06556cam a2200745Ii 4500 485856 485856 ocn942588150 US-DLC 20171205143752.0 m d cr cnu|||unuuu 160302s2016 enk ob 001 0 eng d 9780128044698 electronic bk. 0128044691 electronic bk. 9780128044681 0128044683 GBVCP 856077038 (OCoLC)942588150 (OCoLC)944382070 (OCoLC)945612153 (OCoLC)957679837 (OCoLC)957953962 (OCoLC)958097141 (OCoLC)958392020 N$T eng rda pn N$T IDEBK N$T OPELS OCLCF YDX YDXCP EBLCP D6H Alfaisal Main Library RB155.5 .B45 2016 Benhabiles, Hana, author. Nonsense mutation correction in human diseases : an approach for targeted medicine / Hana Benhabiles, Jieshuang Jia, Fabrice Jejeune. 2016. London : Acedemic Press is an imprint of Elsevier, [2016] (ix, 180 pages) text txt rdacontent computer c rdamedia online resource cr rdacarrier Includes bibliographical references and index. Cover; Title Page; Copyright Page; Contents; About the Authors; Acknowledgments; Chapter 1 -- General Aspects Related to Nonsense Mutations; 1 -- Premature termination codon, nonsense mutation, and consequences on gene expression; 2 -- Pre-mRNA splicing mechanism; 2.1 -- Generalities; 2.2 -- Categories of Alternative Splicing; 2.3 -- Regulation of Splicing; 2.4 -- Pathologies Associated with Splicing Defaults; 3 -- Nonsense-mediated mRNA decay (NMD) mechanism; 3.1 -- Generalities; 3.2 -- Main proteins involved in NMD; 3.2.1 -- UPF1/RENT1/SMG2; 3.2.2 -- UPF2/RENT2/SMG3; 3.2.3 -- UPF3/UPF3a/Rent3A 3.2.4 -- UPF3X/UPF3b/Rent3B3.2.5 -- Suppressor of Morphogenesis in Genitalia 1 (SMG1)/ATX/Lambda-Iota Protein Kinase C-Interacting Protein (LIP); 3.2.6 -- SMG5/EST1B; 3.2.7 -- SMG6/EST1A/hSmg5/7a; 3.2.8 -- SMG7/EST1C; 3.2.9 -- SMG8/Amplified in Breast Cancer Gene 2 and SMG9; 3.3 -- EJC-Dependent Model; 3.4 -- Model Involving the Distance Between the Stop Codon and the Position of the poly(A) Binding Protein C1; 3.5 -- Natural Substrates of NMD; 3.6 -- Regulation; 3.6.1 -- Autoregulation; 3.6.2 -- Tissue Specificity; 3.6.3 -- Inhibition During Apoptosis; 3.6.4 -- miRNA; 3.6.5 -- Phosphorylation 3.6.6 -- Regulation by Availability of NMD Factors3.7 -- UPF2, UPF3X/UPF3b Independent Pathway; 3.8 -- Pathologies Associated with NMD Defaults; 4 -- Correction of nonsense mutations, a case of targeted therapy; References; Chapter 2 -- Pathologies Susceptible to be Targeted for Nonsense Mutation Therapies; 1 -- Rare diseases; 1.1 -- Duchenne Muscular Dystrophy (DMD); 1.2 -- Cystic Fibrosis (CF); 1.3 -- Spinal Muscular Atrophy; 2 -- Frequent diseases; 2.1 -- Cancers; 2.2 -- Metabolic Diseases; 2.3 -- Neurologic Disorders; References; Chapter 3 -- Strategies to Correct Nonsense Mutations 1 -- The exon skipping1.1 -- Principle; 1.2 -- Examples; 1.3 -- Weaknesses; 2 -- Trans-splicing; 2.1 -- Principle; 2.2 -- An Example of Trans-Splicing Used as Therapeutic Approach for Duchenne Muscular Dystrophy; 2.3 -- Weaknesses; 3 -- PTC-readthrough; 3.1 -- Principle; 3.1.1 -- Aminoglycoside Molecules; 3.1.2 -- Nonaminoglycoside Molecules; 3.2 -- Weaknesses; 4 -- NMD inhibition; 4.1 -- Principle; 4.2 -- Examples; 4.3 -- Weaknesses; 5 -- Pseudouridylation at the PTC; 5.1 -- Principle; 5.2 -- Weaknesses; 6 -- Gene therapy; 6.1 -- Principle; 6.2 -- Weaknesses; 7 -- Cell therapy; 7.1 -- Principle; 7.2 -- Weaknesses 8 -- Genome editing8.1 -- Zinc Finger Nucleases; 8.1.1 -- Weaknesses; 8.2 -- Transcription Activator-Like Effector Nucleases; 8.2.1 -- Weaknesses; 8.3 -- CRISPR/Cas9; 8.3.1 -- Illustration; 8.3.2 -- Weaknesses; 9 -- Combinatory approaches to improve nonsense mutation therapies; 9.1 -- Activation of Both Transcription and Readthrough; 9.2 -- Inhibition of NMD and Activation of Readthrough; 9.3 -- Gene Therapy/Genome Editing/Pseudouridylation at the PTC and Cell Therapy; References; Chapter 4 -- Conclusions; 1 -- Summary on the different strategies and their results 2 -- Personalized/targeted medicine versus traditional medicine 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. Elsevier ScienceDirect All Books OCLC WorldCat Holdings Genetic disorders. Mutation (Biology) HEALTH & FITNESS / Diseases / General bisacsh MEDICAL / Clinical Medicine bisacsh MEDICAL / Diseases bisacsh MEDICAL / Evidence-Based Medicine bisacsh MEDICAL / Internal Medicine bisacsh Genetic disorders. fast Mutation (Biology) fast Genetic Diseases, Inborn. Print books. local 4 Jia, Jieshuang, author. Lejeune, Fabrice, author. Original 9780128044681 0128044683 (OCoLC)946815702 lcc BOOKS 0 0 lcc 0 0 AU AU GEN 2017-04-17 0 RB155.5 .B45 2016 AU0000000009416 2017-04-17 00:00:00 715.00 2017-04-17 BOOKS