Search for dissertations about: "5-oxoprolinuria"

Found 3 swedish dissertations containing the word 5-oxoprolinuria.

  2. 1. Inborn errors in the metabolism of glutathione

    Author : Ellinor Ristoff; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Glutathione; glutathione synthetase; 5-oxoprolinuria; gamma-glutamylcysteine; gamma-glutamylcysteine synthetase; gamma-glutamyl cycle; ROS;

    Abstract : Glutathione (GSH) is a tripeptide present in all mammalian cells. It takes part in several fundamental biological functions, including handling of reactive oxygen species (ROS), detoxification of xenobiotics and carcinogens, redox reactions, biosynthesis of DNA and leukotrienes, as well as neurotransmission/neuromodulation. READ MORE

  4. 2. Molecular genetic studies of three autosomal recessive disorders : Sjögren-Larsson syndrome, glutathione synthetase deficiency and congenital ichthyosis

    Author : Maritta Pigg; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Sjögren-Larsson syndrome; glutathione synthetase deficiency; congenital ichthyosis; linkage analysis; allelic association; mutation analysis; transglutaminase 1 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Abstract : Investigations at the DNA level were performed in order to characterise the molecular basis forthree genetic disorders:Sjögren-Larsson syndrome (SLS) is characterised by congenital ichthyosis and severeneurological symptoms. Linkage analysis and allelic association of 24 Swedish families affectedby SLS showed linkage between the disease and the marker D17S805 on chromosome 17. READ MORE

  5. 3. Molecular aspects of glutathione synthetase deficiency

    Author : Runa Vidar Njålsson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Glutathione synthetase; kinetics; cooperativity; substrate affinity; splice mutations; phenotype; genotype;

    Abstract : The tripeptide glutathione (GSH) is involved in several crucial pathways in the cell, for instance regulation of enzyme activity, DNA synthesis, and free radical scavenging. Synthesis of GSH takes place via two steps in the gamma-glutamyl cycle. READ MORE