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Items: 1 to 20 of 140

1.

Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes.

Singh NN, Singh RN, Androphy EJ.

Nucleic Acids Res. 2007;35(2):371-89. Epub 2006 Dec 14.

2.
3.

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

Cartegni L, Hastings ML, Calarco JA, de Stanchina E, Krainer AR.

Am J Hum Genet. 2006 Jan;78(1):63-77. Epub 2005 Nov 16.

4.

Evolving concepts on human SMN pre-mRNA splicing.

Singh RN.

RNA Biol. 2007 Jan-Mar;4(1):7-10. Epub 2007 Jun 4.

PMID:
17592254
5.

5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells.

Yuo CY, Lin HH, Chang YS, Yang WK, Chang JG.

Ann Neurol. 2008 Jan;63(1):26-34.

PMID:
17924536
6.

The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene.

Chen HH, Chang JG, Lu RM, Peng TY, Tarn WY.

Mol Cell Biol. 2008 Nov;28(22):6929-38. doi: 10.1128/MCB.01332-08. Epub 2008 Sep 15.

7.
8.

The regulation and regulatory activities of alternative splicing of the SMN gene.

Singh NN, Androphy EJ, Singh RN.

Crit Rev Eukaryot Gene Expr. 2004;14(4):271-85. Review.

PMID:
15663357
9.

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing.

Kashima T, Rao N, David CJ, Manley JL.

Hum Mol Genet. 2007 Dec 15;16(24):3149-59. Epub 2007 Sep 19.

PMID:
17884807
10.

An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy.

Singh NN, Androphy EJ, Singh RN.

Biochem Biophys Res Commun. 2004 Mar 5;315(2):381-8.

PMID:
14766219
11.

Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing.

DiDonato CJ, Lorson CL, De Repentigny Y, Simard L, Chartrand C, Androphy EJ, Kothary R.

Hum Mol Genet. 2001 Nov 1;10(23):2727-36.

PMID:
11726560
12.

SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1.

Young PJ, DiDonato CJ, Hu D, Kothary R, Androphy EJ, Lorson CL.

Hum Mol Genet. 2002 Mar 1;11(5):577-87.

PMID:
11875052
13.
14.

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.

Hum Mutat. 2005 Jan;25(1):64-71.

PMID:
15580564
15.

Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs.

Madocsai C, Lim SR, Geib T, Lam BJ, Hertel KJ.

Mol Ther. 2005 Dec;12(6):1013-22. Epub 2005 Oct 14.

16.

An intronic element contributes to splicing repression in spinal muscular atrophy.

Kashima T, Rao N, Manley JL.

Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3426-31. Epub 2007 Feb 16.

17.

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2).

Hofmann Y, Lorson CL, Stamm S, Androphy EJ, Wirth B.

Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9618-23.

18.
19.

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.

Lorson CL, Hahnen E, Androphy EJ, Wirth B.

Proc Natl Acad Sci U S A. 1999 May 25;96(11):6307-11.

20.

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN.

Lorson CL, Androphy EJ.

Hum Mol Genet. 2000 Jan 22;9(2):259-65.

PMID:
10607836

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