Genetic Instabilities and Hereditary Neurological Diseases

Name: Genetic Instabilities and Hereditary Neurological Diseases
Price: 190.76 EUR
Availability: OutOfStock
ISBN: 978-0-12-742935-9

Robert D. Wells Stephen T. Warren Marion Sarmiento(Herausgeber*in)

Academic Press

Erschienen am 21. Mai 1998

Buch

Hardcover

829 Seiten

978-0-12-742935-9 (ISBN)

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Beschreibung

This book represents the first authoritative review of all neurological diseases related to repeat expansions. Some of the diseases covered in this volume include fragile X syndrome, spino and bulbar muscular atrophy, myotonic dystrophy, spinocerebellar ataxia type 1 and type 7, Huntingtons disease, and Friedreichs ataxia. The book describes investigations into the underlying molecular mechanisms responsible for these syndromes. For students and researchers alike, "Genetic Instabilities and Hereditary Neurological Diseases" serves as a comprehensive treatise covering many aspects of all neurological diseases. The key features include: first authoritative review of neurological diseases related to repeat expansions; description of clinical, human genetics, molecular biological, and biophysical investigations into these syndromes; and contributions by most of the principal research teams in the area, edited by world-renowned leaders. It lays the background for future investigations on related diseases

Rezensionen / Stimmen

"I find this book...engrossing, since it affords major insights into molecular pathogenesis... What makes the content of this book riveting is that, in addition to the inherent fascination of the story of triplet-repeat sequences, all the authors have combined their outstanding, scholarly presentations with a passion and an enthusiasm that are hard to ignore. As details of pathogenesis are laid out for us, many options for the development of logical treatments appear on the horizon, adding to the excitement. Furthermore, I have never seen a book with such up-to-date information from so many contributors. The text is filled with new data and breaking reports of unpublished findings... This overall synthesis of current knowledge on unstable triplet-repeat sequences is clearly as good as it gets... I think this story is so compelling and so well told that all who are interested in the diagnosis, pathogenesis, and future treatment of hereditary brain diseases must read this masterpiece." --Michael Harrington in NEW ENGLAND JOURNAL OF MEDICINE (November 1999) "The editors have set out to create a comprehensive, up-to-date review of what is becoming an increasingly broad field. They succeed admirably in their task. Wells and Warren have enlisted recognized experts in the field... Genetic Instabilities is an extremely useful reference book that geneticists, researchers, and clinicians will want on their shelves... There is no doubt that Genetic Instabilities will be a much sought after reference text in many laboratoriesit certainly already has been in ours." --P. Opal and H. Paulson in AMERICAN JOURNAL OF HUMAN GENETICS

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Inhalt

Introduction: G.R. Wilmot and S.T. Warren, New Mutational Basis of Disease. Fragile X Syndrome: R. Hagerman, Clinical and Diagnostic Aspects of Fragile X Syndrome. G. Imbert, Y. Feng, D.L. Nelson, S.T. Warren, and J-L. Mandell, FMR 1 and Mutations in Fragile X Syndrome: Molecular Biology, Biochemistry, and Genetics. B.A. Oostra and P.J. Willems, Murine Model of Fragile X Syndrome. Other Fragile Sites: D.L. Nelson, FRAXE Mental Retardation and other Folate-Sensitive Sites. T. Glover, Common Fragile Sites. Spinal and Bulbar Muscular Atrophy: J.D. Zajac and H.E. MacLean, Kennedys Disease: Clinical Aspecs. D.E. Merry and K.H. Fischbeck, Genetics and Molecular Biology of the Androgen Receptor CAG Repeat. Myotonic Dystrophy: P. Harper, Myotonic Dystrophy as a Trinucleotide Repeat Disorder--A Clinical Perspective. J.D. Waring and R. Korneluk, Genetic Studies of the Myotonic Dystrophy CTG Repeat. H.F. Epstein and S. Jin, Biochemical Studies of the DM Protein Kinase (DMPK). C.L. Winchester and K.J. Johnson, Is Myotonic Dystrophy (DM) the Result of a Contiguous Gene Defect? D.G. Monckton, T. Ashizawa, and M.J. Siciliano, Murine Models for Myotonic Dystrophy. Dentatorubral-Pallidoluysian Atrophy: I. Kondo, Clinical Aspects of DRPLA. S. Tsuji, Molecular Genetics of Dentatorubral-Pallidoluysian Atrophy (DRPLA). J. Vance, The Allelic Variant: HAW River Syndrome. Spinocerebellar Ataxia Type 1: S.H. Subramony and P.J.S. Vig, Clinical Apsects of SCA-1. B.T. Koshy, A. Matilla, and H.Y. Zoghbi, Genetic Studies of the SCA1 Gene and Biochemical Work of the Ataxin. D. Kaytor and H.T. Orr, Murine Model of SCA1: Repeat Instability and Neurobiology. Other Dominant Spinocerebellar Ataxias: S-M. Pulst, Spinocerebellar Ataxia Type 2. G. David, N. Abbas, A. Durr, G. Stevanin, G. Cancel, C. Yvert, G. Imbert, F. Saudou, J-L. Mandel, Y. Agid, and A. Brice, Autosomal Dominant Cerebellar Ataxia with Macular Dystrophy (SCA7) is Caused by a Highly Unstable CAG Repeat Expansion. M. Nakamoto, H. Ikeda, and A. Kakizuka, Genetic and Molecular Studies of Machado-Joseph Disease. Huntington's Disease: R.H. Meyers, K.S. Marans, and M.E. MacDonald, Huntington's Disease. A.H.M. Mahbubul Huq, A. Hackam, R.K. Graham, C.L. Wellington, and M.R. Hayden, Molecular Pathogenesis of Huntington Disease: Biochemical Studies of Huntington. G.P. Bates, E.E. Wanker, and S.W. Davies, Murine Models of Huntington's Disease. Freidreich's Ataxia: M. Pandolfo and M. Koenig, Clinical and Pathological Aspects of Freidreich Ataxia. Candidate Disorders Revealing Anticipation: M.G. McInnis and R.L. Margolis, Anticipation and Psychiatric Diseases. A.D. Paterson, D.M.J. Naimark, J.B. Vincent, J.L. Kennedy, and A. Petronis, Genetic Anticipation in Neurological and Other Disorders. Approaches to Detect Unstable Trinucleotide Repeat Loci: R.L. Margolis and C.A. Ross, Detection of Unstable Trinucleotide Repeat Loci: Genome and cDNA Screening. M. Schalling, K. Lindblad, Q-P. Yuan, C.E. Burgess, C. Zander, and T. Hudson, RED Technology. Y. Trottier, G. Zeder-Lutz, and J-L. Mandel, Selective Recognition of Proteins with Pathological Polyglutamine Tracts by a Monoclonal Antibody. K. Sanpei and S. Tsuji, DIRECT Technologies. Systems for the Study of Genetic Instabilities: A. Bacolla, R.P. Bowater, and R.D. Wells, Systems for the Study of Genetic Instabilities: Escherichia coli. S. Jinks-Robertson, C. Greene, and W. Cheng, Genetic Instabilities in Yeast. P. Steinbach, D. Wohrle, D. Glaser, and W. Vogel, Systems for the Study of Triplet Repeat Instability: Cultured Mammalian Cells. P.M. Glazer, S.E. Andrew, F.R. Jirik, and L. Narayanan, Genetic Instability in Transgenic Mice Deficient in DNA Mismatch Repair. E.P. Leeflang, S. Tavare, P. Marjoram, R. Grewal, C.O.S. Neal, and N. Arnheim, Human Germline Mutation Analysis by Single Genome PCR: Application to Dynamic Mutations. Biophysical and Structural Studies on Triplet Repeat Sequences: R. Gellibolian and A. Bacolla, Biophysical and Structural Studies on Triplet Repeat Sequences: Duplex Triplet Repeat Structures. C.E. Pearson and R.R. Sinden, Slipped Strand DNA, Dynamic Mutations, and Human Disease. X. Gao, X. Huang, G.K. Smith, and M. Zheng, Structure and Dynamics of Single Stranded Nucleic Acids Containing Trinucleotide Repeats. S.V. Santhana-Mariappan, X. Chen, P. Catasti, E.M. Bradbury, and G. Gupta, Structural Studies on the Unstable Triplet Repeats. J.D. Griffith and Y-H. Wang, Nucleosome Analyses and Diseases of Chromatin Structure. Replication-Repair of TRS: S.H. Wilson, R.K. Singhal, and B.Z. Zmudzka, Studies of DNA Polymerases in Replication-Based Repeat Expansion. L.C. Kroutil and T.A. Kunkel, DNA Replication Errors Involving Strand Misalignments. K. Ohshima and R.D. Wells, In Vitro DNA Synthesis of Triplet Repeat Sequences. Oligoglutamine Effects: H. Green and P. Djian, Amino Acid Repeats in Proteins and the Neurological Diseases Produced by Polyglutamine. C.A. Ross, R.L. Margolis, M.W. Becher, J.D. Wood, S. Engelender, and A.H. Sharp, Pathogenesis of Polyglutamine Neurodegenerative Diseases: Towards a Unifying Mechanism. Genome Instability Not Involving Triplet Repeats: S.E. Antonarakis, Expansion of a 12-mer (CCCCGCCCCGCG) Repeat in Progressive Myoclonus Epilepsy. J.M. Cunningham, L.A. Boardman, L.J. Burgart, and S.N. Thibodeau, Microsatellite Instability in Sporadic and Hereditary Non-Polyposis Colon Cancers. Overview and Summary: R.D. Wells and S.T. Warren, Future Directions. Subject Index.

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