Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission
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
Published in Brain (London, England : 1878) (01.10.2017)
Published in Brain (London, England : 1878) (01.10.2017)
Get full text
Journal Article
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution
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
Published in Genome research (01.01.2011)
Published in Genome research (01.01.2011)
Get full text
Journal Article
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity
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
Published in Ophthalmology (Rochester, Minn.) (01.09.2016)
Published in Ophthalmology (Rochester, Minn.) (01.09.2016)
Get full text
Journal Article
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
Piro-Mégy, Camille, Sarzi, Emmanuelle, Tarrés-Solé, Aleix, Péquignot, Marie, Hensen, Fenna, Quilès, Mélanie, Manes, Gaël, Chakraborty, Arka, Sénéchal, Audrey, Bocquet, Béatrice, Cazevieille, Chantal, Roubertie, Agathe, Müller, Agnès, Charif, Majida, Goudenège, David, Lenaers, Guy, Wilhelm, Helmut, Kellner, Ulrich, Weisschuh, Nicole, Wissinger, Bernd, Zanlonghi, Xavier, Hamel, Christian, Spelbrink, Johannes N, Sola, Maria, Delettre, Cécile
Published in The Journal of clinical investigation (01.01.2020)
Published in The Journal of clinical investigation (01.01.2020)
Get full text
Journal Article
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
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
Published in American journal of human genetics (05.11.2015)
Published in American journal of human genetics (05.11.2015)
Get full text
Journal Article
Inherited mitochondrial dysfunction triggered by OPA1 mutation impacts the sensory innervation fibre identity, functionality and regenerative potential in the cornea
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
Published in Scientific reports (13.08.2024)
Published in Scientific reports (13.08.2024)
Get full text
Journal Article
OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model
Sarzi, Emmanuelle, Seveno, Marie, Piro-Mégy, Camille, Elzière, Lucie, Quilès, Mélanie, Péquignot, Marie, Müller, Agnès, Hamel, Christian P., Lenaers, Guy, Delettre, Cécile
Published in Scientific reports (06.02.2018)
Published in Scientific reports (06.02.2018)
Get full text
Journal Article
Mitochondrial Complex I activity signals antioxidant response through ERK5
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
Published in Scientific reports (09.05.2018)
Published in Scientific reports (09.05.2018)
Get full text
Journal Article
Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?
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
Published in Mitochondrion (01.07.2021)
Published in Mitochondrion (01.07.2021)
Get full text
Journal Article
The human OPA1(delTTAG) mutation induces premature age-related systemic neurodegeneration in mouse
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
Published in Brain (London, England : 1878) (2012)
Published in Brain (London, England : 1878) (2012)
Get full text
Journal Article
AAV2/9-mediated gene transfer into murine lacrimal gland leads to a long-term targeted tear film modification
Gautier, Benoit, Meneux, Léna, Feret, Nadège, Audrain, Christine, Hudecek, Laetitia, Kuony, Alison, Bourdon, Audrey, Le Guiner, Caroline, Blouin, Véronique, Delettre, Cécile, Michon, Frédéric
Published in Molecular therapy. Methods & clinical development (08.12.2022)
Published in Molecular therapy. Methods & clinical development (08.12.2022)
Get full text
Journal Article
Nuclear gene OPA1 , encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
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
Published in Nature genetics (01.10.2000)
Published in Nature genetics (01.10.2000)
Get full text
Journal Article
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis
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
Published in Journal of cellular physiology (01.05.2007)
Published in Journal of cellular physiology (01.05.2007)
Get full text
Journal Article
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
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
Published in Human genetics (01.02.2018)
Published in Human genetics (01.02.2018)
Get full text
Journal Article
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network
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
Published in Journal of medical genetics (01.12.2013)
Published in Journal of medical genetics (01.12.2013)
Get full text
Journal Article
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy
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
Published in Human molecular genetics (15.06.2016)
Published in Human molecular genetics (15.06.2016)
Get full text
Journal Article
Mitochondrial dynamics and disease, OPA1
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
Published in Biochimica et biophysica acta (01.05.2006)
Published in Biochimica et biophysica acta (01.05.2006)
Get full text
Journal Article
Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
Jagodzinska, Jolanta, Sarzi, Emmanuelle, Cavalier, Mélanie, Seveno, Marie, Baecker, Volker, Hamel, Christian, Péquignot, Marie, Delettre, Cecile
Published in Journal of visualized experiments (22.09.2017)
Published in Journal of visualized experiments (22.09.2017)
Get full text
Journal Article
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy
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, Delettre, Cécile, Lenaers, Guy, Müller, Agnès
Published in Human molecular genetics (01.12.2017)
Published in Human molecular genetics (01.12.2017)
Get full text
Journal Article
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations
Roubertie, Agathe, Charif, Majida, Meyer, Pierre, Manes, Gael, Meunier, Isabelle, Taieb, Guillaume, Junta Morales, Raul, Guichet, Agnès, Delettre, Cecile, Sarzi, Emmanuelle, Leboucq, Nicolas, Rivier, François, Lenaers, Guy
Published in Annals of clinical and translational neurology (01.08.2019)
Published in Annals of clinical and translational neurology (01.08.2019)
Get full text
Journal Article