
Nonsense Mutation Correction in Human Diseases
An Approach for Targeted Medicine
Description
Key Features
- Features basic biological and clinical constructs that inform the application of genomic data to clinical decision-making
- Includes theories and methods that can be used to link bio-molecular and clinical phenotypes so as to enable integrative hypothesis discovery, testing, and downstream evidence-based practice
- Provides design patterns and use cases that contextualize the clinical decision-making and evidence-based practice relative to real world requirements and stakeholders
Readership
Investigators at all levels in biomedicine, molecular biology and biochemistry; graduate and postdoc students in biomed, biology, and life science programs, clinicians interested in learning the underpinnings of personalized medicine
Table of Contents
- About the Authors
- Acknowledgments
- Chapter 1: General Aspects Related to Nonsense Mutations
- Abstract
- 1. Premature termination codon, nonsense mutation, and consequences on gene expression
- 2. Pre-mRNA splicing mechanism
- 3. Nonsense-mediated mRNA decay (NMD) mechanism
- 4. Correction of nonsense mutations, a case of targeted therapy
- Chapter 2: Pathologies Susceptible to be Targeted for Nonsense Mutation Therapies
- Abstract
- 1. Rare diseases
- 2. Frequent diseases
- Chapter 3: Strategies to Correct Nonsense Mutations
- Abstract
- 1. The exon skipping
- 2. Trans-splicing
- 3. PTC-readthrough
- 4. NMD inhibition
- 5. Pseudouridylation at the PTC
- 6. Gene therapy
- 7. Cell therapy
- 8. Genome editing
- 9. Combinatory approaches to improve nonsense mutation therapies
- Chapter 4: Conclusions
- Abstract
- 1. Summary on the different strategies and their results
- 2. Personalized/targeted medicine versus traditional medicine
- 3. Limitations on nonsense mutation therapies and future considerations
- Glossary
- Subject Index
Product details
- No. of pages: 190
- Language: English
- Copyright: © Academic Press 2016
- Published: February 26, 2016
- Imprint: Academic Press
- Paperback ISBN: 9780128044681
- eBook ISBN: 9780128044698
About the Authors
Fabrice Lejeune
Affiliations and Expertise
Hana Benhabiles
Affiliations and Expertise
Jieshuang Jia
Affiliations and Expertise
Ratings and Reviews
Latest reviews
(Total rating for all reviews)
BikashPattnaik Wed Apr 10 2019
Nonsense to sense
This is an absolutely compiled book on nonsense mutation and covers biology and disease and cure.