V. Procaccio

J. Martinou, D. Bonneau, P. Amati‐Bonneau, 2011, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT‐TF variant

J. Leid, V. Desquiret-Dumas, Majida Charif, 2015, American journal of medical genetics. Part A.

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations

D. Bonneau, G. Lenaers, P. Reynier, 2016, Journal of the peripheral nervous system : JPNS.

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2021, Frontiers in Neurology.

Relationship between diminished ovarian reserve and mitochondrial biogenesis in cumulus cells.

P. Reynier, V. Procaccio, J. M. C. Barca, 2015, Human reproduction.

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2010, Mitochondrion.

Reversible optic neuropathy with OPA1 exon 5b mutation

D. Wallace, D. Milea, D. Bonneau, 2008, Annals of neurology.

MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences

Pierre Baldi, Vincent Procaccio, Eduardo Ruiz-Pesini, 2009, Human mutation.

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

A. Munnich, M. Brown, V. Procaccio, 2007, American journal of medical genetics. Part A.

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2008, Diabetes & metabolism.

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration

D. Milea, V. Desquiret-Dumas, D. Bonneau, 2011, BMC Research Notes.

Warburg-like effect is a hallmark of complex I assembly defects.

D. Goudenège, V. Desquiret-Dumas, D. Bonneau, 2019, Biochimica et biophysica acta. Molecular basis of disease.

Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I

M. Martin-Négrier, V. Procaccio, J. di Rago, 2021, Scientific Reports.

Perspectives of drug-based neuroprotection targeting mitochondria.

C. Bris, D. Bonneau, P. Amati‐Bonneau, 2014, Revue neurologique.

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

M. Votruba, C. La Morgia, P. Yu-Wai-Man, 2020, Neurology: Genetics.

Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2022, Genes.

Sensorineural hearing loss in OPA1-linked disorders.

M. Larsen, D. Milea, E. Colin, 2013, Brain : a journal of neurology.

The mitochondrial DNA content of cumulus granulosa cells is linked to embryo quality

V. Desquiret-Dumas, P. Reynier, V. Procaccio, 2017, Human reproduction.

Mitochondrial DNA Instability Is Common in HIV-Exposed Uninfected Newborns

J. Molès, C. Bris, D. Goudenège, 2021, Journal of clinical medicine.

Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2022, Biomedicines.

The cytokine profile of follicular fluid changes during ovarian ageing.

P. Reynier, V. Procaccio, J. M. C. de la Barca, 2020, Journal of gynecology obstetrics and human reproduction.

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

A. Munnich, M. Clanet, D. Wallace, 2007, European Journal of Human Genetics.

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

A. Munnich, M. Clanet, D. Wallace, 2006, European Journal of Human Genetics.

Ovarian ageing: the role of mitochondria in oocytes and follicles.

V. Desquiret-Dumas, P. Reynier, V. Procaccio, 2016, Human reproduction update.

BDNF val66met polymorphism is associated with modified experience-dependent plasticity in human motor cortex

S. Cramer, J. Kleim, V. Procaccio, 2006, Nature Neuroscience.

Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment

C. Drissi, C. Bris, D. Goudenège, 2022, Bioscience reports.

Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study.

C. Annweiler, D. Milea, P. Gohier, 2019, Journal of proteome research.

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

C. Bris, V. Procaccio, L. Faivre, 2019, Human mutation.

Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP

Vincent Procaccio, Marie T. Lott, Douglas C. Wallace, 2017, PLoS Comput. Biol..

mtDNA Variation and Analysis Using Mitomap and Mitomaster

Mahdi Sarmady, Vincent Procaccio, Jeremy Leipzig, 2013, Current protocols in bioinformatics.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Magalie S Leduc, M. Konantz, C. Lengerke, 2017, The Journal of clinical investigation.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

Thomas Meitinger, Guy Lenaers, Patrizia Amati-Bonneau, 2016, American journal of human genetics.

Resveratrol Directly Binds to Mitochondrial Complex I and Increases Oxidative Stress in Brain Mitochondria of Aged Mice

V. Desquiret-Dumas, G. Lenaers, P. Reynier, 2015, PloS one.

Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy

Jonathan Schug, Avni Santani, Xiaowu Gai, 2011, BMC Bioinformatics.

Current mechanistic insights into the CCCP‐induced cell survival response

Guy Lenaers, Vincent Procaccio, Pascal Reynier, 2018, Biochemical pharmacology.

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.

D. Wallace, D. Mishmar, E. Ruiz-Pesini, 2009, Molecular genetics and metabolism.

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Dan Milea, Johan T den Dunnen, Xavier Zanlonghi, 2019, Orphanet journal of rare diseases.

The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency

D. Bonneau, P. Amati‐Bonneau, G. Lenaers, 2018, Scientific Reports.

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

V. Desquiret-Dumas, D. Bonneau, P. Amati‐Bonneau, 2017, Journal of cellular and molecular medicine.

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore

J. Loo, D. Milea, D. Bonneau, 2017, Eye.

Mitochondrial dysfunction affecting visual pathways.

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2014, Revue neurologique.

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

J. Pouget, V. Procaccio, A. Chaussenot, 2012, Brain : a journal of neurology.

OPA1-associated disorders: phenotypes and pathophysiology.

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2009, The international journal of biochemistry & cell biology.

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2009, Human mutation.

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect

A. Toutain, D. Bonneau, P. Amati‐Bonneau, 2009, Molecular vision.

Friedreich ataxia: the oxidative stress paradox.

M. Koenig, P. Golik, V. Procaccio, 2005, Human molecular genetics.

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2019, Clinica chimica acta; international journal of clinical chemistry.

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming

Vincent Procaccio, Martin Picard, Shawn Levy, 2014, Proceedings of the National Academy of Sciences.

Lactic Acidosis Together with GM-CSF and M-CSF Induces Human Macrophages toward an Inflammatory Protumor Phenotype

M. Campone, G. Lenaers, V. Procaccio, 2020, Cancer Immunology Research.

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Yufeng Shen, R. Ganetzky, C. Voisset, 2022, Journal of inherited metabolic disease.

Is ABCC6 a genuine mitochondrial protein?

G. Leftheriotis, D. Bonneau, P. Reynier, 2013, BMC Research Notes.

A nonradioactive double detection method for the assignment of spots in two-dimensional blots.

V. Procaccio, T. Rabilloud, M. Chevallet, 1997, Analytical biochemistry.

Mitochondrial Biology and Medicine

D. Wallace, M. Lott, V. Procaccio, 2019, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

Succinate Dehydrogenase Is a Direct Target of Sirtuin 3 Deacetylase Activity

S. Gygi, D. Wallace, W. Haas, 2011, PloS one.

Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome

D. Wallace, V. Kimonis, V. Procaccio, 2011, Neuroscience Letters.

Coordinated Decrease of the Expression of the Mitochondrial and Nuclear Complex I Genes in a Mitochondrial Mutant of Drosophila

S. Touraille, S. Alziari, V. Procaccio, 2004, Journal of bioenergetics and biomembranes.

High‐throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis

P. Klivényi, D. Goudenège, V. Procaccio, 2017, Brain and behavior.

OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

Anna S. Monzel, M. Levine, Saeed Tavazoie, 2023, Communications Biology.

Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory Complex I and immunodetection of the mature protein in mitochondria

V. Procaccio, J. Lunardi, P. Soularue, 1998, Mammalian Genome.

A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations

Anna S. Monzel, D. Belsky, M. Levine, 2021, bioRxiv.

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

M. Martin-Négrier, C. Bris, D. Goudenège, 2021, Genetics in Medicine.

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

E. Puffenberger, K. Strauss, D. Morton, 2013, Proceedings of the National Academy of Sciences.

CLUH couples mitochondrial distribution to the energetic and metabolic status

D. Logan, D. Goudenège, V. Desquiret-Dumas, 2017, Journal of Cell Science.

Study of mitochondrial function in placental insufficiency.

V. Desquiret-Dumas, G. Lenaers, P. Reynier, 2018, Placenta.

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

M. Zeviani, C. Orssaud, A. Torroni, 2012, PloS one.

An enhanced MITOMAP with a global mtDNA mutational phylogeny

Pierre Baldi, Vincent Procaccio, Marie T. Lott, 2006, Nucleic Acids Res..

mtDNA lineage analysis of mouse L-cell lines reveals the accumulation of multiple mtDNA mutants and intermolecular recombination.

D. Wallace, V. Procaccio, P. Potluri, 2012, Genes & development.

Title An enhanced MITOMAP with a global mtDNA mutational phylogeny Permalink

Marty C. Brandon, P. Baldi, D. Wallace, 2006 .

Skeletal muscle transcriptional coactivator PGC-1α mediates mitochondrial, but not metabolic, changes during calorie restriction

C. Clish, V. Desquiret-Dumas, V. Procaccio, 2012, Proceedings of the National Academy of Sciences.

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

P Stieglitz, V. Procaccio, N. Monnier, 1997, American journal of human genetics.

Mitochondrial DNA copy number as a prognostic marker is age-dependent in adult glioblastoma

M. Sanson, D. Figarella-Branger, C. Bris, 2022, Neuro-oncology advances.

Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies

L. Steinmetz, Raeka S. Aiyar, A. Glatigny, 2015, Disease Models & Mechanisms.

Aggregation of actin and cofilin in identical twins with juvenile‐onset dystonia

M. Gearing, C. Gutekunst, D. Wallace, 2002, Annals of neurology.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

High throughput gene complementation screening permits identification of a mammalian mitochondrial protein synthesis (ρ(-)) mutant.

V. Procaccio, P. Potluri, I. Scheffler, 2016, Biochimica et biophysica acta.

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

N. Boddaert, G. Mollet, O. Gribouval, 2014, American Journal of Human Genetics.

The mitochondrial DNA content of cumulus cells may help predict embryo implantation

V. Desquiret-Dumas, P. Reynier, V. Procaccio, 2018, Journal of Assisted Reproduction and Genetics.

Reproductive biology Themitochondrial DNA content of cumulus granulosa cells is linked to embryo quality

V. Desquiret-Dumas, P. Reynier, V. Procaccio, 2017 .

Adaptive selection of mitochondrial complex I subunits during primate radiation.

D. Wallace, B. Gaut, D. Mishmar, 2006, Gene.

Correlation between genetic polymorphisms and stroke recovery: Analysis of the GAIN Americas and GAIN International Studies

S. Cramer, V. Procaccio, Steven C. Cramer, 2012, European journal of neurology.

DMM020438 509..526

L. Steinmetz, Raeka S. Aiyar, A. Glatigny, 2015 .

Role of SUV3 Helicase in Maintaining Mitochondrial Homeostasis in Human Cells*

D. Wallace, Wen-Hwa Lee, V. Procaccio, 2008, Journal of Biological Chemistry.

Long-Term Persistence of Mitochondrial DNA Instability in HIV-Exposed Uninfected Children during and after Exposure to Antiretroviral Drugs and HIV

J. Molès, C. Bris, D. Goudenège, 2022, Biomedicines.

Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease

V. Procaccio, S. Bannwarth, V. Paquis-Flucklinger, 2006, Nature Protocols.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

M. Gearing, C. Gutekunst, B. Wainer, 2006, American journal of human genetics.

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2020, Molecular Biology Reports.

Dual effects of resveratrol on arterial damage induced by insulin resistance in aged mice.

V. Procaccio, D. Henrion, J. Paul, 2014, The journals of gerontology. Series A, Biological sciences and medical sciences.

Mitochondrial macro-haplogroup JT may play a protective role in ovarian ageing.

P. Reynier, V. Procaccio, S. Lemerle, 2014, Mitochondrion.

Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K

D. Bonneau, G. Lenaers, P. Reynier, 2020, Experimental Neurology.

Co-Exposure of Cardiomyocytes to IFN-γ and TNF-α Induces Mitochondrial Dysfunction and Nitro-Oxidative Stress: Implications for the Pathogenesis of Chronic Chagas Disease Cardiomyopathy

H. Nakaya, M. Mano, D. Goudenège, 2021, Frontiers in Immunology.

Estrogen Increases Mitochondrial Efficiency and Reduces Oxidative Stress in Cerebral Blood Vessels

V. Procaccio, D. Krause, S. Duckles, 2005, Molecular Pharmacology.

Expanding the phenotype of DNAJC30‐associated Leigh syndrome

R. Płoski, V. Desquiret-Dumas, V. Procaccio, 2022, Clinical genetics.

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

J. D. den Dunnen, D. Milea, P. Gohier, 2021, Scientific data.

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2011, Mitochondrion.

Neurotoxicity of Insecticides.

G. Lenaers, P. Reynier, V. Procaccio, 2017, Current medicinal chemistry.

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.

V. Procaccio, P. Potluri, S. Bannwarth, 2009, Mitochondrion.

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency.

D. Milea, P. Gohier, D. Bonneau, 2018, Investigative Ophthalmology and Visual Science.

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2017, Neurology: Genetics.

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

Daniel Henrion, Guy Lenaers, Patrizia Amati-Bonneau, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

F. Rivier, Majida Charif, G. Lenaers, 2015, Human molecular genetics.

NOVEL NDUFS 4 GENE MUTATION IN AN ATYPICAL LATE-ONSET MITOCHONDRIAL FORM OF MULTIFOCAL DYSTONIA Mitochondrial

D. Goudenège, V. Desquiret-Dumas, D. Bonneau, 2022 .

Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series

P. Duverger, E. Colin, D. Bonneau, 2021, Frontiers in Psychiatry.

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

A. Starr, A. Busch, Eddie Park, 2015, PLoS genetics.

Title Mutations of Human NARS 2 , Encoding the Mitochondrial Asparaginyl-tRNA Synthetase , Cause Nonsyndromic Deafness and Leigh Syndrome Permalink

A. Starr, A. Busch, Eddie Park, 2015 .

Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial Complex I: genomic organization and expression

P. Lescuyer, H. Smeets, V. Procaccio, 2000, Mammalian Genome.

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.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

A. Munnich, N. Boddaert, A. Rötig, 2020, Human mutation.

Structure, Function and Pathology of Complex I

V. Procaccio, J. Lunardi, J. Issartel, 1999 .

Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series

P. Duverger, E. Colin, D. Bonneau, 2022, Frontiers in Psychiatry.

Resveratrol Induces a Mitochondrial Complex I-dependent Increase in NADH Oxidation Responsible for Sirtuin Activation in Liver Cells*

V. Desquiret-Dumas, D. Bonneau, P. Reynier, 2013, The Journal of Biological Chemistry.

Estrogen and mitochondria: a new paradigm for vascular protection?

V. Procaccio, D. Krause, S. Duckles, 2006, Molecular interventions.

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

M. Carbonelli, P. Gohier, P. Yu-Wai-Man, 2021, Brain communications.

Membrane estrogen receptor alpha (ERα) participates in flow-mediated dilation in a ligand-independent manner

F. Lenfant, V. Procaccio, G. Flouriot, 2021, eLife.

Determinants of Flow-Mediated Outward Remodeling in Female Rodents: Respective Roles of Age, Estrogens, and Timing

F. Lenfant, V. Procaccio, J. Arnal, 2014, Arteriosclerosis, thrombosis, and vascular biology.

High mitochondrial DNA copy number is associated with longer survival in young patients with glioblastoma.

D. Figarella-Branger, C. Bris, V. Desquiret-Dumas, 2019, Neuro-oncology.

Acetoacetate protects macrophages from lactic acidosis-induced mitochondrial dysfunction by metabolic reprograming

P. Reynier, V. Procaccio, F. Manero, 2021, Nature Communications.

Spectrum of pathogenic mtDNA mutations in Leber’s hereditary optic neuropathy families from Siberia

E. Starikovskaya, R. Sukernik, D. Wallace, 2006, Russian Journal of Genetics.

Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants

Marty C. Brandon, D. Wallace, M. Brandon, 2010, Biological chemistry.

Increased prevalence of val66met BDNF genotype among subjects with cervical dystonia

S. Cramer, V. Procaccio, N. Hermanowicz, 2010, Neuroscience Letters.

Resveratrol Improved Flow-Mediated Outward Arterial Remodeling in Ovariectomized Rats with Hypertrophic Effect at High Dose

V. Procaccio, J. Arnal, D. Henrion, 2016, PloS one.

Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy

C. Tilikete, C. Orssaud, D. Milea, 2018, Orphanet Journal of Rare Diseases.

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.

D. Wallace, J. Gargus, P. Calvas, 2008, Mitochondrion.

Mitochondrial complex I defect resulting from exercise-induced lower limb ischemia in patients with peripheral arterial disease.

P. Abraham, C. Baufreton, P. Reynier, 2018, Journal of applied physiology.

Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2017, Human reproduction.

Heme Oxygenase 1 Is Differentially Involved in Blood Flow–Dependent Arterial Remodeling: Role of Inflammation, Oxidative Stress, and Nitric Oxide

V. Procaccio, D. Henrion, B. Toutain, 2011, Hypertension.

Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging

Anna S. Monzel, E. Epel, Balaji Santhanam, 2023, Psychoneuroendocrinology.

Rapid identification of unknown heteroplasmic mitochondrial DNA mutations with mismatch-specific surveyor nuclease.

V. Procaccio, S. Bannwarth, V. Paquis-Flucklinger, 2009, Methods in molecular biology.

Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies

N. Romero, C. Bris, V. Procaccio, 2022, Neuromuscular Disorders.

Central Role of P2Y6 UDP Receptor in Arteriolar Myogenic Tone

H. Monyer, P. Abraham, P. Rousseau, 2016, Arteriosclerosis, thrombosis, and vascular biology.

Bioinformatics resources, databases, and tools for human mtDNA

Marcella Attimonelli, Vincent Procaccio, Marie T. Lott, 2020 .

Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

D. Krainc, D. Bonneau, P. Amati‐Bonneau, 2021, Molecular neurodegeneration.

First characterization of LHON pedigrees in North Africa

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2020, Eye.

Calcium-Channel Receptor inSkeletal Muscle

V. Procaccio, N. Monnier, 1997 .

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Pedro Rebelo-Guiomar, L. Van Haute, M. Minczuk, 2023, Nature Communications.

Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?

P. Amati‐Bonneau, P. Reynier, V. Procaccio, 2014, Journal of Assisted Reproduction and Genetics.

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

D. Bonneau, P. Reynier, V. Procaccio, 2011, Orphanet journal of rare diseases.

APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants

Salvatore Daniele Bianco, T. Mazza, A. Vescovi, 2023, bioRxiv.

Changes in Gene Expression After Exposing Arabidopsis thaliana Plants to Nanosecond High Amplitude Electromagnetic Field Pulses

P. Bonnet, V. Procaccio, A. Vian, 2023, Bioelectromagnetics.

DMM020438 509..526

L. Steinmetz, Raeka S. Aiyar, A. Glatigny, 2015 .

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency.

D. Milea, P. Gohier, D. Bonneau, 2018, Investigative ophthalmology & visual science.

Reply: The expanding neurological phenotype of DNM1L-related disorders.

N. Boddaert, D. Bonneau, P. Amati‐Bonneau, 2018, Brain : a journal of neurology.

IL-26 Confers Proinflammatory Properties to Extracellular DNA

V. Procaccio, C. Créminon, H. Fickenscher, 2017, The Journal of Immunology.

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

C. Bris, V. Desquiret-Dumas, D. Bonneau, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

D. Milea, V. Desquiret-Dumas, D. Bonneau, 2017, Investigative ophthalmology & visual science.

Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation

J. Martinou, D. Bonneau, P. Amati‐Bonneau, 2011, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic Preconditioning.

D. Bonneau, G. Lenaers, P. Reynier, 2017, Analytical chemistry.

High throughput gene complementation screening permits identification of a mammalian mitochondrial protein synthesis (ρ(-)) mutant.

V. Procaccio, P. Potluri, I. Scheffler, 2016, Biochimica et biophysica acta.

Consequences of the pathogenic T9176C mutation of human mitochondrial DNA on yeast mitochondrial ATP synthase.

V. Procaccio, R. Kucharczyk, Nahia Ezkurdia, 2010, Biochimica et biophysica acta.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

David L. Bennett, T. Hornemann, S. Züchner, 2023, Brain : a journal of neurology.

Sensorineural hearing loss in OPA1-linked disorders

D. Milea, D. Bonneau, G. Lenaers, 2013 .

Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging

Anna S. Monzel, E. Epel, Balaji Santhanam, 2023, Psychoneuroendocrinology.