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Items: 1 to 20 of 101

1.

Transcriptome alterations in myotonic dystrophy skeletal muscle and heart.

Wang ET, Treacy D, Eichinger K, Struck A, Estabrook J, Olafson H, Wang TT, Bhatt K, Westbrook T, Sedehizadeh S, Ward A, Day J, Brook D, Berglund JA, Cooper T, Housman D, Thornton C, Burge C.

Hum Mol Genet. 2019 Apr 15;28(8):1312-1321. doi: 10.1093/hmg/ddy432.

PMID:
30561649
2.

Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy.

Machuca-Tzili LE, Buxton S, Thorpe A, Timson CM, Wigmore P, Luther PK, Brook JD.

Dis Model Mech. 2011 May;4(3):381-92. doi: 10.1242/dmm.004150. Epub 2011 Feb 8.

3.

Myotonic dystrophy types 1 and 2.

Ashizawa T, Sarkar PS.

Handb Clin Neurol. 2011;101:193-237. doi: 10.1016/B978-0-08-045031-5.00015-3. Review.

PMID:
21496635
4.

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.

Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N.

Nat Commun. 2018 May 22;9(1):2009. doi: 10.1038/s41467-018-04370-x.

5.

Expanded CCUG repeat RNA expression in Drosophila heart and muscle trigger Myotonic Dystrophy type 1-like phenotypes and activate autophagocytosis genes.

Cerro-Herreros E, Chakraborty M, Pérez-Alonso M, Artero R, Llamusí B.

Sci Rep. 2017 Jun 6;7(1):2843. doi: 10.1038/s41598-017-02829-3.

6.

(CCUG)n RNA toxicity in a Drosophila model of myotonic dystrophy type 2 (DM2) activates apoptosis.

Yenigun VB, Sirito M, Amcheslavky A, Czernuszewicz T, Colonques-Bellmunt J, García-Alcover I, Wojciechowska M, Bolduc C, Chen Z, López Castel A, Krahe R, Bergmann A.

Dis Model Mech. 2017 Aug 1;10(8):993-1003. doi: 10.1242/dmm.026179. Epub 2017 Jun 16.

7.

Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy.

Kuyumcu-Martinez NM, Cooper TA.

Prog Mol Subcell Biol. 2006;44:133-59. Review.

8.

Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2.

Cardani R, Mancinelli E, Rotondo G, Sansone V, Meola G.

Eur J Histochem. 2006 Jul-Sep;50(3):177-82.

9.

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.

10.

Pathogenic mechanisms of myotonic dystrophy.

Lee JE, Cooper TA.

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

11.

Muscle wasting in myotonic dystrophies: a model of premature aging.

Mateos-Aierdi AJ, Goicoechea M, Aiastui A, Fernández-Torrón R, Garcia-Puga M, Matheu A, López de Munain A.

Front Aging Neurosci. 2015 Jul 9;7:125. doi: 10.3389/fnagi.2015.00125. eCollection 2015. Review.

12.

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.

13.
14.

Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy.

Chakraborty M, Sellier C, Ney M, Pascal V, Charlet-Berguerand N, Artero R, Llamusi B.

Dis Model Mech. 2018 Apr 23;11(4). pii: dmm032557. doi: 10.1242/dmm.032557. Erratum in: Dis Model Mech. 2018 May 18;11(5):.

15.

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
16.

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
17.

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice.

Jauvin D, Chrétien J, Pandey SK, Martineau L, Revillod L, Bassez G, Lachon A, MacLeod AR, Gourdon G, Wheeler TM, Thornton CA, Bennett CF, Puymirat J.

Mol Ther Nucleic Acids. 2017 Jun 16;7:465-474. doi: 10.1016/j.omtn.2017.05.007. Epub 2017 May 17.

18.
19.

Molecular mechanisms of muscle atrophy in myotonic dystrophies.

Timchenko L.

Int J Biochem Cell Biol. 2013 Oct;45(10):2280-7. doi: 10.1016/j.biocel.2013.06.010. Epub 2013 Jun 21. Review.

20.

[Molecular pathways to myotonic dystrophy].

Ishiura S.

Nihon Rinsho. 2005 Mar;63(3):515-21. Review. Japanese.

PMID:
15773354

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