ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome von Angebault Claire, Fauconnier Jérémy, Patergnani Simone, Rieusset, Jennifer, Danese, Alberto, Affortit, Corentin A, Jagodzinska Jolanta, Mégy Camille, Quiles Mélanie, Cazevieille Chantal, Korchagina Julia, Bonnet-Wersinger Delphine, Milea, Dan, Hamel, Christian, Pinton Paolo, Thiry, Marc, Lacampagne Alain, Delprat Benjamin, Delettre Cécile

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Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission von Gerber, Sylvie, Charif, Majida, Chevrollier, Arnaud, Chaumette, Tanguy, Angebault, Claire, Kane, Mariame 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, Meunier, Isabelle, Sesaki, Hiromi, Kaplan, Josseline, Hamel, Christian P, Rozet, Jean-Michel, Lenaers, Guy

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ER-mitochondria cross-talk is regulated by the Ca(2+) sensor NCS1 and is impaired in Wolfram syndrome von Angebault, Claire, Fauconnier, Jeremy, Patergnani, Simone, Rieusset, Jennifer, Danese, Alberto, Affortit, Corentin A., Jagodzinska, Jolanta, Megy, Camille, Quiles, Melanie, Cazevieille, Chantal, Korchagina, Julia, Bonnet-Wersinger, Delphine, Milea, Dan, Hamel, Christian, Pinton, Paolo, Thiry, Marc, Lacampagne, Alain, Delprat, Benjamin, Delettre, Cecile

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OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution von Elachouri, Ghizlane, Vidoni, Sara, Zanna, Claudia, Pattyn, Alexandre, Boukhaddaoui, Hassan, Gaget, Karen, Yu-Wai-Man, Patrick, Gasparre, Giuseppe, Sarzi, Emmanuelle, Delettre, Cécile, Olichon, Aurélien, Loiseau, Dominique, Reynier, Pascal, Chinnery, Patrick F, Rotig, Agnès, Carelli, Valerio, Hamel, Christian P, Rugolo, Michela, Lenaers, Guy

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WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity von Grenier, Joanna, MD, Meunier, Isabelle, MD, PhD, Daien, Vincent, MD, PhD, Baudoin, Corinne, BS, Halloy, François, MS, Bocquet, Béatrice, PhD, Blanchet, Catherine, MD, Delettre, Cécile, PhD, Esmenjaud, Etienne, MD, Roubertie, Agathe, MD, PhD, Lenaers, Guy, PhD, Hamel, Christian P., MD, PhD

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Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy von Piro-Megy, Camille, Sarzi, Emmanuelle, Tarres-Sole, Aleix, Pequignot, Marie, Hensen, Fenna, Quiles, Melanie, Manes, Gael, Chakraborty, Arka, Senechal, Audrey, Bocquet, Beatrice, Cazevieille, Chantal, Roubertie, Agathe, Muller, Agnes, Charif, Majida, Goudenege, David, Lenaers, Guy, Wilhelm, Helmut, Kellner, Ulrich, Weisschuh, Nicole, Wissinger, Bernd, Zanlonghi, Xavier, Hamel, Christian, Spelbrink, Johannes N., Sola, Maria, Delettre, Cecile

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Inherited mitochondrial dysfunction triggered by OPA1 mutation impacts the sensory innervation fibre identity, functionality and regenerative potential in the cornea von Meneux, Léna, Feret, Nadège, Pernot, Sarah, Girard, Mélissa, Sarkis, Solange, Caballero Megido, Alicia, Quiles, Melanie, Müller, Agnès, Fichter, Laura, Vialaret, Jerome, Hirtz, Christophe, Delettre, Cecile, Michon, Frederic

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Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies von Angebault, Claire, Guichet, Pierre-Olivier, Talmat-Amar, Yasmina, Charif, Majida, Gerber, Sylvie, Fares-Taie, Lucas, Gueguen, Naig, Halloy, François, Moore, David, Amati-Bonneau, Patrizia, Manes, Gael, Hebrard, Maxime, Bocquet, Béatrice, Quiles, Mélanie, Piro-Mégy, Camille, Teigell, Marisa, Delettre, Cécile, Rossel, Mireille, Meunier, Isabelle, Preising, Markus, Lorenz, Birgit, Carelli, Valerio, Chinnery, Patrick F., Yu-Wai-Man, Patrick, Kaplan, Josseline, Roubertie, Agathe, Barakat, Abdelhamid, Bonneau, Dominique, Reynier, Pascal, Rozet, Jean-Michel, Bomont, Pascale, Hamel, Christian P., Lenaers, Guy

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OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model von Sarzi, Emmanuelle, Seveno, Marie, Piro-Mégy, Camille, Elzière, Lucie, Quilès, Mélanie, Péquignot, Marie, Müller, Agnès, Hamel, Christian P., Lenaers, Guy, Delettre, Cécile

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Mitochondrial Complex I activity signals antioxidant response through ERK5 von Khan, Abrar Ul Haq, Allende-Vega, Nerea, Gitenay, Delphine, Garaude, Johan, Vo, Dang-Nghiem, Belkhala, Sana, Gerbal-Chaloin, Sabine, Gondeau, Claire, Daujat-Chavanieu, Martine, Delettre, Cécile, Orecchioni, Stefania, Talarico, Giovanna, Bertolini, Francesco, Anel, Alberto, Cuezva, José M., Enriquez, Jose A., Cartron, Guillaume, Lecellier, Charles-Henri, Hernandez, Javier, Villalba, Martin

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Nuclear gene OPA1 , encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy von Lorenzo, Corinne, Hamel, Christian P, Griffoin, Jean-Michel, Turc-Carel, Claude, Delettre, Cécile, Lenaers, Guy, Kaplan, Josseline, Lasquellec, Laetitia, Belenguer, Pascale, Astarie-Dequeker, Catherine, Gigarel, Nadine, Grosgeorge, Josiane, Arnaud, Bernard, Pelloquin, Laetitia, Ducommun, Bernard, Perret, Eric

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Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder? von Gueguen, Naig, Piarroux, Julie, Sarzi, Emmanuelle, Benkirane, Mehdi, Manes, Gael, Delettre, Cécile, Amedro, Pascal, Leboucq, Nicolas, Koenig, Michel, Meyer, Pierre, Meunier, Isabelle, Reynier, Pascal, Lenaers, Guy, Roubertie, Agathe

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Wolfram syndrome: MAMs’ connection? von Delprat, Benjamin, Maurice, Tangui, Delettre, Cécile

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AAV2/9-mediated gene transfer into murine lacrimal gland leads to a long-term targeted tear film modification von Gautier, Benoit, Meneux, Léna, Feret, Nadège, Audrain, Christine, Hudecek, Laetitia, Kuony, Alison, Bourdon, Audrey, Le Guiner, Caroline, Blouin, Véronique, Delettre, Cécile, Michon, Frédéric

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The human OPA1(delTTAG) mutation induces premature age-related systemic neurodegeneration in mouse von Sarzi, Emmanuelle, Angebault, Claire, Seveno, Marie, Gueguen, Naïg, Chaix, Benjamin, Bielicki, Guy, Boddaert, Nathalie, Mausset-Bonnefont, Anne-Laure, Cazevieille, Chantal, Rigau, Valérie, Renou, Jean-Pierre, Wang, Jing, Delettre, Cécile, Brabet, Philippe, Puel, Jean-Luc, Hamel, Christian P., Reynier, Pascal, Lenaers, Guy

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Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis von Olichon, Aurélien, Landes, Thomas, Arnauné-Pelloquin, Laetitia, Emorine, Laurent J., Mils, Valérie, Guichet, Agnès, Delettre, Cécile, Hamel, Christian, Amati-Bonneau, Patrizia, Bonneau, Dominique, Reynier, Pascal, Lenaers, Guy, Belenguer, Pascale

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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management von Tranebjærg, Lisbeth, Strenzke, Nicola, Lindholm, Sture, Rendtorff, Nanna D., Poulsen, Hanne, Khandelia, Himanshu, Kopec, Wojciech, Lyngbye, Troels J. Brünnich, Hamel, Christian, Delettre, Cecile, Bocquet, Beatrice, Bille, Michael, Owen, Hanne H., Bek, Toke, Jensen, Hanne, Østergaard, Karen, Möller, Claes, Luxon, Linda, Carr, Lucinda, Wilson, Louise, Rajput, Kaukab, Sirimanna, Tony, Harrop-Griffiths, Katherine, Rahman, Shamima, Vona, Barbara, Doll, Julia, Haaf, Thomas, Bartsch, Oliver, Rosewich, Hendrik, Moser, Tobias, Bitner-Glindzicz, Maria

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A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network von Grau, Tanja, Burbulla, Lena F, Engl, Gertraud, Delettre, Cécile, Delprat, Benjamin, Oexle, Konrad, Leo-Kottler, Beate, Roscioli, Tony, Krüger, Rejko, Rapaport, Doron, Wissinger, Bernd, Schimpf-Linzenbold, Simone

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Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy von Sarzi, Emmanuelle, Seveno, Marie, Angebault, Claire, Milea, Dan, Rönnbäck, Cecilia, Quilès, Melanie, Adrian, Mathias, Grenier, Joanna, Caignard, Angélique, Lacroux, Annie, Lavergne, Christian, Reynier, Pascal, Larsen, Michael, Hamel, Christian P, Lenaers, Guy, Müller, Agnès

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Mitochondrial dynamics and disease, OPA1 von Olichon, Aurélien, Guillou, Emmanuelle, Delettre, Cécile, Landes, Thomas, Arnauné-Pelloquin, Laetitia, Emorine, Laurent J., Mils, Valérie, Daloyau, Marlène, Hamel, Christian, Amati-Bonneau, Patrizia, Bonneau, Dominique, Reynier, Pascal, Lenaers, Guy, Belenguer, Pascale

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