Role of Endosomes and Lysosomes in Human Disease

被引:86
作者
Maxfield, Frederick R. [1 ]
机构
[1] Weill Cornell Med Coll, Dept Biochem, New York, NY 10065 USA
基金
美国国家卫生研究院;
关键词
ENZYME-REPLACEMENT THERAPY; AMYLOID BETA-PEPTIDE; ALZHEIMERS-DISEASE; PROTEIN TRAFFICKING; DEGRADATION; CHOLESTEROL; RECEPTORS; DEFICIENT; PATHOLOGY; REQUIRES;
D O I
10.1101/cshperspect.a016931
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
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.
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页数:15
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