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Results: 1 to 20 of 134

1.

RNA splicing is responsive to MBNL1 dose.

Jog SP, Paul S, Dansithong W, Tring S, Comai L, Reddy S.

PLoS One. 2012;7(11):e48825. doi: 10.1371/journal.pone.0048825. Epub 2012 Nov 15.

PMID:
23166594
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
19092997
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients.

Botta A, Rinaldi F, Catalli C, Vergani L, Bonifazi E, Romeo V, Loro E, Viola A, Angelini C, Novelli G.

J Med Genet. 2008 Oct;45(10):639-46. doi: 10.1136/jmg.2008.058909. Epub 2008 Jul 8.

PMID:
18611984
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
15546872
[PubMed - indexed for MEDLINE]
Free Article
5.

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
[PubMed - indexed for MEDLINE]
Free Article
6.

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.

PMID:
22427994
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex.

Paul S, Dansithong W, Jog SP, Holt I, Mittal S, Brook JD, Morris GE, Comai L, Reddy S.

J Biol Chem. 2011 Nov 4;286(44):38427-38. doi: 10.1074/jbc.M111.255224. Epub 2011 Sep 7.

PMID:
21900255
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Gain of RNA function in pathological cases: Focus on myotonic dystrophy.

Klein AF, Gasnier E, Furling D.

Biochimie. 2011 Nov;93(11):2006-12. doi: 10.1016/j.biochi.2011.06.028. Epub 2011 Jul 13. Review.

PMID:
21763392
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
23118342
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
15961406
[PubMed - indexed for MEDLINE]
Free Article
11.

Systemic delivery of a Peptide-linked morpholino oligonucleotide neutralizes mutant RNA toxicity in a mouse model of myotonic dystrophy.

Leger AJ, Mosquea LM, Clayton NP, Wu IH, Weeden T, Nelson CA, Phillips L, Roberts E, Piepenhagen PA, Cheng SH, Wentworth BM.

Nucleic Acid Ther. 2013 Apr;23(2):109-17. doi: 10.1089/nat.2012.0404. Epub 2013 Jan 11.

PMID:
23308382
[PubMed - indexed for MEDLINE]
12.

MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.

Huin V, Vasseur F, Schraen-Maschke S, Dhaenens CM, Devos P, Dupont K, Sergeant N, Buée L, Lacour A, Hofmann-Radvanyi H, Sablonnière B.

J Neurol. 2013 Apr;260(4):998-1003. doi: 10.1007/s00415-012-6740-y. Epub 2012 Nov 16.

PMID:
23161457
[PubMed - indexed for MEDLINE]
13.

CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.

Ward AJ, Rimer M, Killian JM, Dowling JJ, Cooper TA.

Hum Mol Genet. 2010 Sep 15;19(18):3614-22. doi: 10.1093/hmg/ddq277. Epub 2010 Jul 5.

PMID:
20603324
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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
[PubMed - indexed for MEDLINE]
15.

Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy.

Orengo JP, Chambon P, Metzger D, Mosier DR, Snipes GJ, Cooper TA.

Proc Natl Acad Sci U S A. 2008 Feb 19;105(7):2646-51. doi: 10.1073/pnas.0708519105. Epub 2008 Feb 13.

PMID:
18272483
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Pathogenic mechanisms of myotonic dystrophy.

Lee JE, Cooper TA.

Biochem Soc Trans. 2009 Dec;37(Pt 6):1281-6. doi: 10.1042/BST0371281. Review.

PMID:
19909263
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
[PubMed - indexed for MEDLINE]
Free Article
18.

Age of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1).

Gladman JT, Mandal M, Srinivasan V, Mahadevan MS.

PLoS One. 2013 Sep 5;8(9):e72907. doi: 10.1371/journal.pone.0072907. eCollection 2013.

PMID:
24039817
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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.

PMID:
17823658
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.

Ranum LP, Day JW.

Curr Neurol Neurosci Rep. 2002 Sep;2(5):465-70. Review.

PMID:
12169228
[PubMed - indexed for MEDLINE]

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