Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
García-Cazorla, Àngels, Verdura, Edgard, Juliá-Palacios, Natalia, Anderson, Eric N., Goicoechea, Leire, Planas-Serra, Laura, Tsogtbaatar, Enkhtuul, Dsouza, Nikita R., Schlüter, Agatha, Urreizti, Roser, Tarnowski, Jessica M., Gavrilova, Ralitza H., Ruiz, Montserrat, Rodríguez-Palmero, Agustí, Fourcade, Stéphane, Cogné, Benjamin, Besnard, Thomas, Vincent, Marie, Bézieau, Stéphane, Folmes, Clifford D., Zimmermann, Michael T., Klee, Eric W., Pandey, Udai Bhan, Artuch, Rafael, Cousin, Margot A., Pujol, Aurora
Published in Acta neuropathologica (01.12.2020)
Published in Acta neuropathologica (01.12.2020)
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Journal Article
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
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
Published in The Journal of clinical investigation (01.03.2019)
Published in The Journal of clinical investigation (01.03.2019)
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Journal Article
Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy
Galino, Jorge, Ruiz, Montserrat, Fourcade, Stéphane, Schlüter, Agatha, López-Erauskin, Jone, Guilera, Cristina, Jove, Mariona, Naudi, Alba, García-Arumí, Elena, Andreu, Antoni L, Starkov, Anatoly A, Pamplona, Reinald, Ferrer, Isidre, Portero-Otin, Manuel, Pujol, Aurora
Published in Antioxidants & redox signaling (15.10.2011)
Published in Antioxidants & redox signaling (15.10.2011)
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Journal Article
Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice
Jorge-Torres, Olga C., Szczesna, Karolina, Roa, Laura, Casal, Carme, Gonzalez-Somermeyer, Louisa, Soler, Marta, Velasco, Cecilia D., Martínez-San Segundo, Pablo, Petazzi, Paolo, Sáez, Mauricio A., Delgado-Morales, Raúl, Fourcade, Stephane, Pujol, Aurora, Huertas, Dori, Llobet, Artur, Guil, Sonia, Esteller, Manel
Published in Cell reports (Cambridge) (08.05.2018)
Published in Cell reports (Cambridge) (08.05.2018)
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Journal Article
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Schlüter, Agatha, Vélez-Santamaría, Valentina, Verdura, Edgard, Rodríguez-Palmero, Agustí, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martínez, Juan José, Homedes-Pedret, Christian, Albertí-Aguiló, M. Antonia, Zulaika, Miren, Martí, Itxaso, Troncoso, Mónica, Tomás-Vila, Miguel, Bullich, Gemma, García-Pérez, M. Asunción, Sobrido-Gómez, María-Jesús, López-Laso, Eduardo, Fons, Carme, Del Toro, Mireia, Macaya, Alfons, García-Cazorla, Àngels, Ortiz-Martínez, Antonio José, Ignacio-Ortez, Carlos, Cáceres-Marzal, Cristina, Martínez-Salcedo, Eduardo, Mondragón, Elisabet, Barredo, Estíbaliz, Airaldi, Ileana Antón, Martínez, Javier Ruiz, Ramos, Joaquin A. Fernández, Vázquez, Juan Francisco, Díez-Porras, Laura, Vázquez-Cancela, María, O’Callaghan, Mar, Sánchez, Tamara Pablo, Nedkova, Velina, Pérez, Ana Isabel Maraña, Beltran, Sergi, Gutiérrez-Solana, Luis G., Pérez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo López, Casasnovas, Carlos, Pujol, Aurora
Published in Genome medicine (07.09.2023)
Published in Genome medicine (07.09.2023)
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Journal Article
Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator
Gondcaille, Catherine, Depreter, Marianne, Fourcade, Stéphane, Lecca, Maria Rita, Leclercq, Sabrina, Martin, Pascal G.P, Pineau, Thierry, Cadepond, Françoise, ElEtr, Martine, Bertrand, Nathalie, Beley, Alain, Duclos, Sandrine, De Craemer, Dirk, Roels, Frank, Savary, Stéphane, Bugaut, Maurice
Published in The Journal of cell biology (11.04.2005)
Published in The Journal of cell biology (11.04.2005)
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Journal Article
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
Verdura, Edgard, Fons, Carme, Schlüter, Agatha, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, Castellano, Antonio, Pujol, Aurora
Published in Journal of medical genetics (01.02.2020)
Published in Journal of medical genetics (01.02.2020)
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Journal Article
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
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
Published in The Journal of clinical investigation (15.05.2023)
Published in The Journal of clinical investigation (15.05.2023)
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Journal Article
Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy
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
Published in Brain (London, England : 1878) (03.06.2024)
Published in Brain (London, England : 1878) (03.06.2024)
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Journal Article
Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy
López-Erauskin, Jone, Fourcade, Stéphane, Galino, Jorge, Ruiz, Montserrat, Schlüter, Agatha, Naudi, Alba, Jove, Mariona, Portero-Otin, Manuel, Pamplona, Reinald, Ferrer, Isidre, Pujol, Aurora
Published in Annals of neurology (01.07.2011)
Published in Annals of neurology (01.07.2011)
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Journal Article
Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study
Casasnovas, Carlos, Ruiz, Montserrat, Schlüter, Agatha, Naudí, Alba, Fourcade, Stéphane, Veciana, Misericordia, Castañer, Sara, Albertí, Antonia, Bargalló, Nuria, Johnson, Maria, Raymond, Gerald V., Fatemi, Ali, Moser, Ann B., Villarroya, Francesc, Portero-Otín, Manuel, Artuch, Rafael, Pamplona, Reinald, Pujol, Aurora
Published in Neurotherapeutics (01.10.2019)
Published in Neurotherapeutics (01.10.2019)
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Journal Article
Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation
Schlüter, Agatha, Sandoval, Juan, Fourcade, Stéphane, Díaz‐Lagares, Angel, Ruiz, Montserrat, Casaccia, Patrizia, Esteller, Manel, Pujol, Aurora
Published in Brain pathology (Zurich, Switzerland) (01.11.2018)
Published in Brain pathology (Zurich, Switzerland) (01.11.2018)
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Journal Article
A novel mutation in the GFAP gene expands the phenotype of Alexander disease
Casasnovas, Carlos, Verdura, Edgard, Vélez, Valentina, Schlüter, Agatha, Pons-Escoda, Albert, Homedes, Christian, Ruiz, Montserrat, Fourcade, Stéphane, Launay, Nathalie, Pujol, Aurora
Published in Journal of medical genetics (01.12.2019)
Published in Journal of medical genetics (01.12.2019)
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Journal Article
Aberrant regulation of the GSK‐3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy
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
Published in EMBO molecular medicine (01.08.2018)
Published in EMBO molecular medicine (01.08.2018)
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Journal Article
The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy
Coppa, Andrea, Guha, Sanjib, Fourcade, Stéphane, Parameswaran, Janani, Ruiz, Montserrat, Moser, Ann B., Schlüter, Agatha, Murphy, Michael P., Lizcano, Jose Miguel, Miranda-Vizuete, Antonio, Dalfó, Esther, Pujol, Aurora
Published in Free radical biology & medicine (20.05.2020)
Published in Free radical biology & medicine (20.05.2020)
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Journal Article
The evolutionary origin of peroxisomes: an ER-peroxisome connection
Schlüter, Agatha, Fourcade, Stéphane, Ripp, Raymond, Mandel, Jean Louis, Poch, Olivier, Pujol, Aurora
Published in Molecular biology and evolution (01.04.2006)
Published in Molecular biology and evolution (01.04.2006)
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Journal Article
Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy
López-Erauskin, Jone, Galino, Jorge, Bianchi, Patrizia, Fourcade, Stéphane, Andreu, Antoni L., Ferrer, Isidre, Muñoz-Pinedo, Cristina, Pujol, Aurora
Published in Brain (London, England : 1878) (01.12.2012)
Published in Brain (London, England : 1878) (01.12.2012)
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Journal Article
Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy
Parameswaran, Janani, Goicoechea, Leire, Planas-Serra, Laura, Pastor, Antoni, Ruiz, Montserrat, Calingasan, Noel Y., Guilera, Cristina, Aso, Ester, Boada, Jordi, Pamplona, Reinald, Portero-Otín, Manuel, de la Torre, Rafael, Ferrer, Isidre, Casasnovas, Carlos, Pujol, Aurora, Fourcade, Stéphane
Published in Acta neuropathologica (01.08.2022)
Published in Acta neuropathologica (01.08.2022)
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