Visualitzant per matèria 

Visualitzant per matèria "Iron metabolism"

Ara mostrant els elements 1-4 de 4

    • Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis 

      Vila Cuenca, Marc; Marchi, Giacomo; Barqué, Anna; Esteban-Jurado, Clara; Marchetto, Alessandro; Giorgetti, Alejandro; Chelban, Viorica; Houlden, Henry; Wood, Nicholas W.; Piubelli, Chiara; Dorigatti Borges, Marina; Martins de Albuquerque, Dulcinéia; Yotsumoto Fertrin, Kleber; Jové-Buxeda, Ester; Sanchez-Delgado, Jordi; Baena-Díez, Neus; Burnyte, Birute; Utkus, Algirdas; BUSTI, Fabiana; Kaubrys, Gintaras; Suku, Eda; Kowalczyk, Kamil; Karaszewski, Bartosz; Porter, John B.; Pollard, Sally; Eleftheriou, Perla; Bignell, Patricia; GIRELLI, Domenico; Sanchez-Fernandez, Mayka (International Journal of Molecular Sciences, 2020)
      Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation ...

    • L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases 

      Cadenas, Beatriz; Fita-Torró, Josep; Bermúdez-Cortés, Mar; Hernandez-Rodriguez, Inés; Fuster, José Luis; Llinares, María Esther; Galera, Ana María; Lee Romero, Julia; Pérez-Montero, Santiago; Tornador, Cristian; Sanchez-Fernandez, Mayka (Pharmaceuticals, 2019)
      Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin ...

    • Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome 

      Luscieti, Sara; Tolle, Gabriele; Aranda, Jessica; Benet Campos, Carmen; Risse, Frank; Morán, Érica; Muckenthaler, Martina U.; Sanchez-Fernandez, Mayka (Orphanet Journal of Rare Diseases, 2013)
      Background: Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a rare autosomal dominant disease characterized by increased serum ferritin levels and early onset of bilateral cataract. The disease ...

    • SIREs: searching for iron-responsive elements 

      Campillos, Monica; Cases, Ildefonso; Hentze, Matthias W.; Sanchez-Fernandez, Mayka (Nucleic Acids Research, 2010-07)
      The iron regulatory protein/iron-responsive element regulatory system plays a crucial role in the post-transcriptional regulation of gene expression and its disruption results in human disease. IREs are ...