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  • Gustavo Tiscornia, Erika Lorenzo Vivas, +10 authors Juan Carlos Izpisúa Belmonte
  • Biology, Chemistry, Medicine
  • Human molecular genetics
  • 15 February 2013
  • Gaucher's disease (GD) is caused by mutations in the GBA1 gene, which encodes acid-β-glucosidase, an enzyme involved in the degradation of complex sphingolipids. While the non-neuronopathic aspectsContinue Reading
  • Leslie Matalonga, Ángela Arias, María Josep Coll, Judit García-Villoria, Laura Gort, Antonia Ribes
  • Biology, Medicine
  • Journal of Inherited Metabolic Disease
  • 1 May 2014
  • Coenzyme Q10 (CoQ10) plays a key role in the exchange of electrons in lysosomal membrane, which contributes to protons’ translocation into the lumen and to the acidification of intra-lysosomalContinue Reading
  • Frédéric Tort, Xènia Ferrer-Cortés, +12 authors Antonia Ribes
  • Biology, Medicine
  • Human molecular genetics
  • 1 April 2014
  • Cofactor disorders of mitochondrial energy metabolism are a heterogeneous group of diseases with a wide variety of clinical symptoms, particular metabolic profiles and variable enzymatic defects.Continue Reading