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Items: 1 to 20 of 107

1.

LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity.

Yamashita Y, Matsuura T, Kurosaki T, Amakusa Y, Kinoshita M, Ibi T, Sahashi K, Ohno K.

Neurobiol Dis. 2014 Sep;69:200-5. doi: 10.1016/j.nbd.2014.05.026. Epub 2014 May 27.

PMID:
24878509
2.

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

Santoro M, Modoni A, Masciullo M, Gidaro T, Broccolini A, Ricci E, Tonali PA, Silvestri G.

Exp Mol Pathol. 2010 Oct;89(2):158-68. doi: 10.1016/j.yexmp.2010.05.007. Epub 2010 Jun 1.

PMID:
20685272
3.

Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain.

Suenaga K, Lee KY, Nakamori M, Tatsumi Y, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Du H, Ares M Jr, Swanson MS, Kimura T.

PLoS One. 2012;7(3):e33218. doi: 10.1371/journal.pone.0033218. Epub 2012 Mar 13.

4.

Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.

Hino S, Kondo S, Sekiya H, Saito A, Kanemoto S, Murakami T, Chihara K, Aoki Y, Nakamori M, Takahashi MP, Imaizumi K.

Hum Mol Genet. 2007 Dec 1;16(23):2834-43. Epub 2007 Aug 29.

PMID:
17728322
5.

Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing.

Paul S, Dansithong W, Kim D, Rossi J, Webster NJ, Comai L, Reddy S.

EMBO J. 2006 Sep 20;25(18):4271-83. Epub 2006 Aug 31.

6.

Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features.

Dansithong W, Wolf CM, Sarkar P, Paul S, Chiang A, Holt I, Morris GE, Branco D, Sherwood MC, Comai L, Berul CI, Reddy S.

PLoS One. 2008;3(12):e3968. doi: 10.1371/journal.pone.0003968. Epub 2008 Dec 18.

7.

Molecular Effects of the CTG Repeats in Mutant Dystrophia Myotonica Protein Kinase Gene.

Llamusí B, Artero R.

Curr Genomics. 2008 Dec;9(8):509-16. doi: 10.2174/138920208786847944.

8.

Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1.

Koebis M, Ohsawa N, Kino Y, Sasagawa N, Nishino I, Ishiura S.

Genes Cells. 2011 Sep;16(9):961-72. doi: 10.1111/j.1365-2443.2011.01542.x. Epub 2011 Jul 28.

9.

Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy.

Ohsawa N, Koebis M, Suo S, Nishino I, Ishiura S.

Biochem Biophys Res Commun. 2011 May 27;409(1):64-9. doi: 10.1016/j.bbrc.2011.04.106. Epub 2011 Apr 28.

PMID:
21549096
10.

MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1.

Dansithong W, Paul S, Comai L, Reddy S.

J Biol Chem. 2005 Feb 18;280(7):5773-80. Epub 2004 Nov 16. Erratum in: J Biol Chem. 2005 May 20;280(20):20176.

11.

MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1.

de Haro M, Al-Ramahi I, De Gouyon B, Ukani L, Rosa A, Faustino NA, Ashizawa T, Cooper TA, Botas J.

Hum Mol Genet. 2006 Jul 1;15(13):2138-45. Epub 2006 May 24.

PMID:
16723374
12.

Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy.

Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, Cooper TA.

J Cell Sci. 2005 Jul 1;118(Pt 13):2923-33. Epub 2005 Jun 16.

13.

Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2.

Carpentier C, Ghanem D, Fernandez-Gomez FJ, Jumeau F, Philippe JV, Freyermuth F, Labudeck A, Eddarkaoui S, Dhaenens CM, Holt I, Behm-Ansmant I, Marmier-Gourrier N, Branlant C, Charlet-Berguerand N, Marie J, Schraen-Maschke S, Buée L, Sergeant N, Caillet-Boudin ML.

Biochim Biophys Acta. 2014 Apr;1842(4):654-64. doi: 10.1016/j.bbadis.2014.01.004. Epub 2014 Jan 14.

14.

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts.

Machuca-Tzili L, Thorpe H, Robinson TE, Sewry C, Brook JD.

Hum Genet. 2006 Nov;120(4):487-99. Epub 2006 Aug 23.

PMID:
16927100
15.

ABLIM1 splicing is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1.

Ohsawa N, Koebis M, Mitsuhashi H, Nishino I, Ishiura S.

Genes Cells. 2015 Feb;20(2):121-34. doi: 10.1111/gtc.12201. Epub 2014 Nov 18.

16.

HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1.

O'Leary DA, Vargas L, Sharif O, Garcia ME, Sigal YJ, Chow SK, Schmedt C, Caldwell JS, Brinker A, Engels IH.

Curr Chem Genomics. 2010 Mar 19;4:9-18. doi: 10.2174/1875397301004010009.

17.

Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy.

Wang GS, Kearney DL, De Biasi M, Taffet G, Cooper TA.

J Clin Invest. 2007 Oct;117(10):2802-11.

18.

Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model.

Llamusi B, Bargiela A, Fernandez-Costa JM, Garcia-Lopez A, Klima R, Feiguin F, Artero R.

Dis Model Mech. 2013 Jan;6(1):184-96. doi: 10.1242/dmm.009563. Epub 2012 Nov 1.

19.

Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy.

Ho TH, Bundman D, Armstrong DL, Cooper TA.

Hum Mol Genet. 2005 Jun 1;14(11):1539-47. Epub 2005 Apr 20.

PMID:
15843400
20.

Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy.

Osborne RJ, Lin X, Welle S, Sobczak K, O'Rourke JR, Swanson MS, Thornton CA.

Hum Mol Genet. 2009 Apr 15;18(8):1471-81. doi: 10.1093/hmg/ddp058. Epub 2009 Feb 17.

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