Browsing Ciències Bàsiques by Author "Sanchez-Fernandez, Mayka"
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Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome
Van de Sompele, Stijn; PECHEUX, Lucie; Couso, Jorge; Meunier, Audrey; Sanchez-Fernandez, Mayka; De Baere, Elfride (Scientific Reports, 2017)Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare disorder usually caused by heterozygous mutations in the iron-responsive element (IRE) in the 5′ untranslated region (5′UTR) of the ... -
Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease - report of new cases
Celma Nos, Ferran; Hernández, Gonzalo; Ferrer-Cortès, Xènia; Hernandez-Rodriguez, Ines; Navarro-Almenzar, Begoña; Fuster, José Javier; Bermúdez Cortés, Mar; Pérez-Montero, Santiago; Tornador, Cristian; Sanchez-Fernandez, Mayka (International Journal of Molecular Sciences, 2021)Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder ... -
Iron Regulation and the Cell Cycle: identification of an iron-responsive element in the 3′-untranslated region of human cell division cycle 14a mrna by a refined microarray-based screening strategy
Sanchez-Fernandez, Mayka; Galy, Bruno; Dandekar, Thomas; Bengert, Peter; Vainshtein, Yevhen; Stolte, Jens; Muckenthaler, Martina; Hentze, Matthias (The Journal of Biological Chemistry, 2006)Iron regulatory proteins (IRPs) 1 and 2 post-transcriptionally control mammalian iron homeostasis by binding to iron-responsive elements (IREs), conserved RNA stem-loop structures located in the 5′- or ...