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- Lindblad, K, et al.
(author)
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An expanded CAG repeat sequence in spinocerebellar ataxia type 7
- 1996
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In: Genome research. - : Cold Spring Harbor Laboratory. - 1088-9051. ; 6:10, s. 965-971
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Journal article (peer-reviewed)abstract
- Expanded CAG repeat sequences have been identified in the coding region of genes mutated in several neurodegenerative disorders, including spinocerebellar ataxia type 1 and Machado-Joseph disease. In all disorders described to date the CAG expansion codes for an elongated polyglutamine chain. An increased polyglutamine chain size leads to a more severe disease, thus correlating with the genetic anticipation seen in repeat expansion disorders. Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant spinocerebellar ataxia with anticipation and a progressive degeneration of the cerebellar cortex. Using repeat expansion detection (RED), a method in which a thermostable ligase is used to detect repeat expansions directly from genomic DNA, we have analyzed 8 SCA7 families for the presence of CAG repeat expansions. RED products of 150-240 bp were found in all affected individuals and found to cosegregate with the disease (P < 0.000001, n = 66), indicating strongly that a CAG expansion is the cause of SCA7. On the basis of a previously established correlation between RED product sizes and actual repeat sizes in Machado-Joseph disease, we were able to estimate the average expansion size in SCA7 to be 64 CAG copies.
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- Andersson, M., et al.
(author)
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NK-lysin, a disulfide-containing effector peptide of T-lymphocytes, is reduced and inactivated by human thioredoxin reductase. Implication for a protective mechanism against NK-lysin cytotoxicity
- 1996
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In: Journal of Biological Chemistry. - : American Society for Biochemistry and Molecular Biology. - 0021-9258 .- 1083-351X. ; 271:17, s. 10116-10120
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Journal article (peer-reviewed)abstract
- The cytotoxic and antibacterial polypeptide NK-lysin has a molecular mass of approximately 9 kDa and contains three disulfide bonds. The activity was highly dependent on intact disulfides, because the bactericidal effect on Escherichia coli and the cytolytic effect on human 3B6 lymphocytes was inhibited when NK-lysin was treated with dithiothreitol prior to incubation with the cells. NK-lysin was a direct substrate for human or calf thymus thioredoxin reductase and preincubation of the peptide with mammalian thioredoxin reductase, and NADPH abolished its antibacterial and cytolytic activities. The addition of human thioredoxin further enhanced the inhibitory effect of thioredoxin reductase and NADPH. In contrast, e. coli thioredoxin reductase showed no direct disulfide reductase activity with NK-lysin in agreement with previous data showing large differences in structure and substrate specificity between the mammalian and E. coli enzymes. NK-lysin is the first identified macromolecular disulfide substrate for human thioredoxin reductase apart from human thioredoxin. When 3B6 cells were incubated with NADPH, thioredoxin, and thioredoxin reductase prior to addition of NK-lysin, cytotoxicity was markedly reduced. These data suggest that thioredoxin reductase inactivates NK-lysin and provides a mechanism by which the cytotoxic activity of NK-lysin is regulated.
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- Bertini, R, et al.
(author)
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Thioredoxin, a redox enzyme released in infection and inflammation, is a unique chemoattractant for neutrophils, monocytes, and T cells
- 1999
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In: The Journal of experimental medicine. - : Rockefeller University Press. - 0022-1007 .- 1540-9538. ; 189:11, s. 1783-1789
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Journal article (peer-reviewed)abstract
- Thioredoxin (Trx) is a ubiquitous intracellular protein disulfide oxidoreductase with a CXXC active site that can be released by various cell types upon activation. We show here that Trx is chemotactic for monocytes, polymorphonuclear leukocytes, and T lymphocytes, both in vitro in the standard micro Boyden chamber migration assay and in vivo in the mouse air pouch model. The potency of the chemotactic action of Trx for all leukocyte populations is in the nanomolar range, comparable with that of known chemokines. However, Trx does not increase intracellular Ca2+ and its activity is not inhibited by pertussis toxin. Thus, the chemotactic action of Trx differs from that of known chemokines in that it is G protein independent. Mutation of the active site cysteines resulted in loss of chemotactic activity, suggesting that the latter is mediated by the enzyme activity of Trx. Trx also accounted for part of the chemotactic activity released by human T lymphotropic virus (HTLV)-1–infected cells, which was inhibited by incubation with anti-Trx antibody. Since Trx production is induced by oxidants, it represents a link between oxidative stress and inflammation that is of particular interest because circulating Trx levels are elevated in inflammatory diseases and HIV infection.
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- Björnstedt, M., et al.
(author)
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Selenium and the thioredoxin and glutaredoxin systems
- 1997
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In: Biomedical and environmental sciences. - : Elsevier. - 0895-3988 .- 2214-0190. ; 10:2-3, s. 271-279
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Journal article (peer-reviewed)abstract
- Thioredoxin (Trx) is a small ubiquitous dithiol protein which together with the FAD-containing enzyme thioredoxin reductase (TR) and NADPH (the Trx system) is a hydrogen donor for ribonucleotide reductase essential for DNA synthesis and a general protein disulfide reductase involved in redox regulation. Selenite, selenodiglutathione (GS-Se-SG) and selenocystine are efficiently reduced by thioredoxins and also directly by NADPH and mammalian TR but not by the E. coli enzyme. Incubation of selenite or GS-Se-SG with the Trx system or with mammalian TR results in a rapid formation of selenide, which by redox cycling with oxygen may cause a large non-stoichiometric oxidation of NADPH. Selenocystine is efficiently reduced into two molecules of the selenol amino acid selenocysteine by mammalian TR with a K(m)-value (6 mumol.L-1) and a high turnover number (kappa cat 3200 min-1) almost identical to the natural substrate Trx-S2. TR also directly reduces lipid hydroperoxides and this peroxidase reaction is strongly stimulated by the presence of catalytic amounts of free selenocysteine. Glutaredoxin (Grx) which catalyzes GSH-dependent disulfide reduction also via a redox-active disulfide and Trx are both efficient electron donors to the human plasma glutathione peroxidase providing a mechanism by which human plasma glutathione peroxidase may reduce hydroperoxides in an environment almost free from glutathione. Selenate is reduced by Grx and Trx in the presence of GSH. The DNA-binding of the transcription factor AP-1 is strongly inhibited by GS-Se-SG and selenite. Furthermore, selenide formed by TR-mediated reduction of selenite and GS-Se-SG inhibits lipoxygenase and changes the electron spin resonance spectrum of the active site iron. Mammalian TR with two subunits of 57 kDa has recently been cloned and shown to be homologous to glutathione reductase. The rat enzyme contains a selenocysteine residue in a unique Cterminal position and a conserved SECIS sequence directing insertion of the selenocysteine. The discovery of selenocysteine in mammalian TR may explain the broad substrate specificity of the enzyme and the requirement of selenium for cell proliferation.
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- Blomquist, H K, et al.
(author)
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Glycerol kinase deficiency in two brothers with and without clinical manifestations.
- 1996
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In: Clinical genetics. - 0009-9163 .- 1399-0004. ; 50:5, s. 375-9
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Journal article (peer-reviewed)abstract
- We report two brothers with glycerol kinase deficiency (GKD). The older brother had serious clinical symptoms, mental and growth retardation, abnormal skeleton, spontaneous fractures and premature loss of abnormal teeth. He and his mother had low serum phosphate levels. He had elevated serum and urine glycerol levels and GKD was found in cultured fibroblasts. Prenatal diagnosis was performed in the second pregnancy. Glycerol kinase activity was considered normal in a chorionic villus sample of the foetus. After birth, it was found that the boy had elevated serum and urine glycerol levels. Enzymatic analysis in cultured fibroblasts revealed that this boy also had GKD, in spite of having no expression of the disease. Chromosomal analyses in the parents and both boys were normal. Major rearrangements or deletions were not detected in molecular studies of DNA from the two brothers. The hybridisation pattern was normal and no allelic loss was observed.
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- Eliasson, L, et al.
(author)
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Observations of electron conics by the Viking satellite
- 1996
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In: JOURNAL OF GEOPHYSICAL RESEARCH-SPACE PHYSICS. - : AMER GEOPHYSICAL UNION. - 0148-0227. ; 101:A6, s. 13225-13238
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Journal article (other academic/artistic)abstract
- Electron angular distributions peaked at oblique angles to the magnetic field, electron conics, are frequently found in the Viking data at all magnetic local times, but with a maximum in the dusk sector. Several types of electron conics have been observed
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| 22. |
- Gustafsson, G, et al.
(author)
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The electric field and wave experiment for the Cluster mission
- 1997
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In: Space Science Reviews. - 0038-6308 .- 1572-9672. ; 79, s. 137-156
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Journal article (peer-reviewed)abstract
- The electric-field and wave experiment (EFW) on Cluster is designed to measure the electric-field and density fluctuations with sampling rates up to 36 000 samples s(-1). Langmuir probe sweeps can also be made to determine the electron density and temperature. The instrument has several important capabilities. These include (1) measurements of quasi-static electric fields of amplitudes lip to 700 mV m(-1) with high amplitude and time resolution, (2) measurements over short periods of time of up to five simualtaneous waveforms (two electric signals and three magnetic signals from the seach coil magnetometer sensors) of a bandwidth of 4 kHz with high time resolution, (3) measurements of density fluctuations in four points with high time resolution. Among the more interesting scientific objectives of the experiment are studies of nonlinear wave phenomena that result in acceleration of plasma as well as large- and small-scale interferometric measurements. By using four spacecraft for large-scale differential measurements and several Langmuir probes on one spacecraft for small-scale interferometry, it will be possible to study motion and shape of plasma structures on a wide range of spatial and temporal scales. This paper describes the primary scientific objectives of the EFW experiment and the technical capabilities of the instrument.
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| 23. |
- Gustafsson, G, et al.
(author)
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The electric field and wave experiment for the Cluster mission
- 1997
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In: SPACE SCIENCE REVIEWS. - : KLUWER ACADEMIC PUBL. - 0038-6308. ; 79:1-2, s. 137-156
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Journal article (peer-reviewed)abstract
- The electric-field and wave experiment (EFW) on Cluster is designed to measure the electric-field and density fluctuations with sampling rates up to 36 000 samples s(-1). Langmuir probe sweeps can also be made to determine the electron density and tempera
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| 24. |
- Holmgren, Allan, et al.
(author)
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SER spectra analysis of molecules with D-3h and D-6h symmetry groups
- 1998
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In: Pure and Applied Optics. - : IOP Publishing. - 0963-9659. ; 7:1, s. 115-117
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Journal article (peer-reviewed)abstract
- On the basis of the theory of SER spectra, proposed in a previous paper, the SER spectra of 1,3,5-trifluorobenzene, 1,3,5-trideuteriobenzene, benzene and hexafluorobenzene are analysed. It is demonstrated that the bands, caused by the totally symmetric modes and by the mode transforming as the d(z) moment experience large enhancement. The existence of a large number of forbidden bands in the SER spectra is pointed out. Some anomalies in the enhanced spectra are explained by qualitative ideas and by the 'interference phenomenon' of various contributions. It is pointed out that all the observed lines and regularities of the SER spectra can be explained within the framework of the quadrupole and dipole electrodynamical mechanism of the enhancement.
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