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A. Lombès · SciRah

Researcher profile · Semantic Scholar

A. Lombès

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A. Lombès — researcher profile on SciRah

h-index: 57
Works: 170
Citations: 11K

Most-cited papers

Genetic diagnosis of Mendelian disorders via RNA sequencing
L. Kremer, Daniel M. Bader, C. Mertes, R. Kopajtich +28 more
2017Nature Communications540 citations Open access
Semantic Scholar
Use of H2O2 to Cause Oxidative Stress, the Catalase Issue
C. Ransy, C. Vaz, A. Lombès, F. Bouillaud
2020International Journal of Molecular Sciences327 citations Open access
Semantic Scholar
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
J. Mollet, A. Delahodde, V. Serre, D. Chrétien +8 more
2008American Journal of Human Genetics292 citations Open access
Semantic Scholar
Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis.
F. Medja, S. Allouche, P. Frachon, C. Jardel +6 more
2009Mitochondrion (Amsterdam. Print)201 citations
Semantic Scholar
Metalloprotease‐mediated OPA1 processing is modulated by the mitochondrial membrane potential
Olwenn Guillery, F. Malka, T. Landes, E. Guillou +5 more
2008Biology of the Cell193 citations Open access
Semantic Scholar
Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders.
C. Lorenz, P. Lesimple, R. Bukowiecki, A. Zink +25 more
2017Cell Stem Cell160 citations Open access
Semantic Scholar
Engrailed protects mouse midbrain dopaminergic neurons against mitochondrial complex I insults
Daniel Alvarez-Fischer, J. Fuchs, F. Castagner, O. Stettler +9 more
2011Nature Neuroscience154 citations Open access
Semantic Scholar
Functional interplay between Parkin and Drp1 in mitochondrial fission and clearance.
Lori M. Buhlman, M. Damiano, Giulia Bertolin, R. Ferrando-Miguel +3 more
2014Biochimica et Biophysica Acta151 citations Open access
Semantic Scholar
Liver damage underlying unexplained transaminase elevation in human immunodeficiency virus‐1 mono‐infected patients on antiretroviral therapy
P. Ingiliz, M. Valantin, C. Duvivier, F. Medja +7 more
2009Hepatology148 citations Open access
Semantic Scholar
The TOMM machinery is a molecular switch in PINK1 and PARK2/PARKIN-dependent mitochondrial clearance
Giulia Bertolin, R. Ferrando-Miguel, Maxime Jacoupy, Sabine Traver +11 more
2013Autophagy146 citations Open access
Semantic Scholar
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
Radha Desai, A. E. Frazier, Romina Durigon, H. Patel +32 more
2017Brain : a journal of neurology129 citations Open access
Semantic Scholar
PGC-1alpha/beta induced expression partially compensates for respiratory chain defects in cells from patients with mitochondrial disorders.
S. Srivastava, Francisca Diaz, L. Iommarini, K. Auré +2 more
2009Human Molecular Genetics112 citations Open access
Semantic Scholar
Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.
Woranontee Weraarpachai, F. Sasarman, Tamiko Nishimura, H. Antonicka +4 more
2012American Journal of Human Genetics111 citations Open access
Semantic Scholar
Natural lipophilic inhibitors of mitochondrial complex I are candidate toxins for sporadic neurodegenerative tau pathologies.
M. Höllerhage, A. Matusch, P. Champy, A. Lombès +3 more
2009Experimental Neurology103 citations
Semantic Scholar
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
P. Laforêt, C. Acquaviva-Bourdain, O. Rigal, M. Brivet +12 more
2009Neuromuscular Disorders97 citations
Semantic Scholar
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.
Sabrina Sacconi, E. Trevisson, L. Salviati, S. Aymé +9 more
2010Neuromuscular Disorders88 citations
Semantic Scholar
Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria
Olga Karicheva, O. Kolesnikova, T. Schirtz, M. Vysokikh +7 more
2011Nucleic Acids Research86 citations Open access
Semantic Scholar
Abnormalities of satellite cells function in amyotrophic lateral sclerosis
P. Pradat, A. Barani, J. Wanschitz, O. Dubourg +8 more
2011Amyotrophic Lateral Sclerosis85 citations
Semantic Scholar
Mitotane alters mitochondrial respiratory chain activity by inducing cytochrome c oxidase defect in human adrenocortical cells.
S. Hescot, A. Slama, A. Lombès, A. Paci +8 more
2013Endocrine-Related Cancer84 citations Open access
Semantic Scholar
Mitochondrial MDM2 Regulates Respiratory Complex I Activity Independently of p53
G. Arena, Madi Y. Cissé, Samuel Pyrdziak, L. Chatre +23 more
2018Molecules and Cells83 citations Open access
Semantic Scholar
Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.
K. Wahbi, W. Bougouin, A. Béhin, T. Stojkovic +8 more
2015European Heart Journal83 citations
Semantic Scholar
Nitroso-Redox Balance and Mitochondrial Homeostasis Are Regulated by STOX1, a Pre-Eclampsia-Associated Gene
L. Doridot, L. Chatre, Aurélien Ducat, J. Vilotte +6 more
2014Antioxidants and Redox Signaling83 citations Open access
Semantic Scholar
Modulation of mitochondrial morphology by bioenergetics defects in primary human fibroblasts.
O. Guillery, F. Malka, P. Frachon, D. Milea +2 more
2008Neuromuscular Disorders82 citations
Semantic Scholar
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
B. Repp, E. Mastantuono, C. Alston, M. Schiff +53 more
2018Orphanet Journal of Rare Diseases80 citations Open access
Semantic Scholar
Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome
C. Comte, Yann Tonin, Anne-Marie Heckel-Mager, Abdeldjalil Boucheham +6 more
2012Nucleic Acids Research71 citations Open access
Semantic Scholar
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
P. Gaignard, Minal Menezes, M. Schiff, A. Bayot +19 more
2013American Journal of Human Genetics68 citations Open access
Semantic Scholar
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation
E. Malfatti, P. Laforêt, C. Jardel, T. Stojkovic +9 more
2013Neurology65 citations
Semantic Scholar
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.
A. Amiot, M. Tchikviladzé, F. Joly, A. Slama +4 more
2009Gastroenterology65 citations
Semantic Scholar
Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations.
Virginie Agier, P. Oliviéro, J. Lainé, C. l’Hermitte-Stead +6 more
2012Biochimica et Biophysica Acta63 citations Open access
Semantic Scholar
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Virgínia Guarani, C. Jardel, D. Chrétien, A. Lombès +18 more
2016eLife61 citations Open access
Semantic Scholar
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations
K. Auré, O. Dubourg, C. Jardel, Lucie Clarysse +13 more
2013Neurology59 citations
Semantic Scholar
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Vivienne C. M. Neeve, David C. Samuels, L. Bindoff, B. V. D. van den Bosch +23 more
2012Brain : a journal of neurology59 citations Open access
Semantic Scholar
Long-term follow-up of liver transplanted HIV/hepatitis B virus coinfected patients: perfect control of hepatitis B virus replication and absence of mitochondrial toxicity
M. Tateo, A. Roque-Afonso, T. Antonini, F. Medja +8 more
2009AIDS (London)51 citations Open access
Semantic Scholar
Tissue- and Cell-Specific Mitochondrial Defect in Parkin-Deficient Mice
M. Damiano, C. Gautier, A. Bulteau, R. Ferrando-Miguel +9 more
2014PLoS ONE49 citations Open access
Semantic Scholar
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.
Hélène Pagniez-Mammeri, A. Lombès, M. Brivet, Hélène Ogier-de Baulny +3 more
2009Molecular Genetics and Metabolism48 citations
Semantic Scholar
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
J. Poulton, M. Hirano, A. Spinazzola, M. Hernandez +8 more
2009Biochimica et Biophysica Acta47 citations Open access
Semantic Scholar
A 6-Month Interruption of Antiretroviral Therapy Improves Adipose Tissue Function in HIV-Infected Patients: The ANRS EP29 Lipostop Study
Min Ji Kim, P. Leclercq, E. Lanoy, P. Cervera +9 more
2007Antiviral Therapy47 citations Open access
Semantic Scholar
Mitochondrial stress response triggered by defects in protein synthesis quality control
Uwe Richter, Kah Ying Ng, F. Suomi, Paula Marttinen +14 more
2019Life Science Alliance42 citations Open access
Semantic Scholar
Oxidation of hydrogen sulfide by human liver mitochondria.
N. Helmy, C. Prip-Buus, C. Vons, V. Lenoir +4 more
2014Nitric oxide42 citations
Semantic Scholar
Mitochondrial DNA Content, an Inaccurate Biomarker of Mitochondrial Alteration in Human Immunodeficiency Virus-Related Lipodystrophy
Min Ji Kim, C. Jardel, C. Barthélémy, Véronique Jan +5 more
2008Antimicrobial Agents and Chemotherapy42 citations Open access
Semantic Scholar
HIF‐1α induction, proliferation and glycolysis of Theileria‐infected leukocytes
Mehdi Metheni, A. Lombès, F. Bouillaud, F. Batteux +1 more
2015Cellular Microbiology38 citations Open access
Semantic Scholar
Identifying mitotane-induced mitochondria-associated membranes dysfunctions: metabolomic and lipidomic approaches
S. Hescot, L. Amazit, M. Lhomme, Simon Travers +9 more
2017OncoTarget36 citations Open access
Semantic Scholar
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity
M. Tchikviladzé, M. Gilleron, T. Maisonobe, D. Galanaud +17 more
2014Journal of Neurology Neurosurgery & Psychiatry35 citations
Semantic Scholar
S100A8-mediated metabolic adaptation controls HIV-1 persistence in macrophages in vivo
F. Real, Aiwei Zhu, Bo-Xin Huang, Ania Belmellat +11 more
2022Nature Communications34 citations Open access
Semantic Scholar
Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects.
M. Schiff, Hélène Ogier de Baulny, A. Lombès
2011Seminars in Fetal & Neonatal Medicine34 citations
Semantic Scholar
Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.
L. Kremer, C. l’Hermitte-Stead, P. Lesimple, M. Gilleron +11 more
2016Journal of Hepatology31 citations Open access
Semantic Scholar
Drug-Induced Alterations of Mitochondrial DNA Homeostasis in Steatotic and Nonsteatotic HepaRG Cells
D. Le Guillou, Simon Bucher, Karima Begriche, Delphine Hoët +3 more
2018Journal of Pharmacology and Experimental Therapeutics29 citations Open access
Semantic Scholar
Probenecid potentiates MPTP/MPP+ toxicity by interference with cellular energy metabolism
Daniel Alvarez-Fischer, C. Noelker, A. Grünewald, F. Vulinovic +8 more
2013Journal of Neurochemistry29 citations Open access
Semantic Scholar
Impact on oxidative phosphorylation of immortalization with the telomerase gene.
K. Auré, K. Mamchaoui, P. Frachon, G. Butler-Browne +2 more
2007Neuromuscular Disorders27 citations
Semantic Scholar
Increased dNTP pools rescue mtDNA depletion in human POLG‐deficient fibroblasts
C. Blázquez-Bermejo, L. Carreño-Gago, David Molina-Granada, Josu Aguirre +10 more
2019The FASEB Journal26 citations
Semantic Scholar

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