SIRT2 in age-related neurodegenerative disorders

por Fourcade, Stéphane, Outeiro, Tiago F., Pujol, Aurora
Publicado 2018

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

por Verdura, Edgard, Fons, Carme, Schlüter, Agatha, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, Castellano, Antonio, Pujol, Aurora
Publicado 2020

Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation

por Schlüter, Agatha, Sandoval, Juan, Fourcade, Stéphane, Díaz‐Lagares, Angel, Ruiz, Montserrat, Casaccia, Patrizia, Esteller, Manel, Pujol, Aurora
Publicado 2018

Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy

por López-Erauskin, Jone, Galino, Jorge, Bianchi, Patrizia, Fourcade, Stéphane, Andreu, Antoni L., Ferrer, Isidre, Muñoz-Pinedo, Cristina, Pujol, Aurora
Publicado 2012

Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy

por Launay, Nathalie, Aguado, Carmen, Fourcade, Stéphane, Ruiz, Montserrat, Grau, Laia, Riera, Jordi, Guilera, Cristina, Giròs, Marisa, Ferrer, Isidre, Knecht, Erwin, Pujol, Aurora
Publicado 2014

PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease

por Schlüter, Agatha, Fourcade, Stéphane, Domènech-Estévez, Enric, Gabaldón, Toni, Huerta-Cepas, Jaime, Berthommier, Guillaume, Ripp, Raymond, Wanders, Ronald J. A., Poch, Olivier, Pujol, Aurora
Publicado 2007

Antioxidants Halt Axonal Degeneration in a Mouse Model of X-Adrenoleukodystrophy

por López-Erauskin, Jone, Fourcade, Stéphane, Galino, Jorge, Ruiz, Montserrat, Schlüter, Agatha, Naudi, Alba, Jove, Mariona, Portero-Otin, Manuel, Pamplona, Reinald, Ferrer, Isidre, Pujol, Aurora
Publicado 2011

Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy

por 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
Publicado 2016

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

por Verdura, Edgard, Schlüter, Agatha, Fernández‐Eulate, Gorka, Ramos‐Martín, Raquel, Zulaica, Miren, Planas‐Serra, Laura, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, López de Munain, Adolfo, Pujol, Aurora
Publicado 2019

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

por Rodríguez‐Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Ruiz, Montserrat, Martínez, Juan José, Gourlaouen, Isabelle, Ka, Chandran, Lobato, Ricardo, Casasnovas, Carlos, Le Gac, Gérald, Fourcade, Stéphane, Pujol, Aurora
Publicado 2020

Aberrant regulation of the GSK‐3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy

por 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
Publicado 2018

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation

por Engelen, Marc, Schackmann, Martin J. A., Ofman, Rob, Sanders, Robert-Jan, Dijkstra, Inge M. E., Houten, Sander M., Fourcade, Stéphane, Pujol, Aurora, Poll-The, Bwee Tien, Wanders, Ronald J. A., Kemp, Stephan
Publicado 2012

Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor

por Szczesna, Karolina, de la Caridad, Olga, Petazzi, Paolo, Soler, Marta, Roa, Laura, Saez, Mauricio A, Fourcade, Stéphane, Pujol, Aurora, Artuch-Iriberri, Rafael, Molero-Luis, Marta, Vidal, August, Huertas, Dori, Esteller, Manel
Publicado 2014

Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy

por Schlüter, Agatha, Espinosa, Lluís, Fourcade, Stéphane, Galino, Jorge, López, Eva, Ilieva, Ekaterina, Morató, Laia, Asheuer, Muriel, Cook, Ted, McLaren, Alistair, Reid, Juliet, Kelly, Fiona, Bates, Stewart, Aubourg, Patrick, Galea, Elena, Pujol, Aurora
Publicado 2012

Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance

por Fourcade, Stéphane, Morató, Laia, Parameswaran, Janani, Ruiz, Montserrat, Ruiz‐Cortés, Tatiana, Jové, Mariona, Naudí, Alba, Martínez‐Redondo, Paloma, Dierssen, Mara, Ferrer, Isidre, Villarroya, Francesc, Pamplona, Reinald, Vaquero, Alejandro, Portero‐Otín, Manel, Pujol, Aurora
Publicado 2017

The Value of Mouse Models of Rare Diseases: A Spanish Experience

por Murillo-Cuesta, Silvia, Artuch, Rafael, Asensio, Fernando, de la Villa, Pedro, Dierssen, Mara, Enríquez, Jose Antonio, Fillat, Cristina, Fourcade, Stéphane, Ibáñez, Borja, Montoliu, Lluis, Oliver, Eduardo, Pujol, Aurora, Salido, Eduardo, Vallejo, Mario, Varela-Nieto, Isabel
Publicado 2020

Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator

por 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
Publicado 2005

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

por 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
Publicado 2019

Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus‐Merzbacher disease

por Ruiz, Montserrat, Bégou, Mélina, Launay, Nathalie, Ranea‐Robles, Pablo, Bianchi, Patrizia, López‐Erauskin, Jone, Morató, Laia, Guilera, Cristina, Petit, Bérengère, Vaurs‐Barriere, Catherine, Guéret‐Gonthier, Céline, Bonnet‐Dupeyron, Marie‐Noëlle, Fourcade, Stéphane, Auwerx, Johan, Boespflug‐Tanguy, Odile, Pujol, Aurora
Publicado 2017

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

por 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
Publicado 2023