Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity von Planas-Serra, Laura, Launay, Nathalie, Goicoechea, Leire, Heron, Bénédicte, Jou, Cristina, Juliá-Palacios, Natalia, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, De La Torre, Carolina, Gelot, Antoinette, Marsal, Maria, Loza-Alvarez, Pablo, García-Cazorla, Àngels, Fatemi, Ali, Ferrer, Isidre, Portero-Otin, Manel, Area-Gómez, Estela, Pujol, Aurora

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RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia von Launay, Nathalie, Ruiz, Montserrat, Planas-Serra, Laura, Verdura, Edgard, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Goicoechea, Leire, Guilera, Cristina, Casas, Josefina, Campelo, Felix, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Boespflug-Tanguy, Odile, Vazquez Cancela, Maria, Gutiérrez-Solana, Luis González, Casasnovas, Carlos, Area-Gomez, Estela, Pujol, Aurora

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Prospective Comparison Between Shotgun Metagenomics and Sanger Sequencing of the 16S rRNA Gene for the Etiological Diagnosis of Infections von Lamoureux, Claudie, Surgers, Laure, Fihman, Vincent, Gricourt, Guillaume, Demontant, Vanessa, Trawinski, Elisabeth, N'Debi, Melissa, Gomart, Camille, Royer, Guilhem, Launay, Nathalie, Le Glaunec, Jeanne-Marie, Wemmert, Charlotte, La Martire, Giulia, Rossi, Geoffrey, Lepeule, Raphaël, Pawlotsky, Jean-Michel, Rodriguez, Christophe, Woerther, Paul-Louis

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Aberrant regulation of the GSK‐3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy von Ranea‐Robles, Pablo, Launay, Nathalie, Ruiz, Montserrat, Calingasan, Noel Ylagan, Dumont, Magali, Naudí, Alba, Portero‐Otín, Manuel, Pamplona, Reinald, Ferrer, Isidre, Beal, M Flint, Fourcade, Stéphane, Pujol, Aurora

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Value of 18-F-FDG PET/CT and CT in the Diagnosis of Indeterminate Adrenal Masses von Legmann, Paul, Bertagna, Xavier, Vignaux, Olivier, Audureau, Etienne, Tissier, Frédérique, Groussin, Lionel, Tenenbaum, Florence, Silvera, Stéphane, Launay, Nathalie, Dousset, Bertrand

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Rapid detection of Pseudomonas aeruginosa from positive blood cultures by quantitative PCR von Cattoir, Vincent, Gilibert, Audrey, Le Glaunec, Jeanne-Marie, Launay, Nathalie, Bait-Mérabet, Lilia, Legrand, Patrick

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Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy von Launay, Nathalie, Lopez-Erauskin, Jone, Bianchi, Patrizia, Guha, Sanjib, Parameswaran, Janani, Coppa, Andrea, Torreni, Lorenzo, Schlüter, Agatha, Fourcade, Stéphane, Paredes-Fuentes, Abraham J, Artuch, Rafael, Casasnovas, Carlos, Ruiz, Montserrat, Pujol, Aurora

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Synthesis of bowl-shaped dendrimers from generation 1 to generation 8 von Launay, Nathalie, Caminade, Anne-Marie, Majoral, Jean Pierre

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Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: A paradigm for multifactorial neurodegenerative diseases? von Galea, Elena, Launay, Nathalie, Portero-Otin, Manuel, Ruiz, Montserrat, Pamplona, Reinald, Aubourg, Patrick, Ferrer, Isidre, Pujol, Aurora

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Methylene blue upregulates Nrf2/ARE genes and prevents tau-related neurotoxicity von Stack, Cliona, Jainuddin, Shari, Elipenahli, Ceyhan, Gerges, Meri, Starkova, Natalia, Starkov, Anatoly A, Jové, Mariona, Portero-Otin, Manuel, Launay, Nathalie, Pujol, Aurora, Kaidery, Navneet Ammal, Thomas, Bobby, Tampellini, Davide, Beal, M Flint, Dumont, Magali

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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization von Schlüter, Agatha, Rodríguez-Palmero, Agustí, Verdura, Edgard, Vélez-Santamaría, Valentina, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Martínez, Juan José, Guilera, Cristina, Girós, Marisa, Artuch, Rafael, Yoldi, María Eugenia, O'Callaghan, Mar, García-Cazorla, Angels, Armstrong, Judith, Marti, Itxaso, Mondragón Rezola, Elisabet, Redin, Claire, Mandel, Jean Louis, Conejo, David, Sierra-Córcoles, Concepción, Beltrán, Sergi, Gut, Marta, Vázquez, Elida, Del Toro, Mireia, Troncoso, Mónica, Pérez-Jurado, Luis A, Gutiérrez-Solana, Luis G, López de Munain, Adolfo, Casasnovas, Carlos, Aguilera-Albesa, Sergio, Macaya, Alfons, Pujol, Aurora

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Serine 59 Phosphorylation of αB-Crystallin Down-regulates Its Anti-apoptotic Function by Binding and Sequestering Bcl-2 in Breast Cancer Cells von Launay, Nathalie, Tarze, Agathe, Vicart, Patrick, Lilienbaum, Alain

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Beneficial Effects of High-dose Biotin (MD1003) in Models of X-linked adrenoleukodystrophy (P1.2-084) von Fourcade, Stéphane, Parameswaran, Janani, Goicoechea, Leire, Launay, Nathalie, Ruiz, Montserrat, Sedel, Frédéric, Pujol, Aurora

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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy von Pant, Devesh C, Dorboz, Imen, Schluter, Agatha, Fourcade, Stéphane, Launay, Nathalie, Joya, Javier, Aguilera-Albesa, Sergio, Yoldi, Maria Eugenia, Casasnovas, Carlos, Willis, Mary J, Ruiz, Montserrat, Ville, Dorothée, Lesca, Gaetan, Siquier-Pernet, Karine, Desguerre, Isabelle, Yan, Huifang, Wang, Jingmin, Burmeister, Margit, Brady, Lauren, Tarnopolsky, Mark, Cornet, Carles, Rubbini, Davide, Terriente, Javier, James, Kiely N, Musaev, Damir, Zaki, Maha S, Patterson, Marc C, Lanpher, Brendan C, Klee, Eric W, Pinto E Vairo, Filippo, Wohler, Elizabeth, Sobreira, Nara Lygia de M, Cohen, Julie S, Maroofian, Reza, Galehdari, Hamid, Mazaheri, Neda, Shariati, Gholamreza, Colleaux, Laurence, Rodriguez, Diana, Gleeson, Joseph G, Pujades, Cristina, Fatemi, Ali, Boespflug-Tanguy, Odile, Pujol, Aurora

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Cell signaling pathways to αB-crystallin following stresses of the cytoskeleton von Launay, Nathalie, Goudeau, Bertrand, Kato, Kanefusa, Vicart, Patrick, Lilienbaum, Alain

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Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia von Launay, Nathalie, Espinosa-Alcantud, Maria, Verdura, Edgard, Fernández-Eulate, Gorka, Ondaro, Jon, Iruzubieta, Pablo, Marsal, Maria, Schlüter, Agatha, Ruiz, Montserrat, Fourcade, Stephane, Rodríguez-Palmero, Agustí, Zulaica, Miren, Sistiaga, Andone, Labayru, Garazi, Loza-Alvarez, Pablo, Vaquero, Alejandro, Lopez de Munain, Adolfo, Pujol, Aurora

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Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy von Launay, Nathalie, Ruiz, Montserrat, Grau, Laia, Ortega, Francisco J., Ilieva, Ekaterina V., Martínez, Juan José, Galea, Elena, Ferrer, Isidre, Knecht, Erwin, Pujol, Aurora, Fourcade, Stéphane

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Oxidative stress regulates the ubiquitin―proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy von LAUNAY, Nathalie, RUIZ, Montserrat, FOURCADE, Stéphane, SCHLÜTER, Agatha, GUILERA, Cristina, FERRER, Isidre, KNECHT, Erwin, PUJOL, Aurora

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High‐dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy von Fourcade, Stéphane, Goicoechea, Leire, Parameswaran, Janani, Schlüter, Agatha, Launay, Nathalie, Ruiz, Montserrat, Seyer, Alexandre, Colsch, Benoit, Calingasan, Noel Ylagan, Ferrer, Isidre, Beal, M. Flint, Sedel, Frédéric, Pujol, Aurora

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PGC‐1α: overexpression exacerbates β‐amyloid and tau deposition in a transgenic mouse model of Alzheimer's disease von Dumont, Magali, Stack, Cliona, Elipenahli, Ceyhan, Jainuddin, Shari, Launay, Nathalie, Gerges, Meri, Starkova, Natalia, Starkov, Anatoly A., Calingasan, Noel Y., Tampellini, Davide, Pujol, Aurora, Beal, M. Flint

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