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Results: 1 to 20 of 103

Cited In for PubMed (Select 11929853)


Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms.

Dixon DM, Choi J, El-Ghazali A, Park SY, Roos KP, Jordan MC, Fishbein MC, Comai L, Reddy S.

Sci Rep. 2015 Mar 12;5:9042. doi: 10.1038/srep09042.


Molecular mechanisms in DM1 - a focus on foci.

Pettersson OJ, Aagaard L, Jensen TG, Damgaard CK.

Nucleic Acids Res. 2015 Feb 27;43(4):2433-41. doi: 10.1093/nar/gkv029. Epub 2015 Jan 20.


A common gene expression signature in Huntington¿s disease patient brain regions.

Neueder A, Bates GP.

BMC Med Genomics. 2014 Oct 30;7(1):60. [Epub ahead of print]


Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Gerstberger S, Hafner M, Ascano M, Tuschl T.

Adv Exp Med Biol. 2014;825:1-55. doi: 10.1007/978-1-4939-1221-6_1. Review.


MBNL proteins and their target RNAs, interaction and splicing regulation.

Konieczny P, Stepniak-Konieczna E, Sobczak K.

Nucleic Acids Res. 2014;42(17):10873-87. doi: 10.1093/nar/gku767. Epub 2014 Sep 2. Review.


Structural studies of CNG repeats.

Kiliszek A, Rypniewski W.

Nucleic Acids Res. 2014 Jul;42(13):8189-99. doi: 10.1093/nar/gku536. Epub 2014 Jun 17. Review.


DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1.

Pettersson OJ, Aagaard L, Andrejeva D, Thomsen R, Jensen TG, Damgaard CK.

Nucleic Acids Res. 2014 Jun;42(11):7186-200. doi: 10.1093/nar/gku352. Epub 2014 May 3.


Development of an AP-FRET based analysis for characterizing RNA-protein interactions in myotonic dystrophy (DM1).

Rehman S, Gladman JT, Periasamy A, Sun Y, Mahadevan MS.

PLoS One. 2014 Apr 29;9(4):e95957. doi: 10.1371/journal.pone.0095957. eCollection 2014.


Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.

Perfetti A, Greco S, Fasanaro P, Bugiardini E, Cardani R, Manteiga JM, Riba M, Cittaro D, Stupka E, Meola G, Martelli F.

PLoS One. 2014 Apr 10;9(4):e93983. doi: 10.1371/journal.pone.0093983. eCollection 2014.


Two enhancers control transcription of Drosophila muscleblind in the embryonic somatic musculature and in the central nervous system.

Bargiela A, Llamusi B, Cerro-Herreros E, Artero R.

PLoS One. 2014 Mar 25;9(3):e93125. doi: 10.1371/journal.pone.0093125. eCollection 2014.


Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy.

Caillet-Boudin ML, Fernandez-Gomez FJ, Tran H, Dhaenens CM, Buee L, Sergeant N.

Front Mol Neurosci. 2014 Jan 9;6:57. doi: 10.3389/fnmol.2013.00057. Review.


Mechanisms of toxicity in C9FTLD/ALS.

Gendron TF, Belzil VV, Zhang YJ, Petrucelli L.

Acta Neuropathol. 2014 Mar;127(3):359-76. doi: 10.1007/s00401-013-1237-z. Epub 2014 Jan 7. Review.


Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

Cardani R, Bugiardini E, Renna LV, Rossi G, Colombo G, Valaperta R, Novelli G, Botta A, Meola G.

PLoS One. 2013 Dec 20;8(12):e83777. doi: 10.1371/journal.pone.0083777. eCollection 2013.


Structure of the myotonic dystrophy type 2 RNA and designed small molecules that reduce toxicity.

Childs-Disney JL, Yildirim I, Park H, Lohman JR, Guan L, Tran T, Sarkar P, Schatz GC, Disney MD.

ACS Chem Biol. 2014 Feb 21;9(2):538-50. doi: 10.1021/cb4007387. Epub 2013 Dec 16.


Treatment of type 1 myotonic dystrophy by engineering site-specific RNA endonucleases that target (CUG)(n) repeats.

Zhang W, Wang Y, Dong S, Choudhury R, Jin Y, Wang Z.

Mol Ther. 2014 Feb;22(2):312-20. doi: 10.1038/mt.2013.251. Epub 2013 Oct 23.


High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines.

Ketley A, Chen CZ, Li X, Arya S, Robinson TE, Granados-Riveron J, Udosen I, Morris GE, Holt I, Furling D, Chaouch S, Haworth B, Southall N, Shinn P, Zheng W, Austin CP, Hayes CJ, Brook JD.

Hum Mol Genet. 2014 Mar 15;23(6):1551-62. doi: 10.1093/hmg/ddt542. Epub 2013 Oct 30.


RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention.

Donnelly CJ, Zhang PW, Pham JT, Haeusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM, Maragakis N, Tienari PJ, Petrucelli L, Traynor BJ, Wang J, Rigo F, Bennett CF, Blackshaw S, Sattler R, Rothstein JD.

Neuron. 2013 Oct 16;80(2):415-28. doi: 10.1016/j.neuron.2013.10.015. Erratum in: Neuron. 2013 Nov 20;80(4):1102. Heusler, Aaron R [corrected to Haeusler, Aaron R].


RNA binding proteins in the regulation of heart development.

Blech-Hermoni Y, Ladd AN.

Int J Biochem Cell Biol. 2013 Nov;45(11):2467-78. doi: 10.1016/j.biocel.2013.08.008. Epub 2013 Aug 20. Review. Erratum in: Int J Biochem Cell Biol. 2014 Oct;55:348.


Altered ribostasis: RNA-protein granules in degenerative disorders.

Ramaswami M, Taylor JP, Parker R.

Cell. 2013 Aug 15;154(4):727-36. doi: 10.1016/j.cell.2013.07.038. Review.

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