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Browsing by Subject "Aminoácidos"

Now showing items 1-5 of 5

    • A nucleotide-based drug protects against glutamate- and MPP+ -induced neurotoxicity 

      Gella Concustell, Alejandro; Martiáñez Canales, Tània; Lamarca Dams, Aloa; Gutierrez, Cristina; Durany, Nuria; Casals i Farré, Núria (Neuroscience & Medicine, 2011)
      Nucleo CMP Forte® is a nucleotide-based drug consisting of cytidinemonophosphate, uridinemonophosphate, uridin-ediphosphate and uridinetriphosphate. It has been prescribed for peripheral nervous system ...

    • Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency 

      Buesa, Carlos; Pié, Juan; Barceló, Ana; Casals i Farré, Núria; Mascaró, Cristina; Casale, César H.; Haro, Diego; Duran, Marinus; Smeitink, Jan A. M.; Hegardt, Fausto G. (Journal of Lipid Research, 1996-11)
      A novel point mutation in the 3-hydroxy-3methyl-glutaryl coenzyme A lyase gene was found in a Turkish patient with homozygous 3-hydroxy-3-methylglutaric acidemia. Amplification by RT-PCR of the mRNA ...

    • 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 ...

    • Molecular evolution of multiple-level control of heme biosynthesis pathway in animal kingdom 

      Tzou, Wen-Shyong; Chu, Ying; Lin, Tzung-Yi; Hu, Chin-Hwa; Pai, Tun-Wen; Liu, Hsin-Fu; Lin, Han-Jia; Cases, Ildeofonso; Rojas, Ana; Sanchez-Fernandez, Mayka; You, Zong-Ye; Hsu, Ming-Wei (PLoS One, 2014)
      Adaptation of enzymes in a metabolic pathway can occur not only through changes in amino acid sequences but also through variations in transcriptional activation, mRNA splicing and mRNA translation. The ...

    • 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 ...