Nonsense Mutation Correction In Human Diseases: An Approach For Targeted Medicine

Paperback | March 14, 2016

byFabrice Lejeune, Hana Benhabiles

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Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of nonsense mutations, the consequences of a nonsense mutation for the expression of the mutant gene, and the presentation of the nonsense-mediated mRNA decay NMD . It presents the mechanism of action and rationale associated with each strategy to correct nonsense mutations with the results of clinical trials to further support this basis. In addition, the book shows how it may be possible to combine several of these strategies to ultimately improve the efficiency of correction, also suggesting the future goals and objectives to improve treatment modalities in this evolving sphere of personalized medicine. 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

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Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of nonsense mutations, the consequences of a nonsense mutation for the expression of the mutant gene, and the presentation of the nonsense-mediated mRNA decay NMD . It presents the mec...

Dr. Fabrice Lejenue studies the mechanisms that regulate or deregulate the quality control of protein synthesis with the aim to one day utilize these mechanisms to chemically treat diseases such as cystic fibrosis, muscular dystrophy and cancer. He studied under Dr. Lynne Maquat, Director, Center for RNA Biology, and the scientist resp...
Format:PaperbackDimensions:190 pages, 8.75 × 6.35 × 0.68 inPublished:March 14, 2016Publisher:Academic PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0128044683

ISBN - 13:9780128044681

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Table of Contents

1. General aspects related to nonsense mutations

2. Pathologies susceptible to be targeted for nonsense mutation therapies

3. Strategies to correct nonsense mutations

4. Conclusions

i. Glossary