Overview

This book summarizes the current knowledge on the molecular bases for human inherited diseases associated with unstable mutations. Five chapters describe molecular mechanisms that destabilize normal regions of DNA and explain how repetitive elements cause such diseases. The book provides a balanced, objective account on all aspects and types of unstable mutations. The reader will find a solid background on how these mutations initiate unusual molecular pathways through DNA, RNA, and proteins. The book is designed to serve as a quick and comprehensive reference work for a broad audience including professors, researchers, students, and anyone with an interest in molecular medicine.

Full Product Details

Author:   Lubov T. Timchenko
Publisher:   Springer Science+Business Media
Imprint:   Kluwer Academic/Plenum Publishers
Edition:   2002 ed.
Volume:   516
Dimensions:   Width: 17.80cm , Height: 1.30cm , Length: 25.40cm
Weight:   1.060kg
ISBN:  

9780306474170

ISBN 10:   0306474174
Pages:   121
Publication Date:   31 January 2003
Audience:   College/higher education ,  Undergraduate
Format:   Hardback
Publisher's Status:   Active
Availability:   In Print  
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Table of Contents

1. Molecular Mechanisms of TRS Instability.- Secondary DNA Structures as a Source of TRS Instability.- Summary.- 2. Myotonic Dystrophy: Discussion of Molecular Basis.- DM1 Mutation is an Expansion of CTG Trinucleotide Repeats.- Mouse Models of Unstable DNA.- Molecular Pathogenesis of DM1.- Deficiency of SIX5 in DM1.- Alterations of RNA Metabolism in DM1.- CUGBP1 Targets.- Other Members of CUGBP1 Family.- Conclusions.- 3. Spinocerebellar Ataxias Caused By Polyglutamine Expansions.- Polyglutamine Expansions as Major Mutations in ADCA.- Age at Onset.- Clinical Presentation in Patients.- Neuropathological Lesions.- Factors Influencing Clinical Variability.- Physiopathology of Spinocerebellar Ataxias Caused by Polyglutamine Expansions.- Conclusions.- Towards Therapy.- 4. Spinocerebellar Ataxia Type 10: A Disease Caused by a Large ATTCT Repeat Expansion.- Clinical Features.- Identification of the SCA10 Mutation.- Prospects of Research.- 5. The Molecular Basis of Friedreich Ataxia.- Gene Structure and Expression.- Point Mutations.- Frataxin Structure and Function.- Current Hypotheses for the Pathogenesis of Friedrich Ataxia.- Approaches for Treatment.

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