Now showing items 1-7 of 7

    • Aberrant regulation of the GSK-3b/NRF2 axis unveils a novel therapy for adrenoleukodystrophy 

      Ranea-Robles, Pablo; Launay, Nathalie; Ruiz, Montserrat; Calingasan, Noel Ylagan; Dumont, Magali; Naudí i Farré, Alba; Portero Otín, Manuel; Pamplona Gras, Reinald; Ferrer, Isidre; Beal, M. Flint; Fourcade, Stéphane; Pujol, Aurora (Wiley Open Access, 2018)
      The nuclear factor erythroid 2-like 2 (NRF2) is the master regulator of endogenous antioxidant responses. Oxidative damage is a shared and early-appearing feature in X-linked adrenoleukodystrophy (X-ALD) patients and ...
    • 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 ...
    • 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 ...
    • Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: a paradigm for multifactorial neurodegenerative diseases? 

      Galea, Elena; Launay, Nathalie; Portero Otín, Manuel; Ruiz, Montserrat; Pamplona Gras, Reinald; Aubourg, Patrick; Ferrer, Isidre; Pujol, Aurora (Elsevier, 2012)
      X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder expressed as four disease variants characterized by adrenal insufficiency and graded damage in the nervous system. X-ALD is caused by a loss ...
    • Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy 

      Morató, Laia; Galino, Jorge; Ruiz, Montserrat; Calingasan, Noel Ylagan; Starkov, Anatoly A.; Dumont, Magali; Naudí i Farré, Alba; Martínez, Juan José; Aubourg, Patrick; Portero Otín, Manuel; Pamplona Gras, Reinald; Galea, Elena; Flint Beal, M.; Ferrer, Isidre; Fourcade, Stéphane; Pujol, Aurora (Oxford Journals, 2013)
      X-linked adrenoleukodystrophy is a neurometabolic disorder caused by inactivation of the peroxisomal ABCD1 transporter of very long-chain fatty acids. In mice, ABCD1 loss causes late onset axonal degeneration in the spinal ...
    • Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy 

      Fourcade, Stéphane; Ruiz, Montserrat; Guilera, Cristina; Hahnen, Eric; Brichta, Lars; Naudí i Farré, Alba; Portero Otín, Manuel; Dacremont, Georges; Cartier, Nathalie; Wanders, Ronald; Kemp, Stephan; Mandel, Jean Louis; Wirth, Brunhilde; Pamplona Gras, Reinald; Aubourg, Patrick; Pujol, Aurora (Oxford University Press, 2010)
      X-linked adrenoleukodystrophy (X-ALD) is a fatal, axonal demyelinating, neurometabolic disease. It results from the functional loss of a member of the peroxisomal ATP-binding cassette transporter subfamily D (ABCD1), ...