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Genetic Instabilities and Neurological Diseases

Genetic Instabilities and Neurological Diseases


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About the Book

Genetic Instabilities and Neurological Diseases covers DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students.

Table of Contents:
Contributors Preface Part I Overview Chapter 1 Overview of the Field Part II Myotonic Dystrophy Chapter 2 Myotonic Dystrophies: An Overview Chapter 3 The RNA-Mediated Disease Process in Myotonic Dystrophy Chapter 4 cis Effects of CTG Expansion in Myotonic Dystrophy Type 1 Chapter 5 Normal and Pathophysiological Significance of Myotonic Dystrophy Protein Kinase Chapter 6 Biochemistry of Myotonic Dystrophy Protein Kinase Chapter 7 Clinical and Genetic Features of Myotonic Dystrophy Type 2 Chapter 8 Myotonic Dystrophy Type 2: Clinical and Genetic Aspects Chapter 9 The Subtelomeric D4Z4 Repeat Instability in Facioscapulohumeral Muscular Dystrophy Part III Fragile X Syndrome Chapter 10 Fragile X Syndrome and Fragile X-Associated Tremor/Ataxia Syndrome Chapter 11 Animal Models of Fragile X Syndrome: Mice and Flies Chapter 12 Chromosomal Fragile Sites: Mechanisms of Cytogenetic Expression and Pathogenic Consequences Part IV Kennedy's Disease Chapter 13 Clinical Features and Molecular Biology of Kennedy's Disease Part V Huntington's Disease Chapter 14 Molecular Pathogenesis and Therapeutic Targets in Huntington's Disease Chapter 15 Molecular Pathogenesis of Huntington's Disease: The Role of Excitotoxicity Chapter 16 Huntington's Disease-like 2 Part VI Friedreich's Ataxia Chapter 17 Friedreich's Ataxia Chapter 18 Experimental Therapeutics for Friedreich's Ataxia Chapter 19 Evolution and Instability of the GAA Triplet-Repeat Sequence in Friedreich's Ataxia Chapter 20 Mouse Models for Friedreich's Ataxia Chapter 21 Triplexes, Sticky DNA, and the (GAA•TTC) Trinucleotide Repeat Associated with Friedreich's Ataxia Part VII Spinocerebellar Ataxias Chapter 22 Phosphorylation of Ataxin-1: A Link between Basic Research and Clinical Application in Spinocerebellar Ataxia Type 1 Chapter 23 Spinocerebellar Ataxia Type 2 Chapter 24 Machado–Joseph Disease/Spinocerebellar Ataxia Type 3 Chapter 25 Spinocerebellar Ataxia Type 6 Chapter 26 Pathogenesis of Spinocerebellar Ataxia Type 7: New Insights from Mouse Models and Ataxin-7 Function Chapter 27 Spinocerebellar Ataxia Type 7: Clinical Features to Cellular Pathogenesis Chapter 28 Molecular Genetics of Spinocerebellar Ataxia Type 8 Chapter 29 Spinocerebellar Ataxia Type 10: A Disease Caused by an Expanded (ATTCT)n Pentanucleotide Repeat Chapter 30 DNA Structures and Genetic Instabilities Associated with Spinocerebellar Ataxia Type 10 (ATTCT)n • (AGAAT)nRepeats Suggest a DNA Amplification Model for Repeat Expansion Chapter 31 Spinocerebellar Ataxia Type 12 Chapter 32 Spinocerebellar Ataxia 17 and Huntington's Disease-like 4 Part VIII Other Polyamino Acid Repeats Chapter 33 Polyalanine and Polyglutamine Diseases: Possible Common Mechanisms? Part IX Biophysics of PolyQ Chapter 34 Chemical and Physical Properties of Polyglutamine Repeat Sequences Part X In Vivo Instability Studies Chapter 35 Somatic Mosaicism of Expanded CAG•CTG Repeats in Humans and Mice: Dynamics, Mechanisms, and Consequences Chapter 36 Transgenic Mouse Models of Unstable Trinucleotide Repeats: Toward an Understanding of Disease-Associated Repeat Size Mutation Part XI Insect Models Chapter 37 Drosophila Models of Polyglutamine Disorders Part XII Instability Mechanisms In Vivo and In Vitro Chapter 38 Involvement of Genetic Recombination in Microsatellite Instability Chapter 39 Bending the Rules: Unusual Nucleic Acid Structures and Disease Pathology in the Repeat Expansion Diseases Chapter 40 Replication of Expandable DNA Repeats Chapter 41 Error-Prone Repair of Slipped (CTG)•(CAG) Repeats and Disease-Associated Expansions Chapter 42 DNA Repair Models for Understanding Triplet Repeat Instability Chapter 43 Models of Repair Underlying Trinucleotide DNA Expansion Chapter 44 Transcription and Triplet Repeat Instability Chapter 45 Structural Characteristics of Trinucleotide Repeats in Transcripts Part XIII Mutations in Flanking Sequences Chapter 46 Gross Rearrangements Caused by Long Triplet and Other Repeat Sequences Part XIV Cancer and Genetic Instability Chapter 47 Microsatellite Instability in Cancer Index

Review :
Praise for the First Edition: "...this presentation provides continued incentive to contribute to understanding the molecular foundation of each unique disease with the hope of insight and new strategies for treatment." - Alan P. Wolfe, Chief, Laboratory of Molecular Embryology, National Institutes of Health "... this is not a journey, it is an odyssey! ... the Wells and Warren book is outstanding. Here, the publishers deserve a pat on the back for the layout, figures (some of which are in colour) and print quality. I simply cannot praise this book enough. My copy will be jealously guarded!" - Jamal Nasir, Department of Molecular Medicine, Western General Hospital, Edinburgh UK


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Product Details
  • ISBN-13: 9780123694621
  • Publisher: Elsevier Science Publishing Co Inc
  • Publisher Imprint: Academic Press Inc
  • Height: 279 mm
  • No of Pages: 784
  • Width: 216 mm
  • ISBN-10: 0123694620
  • Publisher Date: 16 Aug 2006
  • Binding: Hardback
  • Language: English
  • Weight: 1970 gr


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