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 Advances in The Human Side of Service Engineering by Carlos M.  Farinha
Cover of the book Wireless and Satellite Systems by Carlos M.  Farinha
Cover of the book Hydrological Data Driven Modelling by Carlos M.  Farinha
Cover of the book SDL 2015: Model-Driven Engineering for Smart Cities by Carlos M.  Farinha
Cover of the book Information Retrieval by Carlos M.  Farinha
Cover of the book Teaching and Learning in Lower Secondary Schools in the Era of PISA and TIMSS by Carlos M.  Farinha
Cover of the book Environmental Management and Governance by Carlos M.  Farinha
Cover of the book Urban Ecology, Water Quality and Climate Change by Carlos M.  Farinha
Cover of the book Mining Over Air: Wireless Communication Networks Analytics by Carlos M.  Farinha
Cover of the book International Multidisciplinary Microscopy Congress by Carlos M.  Farinha
Cover of the book Laser Pulse Heating of Surfaces and Thermal Stress Analysis by Carlos M.  Farinha
Cover of the book Simulating Crowds in Egress Scenarios by Carlos M.  Farinha
Cover of the book Advances in Mechanical Engineering by Carlos M.  Farinha
Cover of the book Animal Perception and Literary Language by Carlos M.  Farinha
Cover of the book School-University Partnerships in English Language Teacher Education 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