Alternative splicing in disease and therapy

Mariano Garcia-Blanco, Andrew P. Baraniak, Erika L. Lasda

Research output: Contribution to journalArticle

390 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)535-546
Number of pages12
JournalNature Biotechnology
Volume22
Issue number5
DOIs
StatePublished - May 2004
Externally publishedYes

Fingerprint

Alternative Splicing
Exons
Proteins
Cyclooxygenase 1
Trans-Activators
Oligonucleotides
Proteome
Acetaminophen
Protein Splicing
Analgesics
Protein Isoforms
Mutation
Cystic Fibrosis
Therapeutics
Experiments
Prostaglandin-Endoperoxide Synthases

ASJC Scopus subject areas

  • Microbiology

Cite this

Alternative splicing in disease and therapy. / Garcia-Blanco, Mariano; Baraniak, Andrew P.; Lasda, Erika L.

In: Nature Biotechnology, Vol. 22, No. 5, 05.2004, p. 535-546.

Research output: Contribution to journalArticle

Garcia-Blanco, Mariano ; Baraniak, Andrew P. ; Lasda, Erika L. / Alternative splicing in disease and therapy. In: Nature Biotechnology. 2004 ; Vol. 22, No. 5. pp. 535-546.
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