Cystic Fibrosis: Diagnosis and Protocols, Volume 1: Approaches to Study and Correct CFTR Defects

ISBN-13: 9781493957873 / Angielski / Miękka / 2016 / 528 str.

Margarida D. Amaral; Karl Kunzelmann

Opis

This volume details the cystic fibrosis transmembrane conductance regulator and its expression, biogenesis, structure and function in terms of the defects causing cystic fibrosis. It features readily reproducible laboratory protocols and troubleshooting tips.

Recenzje

From the reviews:

"Summarize the current complex information on cystic fibrosis (CF) and the innovative new technologies available to basic scientists involved in the study of CF. ... This detailed book is aimed at basic research scientists and academicians working on CF. The protocols would be of use to graduate students and postdoctoral fellows as well. ... technology described would be invaluable to clinical laboratories involved in the diagnosis of CF. This represents a must-have guide for research laboratories working on the functional mechanisms of the CFTR gene." (Luis F. Escobar, Doody's Book Reviews, March, 2012)

Spis treści

Part I: Strategies to Correct the Basic Defect in CF and Assess Efficacy in Human Clinical Trials

 

1. Introduction to Part I: The Relevance of CF Diagnostic Tools for Measuring Restoration of CFTR Function after Therapeutic Interventions in Human Clinical Trials

            Kris De Boeck and Melissa Ashlock

 

2. High-Throughput Screening of Libraries of Compounds to Identify CFTR Modulators

            Nicoletta Pedemonte, Olga Zegarra-Moran, and Luis J.V. Galietta

 

3. Repair of CFTR Folding Defects with Correctors that Function as Pharmacological Chaperones

            Tip W. Loo and David M. Clarke

 

4. Use of Primary Cultures of Human Bronchial Epithelial Cells Isolated from Cystic Fibrosis Patients for the Pre-Clinical Testing of CFTR Modulators

            Tim Neuberger, Bill Burton, Heather Clark, and Fredrick Van Goor

 

5. Design of Gene Therapy Trials in CF Patients

            Jane C. Davies and Eric W.F.W. Alton

 

6. Nasal Potential Difference Measurements to Assess CFTR Ion Channel Activity

            Steven M. Rowe, Jean-Paul Clancy, and Michael Wilschanski

 

7. Measurement of Ion Transport Function in Rectal Biopsies

            Martin J. Hug, Nico Derichs, Inez Bronsveld, and Jean Paul Clancy

 

Part II: RNA Methods to Approach CFTR Expression

 

8. Introduction to Part II: RNA Methods to Approach CFTR Expression

            Ann Harris

 

9. Quantification of CFTR Transcripts

            Anabela S. Ramalho, Luka A. Clarke, and Margarida D. Amaral

 

10. Nonsense-Mediated mRNA Decay and Cystic Fibrosis

            Liat Linde and Batsheva Kerem

 

11. Approaches to Study CFTR Pre-mRNA Splicing Defects

            Elisa Goina, Eugenio Fernandez-Alanis, and Franco Pagani

 

12. Impact of MicroRNA in Normal and Pathological Respiratory Epithelia

            Lisa Giovannini-Chami, Nathalie Grandvaux, Laure-Emmanuelle Zaragosi, Karine Robbe-Sermesant, Brice Marcet, Bruno Cardinaud, Christelle Coraux, Yves Berthiaume, Rainer Waldmann, Bernard Mari, and Pascal Barbry

 

13. Genomic Approaches to Studying CFTR Transcriptional Regulation

            Christopher J. Ott and Ann Harris

 

Part III: CFTR Protein Biogenesis, Folding, Degradation, and Traffic

 

14. Introduction to Part III: Biochemical Methods to Study CFTR Protein

            Margarida D. Amaral and Gergely L. Lukacs

 

15. Analysis of CFTR Folding and Degradation in Transiently Transfected Cells

            Diane E. Grove, Meredith F. N. Rosser, Richard L. Watkins, and Douglas M. Cyr

 

16. In Vitro Methods for CFTR Biogenesis

            Yoshihiro Matsumura, LeeAnn Rooney, and William R. Skach

 

17. Analysis of CFTR Interactome in the Macromolecular Complexes

            Chunying Li and Anjaparavanda P. Naren

 

18. Methods to Monitor Cell Surface Expression and Endocytic Trafficking of CFTR in Polarized Epithelial Cells

            Jennifer M. Bomberger, William B. Guggino, and Bruce A. Stanton

 

19. Segmental and Subcellular Distribution of CFTR in the Kidney

            François Jouret, Pierre J. Courtoy, and Olivier Devuyst

 

20. Endocytic Sorting of CFTR Variants Monitored by Single Cell Fluorescence Ratio Image Analysis (FRIA) in Living Cells

            Herve Barrière, Pirjo Apaja, Tsukasa Okiyoneda, and Gergely L. Lukacs

 

Part IV: CFTR Structure

 

21. Introduction to Part IV: Biophysical Methods to Approach CFTR Structure

            Juan L. Mendoza, André Schmidt, and Philip J. Thomas

 

22. CFTR Three-Dimensional Structure

            Robert C. Ford, James Birtley, Mark F. Rosenberg, and Liang Zhang

 

23. Molecular Modeling Tools and Approaches for CFTR and Cystic Fibrosis

            Adrian W.R. Serohijos, Patrick H. Thibodeau, and Nikolay V. Dokholyan

 

24. Biochemical and Biophysical Approaches to Probe CFTR Structure

            André Schmidt, Juan L. Mendoza, and Philip J. Thomas

 

25. NMR Spectroscopy to Study the Dynamics and Interactions of CFTR

            Voula Kanelis, P. Andrew Chong, and Julie D. Forman-Kay

 

Part V: CFTR Function

 

26. Introduction to Part V: Assessment of CFTR Function

            Karl Kunzelmann

 

27. Application of High-Resolution Single-Channel Recording to Functional Studies of Cystic Fibrosis Mutants

            Zhiwei Cai, Yoshiro Sohma, Silvia G. Bompadre, David N. Sheppard, and Tzyh-Chang Hwang

 

28. Electrophysiological, Biochemical, and Bioinformatic Methods for Studying CFTR Channel Gating and Its Regulation

            László Csanády, Paola Vergani, Attila Gulyás-Kovács, and David C. Gadsby

 

29. CFTR Regulation by Phosphorylation

            Rodrigo Alzamora, J. Darwin King, Jr., and Kenneth R. Hallows

 

30. How to Measure CFTR-Dependent Bicarbonate Transport: From Single Channels to the Intact Epithelium

            Martin J. Hug, Lane L. Clarke, and Michael A. Gray

Blurb

Despite the many milestones in cystic fibrosis (CF) research, progress towards curing the disease has been slow, and it is increasingly difficult to grasp and use the already wide and still growing range of diverse methods currently employed to study CF so as to understand it in its multidisciplinary nature.  Cystic Fibrosis: Diagnosis and Protocols aims to provide the CF research community and related researchers with a very wide range of high-quality experimental tools, as an easy way to grasp and use classical and novel methods applied to cystic fibrosis.  Volume I: Approaches to Study and Correct CFTR Defects focuses on the cystic fibrosis transmembrane conductance regulator (CFTR) and its expression, biogenesis, structure, and function in terms of the defects causing CF.  Written in the highly successful Methods in Molecular Biology™ series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.

 

Comprehensive and practical, Cystic Fibrosis: Diagnosis and Protocols will provide readers with optimal working tools to address pressing questions in the best technical way, while helping all of us, as a research and clinical community, to move faster hand-in-hand toward unravelling the secrets of this challenging disorder and cure it.