Alternative Splicing and Disease
Alternative Splicing and Disease
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.
Methods and Platforms for the Quantification of Splice Variants' Expression
Pre-mRNA Missplicing as a Cause of Human DiseaseAlternative 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.
Jeanteur, Philippe
| ISBN | 978-3-642-07081-5 |
|---|---|
| Artikelnummer | 9783642070815 |
| Medientyp | Buch |
| Copyrightjahr | 2010 |
| Verlag | Springer, Berlin |
| Umfang | XII, 257 Seiten |
| Abbildungen | XII, 257 p. 26 illus., 2 illus. in color. |
| Sprache | Englisch |
