伴侣蛋白助骨生成：新型蛋白折叠疾病范例。
Chaperoning osteogenesis: new protein-folding disease paradigms.
机构信息
Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
出版信息
Trends Cell Biol. 2011 Mar;21(3):168-76. doi: 10.1016/j.tcb.2010.11.007. Epub 2010 Dec 21.
Abstract
Recent discoveries of severe bone disorders in patients with deficiencies in several endoplasmic reticulum chaperones are reshaping the discussion of type I collagen folding and related diseases. Type I collagen is the most abundant protein in all vertebrates and a crucial structural molecule for bone and other connective tissues. Its misfolding causes bone fragility, skeletal deformity and other tissue failures. Studies of newly discovered bone disorders indicate that collagen folding, chaperones involved in the folding process, cellular responses to misfolding and related bone pathologies might not follow conventional protein folding paradigms. In this review, we examine the features that distinguish collagen folding from that of other proteins and describe the findings that are beginning to reveal how cells manage collagen folding and misfolding. We discuss implications of these studies for general protein folding paradigms, unfolded protein response in cells and protein folding diseases.
摘要
近年来，人们发现几种内质网伴侣蛋白缺乏症患者存在严重的骨骼疾病，这正在重新引发对 I 型胶原折叠和相关疾病的讨论。I 型胶原是所有脊椎动物中最丰富的蛋白质，也是骨骼和其他结缔组织的关键结构分子。其错误折叠会导致骨骼脆弱、骨骼畸形和其他组织衰竭。对新发现的骨骼疾病的研究表明，胶原折叠、参与折叠过程的伴侣蛋白、细胞对错误折叠的反应以及相关的骨骼病理学可能不符合传统的蛋白质折叠范例。在这篇综述中，我们检查了将胶原折叠与其他蛋白质区分开来的特征，并描述了开始揭示细胞如何管理胶原折叠和错误折叠的发现。我们讨论了这些研究对一般蛋白质折叠范例、细胞未折叠蛋白反应和蛋白质折叠疾病的影响。
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