A. Lombès

Miguel Ángel Martín, E. García-Arumí, A. Lombès, 2019, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Adult cases of mitochondrial DNA depletion due to TK2 defect

K. Claeys, P. Laforêt, B. Eymard, 2012, Neurology.

Reversion of mtDNA depletion in a patient with TK2 deficiency

S. Dimauro, A. Marina, A. Meseguer, 2003, Neurology.

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 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.

Molecular defects in cytochrome oxidase in mitochondrial diseases

S. Dimauro, E. Schon, M. Zeviani, 1988, Journal of bioenergetics and biomembranes.

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function

M. Fardeau, A. Lombès, P. Blondy, 2002, Neuromuscular Disorders.

Mitochondrial encephalomyopathies: biochemical approach.

S. Dimauro, E. Schon, H. Tritschler, 1991, Revue neurologique.

Drug-Induced Alterations of Mitochondrial DNA Homeostasis in Steatotic and Nonsteatotic HepaRG Cells

G. Labbe, B. Fromenty, A. Lombès, 2018, The Journal of Pharmacology and Experimental Therapeutics.

Analysis of giant deletions of human mitochondrial DNA in progressive external ophthalmoplegia

S. Dimauro, E. Schon, M. Zeviani, 1991 .

Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo.

A. Lombès, M. Rojo, Frédéric Legros, 2002, Journal of cell science.

Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.

E. Shoubridge, H. Antonicka, A. Rötig, 2012, American journal of human genetics.

Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

S. Dimauro, E. Schon, D. Vivo, 1991, Neurology.

Mitochondrial MDM2 Regulates Respiratory Complex I Activity Independently of p53.

J. Arnold, C. Cameron, L. Linares, 2018, Molecular cell.

Mitochondrial DNA Content, an Inaccurate Biomarker of Mitochondrial Alteration in Human Immunodeficiency Virus-Related Lipodystrophy

Jacqueline Capeau, J. Capeau, J. Bastard, 2008, Antimicrobial Agents and Chemotherapy.

Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria

A. Lombès, M. Vysokikh, I. Tarassov, 2011, Nucleic acids research.

Organization, dynamics and transmission of mitochondrial DNA: focus on vertebrate nucleoids.

A. Lombès, M. Rojo, F. Malka, 2006, Biochimica et biophysica acta.

Impact on oxidative phosphorylation of immortalization with the telomerase gene

K. Mamchaoui, G. Butler-Browne, V. Mouly, 2007, Neuromuscular Disorders.

Mitochondrial retrograde signaling mediated by UCP2 inhibits cancer cell proliferation and tumorigenesis.

C. Pecqueur, A. Lombès, A. Bulteau, 2014, Cancer research.

Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.

F. Sedel, I. Nelson, S. Allouche, 2014, Mitochondrion.

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations

V. Drouin‐Garraud, O. Dubourg, P. Laforêt, 2013, Neurology.

HK2 Recruitment to Phospho-BAD Prevents Its Degradation, Promoting Warburg Glycolysis by Theileria-Transformed Leukocytes.

E. Kennedy, G. Langsley, A. Lombès, 2017, ACS infectious diseases.

Widespread tissue distribution of mitochondrial DNA deletions in Kearns‐Sayre syndrome

S. Dimauro, C. Moraes, A. Lombès, 1990, Neurology.

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

S. Dimauro, E. Schon, M. Zeviani, 1989, The New England journal of medicine.

Functional interplay between Parkin and Drp1 in mitochondrial fission and clearance.

A. Brice, A. Lombès, O. Corti, 2014, Biochimica et biophysica acta.

Potentiation of mitotane action by rosuvastatin: New insights for adrenocortical carcinoma management.

A. Paci, E. Baudin, M. Lombès, 2019, International journal of oncology.

Mitochondrial stress response triggered by defects in protein synthesis quality control

Robert W. Taylor, S. Seneca, T. Nyman, 2019, Life Science Alliance.

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

Ann Saada, A. Shaag, O. Elpeleg, 2007, Journal of Medical Genetics.

ATAD 3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, S. Heales, 2017 .

Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in merrf syndrome

N. Romero, M. Fardeau, A. Lombès, 1992, Neuromuscular Disorders.

The TOMM machinery is a molecular switch in PINK1 and PARK2/PARKIN-dependent mitochondrial clearance

F. Waharte, J. Salamero, A. Brice, 2013, Autophagy.

Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects.

A. Lombès, M. Schiff, H. Ogier de Baulny, 2011, Seminars in fetal & neonatal medicine.

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

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

A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy.

F. Chapon, S. Allouche, A. Lombès, 2007, Biochemical and biophysical research communications.

Organization and dynamics of human mitochondrial DNA

P. Frachon, A. Lombès, M. Rojo, 2004, Journal of Cell Science.

Hyperketotic states due to inherited defects of ketolysis.

J. Saudubray, A. Lombès, C. Jakobs, 1987, Enzyme.

Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins.

P. Frachon, A. Lombès, M. Rojo, 2002, Molecular biology of the cell.

Abnormalities of satellite cells function in amyotrophic lateral sclerosis

V. Meininger, F. Salachas, A. Bigot, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

DNA repair deficiency sensitizes lung cancer cells to NAD+ biosynthesis blockade

A. Ashworth, J. Adam, J. Soria, 2018, The Journal of clinical investigation.

Use of H2O2 to Cause Oxidative Stress, the Catalase Issue

A. Lombès, F. Bouillaud, C. Ransy, 2020, International journal of molecular sciences.

Identifying mitotane-induced mitochondria-associated membranes dysfunctions: metabolomic and lipidomic approaches

E. Baudin, I. Namer, M. Lombès, 2017, Oncotarget.

Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis.

S. Dimauro, E. Schon, R. Rizzuto, 1990, American journal of human genetics.

Prediction of long‐term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome

P. Laforêt, B. Eymard, T. Stojkovic, 2017, European journal of neurology.

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.

P. Laforêt, B. Eymard, T. Stojkovic, 2015, European heart journal.

Muscle and Liver Lactate Metabolism in Haart-Treated and Naive HIV-Infected Patients: The Mitovir Study

C. Katlama, M. Guiguet, D. Costagliola, 2005, Antiviral therapy.

The mitochondrial complex I inhibitor rotenone triggers a cerebral tauopathy

Jean Féger, Pierre Champy, Charles Duyckaerts, 2005, Journal of neurochemistry.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Robert W. Taylor, S. Dimauro, H. Smeets, 2012, Brain : a journal of neurology.

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

M. Vidailhet, D. Galanaud, A. Durr, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?

P. Laforêt, B. Eymard, C. Jardel, 2007, Brain : a journal of neurology.

Chronic progressive external ophthalmoplegia with ragged-red fibers: Clinical, morphological and genetic investigations in 43 patients

P. Laforêt, B. Eymard, M. Chevallay, 1995, Neuromuscular Disorders.

Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders.

E. Wanker, Z. Izsvák, T. Mielke, 2017, Cell stem cell.

Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.

P. Laforêt, B. Eymard, F. Mochel, 2019, Revue neurologique.

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts.

H. Smeets, V. Procaccio, G. Putet, 1999, The Journal of clinical investigation.

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders.

S. Amselem, P. Laforêt, E. Girodon, 1998, Human molecular genetics.

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

M. Tarnopolsky, P. Yu-Wai-Man, J. Shoffner, 2017, Journal of Inherited Metabolic Disease.

Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency

S. Dimauro, P. Tonin, A. Lombès, 1994, Neurology.

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

N. Romero, P. Laforêt, A. Béhin, 2018, Revue neurologique.

Mitochondrial Damage in HIV Patients treated with Highly Active Antiretroviral Therapy

T. Maisonobe, C. Jardel, A. Lombès, 2002 .

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

Tissue- and Cell-Specific Mitochondrial Defect in Parkin-Deficient Mice

A. Brice, A. Lombès, C. Gautier, 2014, PloS one.

Hepatitis C virus viral recurrence and liver mitochondrial damage after liver transplantation in HIV-HCV co-infected patients.

D. Samuel, H. Bismuth, C. Féray, 2005, Journal of hepatology.

Differential diagnosis of fatal and benign cytochrome c oxidase‐deficient myopathies of infancy

S. Dimauro, E. Schon, S. Servidei, 1991, Neurology.

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.

D. Birchall, N. Quinn, J. Mottershead, 2006, Brain : a journal of neurology.

Mitochondrial encephalomyopathies.

S. Dimauro, A. Lombès, E. Bonilla, 1989, Revue neurologique.

A non-ischemic forearm exercise test for the screening of patients with exercise intolerance

J. Hogrel, P. Laforêt, B. Eymard, 2001, Neurology.

The first pathogenic mitochondrial methionine tRNA point mutation is discovered in splenic lymphoma

M. Tulliez, E. Girodon, A. Lombès, 1998, Human mutation.

In vivo functional investigations of lactic acid in patients with respiratory chain disorders

G. Touati, P. Frachon, A. Lombès, 1997, Archives of disease in childhood.

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

A. Durr, M. Koenig, A. Dürr, 2007, Neurology.

Progression despite replacement of a myopathic form of coenzyme Q10 defect

N. Romero, A. Lombès, J. Benoist, 2004, Neurology.

Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases

P. Laforêt, B. Eymard, T. Stojkovic, 2020, Journal of inherited metabolic disease.

Functional Mitochondrial Heterogeneity in Heteroplasmic Cells Carrying the Mitochondrial DNA Mutation Associated with the MELAS Syndrome (Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes)

J. Mazat, P. Frachon, A. Lombès, 2000, Pediatric Research.

Differences in coenzyme Q10 content in deltoid and quadriceps muscles.

A. Lombès, J. Benoist, D. Biou, 2003, Clinica chimica acta; international journal of clinical chemistry.

Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged‐red fiber disease point mutation in mitochondrial DNA

S. M. Sumi, S. Dimauro, M. Copass, 1993, Annals of neurology.

Clinical and Biochemical Studies on Cytochrome Oxidase Deficiencies a

S. Dimauro, E. Schon, M. Zeviani, 1988, Annals of the New York Academy of Sciences.

A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease.

F. Chapon, P. Reynier, S. Allouche, 2005, Biochemical and biophysical research communications.

Oxidation of hydrogen sulfide by human liver mitochondria.

A. Lombès, C. Vons, V. Lenoir, 2014, Nitric oxide : biology and chemistry.

HCV VIRAL RECURRENCE AND LIVER MITOCHONDRIAL DAMAGE AFTER LIVER TRANSPLANTATION (LT) IN HIV-HCV COINFECTED PATIENTS

D. Samuel, H. Bismuth, C. Jardel, 2004 .

124 HCV viral recurrence and liver mitochondrial damage after liver transplantation (LT) in HIV-HCV coinfected patients

D. Samuel, C. Féray, F. Saliba, 2004 .

Les maladies mitochondriales : mécanismes moléculaires, principaux cadres cliniques et approches diagnostiques

C. Jardel, A. Lombès, C. Jardel, 2005 .

Mitochondrial myopathy and myoclonic epilepsy.

S. Dimauro, H. Teive, A. Lombès, 1990, Arquivos de neuro-psiquiatria.

Engrailed protects mouse midbrain dopaminergic neurons against mitochondrial complex I insults

A. Prochiantz, W. Oertel, A. Hartmann, 2011, Nature Neuroscience.

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.

Use of a cyclic tripeptide to stimulate mitochondrial activity of cells

M. Bomsel, A. Lombès, J. Wolf, 2015 .

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.

P. Laforêt, B. Eymard, T. Stojkovic, 2015, European heart journal.

Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects.

A. Lombès, M. Schiff, H. Ogier de Baulny, 2011, Seminars in fetal & neonatal medicine.

[Pathophysiology of human mitochondrial diseases].

C. Jardel, A. Lombès, K. Auré, 2015, Biologie aujourd'hui.

HIF‐1α induction, proliferation and glycolysis of Theileria‐infected leukocytes

F. Batteux, G. Langsley, A. Lombès, 2015, Cellular microbiology.

Mitotane alters mitochondrial respiratory chain activity by inducing cytochrome c oxidase defect in human adrenocortical cells.

A. Paci, E. Baudin, Jacques Young, 2013, Endocrine-related cancer.

[Misdiagnosis of mitochondrial myopathies: a study of 12 thymectomized patients].

P. Laforêt, B. Eymard, H. Bécane, 2006, Revue neurologique.