Publicaciones en colaboración con investigadores/as de University of Bergen (20)

2011

  1. Divergence in enzyme regulation between Caenorhabditis elegans and human tyrosine hydroxylase, the key enzyme in the synthesis of dopamine

    Biochemical Journal, Vol. 434, Núm. 1, pp. 133-141

  2. The regulatory subunit of PKA-I remains partially structured and undergoes β-aggregation upon thermal denaturation

    PLoS ONE, Vol. 6, Núm. 3

2010

  1. Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2

    Journal of Neurochemistry, Vol. 114, Núm. 3, pp. 853-863

  2. Phenylalanine hydroxylase expression in primary rat hepatocytes is modulated by oxygen concentration

    Molecular Genetics and Metabolism, Vol. 101, Núm. 2-3, pp. 279-281

  3. Superstoichiometric binding of L-Phe to phenylalanine hydroxylase from Caenorhabditis elegans: Evolutionary implications

    Amino Acids, Vol. 39, Núm. 5, pp. 1463-1475

2009

  1. Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

    Journal of Inherited Metabolic Disease, Vol. 32, Núm. 1, pp. 10-21

  2. Iron binding effects on the kinetic stability and unfolding energetics of a thermophilic phenylalanine hydroxylase from Chloroflexus aurantiacus

    Journal of Biological Inorganic Chemistry, Vol. 14, Núm. 4, pp. 521-531

2008

  1. Anabolic function of phenylalanine hydroxylase in Caenorhabditis elegans

    FASEB Journal, Vol. 22, Núm. 8, pp. 3046-3058

  2. Chapter 3 Rescuing Proteins of Low Kinetic Stability by Chaperones and Natural Ligands. Phenylketonuria, a Case Study

    Progress in Nucleic Acid Research and Molecular Biology, Vol. 83, pp. 89-134

  3. Engineering proteins with tunable thermodynamic and kinetic stabilities

    Proteins: Structure, Function and Genetics, Vol. 71, Núm. 1, pp. 165-174

  4. Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

    Journal of Clinical Investigation, Vol. 118, Núm. 8, pp. 2858-2867

  5. Thermoplasma acidophilum Cdc6 protein stimulates MCM helicase activity by regulating its ATPase activity.

    Nucleic acids research, Vol. 36, Núm. 17, pp. 5602-5609

2007

  1. Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases

    American Journal of Human Genetics, Vol. 81, Núm. 5, pp. 1006-1024

  2. Structure of phenylalanine hydroxylase from Colwellia psychrerythraea 34H, a monomeric cold active enzyme with local flexibility around the active site and high overall stability

    Journal of Biological Chemistry, Vol. 282, Núm. 30, pp. 21973-21986

  3. Tetrahydrobiopterin for patients with phenylketonuria

    Lancet

2006

  1. Specific interaction of the diastereomers 7(R)- and 7(S)- tetrahydrobiopterin with phenylalanine hydroxylase: Implications for understanding primapterinuria and vitiligo

    FASEB Journal, Vol. 20, Núm. 12

2005

  1. The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: An isothermal titration calorimetry study

    Molecular Genetics and Metabolism, Vol. 86, Núm. SUPPL., pp. 43-53

2004

  1. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 101, Núm. 48, pp. 16903-16908

  2. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

    Human Mutation, Vol. 24, Núm. 5, pp. 388-399

  3. Thermodynamic characterization of the binding of tetrahydropterins to phenylalanine hydroxylase

    Journal of the American Chemical Society, Vol. 126, Núm. 42, pp. 13670-13678