Structural basis of a small molecule targeting RNA for a specific splicing correction
Author:
Funder
Cure SMA
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Molecular Biology
Link
http://www.nature.com/articles/s41589-019-0384-5.pdf
Reference55 articles.
1. Pearn, J. Classification of spinal muscular atrophies. Lancet 1, 919–922 (1980).
2. Paushkin, S., Gubitz, A. K., Massenet, S. & Dreyfuss, G. The SMN complex, an assemblyosome of ribonucleoproteins. Curr. Opin. Cell Biol. 14, 305–312 (2002).
3. Rochette, C. F., Gilbert, N. & Simard, L. R. SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Hum. Genet. 108, 255–266 (2001).
4. Cartegni, L. & Krainer, A. R. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat. Genet. 30, 377–384 (2002).
5. Kashima, T. & Manley, J. L. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat. Genet. 34, 460–463 (2003).
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