%0 Journal Article %1 Kamerbeek.20070415 %A Kamerbeek, M. Nanne %A van Zwieten, Rob %A Boer, Martin %A Morren, Gert %A Vuil, Herma %A Bannink, Natalja %A Lincke, Carsten %A Dolman, M. Koert %A Becker, Katja %A Schirmer, Heiner R. %A Gromer, Stephan %A Roos, Dirk %D 2007/04/15/ %J Blood %K Alleles Amino_Acid_Substitution Cataract Child Codon Erythrocytes Favism Female Genetic_Diseases Glutathione_Reductase Heterozygote Humans IFZ Inborn Infant Jaundice Leukocytes Male Middle_Aged Neonatal Newborn Nonsense Preschool Protein_Structure Quaternary Sequence_Deletion Tertiary %N 8 %P 3560-3566 %T Molecular basis of glutathione reductase deficiency in human blood cells %V 109 %X Hereditary glutathione reductase (GR) deficiency was found in only 2 cases when testing more than 15 000 blood samples. We have investigated the blood cells of 2 patients (1a and 1b) in a previously described family suffering from favism and cataract and of a novel patient (2) presenting with severe neonatal jaundice. Red blood cells and leukocytes of the patients in family 1 did not contain any GR activity, and the GR protein was undetectable by Western blotting. Owing to a 2246-bp deletion in the patients' DNA, translated GR is expected to lack almost the complete dimerization domain, which results in unstable and inactive enzyme. The red blood cells from patient 2 did not exhibit GR activity either, but the patient's leukocytes contained some residual activity that correlated with a weak protein expression. Patient 2 was found to be a compound heterozygote, with a premature stop codon on one allele and a substitution of glycine 330, a highly conserved residue in the superfamily of N

@article{Kamerbeek.20070415, abstract = {Hereditary glutathione reductase (GR) deficiency was found in only 2 cases when testing more than 15 000 blood samples. We have investigated the blood cells of 2 patients (1a and 1b) in a previously described family suffering from favism and cataract and of a novel patient (2) presenting with severe neonatal jaundice. Red blood cells and leukocytes of the patients in family 1 did not contain any GR activity, and the GR protein was undetectable by Western blotting. Owing to a 2246-bp deletion in the patients' DNA, translated GR is expected to lack almost the complete dimerization domain, which results in unstable and inactive enzyme. The red blood cells from patient 2 did not exhibit GR activity either, but the patient's leukocytes contained some residual activity that correlated with a weak protein expression. Patient 2 was found to be a compound heterozygote, with a premature stop codon on one allele and a substitution of glycine 330, a highly conserved residue in the superfamily of N}, added-at = {2008-10-14T16:07:18.000+0200}, author = {Kamerbeek, M. Nanne and van Zwieten, Rob and Boer, Martin and Morren, Gert and Vuil, Herma and Bannink, Natalja and Lincke, Carsten and Dolman, M. Koert and Becker, Katja and Schirmer, Heiner R. and Gromer, Stephan and Roos, Dirk}, biburl = {https://www.bibsonomy.org/bibtex/24cd883fd4676fcbf70bc4e397511dbf0/nutribiochem}, interhash = {7e388501bb202f099317eac21d95c0c5}, intrahash = {4cd883fd4676fcbf70bc4e397511dbf0}, journal = {Blood}, keywords = {Alleles Amino_Acid_Substitution Cataract Child Codon Erythrocytes Favism Female Genetic_Diseases Glutathione_Reductase Heterozygote Humans IFZ Inborn Infant Jaundice Leukocytes Male Middle_Aged Neonatal Newborn Nonsense Preschool Protein_Structure Quaternary Sequence_Deletion Tertiary}, number = 8, pages = {3560-3566}, timestamp = {2008-10-14T16:08:41.000+0200}, title = {Molecular basis of glutathione reductase deficiency in human blood cells}, volume = 109, year = {2007/04/15/} }