Now showing items 1-2 of 2

    • Mechanisms of CPT1C-Dependent AMPAR trafficking enhancement 

      Gratacòs-Batlle, Esther; Olivella, Mireia; Sánchez-Fernández, Nuria; Yefimenko, Natalia; MIguez-Cabello, Federico; Fadó Andrés, Rut; Casals i Farré, Núria; Gasull, Xavier; Ambrosio, Santiago; Soto, David (Frontiers in Molecular Neuroscience, 2018-08-08)
      In neurons, AMPA receptor (AMPAR) function depends essentially on their constituent components: the ion channel forming subunits and ion channel associated proteins. On the other hand, AMPAR trafficking ...
    • Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III 

      Hernández, Gonzalo; Romero-Cortadellas, Lídia; Ferrer-Cortès, Xènia; Venturi, Veronica; Dessy-Rodriguez, Mercedes; Olivella, Mireia; Husami, Ammar; Pérez De Soto, Concepción; Morales-Camacho, Rosario M.; Villegas, Ana; González-Fernández, Fernando-Ataulfo; Morado, Marta; Kalfa, Theodosia A.; Quintana-Bustamante, Oscar; Pérez-Montero, Santiago; Tornador, Cristian; Segovia, Jose-Carlos; Sánchez, Mayka (Haematologica, 2023)
      Congenital dyserythropoietic anemia type III (CDA III) is one of the rarest types of CDA. The autosomal dominant form of CDA III, is due to mono-allelic mutations in the KIF23 gene (MIM:105600); two ...