Phylogenomic evidence for a myxococcal contribution to the mitochondrial fatty acid beta-oxidation.

by Agatha Schlüter, Iñaki Ruiz-Trillo, Aurora Pujol
Published 2011-01-01

Ceramide signalling in inherited and multifactorial brain metabolic diseases

by Devesh C. Pant, Sergio Aguilera-Albesa, Aurora Pujol
Published 2020-09-01

Histone deacetylase inhibitor upregulates peroxisomal fatty acid oxidation and inhibits apoptotic cell death in abcd1-deficient glial cells.

by Jaspreet Singh, Mushfiquddin Khan, Aurora Pujol, Mauhamad Baarine, Inderjit Singh
Published 2013-01-01

ABCD2 is abundant in adipose tissue and opposes the accumulation of dietary erucic acid (C22:1) in fat[S]

by Jingjing Liu, Nadezhda S. Sabeva, Saloni Bhatnagar, Xiang-An Li, Aurora Pujol, Gregory A. Graf
Published 2010-01-01

Case Report: Benign Infantile Seizures Temporally Associated With COVID-19

by Marcos García-Howard, Mercedes Herranz-Aguirre, Laura Moreno-Galarraga, Laura Moreno-Galarraga, María Urretavizcaya-Martínez, Josune Alegría-Echauri, Nerea Gorría-Redondo, Laura Planas-Serra, Laura Planas-Serra, Agatha Schlüter, Agatha Schlüter, Marta Gut, Marta Gut, Aurora Pujol, Aurora Pujol, Aurora Pujol, Sergio Aguilera-Albesa, Sergio Aguilera-Albesa
Published 2020-08-01

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

by Silvia Murillo-Cuesta, Silvia Murillo-Cuesta, Silvia Murillo-Cuesta, Rafael Artuch, Rafael Artuch, Fernando Asensio, Pedro de la Villa, Mara Dierssen, Mara Dierssen, Mara Dierssen, Jose Antonio Enríquez, Jose Antonio Enríquez, Cristina Fillat, Cristina Fillat, Stéphane Fourcade, Stéphane Fourcade, Borja Ibáñez, Borja Ibáñez, Borja Ibáñez, Lluis Montoliu, Lluis Montoliu, Eduardo Oliver, Eduardo Oliver, Aurora Pujol, Aurora Pujol, Aurora Pujol, Eduardo Salido, Eduardo Salido, Mario Vallejo, Mario Vallejo, Isabel Varela-Nieto, Isabel Varela-Nieto, Isabel Varela-Nieto
Published 2020-10-01

The absence of ABCD2 sensitizes mice to disruptions in lipid metabolism by dietary erucic acid[S]

by Jingjing Liu, Shuang Liang, Xiaoxi Liu, J.Andrew Brown, Kylie E. Newman, Manjula Sunkara, Andrew J. Morris, Saloni Bhatnagar, Xiangan Li, Aurora Pujol, Gregory A. Graf
Published 2012-06-01

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

by Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas, Gérald Le Gac, Stéphane Fourcade, Aurora Pujol
Published 2020-09-01

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

by Edgard Verdura, Agatha Schlüter, Gorka Fernández‐Eulate, Raquel Ramos‐Martín, Miren Zulaica, Laura Planas‐Serra, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Adolfo López de Munain, Aurora Pujol
Published 2020-01-01

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

by Pablo Ranea‐Robles, Nathalie Launay, Montserrat Ruiz, Noel Ylagan Calingasan, Magali Dumont, Alba Naudí, Manuel Portero‐Otín, Reinald Pamplona, Isidre Ferrer, M Flint Beal, Stéphane Fourcade, Aurora Pujol
Published 2018-08-01

Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice

by Olga C. Jorge-Torres, Karolina Szczesna, Laura Roa, Carme Casal, Louisa Gonzalez-Somermeyer, Marta Soler, Cecilia D. Velasco, Pablo Martínez-San Segundo, Paolo Petazzi, Mauricio A. Sáez, Raúl Delgado-Morales, Stephane Fourcade, Aurora Pujol, Dori Huertas, Artur Llobet, Sonia Guil, Manel Esteller
Published 2018-05-01

Epigenome-wide association study of COVID-19 severity with respiratory failure

by Manuel Castro de Moura, Veronica Davalos, Laura Planas-Serra, Damiana Alvarez-Errico, Carles Arribas, Montserrat Ruiz, Sergio Aguilera-Albesa, Jesús Troya, Juan Valencia-Ramos, Valentina Vélez-Santamaria, Agustí Rodríguez-Palmero, Judit Villar-Garcia, Juan P. Horcajada, Sergiu Albu, Carlos Casasnovas, Anna Rull, Laia Reverte, Beatriz Dietl, David Dalmau, Maria J. Arranz, Laia Llucià-Carol, Anna M. Planas, Jordi Pérez-Tur, Israel Fernandez-Cadenas, Paula Villares, Jair Tenorio, Roger Colobran, Andrea Martin-Nalda, Pere Soler-Palacin, Francesc Vidal, Aurora Pujol, Manel Esteller
Published 2021-04-01

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

by Margherita Baldassarri, Nicola Picchiotti, Francesca Fava, Chiara Fallerini, Elisa Benetti, Sergio Daga, Floriana Valentino, Gabriella Doddato, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, Anna Maria Pinto, Nicola Iuso, Chiara Gabbi, Francesca Sciarra, Mary Anna Venneri, Marco Gori, Maurizio Sanarico, Francis P. Crawley, Uberto Pagotto, Flaminia Fanelli, Marco Mezzullo, Elena Dominguez-Garrido, Laura Planas-Serra, Agatha Schlüter, Roger Colobran, Pere Soler-Palacin, Pablo Lapunzina, Jair Tenorio, Aurora Pujol, Maria Grazia Castagna, Marco Marcelli, Andrea M. Isidori, Alessandra Renieri, Elisa Frullanti, Francesca Mari
Published 2021-03-01

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

by Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Published 2021-05-01