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Dual effects of resveratrol on arterial damage induced by insulin resistance in aged mice.
Published in:
2014
By:
- Baron, Stephanie;
- Bedarida, Tatiana;
- Cottart, Charles-Henry;
- Vibert, Francoise;
- Vessieres, Emilie;
- Ayer, Audrey;
- Henrion, Daniel;
- Hommeril, Baptiste;
- Paul, Jean-Louis;
- Renault, Gilles;
- Saubamea, Bruno;
- Beaudeux, Jean-Louis;
- Procaccio, Vincent;
- Nivet-Antoine, Valerie
Publication type:
Journal Article
Dual Effects of Resveratrol on Arterial Damage Induced By Insulin Resistance in Aged Mice.
Published in:
Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2014, v. 69A, n. 3, p. 260, doi. 10.1093/gerona/glt081
By:
- Baron, Stephanie;
- Bedarida, Tatiana;
- Cottart, Charles-Henry;
- Vibert, Francoise;
- Vessieres, Emilie;
- Ayer, Audrey;
- Henrion, Daniel;
- Hommeril, Baptiste;
- Paul, Jean-Louis;
- Renault, Gilles;
- Saubamea, Bruno;
- Beaudeux, Jean-Louis;
- Procaccio, Vincent;
- Nivet-Antoine, Valerie
Publication type:
Article
ACO2 clinicobiological dataset with extensive phenotype ontology annotation.
Published in:
Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-021-00984-x
By:
- Guehlouz, Khadidja;
- Foulonneau, Thomas;
- Amati-Bonneau, Patrizia;
- Charif, Majida;
- Colin, Estelle;
- Bris, Céline;
- Desquiret-Dumas, Valérie;
- Milea, Dan;
- Gohier, Philippe;
- Procaccio, Vincent;
- Bonneau, Dominique;
- den Dunnen, Johan T.;
- Lenaers, Guy;
- Reynier, Pascal;
- Ferré, Marc
Publication type:
Article
How Can a Ketogenic Diet Improve Motor Function?
Published in:
Frontiers in Molecular Neuroscience, 2018, p. 1, doi. 10.3389/fnmol.2018.00015
By:
- Veyrat-Durebex, Charlotte;
- Reynier, Pascal;
- Procaccio, Vincent;
- Hergesheimer, Rudolf;
- Corcia, Philippe;
- Andres, Christian R.;
- Blasco, Hélène
Publication type:
Article
Dominant optic atrophy.
Published in:
2012
By:
- Lenaers, Guy;
- Hamel, Christian;
- Delettre, Cécile;
- Amati-Bonneau, Patrizia;
- Procaccio, Vincent;
- Bonneau, Dominique;
- Reynier, Pascal;
- Milea, Dan
Publication type:
journal article
Dominant optic atrophy.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 46, doi. 10.1186/1750-1172-7-46
By:
- Lenaers, Guy;
- Hamel, Christian;
- Delettre, C‚cile;
- Amati-Bonneau, Patrizia;
- Procaccio, Vincent;
- Bonneau, Dominique;
- Reynier, Pascal;
- Milea, Dan
Publication type:
Article
Reply: The expanding neurological phenotype of DNM1L-related disorders.
Published in:
2018
By:
- Gerber, Sylvie;
- Charif, Majida;
- Chevrollier, Arnaud;
- Chaumette, Tanguy;
- Angebault, Claire;
- Kane, Selma;
- Paris, Aurélien;
- Alban, Jennifer;
- Quiles, Mélanie;
- Delettre, Cécile;
- Bonneau, Dominique;
- Procaccio, Vincent;
- Amati-Bonneau, Patrizia;
- Reynier, Pascal;
- Leruez, Stéphanie;
- Calmon, Raphael;
- Boddaert, Nathalie;
- Funalot, Benoit;
- Rio, Marlène;
- Bouccara, Didier
Publication type:
Letter
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Published in:
2017
By:
- Gerber, Sylvie;
- Charif, Majida;
- Chevrollier, Arnaud;
- Chaumette, Tanguy;
- Angebault, Claire;
- Selma Kane, Mariame;
- Paris, Aurélien;
- Alban, Jennifer;
- Quiles, Mélanie;
- Delettre, Cécile;
- Bonneau, Dominique;
- Procaccio, Vincent;
- Amati-Bonneau, Patrizia;
- Reynier, Pascal;
- Leruez, Stéphanie;
- Calmon, Raphael;
- Boddaert, Nathalie;
- Funalot, Benoit;
- Rio, Marlène;
- Bouccara, Didier
Publication type:
journal article
Mitochondrial DNA Instability Is Common in HIV-Exposed Uninfected Newborns.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 11, p. 2399, doi. 10.3390/jcm10112399
By:
- Monnin, Audrey;
- Desquiret-Dumas, Valérie;
- Méda, Nicolas;
- Goudenège, David;
- Bris, Céline;
- Kankasa, Chipepo;
- Singata-Madliki, Mandisa;
- Tylleskar, Thorkild;
- Procaccio, Vincent;
- Nagot, Nicolas;
- Van de Perre, Philippe;
- Reynier, Pascal;
- Molès, Jean-Pierre
Publication type:
Article
A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies.
Published in:
Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 631, doi. 10.3390/jcm9030631
By:
- Chao de la Barca, Juan M.;
- Rondet-Courbis, Barnabé;
- Ferré, Marc;
- Muller, Jeanne;
- Buisset, Adrien;
- Leruez, Stéphanie;
- Plubeau, Guillaume;
- Macé, Thibaut;
- Moureauzeau, Laurie;
- Chupin, Stéphanie;
- Tessier, Lydie;
- Blanchet, Odile;
- Lenaers, Guy;
- Procaccio, Vincent;
- Mirebeau-Prunier, Delphine;
- Simard, Gilles;
- Gohier, Philippe;
- Miléa, Dan;
- Reynier, Pascal
Publication type:
Article
A Data Mining Metabolomics Exploration of Glaucoma.
Published in:
Metabolites (2218-1989), 2020, v. 10, n. 2, p. 49, doi. 10.3390/metabo10020049
By:
- Kouassi Nzoughet, Judith;
- Guehlouz, Khadidja;
- Leruez, Stéphanie;
- Gohier, Philippe;
- Bocca, Cinzia;
- Muller, Jeanne;
- Blanchet, Odile;
- Bonneau, Dominique;
- Simard, Gilles;
- Milea, Dan;
- Procaccio, Vincent;
- Lenaers, Guy;
- Chao de la Barca, Juan M.;
- Reynier, Pascal
Publication type:
Article
Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.
Published in:
Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.864445
By:
- Riquin, Elise;
- Barth, Magalie;
- Le Nerzé, Thomas;
- Pasquini, Natwin;
- Prouteau, Clement;
- Colin, Estelle;
- Amati Bonneau, Patrizia;
- Procaccio, Vincent;
- Van Bogaert, Patrick;
- Duverger, Philippe;
- Bonneau, Dominique;
- Roy, Arnaud
Publication type:
Article
Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.
Published in:
Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.685532
By:
- Riquin, Elise;
- Le Nerzé, Thomas;
- Pasquini, Natwin;
- Barth, Magalie;
- Prouteau, Clément;
- Colin, Estelle;
- Amati Bonneau, Patrizia;
- Procaccio, Vincent;
- Van Bogaert, Patrick;
- Duverger, Philippe;
- Bonneau, Dominique;
- Roy, Arnaud
Publication type:
Article
An enhanced MITOMAP with a global mtDNA mutational phylogeny.
Published in:
Nucleic Acids Research, 2007, v. 35, p. d823, doi. 10.1093/nar/gkl927
By:
- Ruiz-Pesini, Eduardo;
- Lott, Marie T.;
- Procaccio, Vincent;
- Poole, Jason C.;
- Brandon, Marty C.;
- Mishmar, Dan;
- Yi, Christina;
- Kreuziger, James;
- Baldi, Pierre;
- Wallace, Douglas C.
Publication type:
Article
Acetoacetate protects macrophages from lactic acidosis-induced mitochondrial dysfunction by metabolic reprograming.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-27426-x
By:
- Adam, Clément;
- Paolini, Léa;
- Gueguen, Naïg;
- Mabilleau, Guillaume;
- Preisser, Laurence;
- Blanchard, Simon;
- Pignon, Pascale;
- Manero, Florence;
- Le Mao, Morgane;
- Morel, Alain;
- Reynier, Pascal;
- Beauvillain, Céline;
- Delneste, Yves;
- Procaccio, Vincent;
- Jeannin, Pascale
Publication type:
Article
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 565, doi. 10.1002/ajmg.a.61384
By:
- Tessarech, Marine;
- Gorce, Magali;
- Boussion, Françoise;
- Bault, Jean‐Philippe;
- Triau, Stéphane;
- Charif, Majida;
- Khiaty, Salim;
- Delorme, Benoit;
- Guichet, Agnès;
- Ziegler, Alban;
- Bris, Céline;
- Laquerrière, Annie;
- Fallet‐Bianco, Catherine;
- Jacquette, Aurélia;
- Salhi, Houria;
- Héron, Delphine;
- Reynier, Pascal;
- Procaccio, Vincent;
- Bonneau, Dominique;
- Colin, Estelle
Publication type:
Article
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2366, doi. 10.1002/ajmg.a.37188
By:
- Charif, Majida;
- Titah, Salah Mohamed Cherif;
- Roubertie, Agathe;
- Desquiret‐Dumas, Valérie;
- Gueguen, Naig;
- Meunier, Isabelle;
- Leid, Jean;
- Massal, Frédéric;
- Zanlonghi, Xavier;
- Mercier, Jacques;
- Raynaud de Mauverger, Eric;
- Procaccio, Vincent;
- de Camaret, Bénédicte Mousson;
- Lenaers, Guy;
- Hamel, Christian P.
Publication type:
Article
Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires: Actions de la sous-commission Génétique Moléculaire de Filnemus.
Published in:
Médecine Sciences, 2018, v. 34, p. 20, doi. 10.1051/medsci/201834s206
By:
- Perrin, Aurélien;
- Latour, Philippe;
- Procaccio, Vincent;
- Jardel, Claude;
- Cérino, Mathieu;
- Bonne, Gisèle;
- Salort-Campana, Emmanuelle;
- Urtizberea, J. Andoni;
- Pouget, Jean;
- Krahn, Martin;
- Cossée, Mireille
Publication type:
Article
Intérêt du séquençage combiné du génome mitochondrial et d'un panel ciblé de gènes nucléaires impliqués dans les maladies mitochondriales.
Published in:
Annales de Biologie Clinique, 2021, v. 79, n. 1, p. 28, doi. 10.1684/abc.2021.1621
By:
- Rucheton, Benoit;
- Ader, Flavie;
- Goudenege, David;
- Filaut, Sandrine;
- Legrand, Laura;
- Bloch, Adrien;
- MitoDiag, Réseau;
- Fressart, Véronique;
- Bonnefont-Rousselot, Dominique;
- Mochel, Fanny;
- Lamari, Foudil;
- Richard, Pascale;
- Procaccio, Vincent;
- Bannwarth, Sylvie
Publication type:
Article
High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.
Published in:
Brain & Behavior, 2017, v. 7, n. 4, p. n/a, doi. 10.1002/brb3.669
By:
- Tripolszki, Kornélia;
- Török, Dóra;
- Goudenège, David;
- Farkas, Katalin;
- Sulák, Adrienn;
- Török, Nóra;
- Engelhardt, József I.;
- Klivényi, Péter;
- Procaccio, Vincent;
- Nagy, Nikoletta;
- Széll, Márta
Publication type:
Article
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40797-7
By:
- Bianco, Salvatore Daniele;
- Parca, Luca;
- Petrizzelli, Francesco;
- Biagini, Tommaso;
- Giovannetti, Agnese;
- Liorni, Niccolò;
- Napoli, Alessandro;
- Carella, Massimo;
- Procaccio, Vincent;
- Lott, Marie T.;
- Zhang, Shiping;
- Vescovi, Angelo Luigi;
- Wallace, Douglas C.;
- Caputo, Viviana;
- Mazza, Tommaso
Publication type:
Article
Resveratrol Directly Binds to Mitochondrial Complex I and Increases Oxidative Stress in Brain Mitochondria of Aged Mice.
Published in:
PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0144290
By:
- Gueguen, Naïg;
- Desquiret-Dumas, Valérie;
- Leman, Géraldine;
- Chupin, Stéphanie;
- Baron, Stéphanie;
- Nivet-Antoine, Valérie;
- Vessières, Emilie;
- Ayer, Audrey;
- Henrion, Daniel;
- Lenaers, Guy;
- Reynier, Pascal;
- Procaccio, Vincent
Publication type:
Article
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy.
Published in:
PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042242
By:
- Achilli, Alessandro;
- Iommarini, Luisa;
- Olivieri, Anna;
- Pala, Maria;
- Kashani, Baharak Hooshiar;
- Reynier, Pascal;
- Morgia, Chiara La;
- Valentino, Maria Lucia;
- Liguori, Rocco;
- Pizza, Fabio;
- Barboni, Piero;
- Sadun, Federico;
- De Negri, Anna Maria;
- Zeviani, Massimo;
- Dollfus, Helene;
- Moulignier, Antoine;
- Ducos, Ghislaine;
- Orssaud, Christophe;
- Bonneau, Dominique;
- Procaccio, Vincent
Publication type:
Article
Succinate Dehydrogenase Is a Direct Target of Sirtuin 3 Deacetylase Activity.
Published in:
PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023295
By:
- Finley, Lydia W. S.;
- Haas, Wilhelm;
- Desquiret-Dumas, Valérie;
- Wallace, Douglas C.;
- Procaccio, Vincent;
- Gygi, Steven P.;
- Haigis, Marcia C.
Publication type:
Article
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.
Published in:
2019
By:
- Le Roux, Bastien;
- Lenaers, Guy;
- Zanlonghi, Xavier;
- Amati-Bonneau, Patrizia;
- Chabrun, Floris;
- Foulonneau, Thomas;
- Caignard, Angélique;
- Leruez, Stéphanie;
- Gohier, Philippe;
- Procaccio, Vincent;
- Milea, Dan;
- den Dunnen, Johan T.;
- Reynier, Pascal;
- Ferré, Marc
Publication type:
journal article
Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.
Published in:
2018
By:
- Leruez, Stéphanie;
- Verny, Christophe;
- Bonneau, Dominique;
- Procaccio, Vincent;
- Lenaers, Guy;
- Amati-Bonneau, Patrizia;
- Reynier, Pascal;
- Scherer, Clarisse;
- Prundean, Adriana;
- Orssaud, Christophe;
- Zanlonghi, Xavier;
- Rougier, Marie-Bénédicte;
- Tilikete, Caroline;
- Miléa, Dan;
- Leruez, Stéphanie;
- Rougier, Marie-Bénédicte;
- Miléa, Dan
Publication type:
journal article
Membrane estrogen receptor alpha (ERα) participates in flow- mediated dilation in a ligand- independent manner.
Published in:
eLife, 2021, p. 1, doi. 10.7554/eLife.68695
By:
- Favre, Julie;
- Vessieres, Emilie;
- Guihot, Anne- Laure;
- Proux, Coralyne;
- Grimaud, Linda;
- Rivron, Jordan;
- Garcia, Manuela CL;
- Réthoré, Léa;
- Zahreddine, Rana;
- Davezac, Morgane;
- Fébrissy, Chanaelle;
- Adlanmerini, Marine;
- Loufrani, Laurent;
- Procaccio, Vincent;
- Foidart, Jean- Michel;
- Flouriot, Gilles;
- Lenfant, Françoise;
- Fontaine, Coralie;
- Arnal, Jean- François;
- Henrion, Daniel
Publication type:
Article
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10910-w
By:
- Salpietro, Vincenzo;
- Dixon, Christine L.;
- Guo, Hui;
- Bello, Oscar D.;
- Vandrovcova, Jana;
- Efthymiou, Stephanie;
- Maroofian, Reza;
- Heimer, Gali;
- Burglen, Lydie;
- Valence, Stephanie;
- Torti, Erin;
- Hacke, Moritz;
- Rankin, Julia;
- Tariq, Huma;
- Colin, Estelle;
- Procaccio, Vincent;
- Striano, Pasquale;
- Mankad, Kshitij;
- Lieb, Andreas;
- Chen, Sharon
Publication type:
Article
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 528, doi. 10.1038/ejhg.2012.202
By:
- Fragaki, Konstantina;
- Ait-El-Mkadem, Samira;
- Chaussenot, Annabelle;
- Gire, Catherine;
- Mengual, Raymond;
- Bonesso, Laurent;
- Bénéteau, Marie;
- Ricci, Jean-Ehrland;
- Desquiret-Dumas, Valérie;
- Procaccio, Vincent;
- Rötig, Agnès;
- Paquis-Flucklinger, Véronique
Publication type:
Article
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1145, doi. 10.1038/sj.ejhg.5201891
By:
- Lévêque, Marianne;
- Marlin, Sandrine;
- Jonard, Laurence;
- Procaccio, Vincent;
- Reynier, Pascal;
- Amati-Bonneau, Patrizia;
- Baulande, Sylvain;
- Pierron, Denis;
- Lacombe, Didier;
- Duriez, Françoise;
- Francannet, Christine;
- Mom, Thierry;
- Journel, Hubert;
- Catros, Hélène;
- Drouin-Garraud, Valérie;
- Obstoy, Marie-Françoise;
- Dollfus, Hélène;
- Eliot, Marie-Madeleine;
- Faivre, Laurence;
- Duvillard, Christian
Publication type:
Article
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Published in:
2007
By:
- Naïmi, Mourad;
- Bannwarth, Sylvie;
- Procaccio, Vincent;
- Pouget, Jean;
- Desnuelle, Claude;
- Pellissier, Jean-François;
- Rötig, Agnes;
- Munnich, Arnold;
- Calvas, Patrick;
- Richelme, Christian;
- Jonveaux, Philippe;
- Castelnovo, Giovanni;
- Simon, Mariella;
- Clanet, Michel;
- Wallace, Douglas;
- Paquis-Flucklinger, Véronique
Publication type:
Correction Notice
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 8, p. 917, doi. 10.1038/sj.ejhg.5201627
By:
- Naïmi, Mourad;
- Bannwarth, Sylvie;
- Procaccio, Vincent;
- Pouget, Jean;
- Desnuelle, Claude;
- Pellissier, Jean-François;
- Rötig, Agnes;
- Munnich, Arnold;
- Calvas, Patrick;
- Richelme, Christian;
- Jonveaux, Philippe;
- Castelnovo, Giovanni;
- Simon, Melvin;
- Clanet, Michel;
- Wallace, Douglas;
- Paquis-Flucklinger, Véronique
Publication type:
Article
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
Published in:
Bioscience Reports, 2022, v. 42, n. 9, p. 1, doi. 10.1042/BSR20220194
By:
- Hechmi, Meriem;
- Charif, Majida;
- Kraoua, Ichraf;
- Fassatoui, Meriem;
- Dallali, Hamza;
- Desquiret-Dumas, Valerie;
- Bris, Céline;
- Goudenège, David;
- Drissi, Cyrine;
- GalaÏ, SaÏ;
- Ouerhani, Slah;
- Procaccio, Vincent;
- Amati-Bonneau, Patrizia;
- Abdelhak, Sonia;
- Youssef-Turki, Ilhem Ben;
- Lenaers, Guy;
- Kefi, Rym
Publication type:
Article
Two-dimensional electrophoresis of human placental mitochondria and protein identification by mass spectrometry: Toward a human mitochondrial proteome.
Published in:
Electrophoresis, 1998, v. 19, n. 6, p. 1006, doi. 10.1002/elps.1150190616
By:
- Rabilloud, Thierry;
- Kieffer, Sylvie;
- Procaccio, Vincent;
- Louwagie, Mathilde;
- Courchesne, Paul L.;
- Patterson, Scott D.;
- Martinez, Pascal;
- Garin, Jerome;
- Lunardi, Joël
Publication type:
Article
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Published in:
Molecular Biology Reports, 2020, v. 47, n. 5, p. 3779, doi. 10.1007/s11033-020-05425-3
By:
- Felhi, Rahma;
- Charif, Majida;
- Sfaihi, Lamia;
- Mkaouar-Rebai, Emna;
- Desquiret-Dumas, Valerie;
- Kallel, Rim;
- Bris, Céline;
- Goudenège, David;
- Guichet, Agnès;
- Bonneau, Dominique;
- Procaccio, Vincent;
- Reynier, Pascal;
- Amati-Bonneau, Patrizia;
- Hachicha, Mongia;
- Fakhfakh, Faiza;
- Lenaers, Guy
Publication type:
Article
Data-Mining Approach on Transcriptomics and Methylomics Placental Analysis Highlights Genes in Fetal Growth Restriction.
Published in:
Frontiers in Genetics, 2020, v. 10, p. 1, doi. 10.3389/fgene.2019.01292
By:
- Chabrun, Floris;
- Huetz, Noémie;
- Dieu, Xavier;
- Rousseau, Guillaume;
- Bouzillé, Guillaume;
- Chao de la Barca, Juan Manuel;
- Procaccio, Vincent;
- Lenaers, Guy;
- Blanchet, Odile;
- Legendre, Guillaume;
- Mirebeau-Prunier, Delphine;
- Cuggia, Marc;
- Guardiola, Philippe;
- Reynier, Pascal;
- Gascoin, Geraldine
Publication type:
Article
High mitochondrial DNA copy number is associated with longer survival in young patients with glioblastoma.
Published in:
Neuro-Oncology, 2019, v. 21, n. 8, p. 1084, doi. 10.1093/neuonc/noz072
By:
- Dardaud, Laure-Marie;
- Bris, Céline;
- Desquiret-Dumas, Valérie;
- Boisselier, Blandine;
- Tabouret, Emeline;
- Mokhtari, Karima;
- Figarella-Branger, Dominique;
- Rousseau, Audrey;
- Procaccio, Vincent
Publication type:
Article
Is ABCC6 a genuine mitochondrial protein?
Published in:
BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-427
By:
- Ferré, Marc;
- Reynier, Pascal;
- Chevrollier, Arnaud;
- Prunier-Mirebeau, Delphine;
- Lefthériotis, Georges;
- Henrion, Daniel;
- Bonneau, Dominique;
- Procaccio, Vincent;
- Martin, Ludovic
Publication type:
Article
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.
Published in:
Journal of Cellular & Molecular Medicine, 2017, v. 21, n. 10, p. 2284, doi. 10.1111/jcmm.13149
By:
- Kane, Mariame Selma;
- Alban, Jennifer;
- Desquiret‐Dumas, Valérie;
- Gueguen, Naïg;
- Ishak, Layal;
- Ferre, Marc;
- Amati‐Bonneau, Patrizia;
- Procaccio, Vincent;
- Bonneau, Dominique;
- Lenaers, Guy;
- Reynier, Pascal;
- Chevrollier, Arnaud
Publication type:
Article
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. e301, doi. 10.1093/brain/awu184
By:
- Bonneau, Dominique;
- Colin, Estelle;
- Oca, Florine;
- Ferré, Marc;
- Chevrollier, Arnaud;
- Guéguen, Naïg;
- Desquiret-Dumas, Valérie;
- N'Guyen, Sylvie;
- Barth, Magalie;
- Zanlonghi, Xavier;
- Rio, Marlène;
- Desguerre, Isabelle;
- Barnerias, Christine;
- Momtchilova, Marta;
- Rodriguez, Diana;
- Slama, Abdelhamid;
- Lenaers, Guy;
- Procaccio, Vincent;
- Amati-Bonneau, Patrizia;
- Reynier, Pascal
Publication type:
Article
Sensorineural hearing loss in OPA1-linked disorders.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. e236, doi. 10.1093/brain/aws340
By:
- Leruez, Stéphanie;
- Milea, Dan;
- Defoort-Dhellemmes, Sabine;
- Colin, Estelle;
- Crochet, Martine;
- Procaccio, Vincent;
- Ferré, Marc;
- Lamblin, Julie;
- Drouin, Valérie;
- Vincent-Delorme, Catherine;
- Lenaers, Guy;
- Hamel, Christian;
- Blanchet, Catherine;
- Juul, Gitte;
- Larsen, Michael;
- Verny, Christophe;
- Reynier, Pascal;
- Amati-Bonneau, Patrizia;
- Bonneau, Dominique
Publication type:
Article
Reply: MFN2 mutations cause compensatory mitochondrial DNA proliferation.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e220, doi. 10.1093/brain/aws052
By:
- Rouzier, Cécile;
- Bannwarth, Sylvie;
- Chaussenot, Annabelle;
- Chevrollier, Arnaud;
- Verschueren, Annie;
- Bonello-Palot, Nathalie;
- Fragaki, Konstantina;
- Cano, Aline;
- Pouget, Jean;
- Pellissier, Jean-François;
- Procaccio, Vincent;
- Chabrol, Brigitte;
- Paquis-Flucklinger, Véronique
Publication type:
Article
Reply: MFN2, a new gene responsible for mitochondrial DNA depletion.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e224, doi. 10.1093/brain/aws112
By:
- Rouzier, Cécile;
- Serre, Valérie;
- Chaussenot, Annabelle;
- Bannwarth, Sylvie;
- Chevrollier, Arnaud;
- Verschueren, Annie;
- Bonello-Palot, Nathalie;
- Fragaki, Konstantina;
- Cano, Aline;
- Pouget, Jean;
- Pellissier, Jean-François;
- Procaccio, Vincent;
- Munnich, Arnold;
- Chabrol, Brigitte;
- Paquis-Flucklinger, Véronique
Publication type:
Article
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 1, p. 23, doi. 10.1093/brain/awr323
By:
- Rouzier, Cécile;
- Bannwarth, Sylvie;
- Chaussenot, Annabelle;
- Chevrollier, Arnaud;
- Verschueren, Annie;
- Bonello-Palot, Nathalie;
- Fragaki, Konstantina;
- Cano, Aline;
- Pouget, Jean;
- Pellissier, Jean-François;
- Procaccio, Vincent;
- Chabrol, Brigitte;
- Paquis-Flucklinger, Véronique
Publication type:
Article
Bioenergetic defect associated with mK<sub>ATP</sub> channel opening in a mouse model carrying a mitofusin 2 mutation.
Published in:
FASEB Journal, 2011, v. 25, n. 5, p. 1618, doi. 10.1096/fj.10-173609
By:
- Guillet, Virginie;
- Gueguen, Naïg;
- Cartoni, Romain;
- Chevrollier, Arnaud;
- Desquiret, Valérie;
- Angebault, Claire;
- Amati-Bonneau, Patrizia;
- Procaccio, Vincent;
- Bonneau, Dominique;
- Martinou, Jean-Claude;
- Reynier, Pascal
Publication type:
Article
A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations.
Published in:
Scientific Data, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41597-022-01852-y
By:
- Sturm, Gabriel;
- Monzel, Anna S.;
- Karan, Kalpita R.;
- Michelson, Jeremy;
- Ware, Sarah A.;
- Cardenas, Andres;
- Lin, Jue;
- Bris, Céline;
- Santhanam, Balaji;
- Murphy, Michael P.;
- Levine, Morgan E.;
- Horvath, Steve;
- Belsky, Daniel W.;
- Wang, Shuang;
- Procaccio, Vincent;
- Kaufman, Brett A.;
- Hirano, Michio;
- Picard, Martin
Publication type:
Article
Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
Published in:
2023
By:
- Baide‐Mairena, Heidy;
- Coget, Arthur;
- Leboucq, Nicolas;
- Procaccio, Vincent;
- Blanluet, Maud;
- Meyer, Pierre;
- Malinge, Marie‐Claire;
- François‐Heude, Marie‐Céline;
- Moreno, Mathis;
- Geneviève, David;
- Marelli, Cecilia;
- Roubertie, Agathe
Publication type:
Case Study
Expanding the phenotype of DNAJC30‐associated Leigh syndrome.
Published in:
Clinical Genetics, 2022, v. 102, n. 5, p. 438, doi. 10.1111/cge.14196
By:
- Zawadzka, Marta;
- Krygier, Magdalena;
- Pawłowicz, Małgorzata;
- Wilke, Matheus Vernet Machado Bressan;
- Rutkowska, Karolina;
- Gueguen, Naig;
- Desquiret‐Dumas, Valerie;
- Klee, Eric W.;
- Schimmenti, Lisa A.;
- Sławek, Jarosław;
- Procaccio, Vincent;
- Płoski, Rafał;
- Mazurkiewicz‐Bełdzińska, Maria
Publication type:
Article
Detection of Low Levels of the Mitochondrial tRNA<sup>Leu(UUR)</sup> 3243A>G Mutation in Blood Derived from Patients with Diabetes.
Published in:
Molecular Diagnosis & Therapy, 2006, v. 10, n. 6, p. 381, doi. 10.1007/BF03256215
By:
- Procaccio, Vincent;
- Neckelmann, Nicolas;
- Paquis-Flucklinger, Veronique;
- Bannwarth, Sylvie;
- Jimenez, Richard;
- Davila, Antonio;
- Poole, Jason C.;
- Wallace, Douglas C.
Publication type:
Article
Hereditary optic neuropathies share a common mitochondrial coupling defect.
Published in:
Annals of Neurology, 2008, v. 63, n. 6, p. 794, doi. 10.1002/ana.21385
By:
- Chevrollier, Arnaud;
- Guillet, Virginie;
- Loiseau, Dominique;
- Gueguen, Naïg;
- Pou de Crescenzo, Marie-Anne;
- Verny, Christophe;
- Ferre, Marc;
- Dollfus, Hélène;
- Odent, Sylvie;
- Milea, Dan;
- Goizet, Cyril;
- Amati-Bonneau, Patrizia;
- Procaccio, Vincent;
- Bonneau, Dominique;
- Reynier, Pascal
Publication type:
Article

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