Affiliation: Karolinska Institutet
- Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS geneRuna 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...
- Glutathione synthetase deficiencyR 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...
- Physiological and pathological aspects of GSH metabolismRuna 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...
- Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiencyRuna 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...
- Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymesRuna 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...
- Kinetic properties of missense mutations in patients with glutathione synthetase deficiencyR 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...
- Glutathione is essential for early embryogenesis--analysis of a glutathione synthetase knockout mouseAndreas 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...
- Cooperative binding of gamma-glutamyl substrate to human glutathione synthetaseR 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...
- 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...
- Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiencyE 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...
- Long-term clinical outcome in patients with glutathione synthetase deficiencyE 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...
- Oxidative stress in inborn errors of metabolism: lessons from glutathione deficiencyE 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...
- A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemiaE 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...
- Patients with genetic defects in the gamma-glutamyl cycleE 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...
- Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunctionN 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...
- Glutathione and gamma-glutamyl cycle enzymes in human fetal liverD Rollins
J Pharmacol Exp Ther 217:697-700. 1981....
- Clonal populations of chondrocytes with progenitor properties identified within human articular cartilageM 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...
- Serum antibodies against prostasomal clusterin in prostate cancer patientsK G Ronquist
Department of Medical Sciences, Clinical Chemistry, University Hospital, Uppsala, Sweden
Scand J Clin Lab Invest 68:219-27. 2008....
- Pseudomonas aeruginosa infections are prevented in cystic fibrosis patients by avian antibodies binding Pseudomonas aeruginosa flagellinE 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...
- Prostasome antigens as targets for sperm agglutinating antibodies demonstrated by 1-D gel electrophoresis and immunoblottingsL 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...
- Glutathione synthetase deficiency associated with antenatal cerebral bleedingL 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...
- Matrix metalloproteinase (MMP)-9 type IV collagenase/gelatinase implicated in the pathogenesis of Sjögren's syndromeY 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...
- Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infantsA 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...
- Evidence for two different classes of redox-active cysteines in ribonucleotide reductase of Escherichia coliA 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)...