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Books in Mutagenesis

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Nonsense Mutation Correction in Human Diseases

  • 1st Edition
  • February 26, 2016
  • Fabrice Lejeune + 2 more
  • English
  • Paperback
    9 7 8 - 0 - 1 2 - 8 0 4 4 6 8 - 1
  • eBook
    9 7 8 - 0 - 1 2 - 8 0 4 4 6 9 - 8
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.

Genetic Aberrancies and Neurodegenerative Disorders

  • 1st Edition
  • Volume 3
  • January 28, 2000
  • M.P. Mattson
  • English
  • eBook
    9 7 8 - 0 - 0 8 - 0 8 7 6 7 3 - 3
Genetic Aberrancies and Neurodegenerative Disorders presents critical reviews and emerging findings concerning the roles of genetic mutations and polymorphisms in the pathogenesis of a range of neurological disorders including Alzheimer's and Parkinson's diseases, trinucleotide repeat disorders, stroke, epilepsy and others. This volume, written by leading experts, brings together fundamental information concerning the roles of inherited traits in the pathogenesis of different neurodegenerative disorders. In addition to providing a catalogue of the known genetic alterations that are linked to specific neurodegenerative disorders, the chapters detail the current state of understanding of the cellular and biochemical mechanisms whereby the genetic aberrancies lead to neuronal dysfunction and degeneration. The emerging picture of each disorder, painted by pathological, biochemical and molecular brushes, suggests that they share key mechanisms including increased levels of oxidative stress, perturbed ion homeostasis, mitochondrial dysfunction and apoptotic proteolytic cascades. The existence of specific molecular defects provides the opportunity to design experiments that can establish the precise pathogenic mechanism of a specific mutation or genetic risk factor. The value of this approach is exemplified by recent studies of how mutations in Cu/Zn-superoxide dismutase cause amyotrophic lateral sclerosis and how presenilin mutations result in early-onset Alzheimer's disease. A theme developed among the different chapters is that events that occur during aging predispose neurons to genetic aberrancies that promote degenerative cascades, and that specific genetic defects exert their influence on particular populations of neurons in a disorder-specific manner. The chapters in this volume will stimulate readers to generate new hypotheses concerning the pathogenic mechanisms of genetic aberrancies that can be experimentally tested.

Handbook of Mutagenicity Test Procedures

  • 2nd Edition
  • January 1, 1984
  • B.J. Kilbey + 3 more
  • English
  • eBook
    9 7 8 - 0 - 4 4 4 - 6 0 0 9 8 - 1
The compilation of this book was prompted by the necessity of a bench volume which could provide the necessary background information on materials, experimental design, pitfalls and dificulties, in order to perform a particular test in an acceptable way with a minimal need for additional expert help. This Second Edition updates this information, providing: - a comprehensive bench guide - methods known to be reliable - a broad spectrum of approaches - tips to avoid pitfalls when using unfamiliar techniques - data from population records - safety aspects of mutagens and carcinogens - basic statistical concepts for experiment design This `on the bench' methodological text provides the necessary information for most of the common assays for genetic damage in use. The book includes methods which have been sufficiently used and tested to make their use reliable, but also presents methods which are not widely used at present, but which might prove most useful in screening for mutagenic effects.