Role of Endosomes and Lysosomes in Human Disease
Role of Endosomes and Lysosomes in Human Disease
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DOI：
10.1101/cshperspect.a016931
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发表时间：
2014-05-01
影响因子：
7.2
通讯作者：
Maxfield, Frederick R.
中科院分区：
文献类型：
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作者：
Maxfield, Frederick R.
除了在正常细胞生理学中的作用外，内吞过程在许多疾病中起关键作用。在这篇综述中，三种疾病作为内吞过程在疾病中的作用的例子进行了讨论。通过LDL摄取胆固醇是我们理解动脉粥样硬化的核心，对这种疾病的研究导致了对受体介导的内吞作用的许多关键突破。随着人口老龄化，阿尔茨海默病是一个日益严重的负担。内体和溶酶体在与阿尔茨海默病相关的淀粉样纤维的形成和降解中起重要作用，但仅部分了解。遗传性溶酶体贮积病在个体上是罕见的，但它们共同影响许多个体。最近的进展导致酶替代疗法的改进，也导致小分子药物来治疗其中一些疾病。
In addition to their roles in normal cell physiology, endocytic processes play a key role in many diseases. In this review, three diseases are discussed as examples of the role of endocytic processes in disease. The uptake of cholesterol via LDL is central to our understanding of atherosclerosis, and the study of this disease led to many of the key breakthroughs in understanding receptor-mediated endocytosis. Alzheimer's disease is a growing burden as the population ages. Endosomes and lysosomes play important but only partially understood roles in both the formation and the degradation of the amyloid fibrils that are associated with Alzheimer's disease. Inherited lysosomal storage diseases are individually rare, but collectively they affect many individuals. Recent advances are leading to improved enzyme replacement therapy and are also leading to small-molecule drugs to treat some of these diseases.