Title: Pre-mRNA Splicing Mechanisms, Misregulation in Disease, and Therapeutic Strategies
Abstract: Abstract Abstract SCI-13 Most eukaryotic protein-coding genes have one or more introns, and their transcripts can undergo alternative splicing, giving rise to multiple isoforms. Accurate splicing is essential for normal gene expression, and alternative splicing is a key mechanism for expanding the proteome and regulating the expression of diverse protein isoforms. This session will review the general mechanisms of pre-mRNA splicing and the regulation of alternative splicing. In addition, the process of how abnormal splicing arises as a result of intronic or exonic mutations in particular genes, or more globally as a result of splicing-factor misregulation, as well as the contribution of splicing misregulation to cancer, will be described. Lastly the current status of targeted therapeutics development, focusing on antisense approaches to correct abnormal splicing of specific genes or to modulate alternative splicing, will be discussed. Disclosures: Krainer: ISIS Pharmaceuticals: Consultancy, Patents & Royalties, Research Funding.
Publication Year: 2012
Publication Date: 2012-11-16
Language: en
Type: article
Indexed In: ['crossref']
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