Overview
- 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 therapies to correct the basic defect
Part of the book series: SpringerBriefs in Molecular Science (BRIEFSMOLECULAR)
Part of the book sub series: Protein Folding and Structure (BRIEFSPROTEIN)
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Table of contents (1 chapter)
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Front Matter
Keywords
About this book
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 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.
Authors and Affiliations
About the author
Carlos M Farinha obtained his Ph.D. (2003) and Habilitation (2015) in Biochemistry from the University of Lisbon. He has worked at the National Institute of Health Dr. Ricardo Jorge and at the Faculty of Sciences, University of Lisbon with training periods at the Johns Hopkins University School of Medicine, Baltimore, MD, USA and at the University of Pittsburgh School of Medicine – Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA. Currently, he is Assistant Professor with habilitation at the Faculty of Sciences, University of Lisbon, and Principal Investigator at BioISI – Biosystems and Integrative Sciences Institute. His research focuses on the molecular mechanisms of cystic fibrosis (CF), in particular the endoplasmic reticulum retention and early degradation of CFTR’s most common mutant and characterization of the role of CFTR interacting proteins. He received the 2012 ERS Romain Pauwels Research Award from the European Respiratory Society for “research into the different aspects of CFTR biology”.
Bibliographic Information
Book Title: CFTR and Cystic Fibrosis
Book Subtitle: From Structure to Function
Authors: Carlos M. Farinha
Series Title: SpringerBriefs in Molecular Science
DOI: https://doi.org/10.1007/978-3-319-65494-2
Publisher: Springer Cham
eBook Packages: Chemistry and Materials Science, Chemistry and Material Science (R0)
Copyright Information: The Author(s) 2018
Softcover ISBN: 978-3-319-65493-5Published: 11 October 2017
eBook ISBN: 978-3-319-65494-2Published: 01 October 2017
Series ISSN: 2191-5407
Series E-ISSN: 2191-5415
Edition Number: 1
Number of Pages: XVIII, 56
Number of Illustrations: 10 illustrations in colour
Topics: Medicinal Chemistry, Protein Structure, Pneumology/Respiratory System, Human Genetics, Molecular Medicine