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111.
Jan Hendrickx Paul Coucke Marie-Claude Hors-Cayla G. Peter A. Smit Yoon S. Shin Johann Deutsch Jan Smeitink Ruud Berger Philip Lee John Fernandes Patrick J. Willems 《Genomics》1994,21(3)
We describe here a new type of X-linked liver glycogen storage disease. The main symptoms include liver enlargement and growth retardation. The clinical and biochemical abnormalities of this glycogenosis are similar to those of classical X-linked liver glycogenosis due to phosphorylase kinase deficiency (XLG). However, in contrast to patients with XLG, the patients described here have no reduced phosphorylase kinase activity in erythrocytes and leukocytes, and no enzyme deficiency could be found. Linkage analysis of four families with this X-linked type of liver glycogenosis assigned the disease gene to Xp22. Lod scores obtained with the markers DXS987, DXS207, and DXS999 were 3.97, 2.71, and 2.40, respectively, all at 0% recombination. Multipoint linkage analysis localized the disease gene between DXS143 and DXS989 with a maximum lod score of 4.70 at θ = 0, relative to DXS987. As both the classical XLG gene and the liver α-subunit of PHK (PHKA2) are also located in Xp22, this variant type of XLG may be allelic to classical XLG, and both diseases may be caused by mutations in PHKA2. Therefore, we propose to classify XLG as XLG type I (the classical type of XLG) and XLG type II (the variant type of XLG). 相似文献
112.
Plasma membrane phosphatidic acid phosphohydrolase (PAPH) plays an important role in signal transduction by converting phosphatidic acid to diacylglycerol. PAPH-2, a Mg2+-independent, detergent-dependent enzyme involved in cellular signal transduction, is reportedly absent from the plasma membranes of neutrophilic leukocytes, a cell that responds to metabolic stimulation with abundant phospholipase
-dependent diacylglycerol generation. The present study was designed to resolve this discrepancy, focusing on the influence of cellular disruption techniques, detergenta availability and cation sensitivity on the apparent distribution of PAPH in neutrophil sub-cellular fractions. The results clearly indicate the presence of two distinct types of PAPH within the particulate and cytosolic fractions of disrupted cells. Unlike the cytosolic enzyme, the particulate enzyme was not potentiated by magnesium and was strongly detergent-dependent. The soluble and particulate enzymes displayed dissimilar pH profiles. Separation of neutrophil particulate material into fractions rich in plasma membranes, specific granules and azurophilic granules by high speed discontinuous density gradient centrifugation revealed that the majority of the particulate activity was confined to plasma membranes. This activity was not inhibited by pretreatment with n-ethyl-maleimide in concentrations as high as 25 mM. PAPH activity recovered in the cytosolic fraction of disrupted neutrophils was almost completely inhibited by 5.0 mM n-ethylmaleimide. We conclude that resting neutrophils possess n-ethylmaleimide-resistant PAPH (type 2) within their plasma membranes. This enzyme may markedly influence the kinetics of cell activation by metabolizing second messengers generated as a result of activation of plasma membrane phospholipase D. 相似文献
113.
114.
Jacek Najda Jan Gmiński Marian Dróżdż Franciszek Zych 《Biological trace element research》1993,37(2-3):101-106
The influence of silicon-treatment on the levels of TSH and thyroid hormones was studied in rats. Concentrations of thyrotropin
(TSH), triiodothyronine (T3), and thyroxine (T4) were estimated in sera of rats receiving per os a soluble silicon compound—sodium metasilicate nonahydrate (Na2SiO3·9H2O), dissolved in the animals' drinking water. An increase in the TSH level in the tested group was observed, without statistically
significant differences in T3 and T4 concentrations between the two groups of animals. The results provide evidence for the influence of silicon on the endocrine
balance. They could also prove that this chemical element is capable of modifying the rate of some hormones' synthesis. 相似文献
115.
116.
Filamentous algae in eutrophic carp ponds in South Bohemia (Central Europe) were studied from 1988 to 1990. High biomass (490 g DW m-2) was attained by Cladophora fracta (O. F. Müll. ex Vahl) Kütz. after two months of growth. This marked growth depleted inorganic carbon in the water, but did not decrease the concentration of tissue nutrients. Laboratory measurements of final pH indicate that all the filamentous algae studied, except for Tribonema, are very efficient HCO3
- users. An extremely high pH of 11.6 and oxygen concentration of 32 mg l-1 were measured in the algal mats. High pH resulted in CaCO3 precipitation, visible as white incrustations on algal filaments. The amount of precipitated CaCO3 reached 134 kg ha-1. After reaching peak biomass, 90% of the Cladophora decomposed over the next 95 days.The highest net photosynthetic rate in C. fracta was measured between pH range 8.5–10.0 and oxygen concentrations of 7–12 mg l-1. Optimum temperature for photosynthesis was between 17–22°C. 相似文献
117.
Arlette Pesty Brigitte Lefvre Jacek Kubiak Grard Graud Jan Tesarik Bernard Maro 《Molecular reproduction and development》1994,38(2):187-199
The incubation of mechanically denuded mouse oocytes in medium containing LiCl delayed both germinal vesicle breakdown (GVBD) and polar body extrusion in a dose-dependent and reversible manner. When myo-inositol alone was added to the culture medium, we observed that it accelerated GVBD and increased the rate of polar body extrusion, whereas, when combined with LiCl, the normal timing of GVBD was recovered. In the same way, when inositol trisphosphate (InsP3) was microinjected into the ooplasma, we observed an important improvement of the rate of GVBD, as compared to control oocytes, and prevention of lithium inhibition. However, neither myo-inositol nor InsP3 were able to rescue totally the oocytes from the negative effect of lithium on polar body extrusion. Moreover, lithium induced some important changes in microtubule and chromosome organizations. Before extrusion of the first polar body, the reduction of the spindle size or the appearance of short individualized chromosomes dispersed around a large aster of microtubules were often observed, whereas, after polar body extrusion, the spindle appeared smaller and chromosomes were often trapped in the midbody. Thus lithium affects mouse oocyte maturation at two different levels: GVBD and polar body extrusion. Whereas the former seems to be affected via polyphosphoinositide turnover, the latter is InsP3-independent and seems to be influenced negatively via underdevelopment of microtubular structures. © 1994 Wiley-Liss, Inc. 相似文献
118.
Jan Jeník 《Folia Geobotanica》1994,29(2):291-306
Bulkiness, longevity and solidity of the body in woody plants enable the successive development of accessory shoots and adventitious roots in (1) both proximal and distal positions on organs, (2) both the above-ground and below-ground space, (3) both the aerial and soil environments. In monocotyledons, woody rhizomes play an essential role in the basic growth habit and architectural models. In dicotyledonous and a few gymnospermous trees, attached and successively disconnected ramets play a multilateral role in the pertinent life strategies. The majority of sprouts, coppice shoots and root suckers behave as opportunistic organs (a) serving as means of vegetative reproduction, (b) securing colonization of unoccupied ground, (c) increasing competitive power of the species within the community, (d) increasing survival rate of the stressed/disturbed genet in marginal habitats, (e) forming replacement for ageing or damaged organs, and (f) enabling reiteration of the genet's entire architectural model. 相似文献
119.
Roeland Van Wijk Marij Welters Jan E. M. Souren Hans Ovelgonne Fred A. C. Wiegant 《Journal of cellular physiology》1993,155(2):265-272
In this work, we demonstrate that a nonlethal dose of arsenite administered to quiescent C3H10T1/2 fibroblasts can enhance the mitogenic effect of suboptimal concentrations of serum. The mitogenic effect was dependent on the serum concentration and on the time interval between the administration of arsenite and that of serum. This suggests that mitogen sensitivity changes in time after arsenite treatment. It is shown that the concentrations of arsenite that enhance the mitogenic effect of serum also increase the mRNA levels of c-fos, HSP68, and HSP84 and induce the specific synthesis of Heat Shock Proteins (HSPs). The physiological significance of this phenomenon is most likely to counteract the long-term toxic effect of arsenite by early induction of compensation for cell loss. © 1993 Wiley-Liss, Inc. 相似文献
120.
Marc Vandermeeren‡ Marc Mercken‡ Eugeen Vanmechelen‡ Jan Six‡ ré Van de Voorde‡Jean-Jacques Martin† Patrick Cras 《Journal of neurochemistry》1993,61(5):1828-1834
Abstract— Alzheimer's disease is a progressive degenerative dementia characterized by the abundant presence of neurofibrillary tangles in neurons. This study was designed to test whether the microtubule-associated protein, a major component of neurofibrillary tangles, could be detected in CSF. Additionally, we investigated whether CSF levels were abnormal in Alzheimer's disease as compared with a large group of control patients. We developed a sensitive sandwich enzyme-linked immunosorbent assay using AT120, a monoclonal antibody directed to human, as a capturing antibody. With this technique, the detection limit for was less than 5 pg/ml of CSF. Using ATS, which recognizes abnormally phosphorylated ser-ines 199–202 in, the detection limit was below 20 pg/ml of CSF. However, with AT8, we found no immunoreactiv-ity in CSF, suggesting that only a small fraction of CSF contains the abnormally phosphorylated AT8 epitope. Our results indicate that CSF levels are significantly increased in Alzheimer's disease. Also, CSF levels in a large group of patients with a diversity of neurological diseases showed overlap with CSF levels in Alzheimer's disease. 相似文献