P. Rustin

R. Scharfmann, P. Rustin, C. Peyssonnaux, 2012, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.

P. Rustin, A. Gimenez-Roqueplo, J. Favier, 2006, American journal of physiology. Cell physiology.

Alternative Oxidase Expression in the Mouse Enables Bypassing Cytochrome c Oxidase Blockade and Limits Mitochondrial ROS Overproduction

P. Bénit, H. Jacobs, P. Gressens, 2013, PLoS genetics.

From Nf1 to Sdhb knockout: Successes and failures in the quest for animal models of pheochromocytoma

P. Bénit, P. Rustin, A. Morin, 2016, Molecular and Cellular Endocrinology.

Respiratory chain deficiency presenting as congenital nephrotic syndrome

A. Munnich, P. Rustin, A. Rötig, 2005, Pediatric Nephrology.

Week in The Journal F Cellular / Molecular cAMP and a Retinal Clock

D. Hommer, D. Storm, M. Koenig, 2004 .

Aging is associated with increased lipid peroxidation in human hearts, but not with mitochondrial respiratory chain enzyme defects.

Ò. Miró, P. Rustin, E. Casals, 2000, Cardiovascular research.

Loss of Aif function causes cell death in the mouse embryo, but the temporal progression of patterning is normal.

P. Bénit, P. Rustin, J. Penninger, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency.

A. Munnich, P. Rustin, A. Rötig, 2004, Methods in enzymology.

Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in mice

P. Bénit, P. Rustin, T. Wai, 2015, Science.

Fatal lactic acidosis and liver steatosis associated with didanosine and stavudine treatment: a respiratory chain dysfunction?

A. Munnich, P. Rustin, B. Mégarbane, 2000, Journal of hepatology.

Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone‐responsive myopathy

P. Bénit, P. Rustin, T. Langer, 2018, The EMBO journal.

Absence of relationship between the level of electron transport chain activities and aging in human skeletal muscle.

Ò. Miró, P. Rustin, A. Rötig, 1996, Biochemical and biophysical research communications.

A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency

P. Rustin, E. Boitier, G. Ponsot, 1998, Journal of the Neurological Sciences.

The NDUFB6 subunit of the mitochondrial respiratory chain complex I is required for electron transfer activity: a proof of principle study on stable and controlled RNA interference in human cell lines.

P. Bénit, P. Rustin, Malgorzata Rak, 2011, Biochemical and biophysical research communications.

Mitochondria are physiologically maintained at close to 50 ̊C

P. Bénit, H. Jacobs, P. Rustin, 2018 .

Mitochondria Are Physiologically Maintained At Close To 50 C

P. Bénit, H. Jacobs, P. Rustin, 2017 .

BH3 mimetics activate multiple pro-autophagic pathways

P. Bénit, E. Morselli, A. Criollo, 2011, Oncogene.

The investigation of respiratory chain disorders in heart using endomyocardial biopsies

T. Bourgeron, A. Munnich, P. Rustin, 1993, Journal of Inherited Metabolic Disease.

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.

A. Munnich, L. Hertz-Pannier, F. Brunelle, 2000, The Journal of pediatrics.

RXRα overexpression in cardiomyocytes causes dilated cardiomyopathy but fails to rescue myocardial hypoplasia in RXRα-null fetuses

P. Chambon, P. Rustin, M. Mark, 2000 .

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.

P. Gressens, J. Sibarita, P. Rustin, 2009, Human Molecular Genetics.

Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome.

P. Rustin, P. Landrieu, C. Rambaud, 1997, The Journal of pediatrics.

Another observation with VATER association and a complex IV respiratory chain deficiency.

A. Munnich, P. Rustin, A. Rötig, 2006, European journal of medical genetics.

Clinical aspects of mitochondrial disorders

A. Munnich, P. Rustin, A. Rötig, 1992, Journal of Inherited Metabolic Disease.

OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy

M. Zeviani, P. Rustin, C. Mariotti, 1995, Muscle & nerve. Supplement.

HIF1 (cid:1) and pancreatic (cid:2) -cell development

R. Scharfmann, P. Rustin, C. Peyssonnaux, 2012 .

Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure

A. Munnich, P. Rustin, A. Rötig, 1994, European Journal of Pediatrics.

Hepatic failure in disorders of oxidative phosphorylation with neonatal onset.

P. Rustin, D. Rabier, P. Parvy, 1991, The Journal of pediatrics.

Cyanide resistant respiration and the alternative oxidase pathway: A journey from plants to mammals.

P. Bénit, H. Jacobs, P. Rustin, 2022, Biochimica et biophysica acta. Bioenergetics.

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

P. Bénit, A. Munnich, P. Rustin, 2003, Human mutation.

RXRalpha overexpression in cardiomyocytes causes dilated cardiomyopathy but fails to rescue myocardial hypoplasia in RXRalpha-null fetuses.

P. Chambon, P. Rustin, M. Mark, 2000, The Journal of clinical investigation.

Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone

A. Munnich, E. Leshinsky‐Silver, D. Lev, 2001, Journal of Inherited Metabolic Disease.

Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

P. Rustin, A. Rötig, X. Jeunemaître, 2002, The Journal of clinical endocrinology and metabolism.

Stabilization of Hypoxia-inducible Factor-1α Protein in Hypoxia Occurs Independently of Mitochondrial Reactive Oxygen Species Production*

H. Jacobs, P. Rustin, E. Dufour, 2010, The Journal of Biological Chemistry.

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 1999, Biochimica et biophysica acta.

Mitochondrial Complex I Deficiency in Humans

P. Bénit, P. Rustin, A. Rötig, 2004 .

Mitochondria are physiologically maintained at close to 50 °C

P. Bénit, H. Jacobs, P. Rustin, 2017, bioRxiv.

Muscle-Speciﬁc Loss of Apoptosis-Inducing Factor Leads to Mitochondrial Dysfunction, Skeletal Muscle Atrophy, and Dilated Cardiomyopathy

P. Bénit, G. Kroemer, P. Rustin, 2005 .

Biochemical and molecular investigations in respiratory chain deficiencies.

T. Bourgeron, A. Munnich, P. Rustin, 1994, Clinica chimica acta; international journal of clinical chemistry.

Relevance of the TRIAP1/p53 axis in colon cancer cell proliferation and adaptation to glutamine deprivation

P. Bénit, P. Gestraud, B. Colsch, 2022, Frontiers in Oncology.

Succinate Dehydrogenase, Succinate, and Superoxides: A Genetic, Epigenetic, Metabolic, Environmental Explosive Crossroad

P. Bénit, P. Rustin, A. Gimenez-Roqueplo, 2022, Biomedicines.

Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells

P. Bénit, P. Gressens, L. Huc, 2019, PloS one.

Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

P. Bénit, F. Rivier, P. Rustin, 2019, European Journal of Human Genetics.

Drug development for mitochondrial disease: recent progress, current challenges, and future prospects

P. Bénit, P. Rustin, M. Schiff, 2016 .

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics

P. Rustin, J. Vockley, Malgorzata Rak, 2015, Molecular genetics and metabolism reports.

HIV-1 Tat protein directly induces mitochondrial membrane permeabilization and inactivates cytochrome c oxidase

P. Rustin, C. Péchoux, E. Jacotot, 2012, Cell Death and Disease.

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

L. Thomas, S. Richard, B. Teh, 2011, Journal of Medical Genetics.

The alternative oxidase, a tool for compensating cytochrome c oxidase deficiency in human cells.

H. Jacobs, P. Rustin, E. Dufour, 2009, Physiologia plantarum.

Respiratory-chain diseases related to complex III deficiency.

P. Bénit, P. Rustin, S. Lebon, 2009, Biochimica et biophysica acta.

The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes.

P. Bénit, J. Sahel, P. Rustin, 2008, Biochimica et biophysica acta.

Decylubiquinol impedes mitochondrial respiratory chain complex I activity

P. Bénit, P. Rustin, A. Slama, 2008, Molecular and Cellular Biochemistry.

Mitochondrial cytopathies, phenotypic heterogeneity and a high incidence.

G. Brown, P. Rustin, M. King, 2006, Irish medical journal.

Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.

P. Rustin, À. García‐Cazorla, D. Rabier, 2006, The Journal of pediatrics.

Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion

P. Rustin, T. Matthes, P. Beris, 2006, European journal of haematology.

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.

A. Munnich, P. Rustin, A. Rötig, 2005, Molecular genetics and metabolism.

Clinical presentations and laboratory investigations in respiratory chain deficiency

A. Munnich, P. Rustin, A. Rötig, 1996, European Journal of Pediatrics.

Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines.

P. Rustin, C. Antignac, S. Cherqui, 2004, Biochemical and biophysical research communications.

Mitochondrial oxidative phosphorylation: Pitfalls and tips in measuring and interpreting enzyme activities

P. Rustin, D. Chrétien, 2003, Journal of Inherited Metabolic Disease.

Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency

P. Rustin, J. Harpey, G. Ponsot, 1998, Journal of Inherited Metabolic Disease.

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

A. Munnich, P. Rustin, G. Ponsot, 1998, Journal of Inherited Metabolic Disease.

Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes

A. Munnich, P. Rustin, A. Rötig, 1997, Molecular and Cellular Biochemistry.

Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis

A. Munnich, P. Rustin, A. Rötig, 2003 .

Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency

A. Munnich, P. Rustin, A. Rötig, 2000 .

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 1998, American journal of human genetics.

Severe complex I deficiency in a case of neonatal‐onset lactic acidosis and fatal liver failure

A. Munnich, P. Rustin, W. Bonacci, 1997, Acta paediatrica.

An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscle.

T. Bourgeron, A. Munnich, P. Rustin, 1995, Clinica chimica acta; international journal of clinical chemistry.

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

A. Munnich, P. Rustin, A. Rötig, 1995, Neuromuscular Disorders.

Expression of respiratory chain deficiencies in human cultured cells

T. Bourgeron, A. Munnich, P. Rustin, 1993, Neuromuscular Disorders.

Investigation of respiratory chain activity in human heart.

T. Bourgeron, A. Munnich, P. Rustin, 1993, Biochemical medicine and metabolic biology.

Isolation and characterization of mitochondria from human B lymphoblastoid cell lines.

A. Munnich, P. Rustin, A. Rötig, 1992, Biochemical and biophysical research communications.

Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous

T. Bourgeron, A. Munnich, P. Rustin, 1992, Prenatal diagnosis.

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

T. Bourgeron, A. Munnich, P. Rustin, 1990, Biochemical and biophysical research communications.

Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy.

P. Bénit, J. Sahel, P. Rustin, 2012, Brain : a journal of neurology.

Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.

P. Bénit, P. Rustin, Malgorzata Rak, 2012, Molecular genetics and metabolism.

Genetic background influences mitochondrial function: modeling mitochondrial disease for therapeutic development.

P. Bénit, P. Rustin, M. Schiff, 2010, Trends in molecular medicine.

The mtDNA NARP mutation activates the actin-Nrf2 signaling of antioxidant defenses.

P. Rustin, E. Dassa, Vincent Paupe, 2008, Biochemical and biophysical research communications.

Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures.

T. Bourgeron, A. Munnich, P. Rustin, 1993, The Journal of biological chemistry.

Diiron centre mutations in Ciona intestinalis alternative oxidase abolish enzymatic activity and prevent rescue of cytochrome oxidase deficiency in flies

H. Jacobs, P. Rustin, E. Dufour, 2015, Scientific reports.

Mitochondrial biogenesis and development of respiratory chain enzymes in kidney cells: role of glucocorticoids.

P. Rustin, A. Rötig, T. Gilbert, 1994, The American journal of physiology.

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.

T. Bourgeron, A. Munnich, P. Rustin, 1995, Human molecular genetics.

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

P. Bénit, V. Tiranti, H. Prokisch, 2019, Orphanet Journal of Rare Diseases.

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.

A. Munnich, P. Rustin, S. Lyonnet, 1998, American journal of medical genetics.

Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis.

P. Bénit, Changlian Zhu, K. Blomgren, 2015, Molecular cell.

Changing the diet to make more mitochondria and protect the heart.

P. Bénit, P. Rustin, 2012, Circulation research.

Maple syrup urine disease metabolites induce apoptosis in neural cells without cytochrome c release or changes in mitochondrial membrane potential.

A. Edwards, P. Rustin, H. Mehmet, 1998, Biochemical Society transactions.

[Mitochondrial disorders].

A. Munnich, P. Rustin, A. Rötig, 2009, Bulletin de l'Academie nationale de medecine.

Clinical presentation of mitochondrial disorders in childhood

T. Bourgeron, A. Munnich, P. Rustin, 1996, Journal of Inherited Metabolic Disease.

Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency.

A. Munnich, P. Rustin, J. Saudubray, 1995, Journal of hepatology.

Interaction between Mitochondrial Cytochromes and Linoleic Acid Hydroperoxide: POSSIBLE CONFUSION WITH LIPOXYGENASE AND ALTERNATIVE PATHWAY.

P. Rustin, C. Lance, J. Dupont, 1982, Plant physiology.

A new threat identified in the use of SDHIs pesticides targeting the mitochondrial succinate dehydrogenase enzyme

P. Bénit, P. Gressens, L. Huc, 2018, bioRxiv.

Changes in oxidative properties of Kalanchoe blossfeldiana leaf mitochondria during development of Crassulacean acid metabolism

P. Rustin, C. Queiroz-Claret, 1985, Planta.

Malate Metabolism in Leaf Mitochondria from the Crassulacean Acid Metabolism Plant Kalanchoë blossfeldiana Poelln.

P. Rustin, C. Lance, 1986, Plant physiology.

The central role of malate in plant metabolism

P. Rustin, C. Lance, 1984 .

Cells Lacking the Fumarase Tumor Suppressor Are Protected from Apoptosis through a Hypoxia-Inducible Factor-Independent, AMPK-Dependent Mechanism

I. Tomlinson, P. Rustin, P. Pollard, 2012, Molecular and Cellular Biology.

Presentation of six cases of Stüve-Wiedemann syndrome

A. Munnich, P. Rustin, S. Lyonnet, 1998, Pediatric Radiology.

Targeting neonatal ischemic brain injury with a pentapeptide-based irreversible caspase inhibitor

P. Gressens, S. Matecki, P. Rustin, 2011, Cell Death and Disease.

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.

A. Munnich, P. Rustin, M. Vekemans, 2005, American journal of human genetics.

Synthesis and preliminary biological evaluations of ionic and nonionic amphiphilic alpha-phenyl-N-tert-butylnitrone derivatives.

P. Rustin, G. Durand, A. Polidori, 2003, Journal of medicinal chemistry.

Branched chain amino acids induce apoptosis in neural cells without mitochondrial membrane depolarization or cytochrome c release: implications for neurological impairment associated with maple syrup urine disease.

D. Taylor, A. Edwards, P. Rustin, 2000, Molecular biology of the cell.

Mitochondrial transcription factor A regulates mtDNA copy number in mammals.

Kjell Hultenby, P. Rustin, C. Gustafsson, 2004, Human molecular genetics.

Three spectrophotometric assays for the measurement of the five respiratory chain complexes in minuscule biological samples.

P. Bénit, P. Rustin, G. Martin, 2006, Clinica chimica acta; international journal of clinical chemistry.

Clinical spectrum and diagnosis of mitochondrial disorders.

A. Munnich, P. Rustin, Pierre Rustin, 2001, American journal of medical genetics.

Mitochondria are physiologically maintained at close to

Howard T. Jacobs, Young-Tae Chang, P. Bénit, 2018 .

Valproate-induced hepatic failure in a case of cytochromec oxidase deficiency

A. Munnich, P. Rustin, B. Chabrol, 1994, European Journal of Pediatrics.

Redox Properties of Inhibitors of the Alternative Pathway of Plant Mitochondria

P. Rustin, J. Dupont, 1987 .

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

F. Ledeist, P. Rustin, A. Rötig, 1990, The Journal of clinical investigation.

Hair and skin disorders as signs of mitochondrial disease.

C. Bodemer, A. Munnich, P. Rustin, 1999, Pediatrics.

Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

J R Griffiths, R Poulsom, T. Hunt, 2005, Human molecular genetics.

Involvement of lipid peroxy radicals in the cyanide-resistant electron transport pathway

P. Rustin, C. Lance, J. Dupont, 1984 .

Malate Oxidation in Plant Mitochondria via Malic Enzyme and the Cyanide-insensitive Electron Transport Pathway.

P. Rustin, C. Lance, F. Moreau, 1980, Plant physiology.

Cytochrome c Oxidase Subassemblies in Fibroblast Cultures from Patients Carrying Mutations in COX10, SCO1, or SURF1*

P. Rustin, J. Taanman, I. Valnot, 2004, Journal of Biological Chemistry.

Engineering the alternative oxidase gene to better understand and counteract mitochondrial defects: state of the art and perspectives

H. Jacobs, P. Rustin, E. Dufour, 2014, British journal of pharmacology.

Real-time flow cytometry analysis of permeability transition in isolated mitochondria.

M. Prevost, P. Rustin, E. Jacotot, 2004, Experimental cell research.

Refractory anaemia and mitochondrial cytopathy in childhood

A. Munnich, P. Rustin, B. Bader-Meunier, 1994, British journal of haematology.

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

A. Munnich, P. Rustin, A. Rötig, 1993, The Journal of clinical investigation.

Spermidine and resveratrol induce autophagy by distinct pathways converging on the acetylproteome

P. Bénit, Nektarios Tavernarakis, C. López-Otín, 2011, The Journal of cell biology.

Mitochondrial dysfunction following perinatal exposure to nucleoside analogues

P. Rustin, M. Tardieu, S. Blanche, 2006, AIDS.

Persistent mitochondrial dysfunction in HIV-1-exposed but uninfected infants: clinical screening in a large prospective cohort

P. Rustin, C. Lacroix, I. Desguerre, 2003, AIDS.

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

Thomas Bourgeron, Arnold Munnich, T. Bourgeron, 1995, Nature Genetics.

Genetic and biochemical intricacy shapes mitochondrial cytopathies

D. Turnbull, P. Rustin, 2016, Neurobiology of Disease.

Control of Mitochondrial Membrane Permeabilization by Adenine Nucleotide Translocator Interacting with HIV-1 Viral Protein R and Bcl-2

Guido Kroemer, Johan Hoebeke, Bernard P. Roques, 2001, The Journal of experimental medicine.

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

P. Rustin, N. Laing, J. Christodoulou, 2013, American journal of human genetics.

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

P. Rustin, A. Legrand, J. Saudubray, 2003, Human Genetics.

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

A. Munnich, P. Rustin, A. Rötig, 2001, Nature Genetics.

Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial

A. Munnich, P. Rustin, A. Rötig, 2004, Neurology.

Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia

A. Munnich, P. Rustin, A. Rötig, 2002, Heart.

Heart Hypertrophy and Function Are Improved by Idebenone in Friedreich's Ataxia

A. Munnich, P. Rustin, A. Rötig, 2002, Free radical research.

[Mitochondrial disfunction and perinatal exposure to antiretroviral nucleoside analogues].

P. Rustin, M. Tardieu, S. Blanche, 2000, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases.

S. Dimauro, P. Rustin, 2009, Biochimica et biophysica acta.

Mitochondria, from cell death to proliferation

P. Rustin, 2002, Nature Genetics.

Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy.

H. Li, Haiyang Li, P. Rustin, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Targeted Vpr-derived peptides reach mitochondria to induce apoptosis of alphaVbeta3-expressing endothelial cells.

P. Rustin, C. Péchoux, D. Chauvier, 2007, Cell death and differentiation.

Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression

Jens C. Brüning, Hans Wilhelmsson, Caroline Graff, 1999, Nature Genetics.

Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency.

G. Brown, P. Rustin, M. King, 2004, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 2000, Human molecular genetics.

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

J. Ellison, E. Baudin, P. Rustin, 2008, European Journal of Human Genetics.

Mutations in SURF1 are not specifically associated with Leigh syndrome

E. Shoubridge, A. Munnich, P. Rustin, 2001, Journal of medical genetics.

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

A. Munnich, P. Rustin, A. Rötig, 2000, American journal of human genetics.

Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice

G. Barsh, P. Rustin, M. Lewandoski, 1998, Nature Genetics.

Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency

H. Jacobs, Satpal Singh, P. Rustin, 2013, Human molecular genetics.

Mitochondrial Respiratory Chain

P. Rustin, 2008 .

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.

P. Bénit, G. Gyapay, J. Weissenbach, 2002, Human molecular genetics.

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.

P. Bénit, A. Munnich, P. Rustin, 2001, American journal of human genetics.

Mitochondria and cancer.

G. Kroemer, P. Rustin, 2007, Ernst Schering Foundation symposium proceedings.

Cytopathic effects of the cytomegalovirus-encoded apoptosis inhibitory protein vMIA

G. Kroemer, P. Rustin, H. Schägger, 2006, The Journal of cell biology.

For debate: defective mitochondria, free radicals, cell death, aging-reality or myth-ochondria?

P. Rustin, Z. Vajo, A. Rotig, 2000, Mechanisms of Ageing and Development.

Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I

P. Rustin, Malgorzata Rak, 2014, FEBS letters.

Respiratory chain defects: what do we know for sure about their consequences in vivo?

P. Bénit, P. Rustin, D. Chrétien, 2004, Biochimica et biophysica acta.

Distinctive Krebs cycle remodeling in iPSC-derived neural and mesenchymal stem cells.

P. Bénit, P. Rustin, Malgorzata Rak, 2019, Biochemical and biophysical research communications.

Developmental aspects of respiratory chain from fetus to infancy.

P. Bénit, P. Rustin, N. Soussi-Yanicostas, 2011, Seminars in fetal & neonatal medicine.

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.

P. Rustin, N. Romero, Malgorzata Rak, 2016, The New England journal of medicine.

PGC-1α is Dispensable for Exercise-Induced Mitochondrial Biogenesis in Skeletal Muscle

P. Rustin, Z. Arany, G. Rowe, 2012, PloS one.

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.

A. Munnich, P. Rustin, A. Rötig, 2001, Human molecular genetics.

A cancer‐predisposing “hot spot” mutation of the fumarase gene creates a dominant negative protein

P. Rustin, M. Perro, J. Brière, 2008, International journal of cancer.

Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells

H. Jacobs, P. Rustin, E. Dufour, 2009, EMBO molecular medicine.

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

P. Bénit, A. Munnich, P. Rustin, 2004, Journal of Medical Genetics.

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

J. Melki, M. Koenig, P. Rustin, 2001, Nature Genetics.

S6 kinase deletion suppresses muscle growth adaptations to nutrient availability by activating AMP kinase.

P. Bénit, B. Viollet, P. Rustin, 2007, Cell metabolism.

SDH mutations establish a hypermethylator phenotype in paraganglioma.

Laurence Amar, Céline Loriot, P. Bénit, 2013, Cancer cell.

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.

P. Bénit, P. Rustin, V. El Ghouzzi, 2005, Human molecular genetics.

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

A. Munnich, P. Rustin, A. Rötig, 1994, The Journal of clinical investigation.

Glucose Modulates Respiratory Complex I Activity in Response to Acute Mitochondrial Dysfunction

H. Jacobs, P. Rustin, E. Dufour, 2012, The Journal of Biological Chemistry.

Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies.

P. Rustin, Malgorzata Rak, L. Aubry, 2013, Human molecular genetics.

Friedreich's ataxia: the vicious circle hypothesis revisited

P. Rustin, J. Camadro, A. Bayot, 2011, BMC medicine.

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

A. Munnich, F. Foury, M. Koenig, 1997, Nature Genetics.

The environmental carcinogen benzo[a]pyrene induces a Warburg-like metabolic reprogramming dependent on NHE1 and associated with cell survival

P. Bénit, L. Huc, D. Lagadic-Gossmann, 2016, Scientific Reports.

Use of Human Cancer Cell Lines Mitochondria to Explore the Mechanisms of BH3 Peptides and ABT-737-Induced Mitochondrial Membrane Permeabilization

P. Rustin, C. Péchoux, E. Jacotot, 2010, PloS one.

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

P. Bénit, A. Mégarbané, P. Rustin, 2013, Human molecular genetics.

Mitochondrial response to controlled nutrition in health and disease.

P. Bénit, P. Rustin, S. Loublier, 2011, Nutrition reviews.

The Warburg Effect Is Genetically Determined in Inherited Pheochromocytomas

P. Bénit, P. Rustin, X. Jeunemaître, 2009, PloS one.

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.

P. Rustin, A. Rötig, X. Jeunemaître, 2001, American journal of human genetics.

Hereditary Paraganglioma/Pheochromocytoma and Inherited Succinate Dehydrogenase Deficiency

P. Rustin, X. Jeunemaître, A. Gimenez-Roqueplo, 2005, Hormone Research in Paediatrics.

The Divalent Cation Pump and its Role in the Regulation of Malic Enzyme Activity in Purified Mitochondria from Potato Tuber

P. Rustin, C. Lance, 1989 .

In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma

P. Bénit, B. Tavitian, C. Cuénod, 2015, Clinical Cancer Research.

Respiratory chain alternative enzymes as tools to better understand and counteract respiratory chain deficiencies in human cells and animals.

H. Jacobs, P. Rustin, 2009, Physiologia plantarum.

Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes.

A. Munnich, P. Rustin, A. Rötig, 1998, The Biochemical journal.

Mitochondrial cytochrome c oxidase deficiency.

P. Bénit, P. Rustin, Malgorzata Rak, 2016, Clinical science.

Expression of the yeast NADH dehydrogenase Ndi1 in Drosophila confers increased lifespan independently of dietary restriction

H. Jacobs, P. Rustin, T. Yagi, 2010, Proceedings of the National Academy of Sciences.

The Effect of Adenine Nucleotides on Purified Phosphoenolpyruvate Carboxylase from the CAM Plant Crassula argentea.

P. Rustin, C. Meyer, R. Wedding, 1988, Plant physiology.

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

C. Antonescu, M. O'sullivan, J. Fletcher, 2010, Proceedings of the National Academy of Sciences.

Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies.

T. Bourgeron, A. Munnich, P. Rustin, 1994, The Journal of pediatrics.

Mitochondria and diabetes mellitus: untangling a conflictive relationship?

P. Bénit, P. Rustin, S. Loublier, 2009, Journal of Inherited Metabolic Disease.

Heart transplantation in children with mitochondrial cardiomyopathy

A. Munnich, P. Rustin, A. Rötig, 2022 .

Long-term Follow-up of Neonatal Mitochondrial Cytopathies: A Study of 57 Patients

P. Rustin, P. de Lonlay, G. Touati, 2005, Pediatrics.

AIF deficiency compromises oxidative phosphorylation

P. Bénit, G. Kroemer, N. Debili, 2004, The EMBO journal.

SDHA is a tumor suppressor gene causing paraganglioma.

P. Bénit, P. Rustin, X. Jeunemaître, 2010, Human molecular genetics.

Deferiprone targets aconitase: Implication for Friedreich's ataxia treatment

P. Rustin, E. Dassa, Vincent Paupe, 2008, BMC Neurology.

CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10.

P. Bénit, P. Rustin, S. Frank, 2018, Human molecular genetics.

CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10

P. Bénit, P. Rustin, S. Frank, 2018, Human molecular genetics.

Reference charts for respiratory chain activities in human tissues.

T. Bourgeron, A. Munnich, P. Rustin, 1994, Clinica chimica acta; international journal of clinical chemistry.

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.

P. Rustin, A. Morin, R. Letón, 2014, Human molecular genetics.

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

P. Rustin, X. Jeunemaître, P. Corvol, 2003, Cancer research.

Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma

P. Rustin, C. Eng, H. Neumann, 2004, British Journal of Cancer.

Effect of Lon protease knockdown on mitochondrial function in HeLa cells.

M. Priault, P. Rustin, B. Friguet, 2014, Biochimie.

Increased in vivo apoptosis in cells lacking mitochondrial DNA gene expression

P. Rustin, C. Gustafsson, N. Larsson, 2001, Proceedings of the National Academy of Sciences of the United States of America.

Assessment of the mitochondrial respiratory chain

T. Bourgeron, A. Munnich, P. Rustin, 1991, The Lancet.

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

A. Munnich, P. Rustin, A. Rötig, 2000, The Lancet.

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

A. Munnich, P. Rustin, A. Rötig, 1999, The Lancet.

Quinone analogues regulate mitochondrial substrate competitive oxidation.

P. Rustin, J. Brière, D. Schlemmer, 2004, Biochemical and biophysical research communications.

25 MITOCHONDRIAL RESPIRATORY CHAIN DISORDERS (MRCD) PRESENTING AS LIVER DISEASE: DIVERSITY OF CLINICAL, BIOCHEMICAL AND HISTOLOGICAL FEATURES

P. Rustin, M. Fabre, O. Bernard, 1996 .

The molecular archaeology of a mitochondrial death effector: AIF in Drosophila

P. Bénit, G. Kroemer, P. Rustin, 2008, Cell Death and Differentiation.

The control of malate dehydrogenase activity by adenine nucleotides in purified potato tuber (Solanum tuberosum L.) mitochondria.

P. Rustin, M. Valat, 1986, Archives of biochemistry and biophysics.

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α‐ketoglutarate dehydrogenase deficiency

Arnold Munnich, A. Munnich, P. Rustin, 2005, Human mutation.

Mutations in the Dimer Interface of Dihydrolipoamide Dehydrogenase Promote Site-specific Oxidative Damages in Yeast and Human Cells*

P. Rustin, G. Isaya, R. Vaubel, 2011, The Journal of Biological Chemistry.

Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly.

P. Bénit, J. Oury, P. Gressens, 2020, Cell reports.

Succinate detection using in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas

P. Bénit, B. Tavitian, P. Rustin, 2019, European Journal of Nuclear Medicine and Molecular Imaging.

Muscle-Specific Loss of Apoptosis-Inducing Factor Leads to Mitochondrial Dysfunction, Skeletal Muscle Atrophy, and Dilated Cardiomyopathy

P. Bénit, G. Kroemer, P. Rustin, 2005, Molecular and Cellular Biology.

Atrophy , and Dilated Cardiomyopathy Mitochondrial Dysfunction , Skeletal Muscle Apoptosis-Inducing Factor Leads to Muscle-Specific Loss of

P. Bénit, G. Kroemer, P. Rustin, 2005 .

Oxidative interactions between fatty acid peroxy radicals and quinones: possible involvement in cyanide-resistant electron transport in plant mitochondria.

P. Rustin, C. Lance, J. Dupont, 1983, Archives of biochemistry and biophysics.

Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity

C. Sempoux, B. V. Van Beers, P. Rustin, 2009, Journal of hypertension.

Mitochondrial DNA inheritance in patients with deleted mtDNA

T. Bourgeron, A. Munnich, P. Rustin, 2001 .

Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits.

P. Bénit, A. Munnich, P. Rustin, 2002, Molecular genetics and metabolism.

Disconnecting mitochondrial content from respiratory chain capacity in PGC-1-deficient skeletal muscle.

P. Rustin, L. Goodyear, M. Hirshman, 2013, Cell reports.

Oxidative stress induces mitochondrial fragmentation in frataxin-deficient cells.

P. Rustin, J. Camadro, S. Lefevre, 2012, Biochemical and biophysical research communications.

Iron overload and mitochondrial diseases

A. Munnich, P. Rustin, A. Rötig, 1998, The Lancet.

Targeted Deletion of AIF Decreases Mitochondrial Oxidative Phosphorylation and Protects from Obesity and Diabetes

P. Bénit, C. Kahn, I. Ebersberger, 2007, Cell.

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers

P. Rustin, A. Legrand, A. Slama, 2004, European Journal of Human Genetics.

Apoptosis-Inducing Factor Deficiency Induces Early Mitochondrial Degeneration in Brain Followed by Progressive Multifocal Neuropathology

C. Verney, P. Gressens, P. Rustin, 2007, Journal of neuropathology and experimental neurology.

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

A. Munnich, P. Rustin, A. Rötig, 2000, Human Genetics.

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

A. Munnich, P. Rustin, A. Rötig, 2000 .

The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation.

P. Rustin, A. Rötig, G. Choukroun, 2003, Journal of the American Society of Nephrology : JASN.

Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.

A. Munnich, P. Rustin, A. Rötig, 1999, Neuropediatrics.

[Metabolic and genetic investigations in childhood cardiomyopathies].

A. Munnich, P. Rustin, A. Rötig, 1999, Archives des maladies du coeur et des vaisseaux.

Tubulointerstitial nephritis and Fanconi syndrome in primary biliary cirrhosis.

P. Rustin, B. Knebelmann, J. Grünfeld, 2005, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Pitfalls in Monitoring Mitochondrial Temperature Using Charged Thermosensitive Fluorophores

P. Bénit, P. Rustin, G. Lenaers, 2020, Chemosensors.

Correction: DAPIT Over-Expression Modulates Glucose Metabolism and Cell Behaviour in HEK293T Cells

P. Rustin, E. Dufour, H. Kainulainen, 2015, PloS one.

Correction: DAPIT Over-Expression Modulates Glucose Metabolism and Cell Behaviour in HEK293T Cells

P. Rustin, E. Dufour, H. Kainulainen, 2015, PloS one.

DAPIT Over-Expression Modulates Glucose Metabolism and Cell Behaviour in HEK293T Cells

P. Rustin, E. Dufour, H. Kainulainen, 2015, PloS one.

miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy

P. Bénit, D. Israeli, L. Servais, 2020, Scientific Reports.

Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation.

M. Zeviani, H. Jacobs, P. Rustin, 2009, Cell metabolism.

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen

M. Koenig, P. Rustin, J. Haiech, 2009, BMC neurology.

The use of antioxidants in Friedreich’s ataxia treatment

P. Rustin, 2003, Expert opinion on investigational drugs.

Molecular insights into Friedreich's ataxia and antioxidant-based therapies.

A. Munnich, P. Rustin, A. Rötig, 2002, Trends in molecular medicine.

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

A. Munnich, P. Rustin, L. Pasquier, 2005, Archives of Disease in Childhood.

Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits.

P. Bénit, J. Sahel, P. Rustin, 2007, Rejuvenation research.

Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.

M. Koenig, P. Rustin, A. Gansmuller, 2004, Human molecular genetics.

Craniofacial anomalies and malformations in respiratory chain deficiency.

A. Munnich, P. Rustin, A. Rötig, 1996, American journal of medical genetics.

diverse phenotypes due to cytochrome oxidase deficiency

H. Jacobs, P. Rustin, A. Sriram, 2013 .

Fluxes of Nicotinamide Adenine Dinucleotides through Mitochondrial Membranes in Human Cultured Cells*

T. Bourgeron, A. Munnich, P. Rustin, 1996, The Journal of Biological Chemistry.

The Nature of the Terminal Oxidation Step of the Alternative Electron Transport Pathway

P. Rustin, 1987 .

Processing of the 24 kDa subunit mitochondrial import signal is not required for assembly of functional complex I in Yarrowia lipolytica.

P. Bénit, P. Rustin, M. Karas, 2004, European journal of biochemistry.

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

A. Munnich, G. Brown, M. Zeviani, 2001, Journal of Inherited Metabolic Disease.

A kinetic study of the effects of phosphate and organic phosphates on the activity of phosphoenolpyruvate carboxylase from Crassula argentea.

P. Rustin, C. Meyer, R. Wedding, 1989, Archives of biochemistry and biophysics.

Sulfate as an allosteric activator and competitive inhibitor of Crassula argentea phosphoenolpyruvate carboxylase

P. Rustin, C. Meyer, R. Wedding, 1989 .

Identification of substrate and effector binding sites of phosphoenolpyruvate carboxylase from Crassula argentea. A possible role of phosphoenolpyruvate as substrate and activator.

P. Rustin, C. Meyer, R. Wedding, 1988, The Journal of biological chemistry.

The influence of pH on substrate form specificity of phosphoenolpyruvate carboxylase purified from Crassula argentea.

P. Rustin, C. Meyer, R. Wedding, 1990, Archives of biochemistry and biophysics.

Kinetic studies of the form of substrate bound by phosphoenolpyruvate carboxylase.

P. Rustin, C. Meyer, R. Wedding, 1988, Plant physiology.

Fluorescence Study of Chemical Modification of Phosphoenolpyruvate Carboxylase from Crassula argentea.

P. Rustin, C. Meyer, R. Wedding, 1991, Plant physiology.

A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

A. Munnich, P. Rustin, A. Rötig, 1999, Human Genetics.

Fluorescence StudyofChemical Modification of Phosphoenolpyruvate Carboxylase fromCrassula argenteal

P. Rustin, 1991 .

Translocator Protein-Mediated Stabilization of Mitochondrial Architecture during Inflammation Stress in Colonic Cells

V. Papadopoulos, Sunghoon Lee, P. Rustin, 2016, PloS one.

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

P. Bénit, A. Munnich, L. Hertz-Pannier, 2003, Journal of medical genetics.

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

P. Bénit, A. Munnich, L. Hertz-Pannier, 2003, Journal of medical genetics.

Animal models for respiratory chain disease.

P. Rustin, N. Larsson, 2001, Trends in molecular medicine.

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

P. Bénit, A. Munnich, P. Rustin, 2003, Human Genetics.

Mouse Studies to Shape Clinical Trials for Mitochondrial Diseases: High Fat Diet in Harlequin Mice

P. Bénit, P. Rustin, M. Schiff, 2011, PloS one.

The Variability of the Harlequin Mouse Phenotype Resembles that of Human Mitochondrial-Complex I-Deficiency Syndromes

P. Bénit, P. Rustin, E. Dassa, 2008, PloS one.

Sequence and structure of the human OXA1L gene and its upstream elements.

A. Munnich, P. Rustin, A. Rötig, 1997, Biochimica et biophysica acta.

Succinate dehydrogenase deficiency in human

P. Bénit, P. Rustin, J. Favier, 2005, Cellular and Molecular Life Sciences CMLS.

Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency

P. Bénit, M. Zeviani, G. Kroemer, 2017, EBioMedicine.

Revisiting Pitfalls, Problems and Tentative Solutions for Assaying [General Articles] Mitochondrial Respiratory Chain Complex III in Human Samples

A. Munnich, P. Rustin, A. Rötig, 2004 .

Screening human EST database for identification of candidate genes in respiratory chain deficiency.

A. Munnich, P. Rustin, A. Rötig, 2000, Molecular genetics and metabolism.

Inborn errors of complex II--unusual human mitochondrial diseases.

P. Rustin, A. Rötig, Pierre Rustin, 2002, Biochimica et biophysica acta.

Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts

T. Bourgeron, A. Munnich, P. Rustin, 1993, European Journal of Pediatrics.

Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain.

A. Munnich, P. Rustin, B. Parfait, 1996, Biochemical and biophysical research communications.

Therapies in inborn errors of oxidative metabolism

P. Bénit, H. Jacobs, P. Rustin, 2012, Trends in Endocrinology & Metabolism.

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

A Vassault, A. Munnich, P. Rustin, 1992, The Journal of pediatrics.

Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts.

P. Bénit, A. Munnich, P. Rustin, 2003, Biochemical and biophysical research communications.

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia

M. Koenig, P. Rustin, C. Marelli, 2018, Neurology: Genetics.

Idebenone in Friedreich ataxia and Leber's hereditary optic neuropathy: close mechanisms, similar therapy?

P. Rustin, M. Schiff, 2016, Brain : a journal of neurology.

Late-Onset Corticohippocampal Neurodepletion Attributable to Catastrophic Failure of Oxidative Phosphorylation in MILON Mice

P. Rustin, Baoji Xu, N. Larsson, 2001, The Journal of Neuroscience.

Succinate-driven reverse electron transport in the respiratory chain of plant mitochondria. The effects of rotenone and adenylates in relation to malate and oxaloacetate metabolism.

P. Rustin, C. Lance, 1991, The Biochemical journal.

Longevity-relevant regulation of autophagy at the level of the acetylproteome

P. Bénit, Nektarios Tavernarakis, C. López-Otín, 2011, Autophagy.

Impaired Nuclear Nrf2 Translocation Undermines the Oxidative Stress Response in Friedreich Ataxia

P. Rustin, A. Holmgren, E. Dassa, 2009, PloS one.

Continuous measurement of oxaloacetate in purified mitochondria from the leaves of Kalanchoë blossfeldiana

P. Rustin, A. Rötig, M. Alin, 1985 .

Malic enzyme activity and cyanide-insensitive electron transport in plant mitochondria.

P. Rustin, F. Moreau, 1979, Biochemical and biophysical research communications.

Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations.

A. Munnich, P. Rustin, A. Rötig, 1998, Biochemical and biophysical research communications.

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia.

A. Munnich, M. Koenig, P. Rustin, 2001, Human molecular genetics.

Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron‐induced injury in vitro

A. Munnich, P. Rustin, A. Rötig, 1999, BioFactors.

Special Issue: The evolving role of mitochondria in metabolism

H. Jacobs, P. Rustin, J. Vockley, 2012 .

miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy

P. Bénit, D. Israeli, M. Sanson, 2020, Scientific Reports.

Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia

M. Koenig, P. Rustin, A. Gansmuller, 2004, The Journal of Neuroscience.

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy.

A. Munnich, P. Rustin, A. Rötig, 1994, The Journal of pediatrics.

In Vitro Assessment of Mitochondrial Toxicity to Predict Drug-Induced Liver Injury

P. Rustin, B. Fromenty, A. Borgne-Sanchez, 2018 .

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency

A. Munnich, P. Rustin, A. Rötig, 1997, Human Genetics.

Human cultured skin fibroblasts survive profound inherited ubiquinone depletion

A. Munnich, P. Rustin, A. Rötig, 2001, Free radical research.

Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein–Barr virus–transformed lymphocytes in Pearson syndrome

T. Bourgeron, A. Munnich, P. Rustin, 1995, Muscle & nerve. Supplement.

Neuroglobin involvement in respiratory chain function and retinal ganglion cell integrity.

J. Sahel, P. Rustin, M. Marden, 2012, Biochimica et biophysica acta.

Broad AOX expression in a genetically tractable mouse model does not disturb normal physiology

H. Fuchs, H. Jacobs, P. Rustin, 2017, Disease Models & Mechanisms.

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)

A. Munnich, P. Rustin, A. Rötig, 1993, Journal of Inherited Metabolic Disease.

Kidney involvement in mitochondrial disorders.

T. Bourgeron, A. Munnich, P. Rustin, 1995, Advances in nephrology from the Necker Hospital.

Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis.

A. Munnich, P. Rustin, A. Rötig, 1995, The Journal of pediatrics.

Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency.

E. Holme, P. Rustin, N. Darín, 2003, Neuropediatrics.

[Friedreich's ataxia and mitochondria: the puzzle reconstructed].

A. Munnich, P. Rustin, A. Rötig, 1999, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Respiratory Chain Deficiency in Alpers Syndrome

A. Munnich, P. Rustin, A. Rötig, 2001, Neuropediatrics.

Alternative respiratory chain enzymes: Therapeutic potential and possible pitfalls.

H. Jacobs, P. Rustin, E. Dufour, 2019, Biochimica et biophysica acta. Molecular basis of disease.

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

P. Bénit, A. Munnich, P. Rustin, 2001, Prenatal diagnosis.

A role for fatty acid peroxy radicals in the cyanide-insensitive pathway of plant mitochondria?

P. Rustin, C. Lance, J. Dupont, 1983 .

Discrimination between duroquinol oxidase activity and the terminal oxidation step of the cyanide-resistant electron transport pathway of plant mitochondria.

P. Rustin, C. Lance, M. Alin, 1986, Biochemical and biophysical research communications.

Alteration of mitochondrial DNA and RNA level in human fibroblasts with impaired vitamin B12 coenzyme synthesis

V. Petruzzella, P. Rustin, F. Fracasso, 1998, FEBS letters.

A novel mutation and novel features in Nijmegen breakage syndrome

A. Green, E. Shoubridge, A. Munnich, 2001, Journal of medical genetics.

Expression study of genes involved in iron metabolism in human tissues.

A. Munnich, P. Rustin, A. Rötig, 2001, Biochemical and biophysical research communications.

Friedreich's Ataxia, Frataxin, PIP5K1B: Echo of a Distant Fracas

P. Rustin, A. Bayot, 2013, Oxidative medicine and cellular longevity.

The Human Cytochrome c Oxidase Assembly Factors SCO1 and SCO2 Have Regulatory Roles in the Maintenan

E. Shoubridge, P. Rustin, D. Winge, 2007 .

Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone‐responsive myopathy

P. Bénit, P. Rustin, T. Langer, 2018, The EMBO journal.

From Nf1 to Sdhb knockout: Successes and failures in the quest for animal models of pheochromocytoma

P. Bénit, P. Rustin, J. Trapman, 2016, Molecular and Cellular Endocrinology.

SDH mutations establish a hypermethylator phenotype in paraganglioma.

P. Bénit, E. Letouzé, P. Rustin, 2013, Cancer cell.

Heart transplantation in children with mitochondrial cardiomyopathy

A. Munnich, P. Rustin, A. Rötig, 2022 .

Mitochondrial transcription factor A regulates mtDNA copy number in mammals.

P. Rustin, C. Gustafsson, M. Falkenberg, 2004, Human molecular genetics.

Association of TCF7L2 variation with single islet autoantibody expression in children

T. Bourgeron, A. Munnich, P. Rustin, 2002 .

Expression of the alternative oxidase mitigates beta-amyloid production and toxicity in model systems.

H. Jacobs, P. Rustin, D. Crowther, 2016, Free radical biology & medicine.

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

P. Rustin, N. Laing, J. Christodoulou, 2013, American journal of human genetics.

CEREBELLAR ATAXIA

P. Rustin, A. Rotig, J. Saudubray, 2006 .

Efficiency of metabolic screening in childhood cardiomyopathies.

P. Rustin, A. Rötig, I. Gautier, 1998, European heart journal.

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

L. Hertz-Pannier, P. Rustin, A. Rötig, 2003, Journal of medical genetics.

Broad AOX expression in a genetically tractable mouse model does not disturb normal physiology

H. Fuchs, H. Jacobs, P. Rustin, 2017, Disease Models & Mechanisms.

Mitochondrial temperature homeostasis resists external metabolic stresses

T. Ihalainen, H. Jacobs, P. Rustin, 2023, bioRxiv.

Rapid determination of tricarboxylic acid cycle enzyme activities in biological samples

P. Rustin, E. Dassa, A. Gimenez-Roqueplo, 2010, BMC Biochemistry.

Cytopathic effects of the cytomegalovirus-encoded apoptosis inhibitory protein vMIA

G. Kroemer, P. Rustin, H. Schägger, 2006, The Journal of cell biology.

Alternative respiratory chain enzymes: Therapeutic potential and possible pitfalls.

H. Jacobs, P. Rustin, E. Dufour, 2019, Biochimica et biophysica acta. Molecular basis of disease.

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.

P. Gressens, J. Sibarita, P. Rustin, 2009, Human molecular genetics.

Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

F. Rivier, P. Rustin, J. Rivière, 2019, European Journal of Human Genetics.

Mitochondrial DNA inheritance in patients with deleted mtDNA

T. Bourgeron, A. Munnich, P. Rustin, 2001, Journal of medical genetics.