Now showing items 1-4 of 4

    • Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy 

      Ruiz, Montserrat; Jové Font, Mariona; Schlüter, Agatha; Casasnovas, Carlos; Villarroya, Francesc; Guilera, Cristina; Ortega, Francisco J.; Naudí i Farré, Alba; Pamplona Gras, Reinald; Gimeno, Ramón; Fourcade, Stéphane; Portero Otín, Manuel; Pujol, Aurora (Oxford University Press, 2015)
      X-linked adrenomyeloneuropathy (AMN) is an inherited neurometabolic disorder caused by malfunction of the ABCD1 gene, characterized by slowly progressing spastic paraplegia affecting corticospinal tracts, and adrenal ...
    • Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study 

      Casasnovas, Carlos; Ruiz, Montserrat; Schlüter, Agatha; Naudí i Farré, 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 Gras, Reinald; Pujol, Aurora (Springer Verlag, 2019-05)
      X-Adrenoleukodystrophy (X-ALD) and its adult-onset, most prevalent variant adrenomyeloneuropathy (AMN) are caused by mutations in the peroxisomal transporter of the very long-chain fatty acid ABCD1. AMN patients classically ...
    • Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy 

      López Erauskin, Jone; Galino, Jorge; Ruiz, M.; Cuezva, J. M.; Fabregat, I.; Cacabelos Barral, Daniel; Boada Pallàs, Jordi; Martínez, Juan José; Ferrer, Isidre; Pamplona Gras, Reinald; Villarroya, Francesc; Portero Otín, Manuel; Fourcade, Stéphane; Pujol, A. (Oxford Journals, 2013)
      X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disorder of the nervous system characterized by axonopathy in spinal cords and/or cerebral demyelination, adrenal insufficiency and accumulation of very ...
    • Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance 

      Fourcade, Stéphane; Morató, Laia; Parameswaran, Janani; Ruiz, Montserrat; Ruiz-Cortés, Tatiana; Jové Font, Mariona; Naudí i Farré, Alba; Martínez, Paloma; Dierssen, Mara; Ferrer, Isidre; Villarroya, Francesc; Pamplona Gras, Reinald; Vaquero, Alejandro; Portero Otín, Manuel; Pujol, Aurora (Wiley, 2017)
      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 ...