Runa Njalsson

Summary

Affiliation: Karolinska Institutet
Country: Sweden

Publications

  1. ncbi Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene
    Runa Njalsson
    Department of Clinical Science, Division of Pediatrics, Karolinska Institutet, Huddinge University H ospital, 141 86 Stockholm, Sweden
    Hum Mutat 22:497. 2003
  2. ncbi Glutathione synthetase deficiency
    R Njalsson
    Division of Paediatrics, Department of Clinical Sciences, Karolinska Institutet, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden
    Cell Mol Life Sci 62:1938-45. 2005
  3. ncbi Physiological and pathological aspects of GSH metabolism
    Runa Njalsson
    Department of Clinical Science, Division of Paediatrics, Karolinska University Hospital Huddinge, Stockholm, Sweden
    Acta Paediatr 94:132-7. 2005
  4. ncbi Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency
    Runa Njalsson
    Division of Paediatrics, Department of Clinical Sciences, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm 14186, Sweden
    Hum Genet 116:384-9. 2005
  5. pmc Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes
    Runa Njalsson
    Department of Paediatrics, Karolinska Institutet, Karolinska University Hospital, 141 86 Stockholm, Sweden
    Biochem J 381:489-94. 2004
  6. pmc Kinetic properties of missense mutations in patients with glutathione synthetase deficiency
    R Njalsson
    Department of Paediatrics, B57, Karolinska Institutet, Huddinge University Hospital, S 141 86 Huddinge, Sweden
    Biochem J 349:275-9. 2000
  7. doi Glutathione is essential for early embryogenesis--analysis of a glutathione synthetase knockout mouse
    Andreas Winkler
    Division of Pediatric Endocrinology, Department of Woman and Child Health, Karolinska Institutet, Karolinska University Hospital Huddinge, SE 14186 Stockholm, Sweden
    Biochem Biophys Res Commun 412:121-6. 2011
  8. ncbi Cooperative binding of gamma-glutamyl substrate to human glutathione synthetase
    R Njalsson
    Department of Pediatrics, Karolinska Institute, Huddinge University Hospital, 141 86 Huddinge, Sweden
    Biochem Biophys Res Commun 289:80-4. 2001
  9. ncbi Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?
    E Ristoff
    Department of Paediatrics, Karolinska Institutet, Huddinge University Hospital, Stockholm, Sweden
    J Inherit Metab Dis 25:577-84. 2002
  10. ncbi Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency
    E Ristoff
    Department of Pediatrics, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden
    J Inherit Metab Dis 30:102. 2007

Collaborators

Detail Information

Publications24

  1. ncbi Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene
    Runa Njalsson
    Department of Clinical Science, Division of Pediatrics, Karolinska Institutet, Huddinge University H ospital, 141 86 Stockholm, Sweden
    Hum Mutat 22:497. 2003
    ..Thus, we conclude that in the investigation of patients with glutathione synthetase deficiency, and probably other genetic diseases as well, it might be time saving to initiate mutation analysis with sequencing of mRNA...
  2. ncbi Glutathione synthetase deficiency
    R Njalsson
    Division of Paediatrics, Department of Clinical Sciences, Karolinska Institutet, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden
    Cell Mol Life Sci 62:1938-45. 2005
    ..Today, no cure can be offered these patients; they are given vitamins C and E to boost their antioxidant levels, and bicarbonate to correct metabolic acidosis...
  3. ncbi Physiological and pathological aspects of GSH metabolism
    Runa Njalsson
    Department of Clinical Science, Division of Paediatrics, Karolinska University Hospital Huddinge, Stockholm, Sweden
    Acta Paediatr 94:132-7. 2005
    ..By studying these patients, further insight into the functions and metabolism of glutathione can be achieved...
  4. ncbi Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency
    Runa Njalsson
    Division of Paediatrics, Department of Clinical Sciences, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm 14186, Sweden
    Hum Genet 116:384-9. 2005
    ..The type of mutation involved can, to some extent, predict a mild versus a more severe phenotype...
  5. pmc Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes
    Runa Njalsson
    Department of Paediatrics, Karolinska Institutet, Karolinska University Hospital, 141 86 Stockholm, Sweden
    Biochem J 381:489-94. 2004
    ..The structural consequences of the mutations were interpreted on the basis of the known structure of the wild-type enzyme...
  6. pmc Kinetic properties of missense mutations in patients with glutathione synthetase deficiency
    R Njalsson
    Department of Paediatrics, B57, Karolinska Institutet, Huddinge University Hospital, S 141 86 Huddinge, Sweden
    Biochem J 349:275-9. 2000
    ..Thus our data indicate that different mutations can affect the catalytic capacity of GS by decreasing substrate affinity, maximal velocity or enzyme stability...
  7. doi Glutathione is essential for early embryogenesis--analysis of a glutathione synthetase knockout mouse
    Andreas Winkler
    Division of Pediatric Endocrinology, Department of Woman and Child Health, Karolinska Institutet, Karolinska University Hospital Huddinge, SE 14186 Stockholm, Sweden
    Biochem Biophys Res Commun 412:121-6. 2011
    ..GC could not be detected in any investigated tissue. These data demonstrate that GSH is essential for mammalian development, and GSH synthesis via GS is an indispensable pathway for survival...
  8. ncbi Cooperative binding of gamma-glutamyl substrate to human glutathione synthetase
    R Njalsson
    Department of Pediatrics, Karolinska Institute, Huddinge University Hospital, 141 86 Huddinge, Sweden
    Biochem Biophys Res Commun 289:80-4. 2001
    ..75, indicating negative cooperativity. Our studies, for the first time, show that human glutathione synthetase is an allosteric enzyme with cooperative binding for gamma-glutamyl substrate...
  9. ncbi Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?
    E Ristoff
    Department of Paediatrics, Karolinska Institutet, Huddinge University Hospital, Stockholm, Sweden
    J Inherit Metab Dis 25:577-84. 2002
    ..7-51.4), we propose that the cultured fibroblasts may have a mechanism to regulate in a coordinated way the levels of GSH and gamma-GC; for instance, by both compounds acting as feedback inhibitors of gamma-GC synthetase...
  10. ncbi Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency
    E Ristoff
    Department of Pediatrics, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden
    J Inherit Metab Dis 30:102. 2007
    ..If this is the case, the redox state in the retina should be a potentially useful therapeutic target to prevent reduced visual function and blindness...
  11. ncbi Long-term clinical outcome in patients with glutathione synthetase deficiency
    E Ristoff
    Department of Pediatrics, Karolinska Institutet, Huddinge University Hospital, Stockholm, Sweden
    J Pediatr 139:79-84. 2001
    ..Our results indicate that early supplementation with vitamins C and E may improve the long-term clinical outcome...
  12. ncbi Oxidative stress in inborn errors of metabolism: lessons from glutathione deficiency
    E Ristoff
    Karolinska Institutet, Children s Hospital, Huddinge University Hospital, Stockholm, Sweden
    J Inherit Metab Dis 25:223-6. 2002
    ..The possible role of oxidative stress in the pathogenesis of inborn errors of metabolism is discussed in the light of inborn errors in the metabolism of glutathione...
  13. ncbi A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia
    E Ristoff
    Department of Pediatrics, Karolinska Institute, Huddinge University Hospital, Huddinge, Sweden
    Blood 95:2193-6. 2000
    ..Several family members with half-normal GCS activity in their erythrocytes were heterozygous for the mutation...
  14. ncbi Patients with genetic defects in the gamma-glutamyl cycle
    E Ristoff
    Department of Pediatrics, Karolinska Institute, Huddinge University Hospital, Sweden
    Chem Biol Interact 111:113-21. 1998
    ..It is also important to investigate other patients with inherited defects in the gamma-glutamyl cycle to learn more about the biological role of GSH in man...
  15. ncbi Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction
    N Dahl
    Department of Clinical Genetics, Uppsala University Children s Hospital, Sweden
    Hum Mol Genet 6:1147-52. 1997
    ..Our results suggest that complete loss of function of both GS alleles is probably lethal. It is postulated that missense mutations will account for the phenotype in the majority of patients with severe GS deficiency...
  16. ncbi Glutathione and gamma-glutamyl cycle enzymes in human fetal liver
    D Rollins
    J Pharmacol Exp Ther 217:697-700. 1981
    ....
  17. ncbi Clonal populations of chondrocytes with progenitor properties identified within human articular cartilage
    M Thornemo
    Department of Clinical Chemistry and Transfusion Medicine, Sahlgrenska University Hospital, Goteborg, Sweden
    Cells Tissues Organs 180:141-50. 2005
    ..This study demonstrates that existing subpopulations of cells with chondroprogenitor properties can be isolated from human adult articular cartilage using agarose suspension cultures...
  18. ncbi Serum antibodies against prostasomal clusterin in prostate cancer patients
    K G Ronquist
    Department of Medical Sciences, Clinical Chemistry, University Hospital, Uppsala, Sweden
    Scand J Clin Lab Invest 68:219-27. 2008
    ....
  19. ncbi Pseudomonas aeruginosa infections are prevented in cystic fibrosis patients by avian antibodies binding Pseudomonas aeruginosa flagellin
    E Nilsson
    Department of Medical Sciences, Clinical Chemistry, Uppsala University, SE 751 85 Uppsala, Sweden
    J Chromatogr B Analyt Technol Biomed Life Sci 856:75-80. 2007
    ..Furthermore, secreted flagellin elicits an inflammatory response. In conclusion, anti-Pseudomonas IgY binds flagellin, which may prevent PA infections in CF patients by hindering host invasion...
  20. ncbi Prostasome antigens as targets for sperm agglutinating antibodies demonstrated by 1-D gel electrophoresis and immunoblottings
    L Carlsson
    Department of Medical Cell Biology, Biomedical Center, University of Uppsala, S 751 85 Uppsala, Sweden
    Int J Androl 27:360-7. 2004
    ..This suggests that prostasomes offer a new set of antigens available for research on male immunoinfertility and immunocontraception...
  21. ncbi Glutathione synthetase deficiency associated with antenatal cerebral bleeding
    L W Brüggemann
    Department of Metabolic Diseases, University Medical Center, Utrecht, The Netherlands
    J Inherit Metab Dis 27:275-6. 2004
    ..We present a newborn with glutathione synthetase deficiency and intracranial haemorrhages. Because the latter are rare in term newborns a possible relationship with glutathione synthetase deficiency will be discussed...
  22. ncbi Matrix metalloproteinase (MMP)-9 type IV collagenase/gelatinase implicated in the pathogenesis of Sjögren's syndrome
    Y T Konttinen
    Department of Anatomy, University of Helsinki, Finland
    Matrix Biol 17:335-47. 1998
    ..Due to the role of basal lamina as an important molecular sieve and extracellular matrix-cell signal, these pathological changes may contribute to the pathogenesis of the syndrome...
  23. ncbi Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants
    A Nordenstrom
    Department of Pediatrics, Karolinska Institutet, Huddinge University Hospital, Sweden
    Pediatrics 108:E68. 2001
    ..The aim of the study was to optimize the procedure for neonatal screening for CAH in preterm infants...
  24. ncbi Evidence for two different classes of redox-active cysteines in ribonucleotide reductase of Escherichia coli
    A Aberg
    Department of Molecular Biology, University of Stockholm, Sweden
    J Biol Chem 264:12249-52. 1989
    ..coli ribonucleotide reductase suggested previously (Lin, A.-N. I., Ashley, G. W., and Stubbe, J. (1987) Biochemistry 26, 6905-6909)...