Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 233

1.
2.

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
3.

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.

4.

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.

5.

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy.

Kashima T, Manley JL.

Nat Genet. 2003 Aug;34(4):460-3.

PMID:
12833158
6.

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts.

Skordis LA, Dunckley MG, Yue B, Eperon IC, Muntoni F.

Proc Natl Acad Sci U S A. 2003 Apr 1;100(7):4114-9. Epub 2003 Mar 17.

7.

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
8.

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
9.
10.

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.

11.

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
12.

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.

Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B.

Hum Genet. 2008 Mar;123(2):141-53. doi: 10.1007/s00439-007-0455-7. Epub 2008 Jan 3.

PMID:
18172693
13.

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
14.

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
15.

The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization.

Le TT, Coovert DD, Monani UR, Morris GE, Burghes AH.

Neurogenetics. 2000 Sep;3(1):7-16.

PMID:
11085591
16.

Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector.

Baughan T, Shababi M, Coady TH, Dickson AM, Tullis GE, Lorson CL.

Mol Ther. 2006 Jul;14(1):54-62. Epub 2006 Mar 31.

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.

Spinal muscular atrophy: from gene to therapy.

Wirth B, Brichta L, Hahnen E.

Semin Pediatr Neurol. 2006 Jun;13(2):121-31. Review.

PMID:
17027862
19.

Spinal muscular atrophy: position and functional importance of the branch site preceding SMN exon 7.

Scholl R, Marquis J, Meyer K, Schümperli D.

RNA Biol. 2007 Jan-Mar;4(1):34-7. Epub 2007 May 30.

PMID:
17585203
20.

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients.

Andreassi C, Jarecki J, Zhou J, Coovert DD, Monani UR, Chen X, Whitney M, Pollok B, Zhang M, Androphy E, Burghes AH.

Hum Mol Genet. 2001 Nov 15;10(24):2841-9.

PMID:
11734549

Supplemental Content

Support Center