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Alternative Splicing and Disease

  • Book
  • © 2006

Overview

Editors:
  1. Philippe Jeanteur

    1. Institute of Molecular Genetics of Montpellier, France

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  • First book to highlight the medical implications, i.e. diseases, caused by alternative splicing
  • Outlines possible targets for therapy
  • Written by internationally reknown experts
  • Includes supplementary material: sn.pub/extras

Part of the book series: Progress in Molecular and Subcellular Biology (PMSB, volume 44)

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Table of contents (10 chapters)

  1. Front Matter

    Pages i-xii
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  2. Methods and Platforms for the Quantification of Splice Variants' Expression

    • Laurent Bracco, Emeline Throo, Olivier Cochet, Richard Einstein, Florence Maurier
    Pages 1-25

  3. Pre-mRNA Missplicing as a Cause of Human Disease

    • Tatyana Novoyatleva, Yesheng Tang, Ilona Rafalska, Stefan Stamm
    Pages 27-46

  4. Alternative Splicing: Therapeutic Target and Tool

    • Mariano A. Garcia-Blanco
    Pages 47-64

  5. SR Proteins as Potential Targets for Therapy

    • Johann Soret, Mathieu Gabut, Jamal Tazi
    Pages 65-87

  6. Misregulation of Tau Alternative Splicing in Neurodegeneration and Dementia

    • Athena Andreadis
    Pages 89-107

  7. Spinal Muscular Atrophy and Therapeutic Prospects

    • Brunhilde Wirth, Lars Brichta, Eric Hahnen
    Pages 109-132

  8. Misregulation of Alternative Splicing Causes Pathogenesis in Myotonic Dystrophy

    • N. Muge Kuyumcu-Martinez, Thomas A. Cooper
    Pages 133-159

  9. Redirecting Splicing to Address Dystrophin Mutations: Molecular By-pass Surgery

    • Stephen D. Wilton, Susan Fletcher
    Pages 161-197

  10. Altered Splicing in Prelamin A-Associated Premature Aging Phenotypes

    • Annachiara De Sandre-Giovannoli, Nicolas Lévy
    Pages 199-232

  11. Splicing Modulation as a Modifier of the CFTR Function

    • Malka Nissim-Rafinia, Batsheva Kerem
    Pages 233-254

  12. Back Matter

    Pages 255-257
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Keywords

About this book

Splicing of primary RNA transcript, i.e. removal of introns and joining of exons to produce mature mRNAs competent for translation into proteins, is a quasi-systematic step of gene expression in higher organisms. However, this process is not unequivocal but can follow alternate pathways. Alternative splicing of a given transcript can therefore yield several distinct mRNAs encoding as many different proteins. Its full biological significance has not been appreciated until it was recognized that alternative splicing is so general as to affect about 75% of all human genes. Therefore, alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences.

Editors and Affiliations

  • Institute of Molecular Genetics of Montpellier, France

    Philippe Jeanteur

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