共查询到20条相似文献,搜索用时 7 毫秒
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Hesselink RP Wagenmakers AJ Drost MR Van der Vusse GJ 《Biochimica et biophysica acta》2003,1637(2):164-170
The importance of proper lysosomal activity in cell and tissue homeostasis is underlined by "experiments of nature", i.e. genetic defects in one of the at least 40 lysosomal enzymes/proteins present in the human cell. The complete lack of 1-4 alpha-glucosidase (glycogen storage disease type II (GSD II) or Pompe disease) is life-threatening. Patients suffering from GSD II commonly die before the age of 2 years because of cardiorespiratory insufficiency. Striated muscle cells appear to be particularly vulnerable in GSD II. The high cytoplasmic glycogen content in muscle cells most likely gives rise to a high rate of glycogen engulfment by the lysosomes. The polysaccharides become subsequently trapped in these organelles when 1-4 alpha-glucosidase activity is absent. During the course of the disease, muscle wasting occurs. It is hypothesised that the gradual loss of muscle mass is caused by a combination of disuse atrophy and lipofuscine-mediated apoptosis of myocytes. Moreover, we hypothesise that in the remaining skeletal muscle cells, longitudinal transmission of force is hampered by swollen lysosomes, clustering of non-contractile material and focal regions with degraded contractile proteins, which results in muscle weakness. 相似文献
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H Kern 《Analytical biochemistry》1975,67(1):147-156
Fractionation of nucleic acids with potassium acetate is useful for studying the synthesis of ribosomal RNA and messenger RNA. By quantitative removal of 4 and 5 s RNA and of DNA, the detection of messenger RNA is facilitated. 相似文献
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Alpha-1-antitrypsin (PI) phenotypes were studied in a sample of more than 5,000 individuals from cities throughout France. Special interest was paid to the PI*Z allele whose average frequency, based on the present work plus results from the literature, was 0.0130. This figure was used to estimate the number of PI Z homozygotes in France. In accordance with previous studies, the frequency of the PI*S allele was found to increase towards the southern parts of France. 相似文献
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