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Items: 1 to 20 of 81

1.

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.

2.

Systematic analysis of cis-elements in unstable mRNAs demonstrates that CUGBP1 is a key regulator of mRNA decay in muscle cells.

Lee JE, Lee JY, Wilusz J, Tian B, Wilusz CJ.

PLoS One. 2010 Jun 21;5(6):e11201. doi: 10.1371/journal.pone.0011201.

3.

Analysis of CUGBP1 targets identifies GU-repeat sequences that mediate rapid mRNA decay.

Rattenbacher B, Beisang D, Wiesner DL, Jeschke JC, von Hohenberg M, St Louis-Vlasova IA, Bohjanen PR.

Mol Cell Biol. 2010 Aug;30(16):3970-80. doi: 10.1128/MCB.00624-10. Epub 2010 Jun 14. Erratum in: Mol Cell Biol. 2016 Feb 15;36(4):660.

4.

Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1.

Logigian EL, Martens WB, Moxley RT 4th, McDermott MP, Dilek N, Wiegner AW, Pearson AT, Barbieri CA, Annis CL, Thornton CA, Moxley RT 3rd.

Neurology. 2010 May 4;74(18):1441-8. doi: 10.1212/WNL.0b013e3181dc1a3a.

5.

Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2.

Romeo V, Pegoraro E, Ferrati C, Squarzanti F, Sorarù G, Palmieri A, Zucchetta P, Antunovic L, Bonifazi E, Novelli G, Trevisan CP, Ermani M, Manara R, Angelini C.

J Neurol. 2010 Aug;257(8):1246-55. doi: 10.1007/s00415-010-5498-3. Epub 2010 Mar 11.

PMID:
20221771
6.

Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2.

Weber YG, Roebling R, Kassubek J, Hoffmann S, Rosenbohm A, Wolf M, Steinbach P, Jurkat-Rott K, Walter H, Reske SN, Lehmann-Horn F, Mottaghy FM, Lerche H.

Neurology. 2010 Apr 6;74(14):1108-17. doi: 10.1212/WNL.0b013e3181d8c35f. Epub 2010 Mar 10.

PMID:
20220122
7.

Repeat instability as the basis for human diseases and as a potential target for therapy.

López Castel A, Cleary JD, Pearson CE.

Nat Rev Mol Cell Biol. 2010 Mar;11(3):165-70. doi: 10.1038/nrm2854. Review.

PMID:
20177394
8.

Morpholinos and their peptide conjugates: therapeutic promise and challenge for Duchenne muscular dystrophy.

Moulton HM, Moulton JD.

Biochim Biophys Acta. 2010 Dec;1798(12):2296-303. doi: 10.1016/j.bbamem.2010.02.012. Epub 2010 Feb 17.

9.

Muscling in: Gene therapies for muscular dystrophy target RNA.

Chamberlain JR, Chamberlain JS.

Nat Med. 2010 Feb;16(2):170-1. doi: 10.1038/nm0210-170.

PMID:
20134472
10.

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.

Du H, Cline MS, Osborne RJ, Tuttle DL, Clark TA, Donohue JP, Hall MP, Shiue L, Swanson MS, Thornton CA, Ares M Jr.

Nat Struct Mol Biol. 2010 Feb;17(2):187-93. doi: 10.1038/nsmb.1720. Epub 2010 Jan 24.

11.

PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1.

Wang GS, Kuyumcu-Martinez MN, Sarma S, Mathur N, Wehrens XH, Cooper TA.

J Clin Invest. 2009 Dec;119(12):3797-806. doi: 10.1172/JCI37976. Epub 2009 Nov 9.

12.

Pentamidine reverses the splicing defects associated with myotonic dystrophy.

Warf MB, Nakamori M, Matthys CM, Thornton CA, Berglund JA.

Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18551-6. doi: 10.1073/pnas.0903234106. Epub 2009 Oct 12.

13.

Progress in therapeutic antisense applications for neuromuscular disorders.

Aartsma-Rus A, van Ommen GJ.

Eur J Hum Genet. 2010 Feb;18(2):146-53. doi: 10.1038/ejhg.2009.160. Epub 2009 Oct 7. Review.

14.

A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding.

Arambula JF, Ramisetty SR, Baranger AM, Zimmerman SC.

Proc Natl Acad Sci U S A. 2009 Sep 22;106(38):16068-73. doi: 10.1073/pnas.0901824106. Epub 2009 Sep 8.

15.

Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy.

Mulders SA, van den Broek WJ, Wheeler TM, Croes HJ, van Kuik-Romeijn P, de Kimpe SJ, Furling D, Platenburg GJ, Gourdon G, Thornton CA, Wieringa B, Wansink DG.

Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13915-20. doi: 10.1073/pnas.0905780106. Epub 2009 Aug 10.

16.

Absence of a differentiation defect in muscle satellite cells from DM2 patients.

Pelletier R, Hamel F, Beaulieu D, Patry L, Haineault C, Tarnopolsky M, Schoser B, Puymirat J.

Neurobiol Dis. 2009 Oct;36(1):181-90. doi: 10.1016/j.nbd.2009.07.009. Epub 2009 Jul 24.

PMID:
19632331
17.

Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA.

Wheeler TM, Sobczak K, Lueck JD, Osborne RJ, Lin X, Dirksen RT, Thornton CA.

Science. 2009 Jul 17;325(5938):336-9. doi: 10.1126/science.1173110.

18.

Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients.

Salisbury E, Schoser B, Schneider-Gold C, Wang GL, Huichalaf C, Jin B, Sirito M, Sarkar P, Krahe R, Timchenko NA, Timchenko LT.

Am J Pathol. 2009 Aug;175(2):748-62. doi: 10.2353/ajpath.2009.090047. Epub 2009 Jul 9.

19.

Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy.

Douniol M, Jacquette A, Guilé JM, Tanguy ML, Angeard N, Héron D, Plaza M, Cohen D.

Eur Child Adolesc Psychiatry. 2009 Dec;18(12):705-15. doi: 10.1007/s00787-009-0037-4. Epub 2009 Jun 19. Review.

PMID:
19543792
20.

Orthopaedic manifestations of congenital myotonic dystrophy during childhood and adolescence.

Canavese F, Sussman MD.

J Pediatr Orthop. 2009 Mar;29(2):208-13. doi: 10.1097/BPO.0b013e3181982bf6.

PMID:
19352249

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