Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Runa NJÅLSSON"'
Autor:
Svante Norgren, Runa Njålsson
Publikováno v:
Acta Paediatrica. 94:132-137
UNLABELLED The antioxidant glutathione is found in low levels in diseases in which increasing evidence implicate oxidative stress in the development of the disease, for example retinopathy of prematurity, necrotizing enterocolitis, bronchopulmonary d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2d029adb430d02ebc029d24c2fb3ac2b
https://doi.org/10.1111/j.1651-2227.2005.tb01878.x
https://doi.org/10.1111/j.1651-2227.2005.tb01878.x
Autor:
Ellinor Ristoff, Andreas Winkler, Agne Larsson, Svante Norgren, Runa Njålsson, Katarina Carlsson
Publikováno v:
Human Genetics. 116:384-389
Glutathione synthetase (GS) deficiency is a rare autosomal recessive disorder. The clinical phenotype varies widely, and nearly 30 different mutations in the GSS gene have been identified. In the present study, genotype, enzyme activity, metabolite l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b434759349b20380875df85fe2dc8a82
https://doi.org/10.1007/s00439-005-1255-6
https://doi.org/10.1007/s00439-005-1255-6
Autor:
Runa Njålsson, Mary E. Anderson, Katarina Carlsson, Vikas S. Bhansali, Agne Larsson, Jia-Li Luo, Rudolf Ladenstein, Svante Norgren, Lennart Nilsson
Publikováno v:
Biochemical Journal. 381:489-494
Patients with hereditary glutathione synthetase deficiency suffer from haemolytic anaemia, 5-oxoprolinuria, metabolic acidosis, recurrent bacterial infections and various degrees of central nervous system dysfunction. To investigate the molecular bas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78358cc085f1cbc495ed76bd126019e8
https://doi.org/10.1042/bj20040114
https://doi.org/10.1042/bj20040114
Autor:
Linu S. Abraham, Michael W. Lieberman, Björn Rozell, Abdelaziz Elgadi, Katarina Carlsson, Agne Larsson, Nuran Ercal, Zheng Zheng Shi, Andreas Winkler, Svante Norgren, Runa Njålsson
Publikováno v:
Biochemical and biophysical research communications. 412(1)
Glutathione (GSH) is present in all mammalian tissues and plays a crucial role in many cellular processes. The second and final step in the synthesis involves the formation of GSH from gamma-glutamylcysteine (γ-GC) and glycine and is catalyzed by gl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94eb181b5b723ba7306364f0f04f245e
https://pubmed.ncbi.nlm.nih.gov/21802407
https://pubmed.ncbi.nlm.nih.gov/21802407
Autor:
Runa Njålsson
Publikováno v:
Cellular and molecular life sciences : CMLS. 62(17)
Glutathione (GSH), one of the most important antioxidants in the eukaryotic organism, is synthesized in a two-step procedure where the last step is catalysed by the enzyme glutathione synthetase (GSS). GSS deficiency is inherited autosomal recessivel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a39ee9bf3639136f20a7e1ac0dee933
https://pubmed.ncbi.nlm.nih.gov/15990954
https://pubmed.ncbi.nlm.nih.gov/15990954
Autor:
Tuhina Raman, Prayus Tailor, Cheryl Garganta, Runa Njålsson, Hugh B. Carey, Ellinor Ristoff, Katarina Carlsson
Publikováno v:
American journal of kidney diseases : the official journal of the National Kidney Foundation. 46(1)
High anion gap metabolic acidosis in adults is a severe metabolic disorder for which the primary organic acid usually is apparent by clinical history and standard laboratory testing. We report a case of recurrent high anion gap metabolic acidosis in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59c4f38abd80973faaa0c431b64955a7
https://pubmed.ncbi.nlm.nih.gov/15983950
https://pubmed.ncbi.nlm.nih.gov/15983950
Publikováno v:
Human mutation. 22(6)
The synthesis of the ubiquitous tripeptide glutathione is impaired in patients with glutathione synthetase deficiency. The defect is inherited in an autosomal recessive manner, and the diagnosis is based on clinical, biochemical, and genetic criteria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fa6f97947f5222adebbdad6732882b43
https://pubmed.ncbi.nlm.nih.gov/14635114
https://pubmed.ncbi.nlm.nih.gov/14635114
Publikováno v:
Journal of inherited metabolic disease. 25(7)
Glutathione (GSH) plays a major role in the cellular defence against oxidative stress and other vital cellular functions. It therefore seems inevitable that patients with severe depletion of GSH will not survive. However, at least some with glutathio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1608870d07d31f197b35fee2c3cad24
https://pubmed.ncbi.nlm.nih.gov/12638941
https://pubmed.ncbi.nlm.nih.gov/12638941
Publikováno v:
Biochemical and biophysical research communications. 289(1)
Human glutathione synthetase is responsible for catalyzing the final step in glutathione biosynthesis. It is a homodimer with a monomer subunit MW of 52 kDa. Kinetic analysis reveals a departure from linearity of the Lineweaver-Burk double reciprocal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6faf5ca44480583063aa2d73e3819a95
https://pubmed.ncbi.nlm.nih.gov/11708780
https://pubmed.ncbi.nlm.nih.gov/11708780
Autor:
Runa NJÅLSSON, Katarina CARLSSON, Birgit OLIN, Birgit CARLSSON, Lel WHITBREAD, Galina POLEKHINA, Michael W. PARKER, Svante NORGREN, Bengt MANNERVIK, Philip G. BOARD, Agne LARSSON
Patients with hereditary glutathione synthetase (GS) (EC 6.3.2.3) deficiency present with variable clinical pictures, presumably related to the nature of the mutations involved. In order to elucidate the relationship between genotype, enzyme function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aa72155ab06b1b64524f4f2caf0a3bd
https://europepmc.org/articles/PMC1221148/
https://europepmc.org/articles/PMC1221148/
