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71.
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats 总被引:1,自引:0,他引:1
Hess D Keusch JJ Oberstein SA Hennekam RC Hofsteenge J 《The Journal of biological chemistry》2008,283(12):7354-7360
Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye chamber defects, disproportionate short stature, developmental delay, and cleft lip and/or palate. It is caused by splice site mutations in what was thought to be a beta1,3-galactosyltransferase-like gene (B3GALTL). Recently, we and others found this gene to encode a beta1,3-glucosyltransferase involved in the synthesis of the disaccharide Glc-beta1,3-Fuc-Omicron-that occurs on thrombospondin type 1 repeats of many biologically important proteins. No functional tests have been performed to date on the presumed glycosylation defect in Peters Plus syndrome. We have established a sensitive immunopurification-mass spectrometry method, using multiple reaction monitoring, to analyze Omicron-fucosyl glycans. It was used to compare the reporter protein properdin from Peters Plus patients with that from control heterozygous relatives. In properdin from patients, we could not detect the Glc-beta1,3-Fuc-Omicron-disaccharide, and we only found Fuc-Omicron-at all four Omicron-fucosylation sites. In contrast, properdin from heterozygous relatives and a healthy volunteer carried the Glc-beta1,3-Fuc-Omicron-disaccharide. These data firmly establish Peters Plus syndrome as a new congenital disorder of glycosylation. 相似文献
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Hatem ZGALLAI Kathy STEPPE Raoul LEMEUR 《植物学报(英文版)》2005,47(12):1470-1478
Polyethylene glycol (PEG 6000)-induced water deficit causes physiological as well as biochemical changes in plants. The present study reports on the results of such changes in hydroponically grown tomato plants (Lycopersicon esculentum Mill. cv. Nikita). Plants were subjected to moderate and severe levels of water stress (i.e. water potentials in the nutrient solution of- 0.51 and -1.22 MPa, respectively). Water stress markedly affected the parameters of gas exchange. Net photosynthetic rate (Pn) decreased with the induction of water stress. Accordingly, a decrease in the transpiration rate (E) was observed. The ratio of both (Pn/E) resulted in a decrease in water use efficiency. One of the possible reasons for the reduction in Pn is structural damage to the thylakoids, which affects the photosynthetic transport of electrons. This was indicated by an increase in non-photochemical quenching and a reduction in the quantum yield of photosystem Ⅱ. Furthermore, a decrease in both leaf water potential and leaf osmotic potential was observed, which resulted in a significant osmotic adjustment during stress conditions. Analysis of the physiological responses was complemented with a study on changes in proline content. In stressed plants, a 10-fold increase in proline content was detected compared with control plants. It is clear that water stress tolerance is the result of a cumulative action of various physiological and biochemical processes, all of which were affected by PEG 6000-induced water stress. 相似文献
73.
Brca2 (XRCC11) Deficiency Results in Radioresistant DNA Synthesis and a Higher Frequency of Spontaneous Deletions 总被引:1,自引:0,他引:1
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Maria Kraakman-van der Zwet Wilhelmina J. I. Overkamp Rebecca E. E. van Lange Jeroen Essers Annemarie van Duijn-Goedhart Ingrid Wiggers Srividya Swaminathan Paul P. W. van Buul Abdellatif Errami Raoul T. L. Tan Nicolaas G. J. Jaspers Shyam K. Sharan Roland Kanaar Magorzata Z. Zdzienicka 《Molecular and cellular biology》2002,22(2):669-679
We show here that the radiosensitive Chinese hamster cell mutant (V-C8) of group XRCC11 is defective in the breast cancer susceptibility gene Brca2. The very complex phenotype of V-C8 cells is complemented by a single human chromosome 13 providing the BRCA2 gene, as well as by the murine Brca2 gene. The Brca2 deficiency in V-C8 cells causes hypersensitivity to various DNA-damaging agents with an extreme sensitivity toward interstrand DNA cross-linking agents. Furthermore, V-C8 cells show radioresistant DNA synthesis after ionizing radiation, suggesting that Brca2 deficiency affects cell cycle checkpoint regulation. In addition, V-C8 cells display tremendous chromosomal instability and a high frequency of abnormal centrosomes. The mutation spectrum at the hprt locus showed that the majority of spontaneous mutations in V-C8 cells are deletions, in contrast to wild-type V79 cells. A mechanistic explanation for the genome instability phenotype of Brca2-deficient cells is provided by the observation that the nuclear localization of the central DNA repair protein in homologous recombination, Rad51, is reduced in V-C8 cells. 相似文献
74.
Raoul Santiago Johanna Ortiz Jimenez Reza Forghani Nikesh Muthukrishnan Olivier Del Corpo Shairabi Karthigesu Muhammad Yahya Haider Caroline Reinhold Sarit Assouline 《Translational oncology》2021,14(10)
Biomarkers which can identify Diffuse Large B-Cell Lymphoma (DLBCL) likely to be refractory to first-line therapy are essential for selecting this population prior to therapy initiation to offer alternate therapeutic options that can improve prognosis. We tested the ability of a CT-based radiomics approach with machine learning to predict Primary Treatment Failure (PTF)-DLBCL from initial imaging evaluation. Twenty-six refractory patients were matched to 26 non-refractory patients, yielding 180 lymph nodes for analysis. Manual 3D delineation of the total node volume was performed by two independent readers to test the reproducibility. Then, 1218 hand-crafted radiomic features were extracted. The Random Forests machine learning approach was used as a classifier for constructing the prediction models. Seventy percent of the nodes were randomly assigned to a training set and the remaining 30% were assigned to an independent test set. The final model was tested on the dataset from the 2 readers, showing a mean accuracy, sensitivity and specificity of 73%, 62% and 82%, respectively, for distinguishing between refractory and non-refractory patients. The area under the receiver operating characteristic curve (AUC) was 0.83 and 0.79 for the two readers. We conclude that machine learning CT-based radiomics analysis is able to identify a priori PTF-DLBCL with a good accuracy. 相似文献
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76.
Cytochemistry of Phosphatases in Myxococcus xanthus 总被引:6,自引:4,他引:2
An Mg(2+)-dependent and a K(+)-stimulated adenosine triphosphatase were localized by cytochemistry at or near both surfaces of the cytoplasmic membrane of Myxococcus xanthus. An alkaline and an acid phosphatase resided at the external surface of the membrane or in the periplasm. All enzymes could be extracted from partially fixed cells with Mg(2+)-deficient buffers. Suboptimal external phosphate elicited dissociation of adenosine triphosphatase from the membrane but not that of the unspecific phosphatases. The dissociated enzymes migrated into the cytoplasm where they were associated mainly with cytoplasmic aggregates. 相似文献
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