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Browsing by Subject "Mutation (Biology)"

Now showing items 1-3 of 3

    • Complete loss of EPCAM immunoexpression identifies EPCAM deletion carriers in MSH2-negative colorectal neoplasia 

      Cuatrecasas, Míriam; Gorostiaga, Iñigo; Riera, Cristina; Saperas, Esteban; Llort, Gemma; Costa, Irmgard; Matias-Guiu, Xavier; Carrato, Cristina; Navarro, Matilde; Pineda, Marta; Dueñas, Núria; Brunet, Joan; Marco, Vicente; Trias, Isabel; Busteros, José Ignacio; Mateu, Gemma; Balaguer, Francesc; Fernández-Figueras, María-Teresa; Esteller, Manel; Musulén, Eva (MDPI, 2020)
      The use of epithelial cell adhesion molecule (EPCAM) immunohistochemistry (IHC) is not included in the colorectal cancer (CRC) screening algorithm to detect Lynch syndrome (LS) patients. The aim of the ...

    • Identification of conserved amino acid residues in rat liver carnitine palmitoyltransferase I critical for malonyl-CoA inhibition. Mutation of methionine 593 abolishes malonyl-CoA inhibition 

      Morillas, Montserrat; Gómez-Puertas, Paulino; Bentebibel, Assia; Sellés, Eva; Casals i Farré, Núria; Valencia, Alfonso; Hegardt, Fausto G.; Asins, Guillermina; Serra, Dolors (Journal of Biological Chemistry, 2003-03-14)
      Carnitine palmitoyltransferase (CPT) I, which catalyzes the conversion of palmitoyl-CoA to palmitoylcarnitine facilitating its transport through the mitochondrial membranes, is inhibited by malonyl-CoA. ...

    • Structural (betaalpha) 8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase 

      Casals i Farré, Núria; Gómez-Puertas, Paulino; Pié, Juan; Mir, Cecilia; Roca, Ramón; Puisac, Beatriz; Aledo, Rosa; Clotet Erra, Josep; Menao, Sebastián; Serra, Dolors; Asins, Guillermina; Till, Jacqueline; Elias-Jones, Alun C.; Cresto, Juan C.; Chamoles, Nestor A.; Abdenur, Jose E.; Mayatepek, Ertan; Besley, Guy; Valencia, Alfonso; Hegardt, Fausto G. (Journal of Biological Chemistry, 2003)
      This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in ...