Browsing by Author "Pujol, Aurora, 1968-"

Sort by: Order: Results:

  • A view on clinical genetics and genomics in Spain: of challenges and opportunities.
    Pàmpols, Teresa; Ramos, Feliciano J.; Lapunzina, Pablo Daniel; Gozalo-Salellas, Ignasi; Pérez Jurado, Luis Alberto; Pujol, Aurora, 1968- (Willey, 2016)
    Historical and social perspectives, together with economic context, are essential to comprehend and appreciate the current status of any discipline. This is particularly true for fields relying on technological advances ...
  • Case report: benign infantile seizures temporally associated with COVID-19
    García Howard, Marcos; Herranz Aguirre, Mercedes; Moreno Galarraga, Laura; Urretavizcaya Martínez, María; Alegría Echauri, Josune; Gorría Redondo, Nerea; Planas Serra, Laura; Schlüter, Agatha; Gut, Marta; Pujol, Aurora, 1968-; Aguilera Albesa, Sergio (Frontiers, 2020)
    Background: Non-febrile illness seizures may present in previously healthy children as afebrile seizures associated with minor infections, such as mild gastroenteritis or respiratory tract infections, and are linked to a ...
  • Cross-talk between inflammation amd mitochondria in X-linked adrenoleukodystrophy (X-ALD) : an integrative approach towards diferent therapies
    Parameswaran, Janani, 1990- (Universitat Pompeu Fabra, 2018-03-09)
    Lack of function of ALDP in mouse leads to a late onset disease, characterized by spastic paraparesis and degeneration of corticospinal tracts, without signs of inflammatory demyelization resembling AMN patients. Taking ...
  • 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 ...
  • Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
    Pant, Devesh Chandra, 1987-; Pujades Corbi, Cristina; Pujol, Aurora, 1968- (American Society for Clinical Investigation, 2019)
    Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the myelin sheath. We have used whole-exome sequencing in patients with undetermined leukoencephalopathies to uncover the endoplasmic ...
  • 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 ...