CFTR and Cystic Fibrosis

From Structure to Function

Nonfiction, Science & Nature, Science, Chemistry, Clinical, Biological Sciences, Biochemistry
Cover of the book CFTR and Cystic Fibrosis by Carlos M.  Farinha, Springer International Publishing
View on Amazon View on AbeBooks View on Kobo View on B.Depository View on eBay View on Walmart
Author: Carlos M. Farinha ISBN: 9783319654942
Publisher: Springer International Publishing Publication: October 1, 2017
Imprint: Springer Language: English
Author: Carlos M. Farinha
ISBN: 9783319654942
Publisher: Springer International Publishing
Publication: October 1, 2017
Imprint: Springer
Language: English

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. 

View on Amazon View on AbeBooks View on Kobo View on B.Depository View on eBay View on Walmart

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. 

More books from Springer International Publishing

Cover of the book Creating Reusable Learning Objects by Carlos M.  Farinha
Cover of the book European Perspectives on the Common European Sales Law by Carlos M.  Farinha
Cover of the book REACH Beyond Borders by Carlos M.  Farinha
Cover of the book Fundamental Issues of Artificial Intelligence by Carlos M.  Farinha
Cover of the book The Sudoku Effect: Universities in the Vicious Circle of Bureaucracy by Carlos M.  Farinha
Cover of the book Physically Unclonable Functions by Carlos M.  Farinha
Cover of the book The Origin of Life Patterns by Carlos M.  Farinha
Cover of the book GeNeDis 2014 by Carlos M.  Farinha
Cover of the book Democratisation and Institutional Reform in Albania by Carlos M.  Farinha
Cover of the book The Political Economy of Normative Trade Power Europe by Carlos M.  Farinha
Cover of the book Resisting Violence by Carlos M.  Farinha
Cover of the book Descriptive Topology and Functional Analysis by Carlos M.  Farinha
Cover of the book Child Street Life by Carlos M.  Farinha
Cover of the book Autoethnographies on the Environment and Human Health by Carlos M.  Farinha
Cover of the book Mitochondrial Biology and Experimental Therapeutics by Carlos M.  Farinha
We use our own "cookies" and third party cookies to improve services and to see statistical information. By using this website, you agree to our Privacy Policy