gauthier-Villars M, Landrieu P, Cormier-Daire V, Jacquemin E, Chretien D, Rotig A, Rustin P,  Munnich A, de Lonlay P. (2001) Respiratory chain deficiency in Alpers syndrome. Neuropediatrics 32, 150-152.
     
  12. Geromel V, Cao A, Briane D, Vassy J, Rotig A, Rustin P, Coudert R, Rigaut JP, Munnich A, Taillandier E. (2001) Mitochondria transfection by oligonucleotides containing a signal peptide and vectorized by cationic liposomes. Antisense Nucleic Acid Drug Dev. 11:175-180.
     
  13. Geromel V, Kadhom N, Ceballos-Picot I, Ouari O, Polidori A, Munnich A, Rötig A, Rustin P. (2001) 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. Hum Mol Genet 10, 1221-1228.
     
  14. Geromel V, Rötig A, Munnich A, Rustin P (2001) Humn cultured skin fibroblasts survive profound inherited ubiquinone depletion. Free Rad Res 35:11-21
     
  15. Gimenez-Roqueplon AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Munnich A, Gasc JM, Rötig A and Jeunemaitre X. The R22X Mutation of the SDHD Gene in Hereditary Paraganglioma Suppresses Enzymatic Activity of Complex II in Mitochondrial Respiratory Chain and Induces Activation of Hypoxia Pathway. Am J Hum Genet 69: 1186-97.
     
  16. Jacotot E, Ferri KF, El Hamel C, Brenner C, Druillennec S, Hoebeke J, Rustin P, Metivier D, Lenoir C, Geuskens M, Vieira HL, Loeffler M, Belzacq AS, Briand JP, Zamzami N, Edelman L, Xie ZH, Reed JC, Roques BP, Kroemer G. Control of Mitochondrial Membrane Permeabilization by Adenine Nucleotide Translocator Interacting with HIV-1 Viral Protein R and Bcl-2. J Exp Med. 2001 193:509-520.
     
  17. Larsson, NG., Rustin P. (2001) Animal models for mitochondrial disease. Trends Mol Med 7:578-81
     
  18. Lerman-Sagie T., Lev D., Yanouv M., Leshinski-Silver E., Sagie A., Ben-Gal T., Rustin P., Munnich A.. (2001) Dramatic improvement in mitochondrial cardiomyopathy following idebenone treatment. J Inher Metab Dis 24:28-34
     
  19. Munnich, A., Rötig, A., Cormier, V., Rustin.  P. (2001) Clinical presentation of respiratory chain deficiency. In: The metabolic and molecular bases of inherited disease. 8th ed. Scriver CR, Beaudet AL, Sly WS, Valle D, eds., New-York: McGraw-Hill Medical Publishing Division, 2261-74
     
  20. Munnich A, Rustin P; (2001) Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet 106, 4-17.
     
  21. Puccio H, Simon D, Cossée M, Criqui-Filippe P, Tiziano F, Melki J, Kahn R, Hindelang C, Matyas R, Rustin P, Koenig M. (2001) Mouse models for Friedrich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 27:181-6
     
  22. Quintana-Murci L, Rötig A, Munnich A, Rustin P, Bourgeron T. (2001) Mitochondrial DNA inheritance in patients with deleted mtDNA. J Med Genet 38:E28.
     
  23. Rötig A., Chantrel-Groussard K., Munnich A, Rustin P. (2001) Expression study of genes involved in iron metabolism in human tissues. Biochem. Biophys. Res. Commun. 2001 281 : 804-809
     
  24. Rustin P. (2001) Mitochondrial dysfunction in HIV infection: an overview of pathogenesis. J HIV Therap 6:4-12
     
  25. Sörensen L, Ekstrand M, Silva JP, Lindqvist E, Xu B, Reichardt LF, Rustin P, Olson L, Larsson NG. Late-onset cortico-hippocampal neurodepletion due to catastrophic failure of oxidative phosphorylation in MILON mice. J Neurosci. 21: 8082-8090.
     
  26. Valnot, I., DeLonlay, P., Rustin, P., Munnich, A., Rötig, A. (2001) Genes nucléaires des maladies mitochondriales. Ann Inst. Past 9/10: 125-136.
     
  27. Von Kleist-Retzow JC, Yao J, Taanman JW, Chantrel-Groussard K, Chretien D, Cormier-Daire V, Rötig A, Munnich A, Rustin P, Shoubridge EA. (2000) Mutations in SURF1 are not specifically associated with Leigh syndrome. J Med Genet 38:109-113.
     
  28. Wang J, Silva JP, Gustafsson C, Rustin P, Larsson NG. (2001) increased apoptosis in vivo in cells lacking mitochondrial DNA gene expression. Proc Natl Acad Sci USA 98:4038-4043
     
  29. Wittig I, Augstein P, Brown GK, Fujii T, Rötig A, Rustin P, Munnich A, Seibel P, Thorburn D, Wissinger B, Tamboom K, Metspalu A, Lamantea E, Zeviani M, Wehnert MS. (2000) Sequence variations in the NDUFA1 Gene. J. Inher. Metab. Dis. 24:15-27

 

2000

  1. Benit P, Kara-Mostefa A, Berthelon M, Sengmany K, Munnich A, Bonnefont JP. Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography. Hum Mutat. 2000 Nov;16(5):417-21.
     
  2. Blanche S, Tardieu M, Rustin P (1999) Dysfonctionnement mitochondrial et exposition perinatale aux analogues nucleosidiques antiretroviraux. Arch Pediatr 7: 7-9.
     
  3. Brivet FG, Nion I, Megarbane B, Slama A, Brivet M, Rustin P, Munnich A. Fatal lactic acidosis and liver steatosis associated with didanosine and stavudine treatment: a respiratory chain dysfunction? J Hepatol. 2000 32:364-5
     
  4. De Lonlay-Debeney P, von Kleist-Retzow JC, Hertz-Pannier L, Peudenier S, Cormier-Daire V, Berquin P, Chretien D, Rotig A, Saudubray JM, Baraton J, Brunelle F, Rustin P, Van Der Knaap M, Munnich A. Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency. J Pediatr. 2000 136: :209-214.
     
  5. El Ghouzzi V, Legeai-Mallet L, Aresta S, Benoist C, Munnich A, de Gunzburg J, Bonaventure J. Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location. Hum Mol Genet. 2000 Mar 22;9(5):813-9.
     
  6. Faivre L, Cormier-Daire V, Chretien D, Christoph Von Kleist-Retzow J, Amiel J, Dommergues M, Saudubray JM, Dumez Y, Rotig A, Rustin P, Munnich A. (2000) Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency. Prenat Diagn.;20: 732-737.
     
  7. Jouvet P., Rustin P., Felderhoff U., Pocock, J., Taylor D.L., Joashi U., Mazarakis N.D., Sarraf C., Greenwood K., Edwards A.D., Mehmet H. (2000) Branched chain amino acids induce apoptosis in neural cells: A model for neurological impairment in maple syrup urine disease. Mol. Biol. Cell 11:1919-1932.
     
  8. Lajeunie E, Bonaventure J, El Ghouzzi V, Catala M, Renier D. Monozygotic twins with Crouzon syndrome: concordance for craniosynostosis and discordance for thumb duplication. Am J Med Genet. 2000 Mar 13;91(2):159-60.
     
  9. Li H, Wang J, Wilhelmsson H, Hansson A, Thoren P, Duffy J, Rustin P, Larsson NG. (2000) Genetic modification of survival in tissue-specific knockout mice with mitochondrialcardiomyopathy. Proc Natl Acad Sci U S A. 200097:3467-72.
     
  10. Megarbane A, Melki I, Souraty N, Gerbaka J, El Ghouzzi V, Bonaventure J, Mornand A, Loiselet J. Overlap between Baller-Gerold and Rothmund-Thomson syndrome. Clin Dysmorphol. 2000 Oct;9(4):303-5.
     
  11. Miro O, Casademont J, Urbano-Marquez A, Rustin P, Cardellach F. 2000. Aging is associated with an increased membrane lipid peroxidation in human hearts, but not with a decay of mitochondrial respiratory chain enzyme activities. J. Cardiovasc. Res. 47:624-31.
     
  12. Parfait B, Chretien D, Rotig A, Marsac C, Munnich A, Rustin P. (2000) Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum Genet. 106: 236-43.
     
  13. Renier D, El-Ghouzzi V, Bonaventure J, Le Merrer M, Lajeunie E. Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome. J Neurosurg. 2000 Apr;92(4):631-6.
     
  14. Rötig, A., Appelkvist, EL, Geromel, V., Chretien, D., Parfait B., Kadhom, N., Edery, P., Lebideau, M., Dallner, G., Ernster, L., Munnich, A., Rustin, P. (2000) Quinone-responsive mitochondrial encephalomyopathy due to a coenzyme Q10 biosynthesis defect. Lancet 356:391-5.
     
  15. Rotig A, Valnot I, Mugnier C, Rustin P, Munnich A. (2000) Screening Human EST Database for Identification of Candidate Genes in Respiratory Chain Deficiency. Mol Genet Metab. 69:223-232.
     
  16. Rustin P. (2000) Toxicité mitochondrial des analogues nucléosidiques. Viral 23: 5-9.
     
  17. Rustin P., Von Kleist-Retzow JC, Chantrel-Groussard K., Sidi d., Munnich A., Rötig A. (2000) Ataxie de Friedreich. Premier pas vers une thérapie. Impact Médecin Hebdo 485.
     
  18. Rustin P., von Kleist-Retzow J, Chantrel-Groussard K, Sidi D, Munnich A, Rötig A. (2000) Ataxie de Friedreich: une maladie mitochondriale due ŕ une perturbation de l'homéostasie du fer dans les mitochondries. Médecine-Thérapeutique Pédiatrie 3: 135-138
     
  19. Rustin P, von Kleist-Retzow J, Vajo Z, Rotig A, Munnich A. (2000) For debate: defective mitochondria, free radicals, cell death, aging-reality or myth-ochondria? Mech Ageing Dev. 114:201-206.
     
  20. Subbarayan V, Mark M, Messadeq N, Rustin P, Chambon P, Kastner P. RXRalpha overexpression in cardiomyocytes causes dilated cardiomyopathy but fails to rescue myocardial hypoplasia in RXRalpha-null fetuses. J Clin Invest. 2000 105:387-394.
     
  21. Tardieu M., Rustin P., Blanche S. (2000) Dysfonctionnement mitochondrial et alalogues nucléosidiques. Les enseignements des cas rapportés dans la cohorte périnatale française. Transcriptase 81, 32-34.
     
  22. Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rotig (2000) A. A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. Hum Mol Genet. 9:1245-1249.
     
  23. Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A,  Bonnefont JP, Rustin P, Rötig A (2000) Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase (COX) deficiency with neonatal-onset hepatic failure and encephalopathy. Am. J. Hum. Genet. 67:1104-1109.
     
  24. Von Kleist-Retzow JC, Chantrel-Groussard K, Rötig A., Munnich A, Rustin P. Die Friedreich-Ataxie. 3 Jahre nach identifikation des gens ein hoffnungsschimmer für die Therapie. Dtsch. Med. Wschr 125:293-295
     
  25. Von Kleist-Retzow JC, Cormier-Daire V., De Lonlay P., Faivre L., Viot G., Amiel J., Rustin P., Rötig A., Munnich A. (2000) Cytopathies mitochondriales: manfestations anténatales et diagnostic prénatal. Journée Parisiennes de Pédiatrie. 131-136.

 

1999

  1. Benit P, Kara-Mostefa A, Hadj-Rabia S, Munnich A, Bonnefont JP. Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations. Hum Mutat. 1999;14(5):428-32.
     
  2. Benit P, Rey F, Blandin-Savoja F, Munnich A, Abadie V, Rey J. The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency. Mol Genet Metab. 1999 Sep;68(1):43-7.
     
  3. Blanche S, Tardieu M, Rustin P (1999) Exposition perinatele aux analogues nucleosidiques antiretroviraux. Medecine/Sciences 10: 1191-3
     
  4. Blanche S, Tardieu M, Rustin P, Slama A, Barret B, Firtion G, Ciraru-Vigneron N, Lacroix C, Rouzioux C, Mandelbrot L, Desguerre I, Rotig A, Mayaux MJ, Delfraissy JF (1999) Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues. Lancet 354: 1084-89
     
  5. Bodemer C, Rotig A, Rustin P, Cormier V, Niaudet P, Saudubray JM, Rabier D, Munnich A, de Prost Y (1999) Hair and Skin Disorders as Signs of Mitochondrial Disease. Pediatrics 103:428-433.
     
  6. Bonnet D, P Rustin, A Rotig, P de Lonlay, G Viot, A Munnich et D Sidi. Explorations métaboliques et génétiques des cardiomyopathies de l'enfant. Arch Mal Coeur Vaiss. 92:1509-14.
     
  7. De Lonlay-Debeney P, Edery P, Cormier-Daire V, Parfait B, Chretien D, Rotig A, Romero N, Saudubray JM, Munnich A, Rustin P (1999) Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood. Neuropediatrics 30:42-4
     
  8. El Ghouzzi V, Lajeunie E, Le Merrer M, Cormier-Daire V, Renier D, Munnich A, Bonaventure J. Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
    Eur J Hum Genet. 1999 Jan;7(1):27-33
     
  9. Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, Gonzales M, Delezoide AL, Bonaventure J, Le Merrer M, Renier D. Clinical variability in patients with Apert's syndrome. J Neurosurg. 1999 Mar;90(3):443-7.
     
  10. Lajeunie E, El Ghouzzi V, Le Merrer M, Munnich A, Bonaventure J, Renier D. Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. J Med Genet. 1999 Jan;36(1):9-13.
     
  11. Megarbane B., Fromont C., Nion I., Chary I., Axler O., Slama A., Brivet M., Rustin P., Munnich A., Brivet F. (1999) Un patient infecte par le VIH tres, tres essouffle, Rev  Med Interne, 20: 256s-259s.
     
  12. Parfait, B., de Lonlay, P., von Kleist-Retzow, JC, Cormier-Daire, V., Chrétien, D., Rötig, A., Rabier, D., Saudubray, JM., Rustin, P., Munnich, A. (1998) The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. Eur. J. Pediatr. 158: 55-8
     
  13. Rotig A, Munnich A, Rustin P (1999) Friedreich's ataxia and mitochondria: the puzzle reconstructed. Arch Pediatr 6 Suppl 2:498s-499s
     
  14. Rustin, P., Munnich, A., Rötig, A. (1998) Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron-induced injury in vitro. Biofactor 1999;9(2-4):247-51
     
  15. Rustin, P., von Kleist-Retzow, J.-C., Chantrel-Groussard, K., Sidi, D., Munnich, A., Rötig, A. (1998) Effect of idebenone in Friedreich's ataxia: a preliminary study. The Lancet 354: 477-479
     
  16. Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, Sidi D, Munnich A, Rötig A. Ataxie de Friedreich : 3 ans aprčs l'identification du gčne, un premier espoir d'enrayer le cours de la maladie. Médecine/Science 15 : 1314-1316
     
  17. Valnot, I., Kassis, J., Chretien, D., de Lonlay, P., Parfait, B., Munnich, A., Kachaner, J., Rustin, P., Rötig, A. (1999). A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. Hum. Genet. 104:460-466
     
  18. Von Kleist-Retzow, J.C., Vial, E., Chantrel-Groussard, K., Rötig, A., Munnich, A., Rustin, P., Taanman, J-W. (1999) Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency. Biochim. Biophys. Acta 1455:35-44
     
  19. Wang JM, Wilhelmsson H., Graff C., Li H., Oldfors A., Rustin P., Bruning J., Kahn C.R., Clayton DA., Barsh GS., Thoren P., Larsson NG (1999) Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Nature Genet 21: 99-102.

 

1998

  1. Boitier, E., Degoul, F., Desguerre, I., Charpentier, C., François, D., Ponsot, G., Diry, M., Rustin, P., Marsac, C. (1998) A case of mitochondrial encephalomyopathy associated with a selective muscular coenzyme Q10 deficiency. J Neurol Sci 156, 41-46.
     
  2. Bonnet, D., de Lonlay, P., Gautier, I., Rustin, P., Rötig, A., Kachaner, J., Acar, P., Le Bidois, J., Munnich, A., Sidi, D. (1998) Efficiency of metabolic screening in childhood cardiomyopathies. Eur Heart J 19:790-793.
     
  3. Cantatore, P., Petruzella, V., Nicoletti, C., Papadia, F., Fracasso, F., Rustin, P., Gadaleta, M.N. (1998) Alteration of mitochondrial DNA and RNA level in human fibroblasts with impaired vitamine B12 coenzyme synthesis. FEBS Letters 432:173-178
     
  4. Chretien D., Gallego J., Barrientos A., Casademont J., Cardellach F., Munnich A., Rötig A., Rustin P. (1997) The biochemical parameters for the diagnosis of respiratory chain deficiency in man and their lack of age-related changes. Biochem. J. 329: 249-254.
     
  5. Collinet M, Berthelon M, Benit P, Laborde K, Desbuquois B, Munnich A, Robert JJ. Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mapping. Eur J Pediatr. 1998 Jun;157(6):456-60.
     
  6. Cormier-Daire V., Superti-Furga A., Munnich A., Lyonnet S., Rustin P., Delezoide A.L., De Lonlay P., Giedion A., Maroteaux P., Le Merrer M. (1998) Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. Am. J. Med. Genet. 78 :146-149.
     
  7. El Ghouzzi V., Le Merrer M., Perrin-Schmitt F., Lajeunie E., Benit P., Renier D., Munnich A. & Bonaventure J. Des mutations du gčne H-TWIST sont responsables du syndrome de Saethre-Chotzen. Arch. Ped. 1998 5, 582-3.
     
  8. Harpey, J.P., Heron, D., Prudent, M., Charpentier, C., Rustin, P., Ponsot, G., Cormier-Daire, V. (1998) Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency. J. Inher.Metab. Dis. 21, 748-752.
     
  9. Jouvet P, Rustin P, Felderhoff U, Pocock J, Joashi U, Mazarakis ND, Sarraf C, Edwards AD, Mehmet H (1998) Maple syrup urine disease metabolites induce apoptosis in neural cells without cytochrome c release or changes in mitochondrial membrane potential. Biochem Soc Trans 26:S341
     
  10. Von Kleist-Retzow, J.C., Cormier-Daire, V., de Lonlay, P., Parfait, B., Chretien, D., Rustin, P., Feingold, J., Rötig, A., Munnich, A. (1998) A high rate of parental consanguinity (20-30%) in cytochrome oxidase deficiency. Am. J. Human. Genet. 63, 428-435.
     
  11. Larsson, N.G., Wang, J., Wilhemsson, H., Oldfors, H., Rustin , P., Lewandoski, M., Martin, G., Barsh, G.S., Clayton, D.A. (1998) Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis Nature Genet 18, 231-236.
     
  12. Miro, O., Cardellach, F., Barrientos, A., Casademont, J., Rötig, A., Rustin, P. (1998) Cytochrome c oxidase assay in minute amount of human skeletal muscle using simple wavelength spectrophotometers. J. Neurosci. Meth. 80, 107-111.
     
  13. Parfait, B., Rustin, P., Munnich, A., Rötig, A; (1998) Co-amplification of nuclear-pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations. Biochem. Biophys. Res. Commun. 247, 57-59.
     
  14. Rabier, D., Diry, C., Rötig, A., Rustin, P., Heron, D., Bardet, J., Parvy, P., Ponsot, G., Marsac, C., Saudubray, J.M., Munnich, A., Kamoun, P. (1998) Persistent hypocitrullinaemia as a marker for mtDNA NARP T8993G mutation ? J. Inher. Metab. Dis. 21, 216-219.
     
  15. Rötig, A., Munnich, A., Rustin, P. (1998) Ataxie de Friedreich et mitochondrie : le puzzle reconstitué. Medecine/Sciences 14, 104-105.
     
  16. Rustin, P. (1998) Les superoxydes ou les dangers de la vie aérobie, relus vingt ans aprčs. La Recherche, Sept 98, pp.83
     
  17. Rustin, P., von Kleist-Retzow, J.-C., Rötig, A., Munnich, A. (1998) Iron overload and mitochondrial diseases. The Lancet 351, 1286-1287.
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