rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: Nonsense mutation correction in human diseases
    sub title: an approach for targeted medicine
  name:
    name part: Benhabiles, Hana
    role:
      role term: creator
    role:
      role term: author.
  name:
    name part: Jia, Jieshuang
    role:
      role term: author.
  name:
    name part: Lejeune, Fabrice
    role:
      role term: author.
  name:
    name part: ScienceDirect (Online service)
  type of resource: text
  genre: bibliography
  genre: Electronic books.
  origin info:
    place:
      place term: enk
    date issued: 2016
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: remote
    extent: 1 online resource (ix, 180 pages)
  abstract: 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.
  table of contents: 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.
  table of contents: 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.
  table of contents: 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.
  table of contents: 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.
  table of contents: 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.
  table of contents: 2 -- Personalized/targeted medicine versus traditional medicine.
  note: Hana Benhabiles, Jieshuang Jia, Fabrice Jejeune.
  note: Includes bibliographical references and index.
  subject:
    topic: Genetic disorders
  subject:
    topic: Mutation (Biology)
  subject:
    topic: Targeted Gene Repair
  subject:
    topic: Genetic Diseases, Inborn
  subject:
    topic: Mutation
  subject:
    topic: Codon, Nonsense
  subject:
    topic: Nonsense Mediated mRNA Decay
  subject:
    topic: Maladies génétiques
  subject:
    topic: Mutation (Biologie)
  subject:
    topic: HEALTH & FITNESS
    topic: Diseases
    topic: General
  subject:
    topic: MEDICAL
    topic: Clinical Medicine
  subject:
    topic: MEDICAL
    topic: Diseases
  subject:
    topic: MEDICAL
    topic: Evidence-Based Medicine
  subject:
    topic: MEDICAL
    topic: Internal Medicine
  subject:
    topic: Genetic disorders
  subject:
    topic: Mutation (Biology)
  classification: RB155.5
  classification: 616/.042
  classification: 2016 F-595
  classification: QU 560
  related item:
    title info:
      title: Nonsense mutation correction in human diseases
    name:
      name part: Benhabiles, Hana.
    origin info:
      publisher: London : Acedemic Press is an imprint of Elsevier, [2016]
    identifier: (OCoLC)946815702
  identifier: 9780128044698
  identifier: 0128044691
  identifier: 9780128044681
  identifier: 0128044683
  identifier: http://proxy.library.tamu.edu/login
  record info:
    record content source: N$T
    record creation date: 160302
    record change date: 20260327150238.5
    record identifier: in00005760318
    language of cataloging:
      language term: eng