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.
Rezensionen / Stimmen
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
Auflage
Sprache
Verlagsort
Verlagsgruppe
Elsevier Science Publishing Co Inc
Zielgruppe
Für Beruf und Forschung
Neurologists, neuroscientists, biochemists, geneticists, biophysicists, cell biologists, molecular biologists, human geneticists, pathologists, cancer researchers, tumor biologists, researchers developing standards for disease analysis, and patient advocacy groups.
Editions-Typ
Illustrationen
Approx. 200 illustrations (50 in full color)
Maße
Höhe: 279 mm
Breite: 216 mm
Gewicht
ISBN-13
978-0-12-369462-1 (9780123694621)
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
Schweitzer Klassifikation
Herausgeber*in
Texas A&M University, Houston, U.S.A.
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
