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Items: 1 to 20 of 382

1.

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
2.

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, Dirksen RT, Takahashi MP, Dulhunty AF, Sakoda S.

Hum Mol Genet. 2005 Aug 1;14(15):2189-200. Epub 2005 Jun 22.

PMID:
15972723
3.

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.

4.

Myotonic dystrophy: the role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios.

Tiscornia G, Mahadevan MS.

Mol Cell. 2000 Jun;5(6):959-67. Erratum in: Mol Cell 2000 Nov;6(5):following 1273.

5.

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.

6.

Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy.

Lu X, Timchenko NA, Timchenko LT.

Hum Mol Genet. 1999 Jan;8(1):53-60.

PMID:
9887331
7.

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.

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
9.

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy.

Philips AV, Timchenko LT, Cooper TA.

Science. 1998 May 1;280(5364):737-41.

10.

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
11.

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.

12.

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat.

Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA.

Science. 2000 Sep 8;289(5485):1769-73.

13.

Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.

Frisch R, Singleton KR, Moses PA, Gonzalez IL, Carango P, Marks HG, Funanage VL.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):281-91.

PMID:
11592825
14.

MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing.

Goers ES, Purcell J, Voelker RB, Gates DP, Berglund JA.

Nucleic Acids Res. 2010 Apr;38(7):2467-84. doi: 10.1093/nar/gkp1209. Epub 2010 Jan 13.

15.

Analysis of exonic regions involved in nuclear localization, splicing activity, and dimerization of Muscleblind-like-1 isoforms.

Tran H, Gourrier N, Lemercier-Neuillet C, Dhaenens CM, Vautrin A, Fernandez-Gomez FJ, Arandel L, Carpentier C, Obriot H, Eddarkaoui S, Delattre L, Van Brussels E, Holt I, Morris GE, Sablonnière B, Buée L, Charlet-Berguerand N, Schraen-Maschke S, Furling D, Behm-Ansmant I, Branlant C, Caillet-Boudin ML, Sergeant N.

J Biol Chem. 2011 May 6;286(18):16435-46. doi: 10.1074/jbc.M110.194928. Epub 2011 Mar 18.

16.

Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties.

Groenen PJ, Wansink DG, Coerwinkel M, van den Broek W, Jansen G, Wieringa B.

Hum Mol Genet. 2000 Mar 1;9(4):605-16.

PMID:
10699184
17.

Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons.

Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA.

Hum Mol Genet. 2004 Dec 15;13(24):3079-88. Epub 2004 Oct 20.

PMID:
15496431
18.

Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila.

Houseley JM, Wang Z, Brock GJ, Soloway J, Artero R, Perez-Alonso M, O'Dell KM, Monckton DG.

Hum Mol Genet. 2005 Mar 15;14(6):873-83. Epub 2005 Feb 9.

PMID:
15703191
19.

Myotonic dystrophy: RNA pathogenesis comes into focus.

Ranum LP, Day JW.

Am J Hum Genet. 2004 May;74(5):793-804. Epub 2004 Apr 2. Review.

20.

RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy.

Sobczak K, Wheeler TM, Wang W, Thornton CA.

Mol Ther. 2013 Feb;21(2):380-7. doi: 10.1038/mt.2012.222. Epub 2012 Nov 27.

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