Burghes AH - Search Results

1

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs.

Gabanella F, Butchbach ME, Saieva L, Carissimi C, Burghes AH, Pellizzoni L. Gabanella F, et al. Among authors: burghes ah. PLoS One. 2007 Sep 26;2(9):e921. doi: 10.1371/journal.pone.0000921. PLoS One. 2007. PMID: 17895963 Free PMC article.

2

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN.

Le TT, Pham LT, Butchbach ME, Zhang HL, Monani UR, Coovert DD, Gavrilina TO, Xing L, Bassell GJ, Burghes AH. Le TT, et al. Among authors: burghes ah. Hum Mol Genet. 2005 Mar 15;14(6):845-57. doi: 10.1093/hmg/ddi078. Epub 2005 Feb 9. Hum Mol Genet. 2005. PMID: 15703193

3

Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia.

Acharyya S, Butchbach ME, Sahenk Z, Wang H, Saji M, Carathers M, Ringel MD, Skipworth RJ, Fearon KC, Hollingsworth MA, Muscarella P, Burghes AH, Rafael-Fortney JA, Guttridge DC. Acharyya S, et al. Among authors: burghes ah. Cancer Cell. 2005 Nov;8(5):421-32. doi: 10.1016/j.ccr.2005.10.004. Cancer Cell. 2005. PMID: 16286249 Free article.

4

A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophy.

Butchbach ME, Edwards JD, Schussler KR, Burghes AH. Butchbach ME, et al. Among authors: burghes ah. J Neurosci Methods. 2007 Apr 15;161(2):285-90. doi: 10.1016/j.jneumeth.2006.11.002. Epub 2006 Dec 11. J Neurosci Methods. 2007. PMID: 17161463 Free PMC article.

5

Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy.

Butchbach ME, Edwards JD, Burghes AH. Butchbach ME, et al. Among authors: burghes ah. Neurobiol Dis. 2007 Aug;27(2):207-19. doi: 10.1016/j.nbd.2007.04.009. Epub 2007 May 5. Neurobiol Dis. 2007. PMID: 17561409 Free PMC article.

6

Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing.

Novoyatleva T, Heinrich B, Tang Y, Benderska N, Butchbach ME, Lorson CL, Lorson MA, Ben-Dov C, Fehlbaum P, Bracco L, Burghes AH, Bollen M, Stamm S. Novoyatleva T, et al. Among authors: burghes ah. Hum Mol Genet. 2008 Jan 1;17(1):52-70. doi: 10.1093/hmg/ddm284. Epub 2007 Oct 2. Hum Mol Genet. 2008. PMID: 17913700

7

Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.

Thurmond J, Butchbach ME, Palomo M, Pease B, Rao M, Bedell L, Keyvan M, Pai G, Mishra R, Haraldsson M, Andresson T, Bragason G, Thosteinsdottir M, Bjornsson JM, Coovert DD, Burghes AH, Gurney ME, Singh J. Thurmond J, et al. Among authors: burghes ah. J Med Chem. 2008 Feb 14;51(3):449-69. doi: 10.1021/jm061475p. Epub 2008 Jan 19. J Med Chem. 2008. PMID: 18205293

8

Let all DNA vote: who are the amyotrophic lateral sclerosis candidates?

Burghes AH, Butchbach ME. Burghes AH, et al. Neurology. 2008 Feb 26;70(9):662-3. doi: 10.1212/01.wnl.0000302177.15789.ae. Neurology. 2008. PMID: 18299517 No abstract available.

9

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.

Workman E, Saieva L, Carrel TL, Crawford TO, Liu D, Lutz C, Beattie CE, Pellizzoni L, Burghes AH. Workman E, et al. Among authors: burghes ah. Hum Mol Genet. 2009 Jun 15;18(12):2215-29. doi: 10.1093/hmg/ddp157. Epub 2009 Mar 27. Hum Mol Genet. 2009. PMID: 19329542 Free PMC article.

10

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.

Butchbach ME, Singh J, Thorsteinsdóttir M, Saieva L, Slominski E, Thurmond J, Andrésson T, Zhang J, Edwards JD, Simard LR, Pellizzoni L, Jarecki J, Burghes AH, Gurney ME. Butchbach ME, et al. Among authors: burghes ah. Hum Mol Genet. 2010 Feb 1;19(3):454-67. doi: 10.1093/hmg/ddp510. Epub 2009 Nov 6. Hum Mol Genet. 2010. PMID: 19897588 Free PMC article.

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