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    • Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis 

      Giroud Gerbetant, Judith; Sotillo, Fernando; Hernández, Gonzalo; Ruano, Irene; Sebastián, David; Fort, Joana; Sanchez-Fernandez, Mayka; Weiss, Günter; Prats, Neus; Zorzano, Antonio; Palacín, Manuel; Bodoy, Susanna (Molecular Medicine, 2025)
      Background: Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment ...

    • The actin binding protein profilin 2 is a novel regulator of iron homeostasis 

      Luscieti, Sara; Galy, Bruno; Gutierrez, Lucia; Reinke, Michael; Couso, Jorge; Shvartsman, Maya; Di Pascale, Antonio; Witke, Walter; Hentze, Matthias W.; Pilo Boyl, Pietro; Sanchez, Mayka (Blood, 2017)
      Cellular iron homeostasis is controlled by the iron regulatory proteins (IRPs) 1 and 2 that bind cis-regulatory iron-responsive elements (IRE) on target messenger RNAs (mRNA). We identified profilin 2 ...