Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

por Bris, Céline, Goudenege, David, Desquiret-Dumas, Valérie, Charif, Majida, Colin, Estelle, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy, Reynier, Pascal, Procaccio, Vincent
Publicado 2018

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

por Charif, Majida, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Colin, Estelle, Ziegler, Alban, Procaccio, Vincent, Reynier, Pascal, Bonneau, Dominique, Lenaers, Guy, Amati-Bonneau, Patrizia
Publicado 2021

Stable and Local Reservoirs of Mycobacterium ulcerans Inferred from the Nonrandom Distribution of Bacterial Genotypes, Benin

por Coudereau, Clément, Besnard, Alban, Robbe-Saule, Marie, Bris, Céline, Kempf, Marie, Johnson, Roch Christian, Brou, Télésphore Yao, Gnimavo, Ronald, Eyangoh, Sara, Khater, Fida, Marion, Estelle
Publicado 2020

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

por Sourty, Baptiste, Dardaud, Laure-Marie, Bris, Céline, Desquiret-Dumas, Valérie, Boisselier, Blandine, Basset, Laëtitia, Figarella-Branger, Dominique, Morel, Alain, Sanson, Marc, Procaccio, Vincent, Rousseau, Audrey
Publicado 2022

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

por Bris, Celine, Rouaud, Tiphaine, Desquiret-Dumas, Valerie, Gueguen, Naig, Goudenege, David, Barth, Magalie, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy, Reynier, Pascal, Lebre, Anne-Sophie, Procaccio, Vincent
Publicado 2017

Mitochondrial DNA Instability Is Common in HIV-Exposed Uninfected Newborns

por 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
Publicado 2021

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

por 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
Publicado 2021

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

por Desquiret-Dumas, Valérie, D’Ottavi, Morgana, Monnin, Audrey, Goudenège, David, Méda, Nicolas, Vizeneux, Amélie, Kankasa, Chipepo, Tylleskar, Thorkild, Bris, Céline, Procaccio, Vincent, Nagot, Nicolas, Van de Perre, Philippe, Reynier, Pascal, Molès, Jean-Pierre
Publicado 2022

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

por Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Kane, Selma, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valerie, Meunier, Isabelle, Mochel, Fanny, Jeanjean, Luc, Varenne, Fanny, Procaccio, Vincent, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy
Publicado 2022

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

por Hechmi, Meriem, Charif, Majida, Kraoua, Ichraf, Fassatoui, Meriem, Dallali, Hamza, Desquiret-Dumas, Valerie, Bris, Céline, Goudenège, David, Drissi, Cyrine, Galaï, Saïd, Ouerhani, Slah, Procaccio, Vincent, Amati-Bonneau, Patrizia, Abdelhak, Sonia, Ben Youssef-Turki, Ilhem, Lenaers, Guy, Kefi, Rym
Publicado 2022

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

por Bobba-Alves, Natalia, Sturm, Gabriel, Lin, Jue, Ware, Sarah A., Karan, Kalpita R., Monzel, Anna S., Bris, Céline, Procaccio, Vincent, Lenaers, Guy, Higgins-Chen, Albert, Levine, Morgan, Horvath, Steve, Santhanam, Balaji S., Kaufman, Brett A., Hirano, Michio, Epel, Elissa, Picard, Martin
Publicado 2023

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

por 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
Publicado 2022

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

por Belal, Sophie, Goudenège, David, Bocca, Cinzia, Dumont, Florent, Chao De La Barca, Juan Manuel, Desquiret-Dumas, Valérie, Gueguen, Naïg, Geffroy, Guillaume, Benyahia, Rayane, Kane, Selma, Khiati, Salim, Bris, Céline, Aranyi, Tamas, Stockholm, Daniel, Inisan, Aurore, Renaud, Aurélie, Barth, Magalie, Simard, Gilles, Reynier, Pascal, Letournel, Franck, Lenaers, Guy, Bonneau, Dominique, Chevrollier, Arnaud, Procaccio, Vincent
Publicado 2022

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

por Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Leruez, Stéphanie, Colin, Estelle, Meunier, Audrey, Vignal, Catherine, Smirnov, Vasily, Defoort-Dhellemmes, Sabine, Drumare Bouvet, Isabelle, Goizet, Cyril, Votruba, Marcela, Jurkute, Neringa, Yu-Wai-Man, Patrick, Tagliavini, Francesca, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Procaccio, Vincent, Zanlonghi, Xavier, Meunier, Isabelle, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy
Publicado 2020

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

por Sturm, Gabriel, Karan, Kalpita R., Monzel, Anna S., Santhanam, Balaji, Taivassalo, Tanja, Bris, Céline, Ware, Sarah A., Cross, Marissa, Towheed, Atif, Higgins-Chen, Albert, McManus, Meagan J., Cardenas, Andres, Lin, Jue, Epel, Elissa S., Rahman, Shamima, Vissing, John, Grassi, Bruno, Levine, Morgan, Horvath, Steve, Haller, Ronald G., Lenaers, Guy, Wallace, Douglas C., St-Onge, Marie-Pierre, Tavazoie, Saeed, Procaccio, Vincent, Kaufman, Brett A., Seifert, Erin L., Hirano, Michio, Picard, Martin
Publicado 2023

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

por Charif, Majida, Gueguen, Naïg, Ferré, Marc, Elkarhat, Zouhair, Khiati, Salim, LeMao, Morgane, Chevrollier, Arnaud, Desquiret-Dumas, Valerie, Goudenège, David, Bris, Céline, Kane, Selma, Alban, Jennifer, Chupin, Stéphanie, Wetterwald, Céline, Caporali, Leonardo, Tagliavini, Francesca, LaMorgia, Chiara, Carbonelli, Michele, Jurkute, Neringa, Barakat, Abdelhamid, Gohier, Philippe, Verny, Christophe, Barth, Magalie, Procaccio, Vincent, Bonneau, Dominique, Zanlonghi, Xavier, Meunier, Isabelle, Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Tonagel, Felix, Kellner, Ulrich, Yu-Wai-Man, Patrick, Carelli, Valerio, Wissinger, Bernd, Amati-Bonneau, Patrizia, Reynier, Pascal, Lenaers, Guy
Publicado 2021

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

por Fasano, Giulia, Muto, Valentina, Radio, Francesca Clementina, Venditti, Martina, Mosaddeghzadeh, Niloufar, Coppola, Simona, Paradisi, Graziamaria, Zara, Erika, Bazgir, Farhad, Ziegler, Alban, Chillemi, Giovanni, Bertuccini, Lucia, Tinari, Antonella, Vetro, Annalisa, Pantaleoni, Francesca, Pizzi, Simone, Conti, Libenzio Adrian, Petrini, Stefania, Bruselles, Alessandro, Prandi, Ingrid Guarnetti, Mancini, Cecilia, Chandramouli, Balasubramanian, Barth, Magalie, Bris, Céline, Milani, Donatella, Selicorni, Angelo, Macchiaiolo, Marina, Gonfiantini, Michaela V., Bartuli, Andrea, Mariani, Riccardo, Curry, Cynthia J., Guerrini, Renzo, Slavotinek, Anne, Iascone, Maria, Dallapiccola, Bruno, Ahmadian, Mohammad Reza, Lauri, Antonella, Tartaglia, Marco
Publicado 2022

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

por Lischka, Annette, Eggermann, Katja, Record, Christopher J, Dohrn, Maike F, Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna M E, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Romero Sánchez, Juan, Suthar, Renu, Udani, Vrajesh, Nalini, Atchayaram, Unnikrishnan, Gopikrishnan, Marques, Wilson, Mercier, Sandra, Procaccio, Vincent, Bris, Céline, Suresh, Beena, Reddy, Vaishnavi, Skorupinska, Mariola, Bonello-Palot, Nathalie, Mochel, Fanny, Dahl, Georg, Sasidharan, Karthika, Devassikutty, Fiji M, Nampoothiri, Sheela, Rodovalho Doriqui, Maria J, Müller-Felber, Wolfgang, Vill, Katharina, Haack, Tobias B, Dufke, Andreas, Abele, Michael, Stucka, Rolf, Siddiqi, Saima, Ullah, Noor, Spranger, Stephanie, Chiabrando, Deborah, Bolgül, Behiye S, Parman, Yesim, Seeman, Pavel, Lampert, Angelika, Schulz, Jörg B, Wood, John N, Cox, James J, Auer-Grumbach, Michaela, Timmerman, Vincent, de Winter, Jonathan, Themistocleous, Andreas C, Shy, Michael, Bennett, David L, Baets, Jonathan, Hübner, Christian A, Leipold, Enrico, Züchner, Stephan, Elbracht, Miriam, Çakar, Arman, Senderek, Jan, Hornemann, Thorsten, Woods, C Geoffrey, Reilly, Mary M, Kurth, Ingo
Publicado 2023