| 书目名称 | CFTR and Cystic Fibrosis | | 副标题 | From Structure to Fu | | 编辑 | Carlos M.‘Farinha | | 视频video | | | 概述 | Discusses the relationship between the CFTR protein and cystic fibrosis.Explains how the protein structure and structure-defects affect the function of CFTR.Presents CFTR-based and independent therapi | | 丛书名称 | SpringerBriefs in Molecular Science | | 图书封面 |  | | 描述 | .This Brief is devoted to the CFTR protein and cystic fibrosis, and it provides an updated perspective of the genetic, functional and cellular processes involved in this conformational disorder. Starting with a historical perspective on cystic fibrosis and its clinical features, the author departs into an in-depth description of the biology of the CFTR protein, ending with a discussion on the latest approaches aimed at developing corrective therapies for cystic fibrosis..First the basic aspects of cystic fibrosis as a disorder are addressed, focusing on genetics and mutation prevalence. Then the CFTR protein is discussed in detail: its structure and classification within the ABC transporter superfamily, its biogenesis with membrane insertion and chaperone assisted folding, its glycosylation and how it regulates the endoplasmatic reticulum quality control mechanisms that assess CFTR folding status. Extra attention is given to post-ER trafficking and regulation of membrane stability and anchoring, and to CFTR functions. This is linked to the molecular mechanisms through which different CFTR mutations cause cystic fibrosis. Finally, the different efforts aiming at rescuing the basic d | | 出版日期 | Book 2018 | | 关键词 | CFTR; cystic Fibrosis; protein folding; protein trafficking; membrane proteins; ion channels; ABC transpor | | 版次 | 1 | | doi | https://doi.org/10.1007/978-3-319-65494-2 | | isbn_softcover | 978-3-319-65493-5 | | isbn_ebook | 978-3-319-65494-2Series ISSN 2191-5407 Series E-ISSN 2191-5415 | | issn_series | 2191-5407 | | copyright | The Author(s) 2018 |
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发表于 2025-3-21 18:54:28
