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Advances in Experimental Medicine and Biology Ser.: Triple Repeat Diseases of the Nervous Systems by Lubov T. Timchenko (2003, Hardcover)

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Author Lubov T. Timchenko. The number of polymorphic mutations and diseases caused by these mutations is increasing almost every month. Title Triple Repeat Diseases of the Nervous Systems. This book summarizes the current knowledge on the molecular bases for human inherited diseases associated with unstable mutations.

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Product Information

World of Unstable Mutations The book "Triplet Repeat Diseases of the Nervous System" overviews the lat- est data on several disorders associated with unstable mutations. This field of re- search is progressing extremely fast. The number of polymorphic mutations and diseases caused by these mutations is increasing almost every month. There is a strong interest to molecular bases of triplet repeat disorders. This is explained by growing necessity to develop molecular approaches for cure of these diseases. There- fore, the authors of this book describe unstable mutations with the emphasis on molecular pathology. Broad discussion is presented on how polymorphic expan- sions cause cell dysfunction. o The first chapter of the book focuses on the molecular pathological pro- cesses that originate "unstable" mutations. The authors review several avail- able models by which normal "stable" region of DNA become pathogenic and discuss possible mechanisms causing DNA instability. o The other chapters of the book describe inherited diseases associated with different types of unstable mutations. Based on the location of mutation in the disease gene, polymorphic expansions of the nervous system can be divided into two major groups. First group includes disorders with unstable expansions within the open reading frame of the gene such as Spinocer- ebellar Ataxias caused by polyglutamine expansions. The second group in- cludes diseases caused by expansions situated within the untranslated re- gions of the gene.

Product Identifiers

Publisher
Springer
ISBN-10
0306474174
ISBN-13
9780306474170
eBay Product ID (ePID)
2315646

Product Key Features

Author
Lubov T. Timchenko
Publication Name
Triple Repeat Diseases of the Nervous Systems
Format
Hardcover
Language
English
Publication Year
2003
Series
Advances in Experimental Medicine and Biology Ser.
Type
Textbook
Number of Pages
X, 121 Pages

Dimensions

Item Length
10in
Item Width
7in
Item Weight
37.4 Oz

Additional Product Features

Series Volume Number
516
Number of Volumes
1 Vol.
Lc Classification Number
Rb155-155.8
Table of Content
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.
Copyright Date
2002
Topic
Neurology, Agriculture / Forestry, Ecosystems & Habitats / Forests & Rainforests, Genetics
Lccn
2002-040781
Dewey Decimal
6.8/0442
Intended Audience
Scholarly & Professional
Dewey Edition
21
Illustrated
Yes
Genre
Technology & Engineering, Nature, Medical

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Advances in Experimental Medicine and Biology Ser.: Triple Repeat Diseases of the Nervous Systems by Lubov T. Timchenko (2003, Hardcover)

About this product

Product Information

Product Identifiers

Product Key Features

Dimensions

Additional Product Features

All listings for this product

item 1 Triple Repeat Diseases of the Nervous Systems

item 2 Triple Repeat Diseases of the Nervous Systems by Lubov T. Timchenko (English) Ha

Best Selling in Textbooks

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Designing Data-Intensive Applications : The Big Ideas Behind Reliable, Scalable, and Maintainable Systems by Martin Kleppmann (2017, Trade Paperback)

Diagnostic and Statistical Manual of Mental Disorders DSM-5-TR by American Psychiatric Association (2022, Trade Paperback)

Research Design : Qualitative, Quantitative, and Mixed Methods Approaches by J. David Creswell and John W. Creswell (2022, Trade Paperback)

Self Heal by Design : The Role of Micro-organisms for Health by Barbara O'Neill (2018, Trade Paperback)

Leadership : Theory and Practice by Peter G. Northouse (2021, Trade Paperback, Revised edition)

Diagnostic and Statistical Manual of Mental Disorders : DSM-5-TR by American Psychiatric Association (2022, Hardcover)

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