Comment
doi: 10.1016/S0167-7799(03)00168-9.
Putting some spine into alternative splicing
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- PMID: 12902166
- DOI: 10.1016/S0167-7799(03)00168-9
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Comment
Putting some spine into alternative splicing
Trends Biotechnol.
2003 Aug.
Abstract
Spinal muscular atrophy is a neurodegenerative disease caused by mutations of the SMN1 gene. The homologous SMN2 gene is unable to complement SMN1 because of a crucial mutation in an exonic splicing enhancer, leading to alternative splicing and exclusion of exon 7. Two recent papers show that the defect in splicing of exon 7 of SMN2 is specifically corrected by small synthetic effectors. These new and specific approaches have potential in the treatment of diseases caused by defective splicing.
Comment on
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Correction of disease-associated exon skipping by synthetic exon-specific activators.Nat Struct Biol. 2003 Feb;10(2):120-5. doi: 10.1038/nsb887. Nat Struct Biol. 2003. PMID: 12524529
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Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts.Proc Natl Acad Sci U S A. 2003 Apr 1;100(7):4114-9. doi: 10.1073/pnas.0633863100. Epub 2003 Mar 17. Proc Natl Acad Sci U S A. 2003. PMID: 12642665 Free PMC article.
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