Description
SPRINGER Alternative Splicing And Disease by PHILIPPE JEANTEUR
Splicing of primary RNA transcript is a quasi-systematic step of gene expression in higher organisms. This is the first book to highlight the medical implications, i.e. diseases, caused by alternative splicing. Alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences. The book also outlines possible targets for therapy. Methods and Platforms for the Quantification of Splice Variants' Expression.- Pre-mRNA Missplicing as a Cause of Human Disease.- Alternative Splicing: Therapeutic Target and Tool.- SR Proteins as Potential Targets for Therapy.- Misregulation of Tau Alternative Splicing in Neurodegeneration and Dementia.- Spinal Muscular Atrophy and Therapeutic Prospects.- Misregulation of Alternative Splicing Causes Pathogenesis in Myotonic Dystrophy.- Redirecting Splicing to Address Dystrophin Mutations: Molecular By-pass Surgery.- Altered Splicing in Prelamin A-Associated Premature Aging Phenotypes.- Splicing Modulation as a Modifier of the CFTR Function.