Free PDF CFTR and Cystic Fibrosis: From Structure to Function (SpringerBriefs in Molecular Science)

Free PDF CFTR and Cystic Fibrosis: From Structure to Function (SpringerBriefs in Molecular Science)

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CFTR and Cystic Fibrosis: From Structure to Function (SpringerBriefs in Molecular Science)

Free PDF CFTR and Cystic Fibrosis: From Structure to Function (SpringerBriefs in Molecular Science)

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From the Back Cover

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.Â

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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”.

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Product details

Series: SpringerBriefs in Molecular Science

Paperback: 76 pages

Publisher: Springer; 1st ed. 2018 edition (October 3, 2017)

Language: English

ISBN-10: 9783319654935

ISBN-13: 978-3319654935

ASIN: 3319654934

Product Dimensions:

6.1 x 0.2 x 9.2 inches

Shipping Weight: 2.9 pounds (View shipping rates and policies)

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Amazon Best Sellers Rank:

#3,460,021 in Books (See Top 100 in Books)

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CFTR and Cystic Fibrosis: From Structure to Function (SpringerBriefs in Molecular Science) PDF

CFTR and Cystic Fibrosis: From Structure to Function (SpringerBriefs in Molecular Science) PDF