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Items: 1 to 20 of 246

1.

Alternative splicing dysregulation secondary to skeletal muscle regeneration.

Orengo JP, Ward AJ, Cooper TA.

Ann Neurol. 2011 Apr;69(4):681-90. doi: 10.1002/ana.22278. Epub 2011 Mar 11.

2.

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.

3.

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
4.

Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel.

Tang ZZ, Yarotskyy V, Wei L, Sobczak K, Nakamori M, Eichinger K, Moxley RT, Dirksen RT, Thornton CA.

Hum Mol Genet. 2012 Mar 15;21(6):1312-24. doi: 10.1093/hmg/ddr568. Epub 2011 Dec 2.

5.

Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1.

Nakamori M, Kimura T, Kubota T, Matsumura T, Sumi H, Fujimura H, Takahashi MP, Sakoda S.

Neurology. 2008 Feb 26;70(9):677-85. doi: 10.1212/01.wnl.0000302174.08951.cf.

PMID:
18299519
6.

Highly efficient in vivo delivery of PMO into regenerating myotubes and rescue in laminin-α2 chain-null congenital muscular dystrophy mice.

Aoki Y, Nagata T, Yokota T, Nakamura A, Wood MJ, Partridge T, Takeda S.

Hum Mol Genet. 2013 Dec 15;22(24):4914-28. doi: 10.1093/hmg/ddt341. Epub 2013 Jul 23.

PMID:
23882132
7.

Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy.

Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, Thornton CA.

Hum Mol Genet. 2006 Jul 1;15(13):2087-97. Epub 2006 May 22.

PMID:
16717059
8.

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.

9.

Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity.

Kim YK, Mandal M, Yadava RS, Paillard L, Mahadevan MS.

Hum Mol Genet. 2014 Jan 15;23(2):293-302. doi: 10.1093/hmg/ddt419. Epub 2013 Sep 2.

10.

Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy.

Gao Z, Cooper TA.

Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13570-5. doi: 10.1073/pnas.1308806110. Epub 2013 Jul 30.

11.

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.

12.

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.

13.

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.

14.

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.

15.

Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle.

Holt I, Jacquemin V, Fardaei M, Sewry CA, Butler-Browne GS, Furling D, Brook JD, Morris GE.

Am J Pathol. 2009 Jan;174(1):216-27. doi: 10.2353/ajpath.2009.080520. Epub 2008 Dec 18. Erratum in: Am J Pathol. 2009 Mar;174(3):1120-1.

16.

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.

17.

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, Lopez de Munain A, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N.

Nat Med. 2011 Jun;17(6):720-5. doi: 10.1038/nm.2374. Epub 2011 May 29.

PMID:
21623381
18.

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
19.

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.

20.

Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies.

Bachinski LL, Baggerly KA, Neubauer VL, Nixon TJ, Raheem O, Sirito M, Unruh AK, Zhang J, Nagarajan L, Timchenko LT, Bassez G, Eymard B, Gamez J, Ashizawa T, Mendell JR, Udd B, Krahe R.

Neuromuscul Disord. 2014 Mar;24(3):227-40. doi: 10.1016/j.nmd.2013.11.001. Epub 2013 Nov 15.

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