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SaveAn Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein
Reynier, Pascal; Amati-Bonneau, Patrizia; Desquiret-Dumas, Valerie; Ferre, Marc; Gueguen, Naig; Plouzennec, Solenn; Michel, Mathieu; Chevrollier, Arnaud; Pegat, Antoine; Orssaud, Christophe Share Save Share Save Share Save Share Save The copper ionophore disulfiram improves mitochondrial function in various yeast and human cellular models of mitochondrial diseasesAlmyre, Claire; Bounaix, Nolwenn; Godard, Francois; Baris, Olivier R.; Cayer, Anne-Louise; Sardin, Elodie; Bouhier, Marine; Hoarau, Anais; Dard, Laetitia; Richard, Jeremy; Bergeron, Vanessa; Renaud, Aurelie; Loaec, Nadege; Gueguen, Naig; Desquiret-Dumas, Valerie; Lelievre, Benedicte; Inisan, Aurore; Panozzo, Cristina; Dujardin, Geneveve; Blondel, Marc; Rotig, Agnes; Paquis-Flucklinger, Veronique; Azoulay, Stephane; Bonnefoy, Nathalie; Sellem, Carole H.; Delahodde, Agnes; Procaccio, Vincent; Tribouillard-Tanvier, Deborah Share Save Share Save Glycogenesis and glyconeogenesis from glutamine, lactate and glycerol support human macrophage functionsJeroundi, Najia; Roy, Charlotte; Basset, Laetitia; Pignon, Pascale; Preisser, Laurence; Blanchard, Simon; Bocca, Cinzia; Abadie, Cyril; Lalande, Julie; Gueguen, Naig; Mabilleau, Guillaume; Lenaers, Guy; Moreau, Aurelie; Copin, Marie-Christine; Tcherkez, Guillaume; Delneste, Yves; Couez, Dominique; Jeannin, Pascale Share Save Primary mitochondrial disorders and mimics: Insights from a large French cohortRouzier, Cecile; Pion, Emmanuelle; Chaussenot, Annabelle; Bris, Celine; Ait-El-Mkadem Saadi, Samira; Desquiret-Dumas, Valerie; Gueguen, Naig; Fragaki, Konstantina; Amati-Bonneau, Patrizia; Barcia, Giulia; Gaignard, Pauline; Steffann, Julie; Pennisi, Alessandra; Bonnefont, Jean-Paul; Lebigot, Elise; Bannwarth, Sylvie; Francou, Bruno; Rucheton, Benoit; Sternberg, Damien; Martin-Negrier, Marie-Laure; Trimouille, Aurelien; Hardy, Gaelle; Allouche, Stephane; Acquaviva-Bourdain, Cecile; Pagan, Cecile; Lebre, Anne-Sophie; Reynier, Pascal; Cossee, Mireille; Attarian, Shahram; Paquis-Flucklinger, Veronique; Procaccio, Vincent Share Save Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondriaChevrollier, Arnaud; Bonnard, Adeline Alice; Ruaud, Lyse; Gueguen, Naig; Perrin, Laurence; Desquiret-Dumas, Valerie; Guimiot, Fabien; Becker, Pierre-Hadrien; Levy, Jonathan; Reynier, Pascal; Gaignard, Pauline Share Save Kynurenic Acid: A Novel Player in Cardioprotection against Myocardial Ischemia/Reperfusion InjuriesKamel, Rima; Baetz, Delphine; Gueguen, Naig; Lebeau, Lucie; Barbelivien, Agnes; Guihot, Anne-Laure; Allawa, Louwana; Gallet, Jean; Beaumont, Justine; Ovize, Michel; Henrion, Daniel; Reynier, Pascal; Mirebeau-Prunier, Delphine; Prunier, Fabrice; Tamareille, Sophie Share Save Share Save Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body ExposureBelal, Sophie; Goudenege, David; Bocca, Cinzia; Dumont, Florent; De La Barca, Juan Manuel Chao; Desquiret-Dumas, Valerie; Gueguen, Naig; Geffroy, Guillaume; Benyahia, Rayane; Kane, Selma; Khiati, Salim; Bris, Celine; Aranyi, Tamas; Stockholm, Daniel; Inisan, Aurore; Renaud, Aurelie; Barth, Magalie; Simard, Gilles; Reynier, Pascal; Letournel, Franck; Lenaers, Guy; Bonneau, Dominique; Chevrollier, Arnaud; Procaccio, Vincent Share Save Cancer/Testis Antigen 55 is required for cancer cell proliferation and mitochondrial DNA maintenanceAurriere, Jade; Goudenege, David; Baechler, Simone A.; Huang, Shar-Yin N.; Gueguen, Naig; Desquiret-Dumas, Valerie; Chabrun, Floris; Perrot, Rodolphe; Chevrollier, Arnaud; Charif, Majida; Baris, Olivier R.; Pommier, Yves; Lenaers, Guy; Khiati, Salim Share Save Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesZech, Michael; Kopajtich, Robert; Steinbruecker, Katja; Bris, Celine; Gueguen, Naig; Feichtinger, Rene G.; Achleitner, Melanie T.; Duzkale, Neslihan; Perivier, Maximilien; Koch, Johannes; Engelhardt, Harald; Freisinger, Peter; Wagner, Matias; Brunet, Theresa; Berutti, Riccardo; Smirnov, Dmitrii; Navaratnarajah, Tharsini; Rodenburg, Richard J. T.; Pais, Lynn S.; Austin-Tse, Christina; O'Leary, Melanie; Boesch, Sylvia; Jech, Robert; Bakhtiari, Somayeh; Jin, Sheng Chih; Wilbert, Friederike; Kruer, Michael C.; Wortmann, Saskia B.; Eckenweiler, Matthias; Mayr, Johannes A.; Distelmaier, Felix; Steinfeld, Robert; Winkelmann, Juliane; Prokisch, Holger Share Save Acetoacetate protects macrophages from lactic acidosis-induced mitochondrial dysfunction by metabolic reprogramingAdam, Clement; Paolini, Lea; Gueguen, Naig; Mabilleau, Guillaume; Preisser, Laurence; Blanchard, Simon; Pignon, Pascale; Manero, Florence; Le Mao, Morgane; Morel, Alain; Reynier, Pascal; Beauvillain, Celine; Delneste, Yves; Procaccio, Vincent; Jeannin, Pascale Share Save The Long Non-Coding RNA SAMMSON Is a Regulator of Chemosensitivity and Metabolic Orientation in MCF-7 Doxorubicin-Resistant Breast Cancer CellsOrre, Charlotte; Dieu, Xavier; Guillon, Jordan; Gueguen, Naig; Ahmadpour, Seyedeh Tayebeh; Dumas, Jean-Francois; Khiati, Salim; Reynier, Pascal; Lenaers, Guy; Coqueret, Olivier; Chevrollier, Arnaud; Mirebeau-Prunier, Delphine; Desquiret-Dumas, Valerie Share Save Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disordersBris, Celine; Goudenege, David; Desquiret-Dumas, Valerie; Gueguen, Naig; Bannwarth, Sylvie; Gaignard, Pauline; Rucheton, Benoit; Trimouille, Aurelien; Allouche, Stephane; Rouzier, Cecile; Saadi, Samira; Jardel, Claude; Slama, Abdel; Barth, Magalie; Verny, Christophe; Spinazzi, Marco; Cassereau, Julien; Colin, Estelle; Armelle, Magot; Pereon, Yann; Martin-Negrier, Marie Laure; Paquis-Flucklinger, Veronique; Letournel, Franck; Lenaers, Guy; Bonneau, Dominique; Reynier, Pascal; Amati-Bonneau, Patrizia; Procaccio, Vincent Share Save Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?Gueguen, Naig; Piarroux, Julie; Sarzi, Emmanuelle; Benkirane, Mehdi; Manes, Gael; Delettre, Cecile; Amedro, Pascal; Leboucq, Nicolas; Koenig, Michel; Meyer, Pierre; Meunier, Isabelle; Reynier, Pascal; Lenaers, Guy; Roubertie, Agathe Share Save Dominant ACO2 mutations are a frequent cause of isolated optic atrophyCharif, Majida; Gueguen, Naig; Ferre, Marc; Elkarhat, Zouhair; Khiati, Salim; LeMao, Morgane; Chevrollier, Arnaud; Desquiret-Dumas, Valerie; Goudenege, David; Bris, Celine; Kane, Selma; Alban, Jennifer; Chupin, Stephanie; Wetterwald, Celine; 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 Share Save 
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