Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers-Reference-Cited by-同舟云学术

Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers

Published:2017-11-14 Issue:1 Volume:8 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Sivaramakrishnan Manaswini,McCarthy Kathleen D.,Campagne Sébastien,Huber Sylwia,Meier Sonja,Augustin Angélique,Heckel Tobias,Meistermann Hélène,Hug Melanie N.,Birrer Pascale,Moursy Ahmed^ORCID,Khawaja Sarah,Schmucki Roland,Berntenis Nikos,Giroud Nicolas,Golling Sabrina,Tzouros Manuel,Banfai Balazs^ORCID,Duran-Pacheco Gonzalo,Lamerz Jens,Hsiu Liu Ying,Luebbers Thomas,Ratni Hasane,Ebeling Martin,Cléry Antoine,Paushkin Sergey,Krainer Adrian R.,Allain Frédéric H.-T.,Metzger Friedrich

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/s41467-017-01559-4.pdf

Reference50 articles.

1. Monani, U. R. et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum. Mol. Genet. 8, 1177–1183 (1999).

2. Lorson, C. L., Hahnen, E., Androphy, E. J. & Wirth, B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl Acad. Sci. USA 96, 6307–6311 (1999).

3. Hammond, S. M. & Wood, M. J. Genetic therapies for RNA mis-splicing diseases. Trends Genet. 27, 196–205 (2011).

4. Sperling, R. The nuts and bolts of the endogenous spliceosome. Wiley Interdiscip. Rev. RNA 8, e1377 (2016).

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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