Browsing by Author "Fourcade, Stéphane"

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  • Identification of the sphingolipid desaturase DEGS1 as a novel gene for a leukodystrophy in therapeutic hope
    Pant, Devesh Chandra, 1987- (Universitat Pompeu Fabra, 2018-10-05)
    In spite of recent advances in understanding the genetic bases of leukodystrophies, a large number of clinical cases remain unexplained, suggesting that many leukodystrophy-associated genes have yet to be identified. Here ...
  • Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance
    Fourcade, Stéphane; Morató, Laia; Parameswaran, Janani, 1990-; Ruiz, Montserrat; Ruiz Cortés, Tatiana; Jové, Mariona; Naudí, Alba; Martínez Redondo, Paloma; Dierssen, Mara; Ferrer, Isidre; Villarroya, Francesc; Pamplona, Reinald; Vaquero, Alejandro; Portero Otín, Manuel; Pujol, Aurora, 1968- (Wiley, 2018)
    Sirtuin 2 (SIRT2) is a member of a family of NAD+ -dependent histone deacetylases (HDAC) that play diverse roles in cellular metabolism and especially for aging process. SIRT2 is located in the nucleus, cytoplasm, and ...
  • Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model
    Ranea-Robles, Pablo; Galino, Jorge; Espinosa Blay, Lluís; Schlüter, Agatha; Ruiz, Montserrat; Calingasan, Noel Ylagan; Villarroya, Francesc; Naudí, Alba; Pamplona, Reinald; Ferrer, Isidre; Beal, M. Flint; Portero Otín, Manuel; Fourcade, Stéphane; Pujol, Aurora, 1968- (Wiley, 2022)
    Aims: Mitochondrial dysfunction and inflammation are at the core of axonal degeneration in several multifactorial neurodegenerative diseases, including multiple sclerosis, Alzheimer's disease, and Parkinson's disease. The ...
  • The value of mouse models of rare diseases: a spanish experience
    Murillo-Cuesta, Silvia; Artuch, Rafael; Asensio, Fernando; Villa, Pedro de la; Dierssen, Mara; Enríquez, Jose Antonio; Fillat i Fonts, Cristina; Fourcade, Stéphane; Ibáñez, Borja; Montoliu, Lluis; Oliver, Eduardo; Pujol, Aurora, 1968-; Salido, Eduardo; Vallejo, Mario; Varela Nieto, Isabel (Frontiers, 2020)
    Animal models are invaluable for biomedical research, especially in the context of rare diseases, which have a very low prevalence and are often complex. Concretely mouse models provide key information on rare disease ...