CFTR and Cystic Fibrosis / SpringerBriefs in Molecular Science (PDF)
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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 andanchoring, 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 defect, most of which aim at repairing CFTR dysfunction, are covered.
Through this integrated perspective, readers will obtain a unique insight into this fascinating membrane-bound protein and its associated disease. This Brief appeals to an audience interested in human genetics, protein folding, protein trafficking and physiology.
- Autor: Carlos M. Farinha
- 2017, 1st ed. 2018, 56 Seiten, Englisch
- Verlag: Springer-Verlag GmbH
- ISBN-10: 3319654942
- ISBN-13: 9783319654942
- Erscheinungsdatum: 01.10.2017
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- Grösse: 1.73 MB
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