Cargando…
Nonsense mutation correction in human diseases : an approach for targeted 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...
| Clasificación: | Libro Electrónico |
|---|---|
| Autores principales: | , , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
London :
Acedemic Press is an imprint of Elsevier,
[2016]
|
| Temas: | |
| Acceso en línea: | Texto completo |
Tabla de Contenidos:
- 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.