Coatopathies:蛋白质Coats的遗传性疾病。

IF 11.4 1区 生物学 Q1 CELL BIOLOGY
E. C. Dell'Angelica, J. Bonifacino
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引用次数: 53

摘要

蛋白质外壳是一种超分子复合物,组装在膜的胞质表面,以促进真核细胞内膜系统中货物分拣和运输载体的形成。已经描述了几种类型的蛋白质外壳,包括在子宫内膜系统的不同阶段起作用的COPI、COPII、AP-1、AP-2、AP-3、AP-4、AP-5和逆转录酶。这些涂层中的缺陷损害了特定的运输途径,损害了细胞的功能和活力。在人类中,这些外壳亚基的突变会导致各种先天性疾病,统称为外壳病。在这篇文章中,我们综述了蛋白质外壳的基本特性以及由其组成亚基突变引起的疾病。《细胞与发育生物学年度评论》第35卷预计最终在线出版日期为2019年10月7日。请参阅http://www.annualreviews.org/page/journal/pubdates用于修订估算。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Coatopathies: Genetic Disorders of Protein Coats.
Protein coats are supramolecular complexes that assemble on the cytosolic face of membranes to promote cargo sorting and transport carrier formation in the endomembrane system of eukaryotic cells. Several types of protein coats have been described, including COPI, COPII, AP-1, AP-2, AP-3, AP-4, AP-5, and retromer, which operate at different stages of the endomembrane system. Defects in these coats impair specific transport pathways, compromising the function and viability of the cells. In humans, mutations in subunits of these coats cause various congenital diseases that are collectively referred to as coatopathies. In this article, we review the fundamental properties of protein coats and the diseases that result from mutation of their constituent subunits. Expected final online publication date for the Annual Review of Cell and Developmental Biology, Volume 35 is October 7, 2019. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
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来源期刊
CiteScore
19.50
自引率
0.00%
发文量
21
期刊介绍: The Annual Review of Cell and Developmental Biology, established in 1985, comprehensively addresses major advancements in cell and developmental biology. Encompassing the structure, function, and organization of cells, as well as the development and evolution of cells in relation to both single and multicellular organisms, the journal explores models and tools of molecular biology. As of the current volume, the journal has transitioned from gated to open access through Annual Reviews' Subscribe to Open program, making all articles published under a CC BY license.
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