{"title":"Coatopathies:蛋白质Coats的遗传性疾病。","authors":"E. C. Dell'Angelica, J. Bonifacino","doi":"10.1146/annurev-cellbio-100818-125234","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":7944,"journal":{"name":"Annual review of cell and developmental biology","volume":" ","pages":""},"PeriodicalIF":11.4000,"publicationDate":"2019-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-cellbio-100818-125234","citationCount":"53","resultStr":"{\"title\":\"Coatopathies: Genetic Disorders of Protein Coats.\",\"authors\":\"E. C. Dell'Angelica, J. Bonifacino\",\"doi\":\"10.1146/annurev-cellbio-100818-125234\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":7944,\"journal\":{\"name\":\"Annual review of cell and developmental biology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":11.4000,\"publicationDate\":\"2019-10-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1146/annurev-cellbio-100818-125234\",\"citationCount\":\"53\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annual review of cell and developmental biology\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1146/annurev-cellbio-100818-125234\",\"RegionNum\":1,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CELL BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annual review of cell and developmental biology","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1146/annurev-cellbio-100818-125234","RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
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.
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.