Alternative splicing in disease and therapy

Alternative splicing is the major source of proteome diversity in humans and thus is highly relevant to disease and therapy. For example, recent work suggests that the long-sought-after target of the analgesic acetaminophen is a neural-specific, alternatively spliced isoform of cyclooxygenase 1 (COX...

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Bibliographic Details
Published in:Nature biotechnology 2004-05, Vol.22 (5), p.535-546
Main Authors: Garcia-Blanco, Mariano A, Baraniak, Andrew P, Lasda, Erika L
Format: Article
Language:English
Subjects:
Agriculture
Alternative Splicing
Base Sequence
Bioinformatics
Biological and medical sciences
Biomedical and Life Sciences
Biomedical Engineering/Biotechnology
Biomedicine
Biotechnology
Fundamental and applied biological sciences. Psychology
Genetic Predisposition to Disease
Health. Pharmaceutical industry
Humans
Industrial applications and implications. Economical aspects
Life Sciences
Miscellaneous
Mutation
Phenotype
Reagents
review-article
RNA
Therapeutics
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Summary:Alternative splicing is the major source of proteome diversity in humans and thus is highly relevant to disease and therapy. For example, recent work suggests that the long-sought-after target of the analgesic acetaminophen is a neural-specific, alternatively spliced isoform of cyclooxygenase 1 (COX-1). Several important diseases, such as cystic fibrosis, have been linked with mutations or variations in either cis -acting elements or trans -acting factors that lead to aberrant splicing and abnormal protein production. Correction of erroneous splicing is thus an important goal of molecular therapies. Recent experiments have used modified oligonucleotides to inhibit cryptic exons or to activate exons weakened by mutations, suggesting that these reagents could eventually lead to effective therapies.
ISSN:1087-0156
1546-1696
DOI:10.1038/nbt964