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排序方式: 共有227条查询结果,搜索用时 390 毫秒
91.
Toshiyuki Yamamoto Eiji Nanba Haruaki Ninomiya Katsumi Higaki Miyako Taniguchi Haidi Zhang Shinjiro Akaboshi Yasuhiro Watanabe Takao Takeshima Koji Inui Shintaro Okada Akemi Tanaka Norio Sakuragawa Gilles Millat Marie T. Vanier Jill A. Morris Peter G. Pentchev Kousaku Ohno 《Human genetics》1999,105(1-2):10-16
Complementary and genomic DNAs isolated from the fibroblasts of 10 Japanese (7 late infantile, 2 juvenile, and 1 adult form
of the disease) and one Caucasian patient with Niemann-Pick disease type C were analyzed for mutations in the NPC1 gene. Fourteen
novel mutations were found including small deletions and point mutations. A one-base deletion and a point mutation caused
splicing errors. The mutations were not clustered in any particular region of the gene and were found both in and out of the
transmembrane domains. Three patients were homozygous, five were compound heterozygous, and the remaining three were suspected
of being compound hetrozygous with an unknown error in one of their NPC1 alleles. Of the 14 mutations, the G1553A substitution
that caused a splicing error of exon 9 appeared to be relatively common in Japanese patients, because two patients were homozygous
and one patient was compound heterozygous for this mutation.
Electronic Publication 相似文献
92.
Contribution of the mevalonate and methylerythritol phosphate pathways to the biosynthesis of gibberellins in Arabidopsis 总被引:9,自引:0,他引:9
Kasahara H Hanada A Kuzuyama T Takagi M Kamiya Y Yamaguchi S 《The Journal of biological chemistry》2002,277(47):45188-45194
Gibberellins (GAs) are diterpene plant hormones essential for many developmental processes. Although the GA biosynthesis pathway has been well studied, our knowledge on its early stage is still limited. There are two possible routes for the biosynthesis of isoprenoids leading to GAs, the mevalonate (MVA) pathway in the cytosol and the methylerythritol phosphate (MEP) pathway in plastids. To distinguish these possibilities, metabolites from each isoprenoid pathway were selectively labeled with (13)C in Arabidopsis seedlings. Efficient (13)C-labeling was achieved by blocking the endogenous pathway chemically or genetically during the feed of a (13)C-labeled precursor specific to the MVA or MEP pathways. Gas chromatography-mass spectrometry analyses demonstrated that both MVA and MEP pathways can contribute to the biosyntheses of GAs and campesterol, a cytosolic sterol, in Arabidopsis seedlings. While GAs are predominantly synthesized through the MEP pathway, the MVA pathway plays a major role in the biosynthesis of campesterol. Consistent with some crossover between the two pathways, phenotypic defects caused by the block of the MVA and MEP pathways were partially rescued by exogenous application of the MEP and MVA precursors, respectively. We also provide evidence to suggest that the MVA pathway still contributes to GA biosynthesis when this pathway is limiting. 相似文献
93.
Yamagishi S Inagaki Y Okamoto T Amano S Koga K Takeuchi M Makita Z 《The Journal of biological chemistry》2002,277(23):20309-20315
Advanced glycation end products (AGE) have been implicated in the pathogenesis of glomerulosclerosis in diabetes. However, their involvement in the development of the early phase of diabetic nephropathy has not been fully elucidated. We investigated the effects of AGE on growth and on vascular endothelial growth factor (VEGF) and monocyte chemoattractant protein-1 (MCP-1) expression in human cultured mesangial cells. We prepared three immunochemically distinct AGE by incubating bovine serum albumin (BSA) with glucose, glyceraldehyde, or glycolaldehyde. When human mesangial cells were cultured with various types of AGE-BSA, viable cell numbers as well as DNA syntheses were significantly decreased. All of the AGE-BSA were found to significantly increase p53 and Bax protein accumulations and subsequently induce apoptotic cell death in mesangial cells. An antioxidant, N-acetylcysteine, significantly prevented the AGE-induced apoptotic cell death in mesangial cells. Human mesangial cells stimulated prostacyclin production by co-cultured glomerular endothelial cells. Furthermore, various types of AGE-BSA were found to up-regulate the levels of mRNAs for VEGF and stimulate the secretion of VEGF and MCP-1 proteins in mesangial cells. The results suggest that AGE disturbed glomerular homeostasis by inducing apoptotic cell death in mesangial cells and elicited hyperfiltration and microalbuminuria by stimulating the secretion of VEGF and MCP-1 proteins, thereby being involved in the pathogenesis of the early phase of diabetic nephropathy. 相似文献
94.
Cai Ji Jiao Chunmeng Mekonnen Mulatie Legesse Solomon Addisu Ishikawa Kanako Wondie Ayalew Sato Shinjiro 《Limnology》2023,24(1):51-60
Limnology - Lake Tana, the largest lake in Ethiopia, has been severely threatened by water hyacinth infestation over the last decade, especially along the northeastern shore. Since this invasive... 相似文献
95.
Accelerated impairment of spermatogenic cells in SOD1-knockout mice under heat stress 总被引:4,自引:0,他引:4
Ishii T Matsuki S Iuchi Y Okada F Toyosaki S Tomita Y Ikeda Y Fujii J 《Free radical research》2005,39(7):697-705
For normal spermatogenesis, the temperature of the scrotum is lower than that of the body. The mechanism by which mammalian testes undergoes cell death as the result of exposure to heat continues to be a matter of debate. Since generation of reactive oxygen species (ROS) during heat stress and involvement in spermatogenic cell damage are postulated, we induced experimental cryptorchidism in the testes of SOD1-knockout mice and examined effects of the gene deficiency. The cleavage of DNA in testicular cells, as judged by TUNEL staining, were elevated in SOD1-knockout mice at an earlier stage than in the wild-type mice. To confirm responsiveness of SOD1 for this high susceptibility to heat stress, spermatogenic cells were isolated from SOD1-knockout and wild-type mice and cultured at 32.5 and 37°C. The cells isolated from SOD1-knockout were more vulnerable at both temperatures than those from wild-type mice. The exposure of cultured rat spermatogenic cells to ROS induced the release of cytochrome c from mitochondria, while Sertoli cells were more resistant under the same conditions. Tiron, a superoxide scavenger, suppressed the heat-induced release of cytochrome c from mitochondria. Collectively, these data suggest that ROS are generated during heat stress and cause spermatogenic cell death. Alternatively, since even a short exposure triggers harmful damage to spermatogenic cells, generated ROS may function as a type of signal for cell death rather than directly causing oxidative damage to cells. 相似文献
96.
A mono-aminated dextran derivative was attached to Bacillus badius phenylalanine dehydrogenase via a carbodiimide-catalyzed reaction. The optimum temperature for the conjugate was 10 °C higher
than for native enzyme, and its thermostability was improved by 8 °C. The activation free energy of thermal inactivation at
45 °C was increased by 16.8 kJ/mol. The improved conformational stability of the modified enzyme was confirmed by fluorescence
spectroscopy. 相似文献
97.
Weiqiang?Li Xiaojing?Liu Mohammad A.?Khan Yuji?Kamiya Shinjiro?YamaguchiEmail author 《Plant Growth Regulation》2005,45(3):199-207
Flixweed is one of the most abundant weeds in North America and China, and causes a reduction in crop yields. Dormancy of flixweed seeds is deep at maturity and is maintained in soil for several months. To identify regulators of seed dormancy and germination of flixweed, the effect of environmental and hormonal signals were examined using dormant and non-dormant seeds. The level of dormancy was decreased during after-ripening and stratification, but long imbibition (over 5 days) at 4 °C in the dark resulted in the introduction of secondary dormancy. The strict requirement of duration of cold treatment for the break of dormancy may play a role in the seasonal regulation of germination. The germination of non-dormant flixweed seeds was critically regulated by red (R) and far-red (FR) light in a photoreversible manner. Sodium nitroprusside, a donor of nitric oxide (NO), promoted germination of half-dormant seeds, suggesting that NO reduced the level of seed dormancy. As has been shown in other related species, light elevated sensitivity to GA4 in dark-imbibied flixweed seeds, but cold treatment did not affect GA4-sensitivity unlike in Arabidopsis. Taken together, our results indicate that seed germination in flixweed and its close relative Arabidopsis is controlled by similar as well as distinct mechanisms in response to various endogenous and environmental signals. 相似文献
98.
Kasahara H Takei K Ueda N Hishiyama S Yamaya T Kamiya Y Yamaguchi S Sakakibara H 《The Journal of biological chemistry》2004,279(14):14049-14054
Plants produce the common isoprenoid precursors isopentenyl diphosphate and dimethylallyl diphosphate (DMAPP) through the methylerythritol phosphate (MEP) pathway in plastids and the mevalonate (MVA) pathway in the cytosol. To assess which pathways contribute DMAPP for cytokinin biosynthesis, metabolites from each isoprenoid pathway were selectively labeled with (13)C in Arabidopsis seedlings. Efficient (13)C labeling was achieved by blocking the endogenous pathway genetically or chemically during the feed of a (13)C labeled precursor specific to the MEP or MVA pathways. Liquid chromatography-mass spectrometry analysis demonstrated that the prenyl group of trans-zeatin (tZ) and isopentenyladenine is mainly produced through the MEP pathway. In comparison, a large fraction of the prenyl group of cis-zeatin (cZ) derivatives was provided by the MVA pathway. When expressed as fusion proteins with green fluorescent protein in Arabidopsis cells, four adenosine phosphate-isopentenyltransferases (AtIPT1, AtIPT3, AtIPT5, and AtIPT8) were found in plastids, in agreement with the idea that the MEP pathway primarily provides DMAPP to tZ and isopentenyladenine. On the other hand, AtIPT2, a tRNA isopentenyltransferase, was detected in the cytosol. Because the prenylated adenine moiety of tRNA is usually of the cZ type, the formation of cZ in Arabidopsis seedlings might involve the transfer of DMAPP from the MVA pathway to tRNA. Distinct origins of large proportions of DMAPP for tZ and cZ biosynthesis suggest that plants are able to separately modulate the level of these cytokinin species. 相似文献
99.
100.
Application of a new PCR primer for terminal restriction fragment length polymorphism analysis of the bacterial communities in plant roots 总被引:5,自引:0,他引:5
Contamination with plastid small subunit (SSU) rDNA is a major drawback when analyzing the bacterial communities of plant roots using culture-independent methods. In this study, a polymerase chain reaction (PCR) primer, 783r, was designed and tested to specifically amplify the SSU rDNA of various bacterial species without amplifying the SSU rDNA of plant plastids. To confirm how useful the community analysis of rhizobacteria is using 783r, the terminal restriction fragment length polymorphism (T-RFLP) method was performed with wheat (Triticum aestivum) and spinach (Spinacea oleracea) root samples. Using the standard T-RFLP method, a large T-RF peak of plant plastid SSU rDNA interfered with the bacterial community analysis. In contrast, the T-RFLP method using the 783r primer was able to detect the bacterial DNA while directly eliminating the influence of the plant-derived DNA extracted from the plant roots. Primer 783r might, therefore, be a useful PCR primer for the culture-independent analysis of bacterial communities in plant roots using SSU rDNA. 相似文献