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Protein misfolding and human disease.
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2006-05-26 , DOI: 10.1146/annurev.genom.7.080505.115737 Niels Gregersen 1 , Peter Bross , Søren Vang , Jane H Christensen
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2006-05-26 , DOI: 10.1146/annurev.genom.7.080505.115737 Niels Gregersen 1 , Peter Bross , Søren Vang , Jane H Christensen
Affiliation
Protein misfolding is a common event in living cells. In young and healthy cells, the misfolded protein load is disposed of by protein quality control (PQC) systems. In aging cells and in cells from certain individuals with genetic diseases, the load may overwhelm the PQC capacity, resulting in accumulation of misfolded proteins. Dependent on the properties of the protein and the efficiency of the PQC systems, the accumulated protein may be degraded or assembled into toxic oligomers and aggregates. To illustrate this concept, we discuss a number of very different protein misfolding diseases including phenylketonuria, Parkinson's disease, alpha-1-antitrypsin deficiency, familial neurohypophyseal diabetes insipidus, and short-chain acyl-CoA dehydrogenase deficiency. Despite the differences, an emerging paradigm suggests that the cellular effects of protein misfolding provide a common framework that may contribute to the elucidation of the cell pathology and guide intervention and treatment strategies of many genetic and age-dependent diseases.
中文翻译:
蛋白质错误折叠和人类疾病。
蛋白质错误折叠是活细胞中的常见事件。在年轻健康的细胞中,错误折叠的蛋白质负载是由蛋白质质量控制(PQC)系统处理的。在衰老的细胞和某些患有遗传疾病的个体的细胞中,负荷可能会使PQC的能力不堪重负,从而导致错误折叠的蛋白质积聚。根据蛋白质的性质和PQC系统的效率,累积的蛋白质可能会降解或组装成有毒的寡聚物和聚集体。为了说明这一概念,我们讨论了许多非常不同的蛋白质错误折叠疾病,包括苯丙酮尿症,帕金森氏病,α-1-抗胰蛋白酶缺乏症,家族性神经垂体性尿崩症和短链酰基辅酶A脱氢酶缺乏症。尽管有差异,
更新日期:2019-11-01
中文翻译:
蛋白质错误折叠和人类疾病。
蛋白质错误折叠是活细胞中的常见事件。在年轻健康的细胞中,错误折叠的蛋白质负载是由蛋白质质量控制(PQC)系统处理的。在衰老的细胞和某些患有遗传疾病的个体的细胞中,负荷可能会使PQC的能力不堪重负,从而导致错误折叠的蛋白质积聚。根据蛋白质的性质和PQC系统的效率,累积的蛋白质可能会降解或组装成有毒的寡聚物和聚集体。为了说明这一概念,我们讨论了许多非常不同的蛋白质错误折叠疾病,包括苯丙酮尿症,帕金森氏病,α-1-抗胰蛋白酶缺乏症,家族性神经垂体性尿崩症和短链酰基辅酶A脱氢酶缺乏症。尽管有差异,