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Items: 1 to 20 of 143


Staufen1 Regulates Multiple Alternative Splicing Events either Positively or Negatively in DM1 Indicating Its Role as a Disease Modifier.

Bondy-Chorney E, Crawford Parks TE, Ravel-Chapuis A, Klinck R, Rocheleau L, Pelchat M, Chabot B, Jasmin BJ, Côté J.

PLoS Genet. 2016 Jan 29;12(1):e1005827. doi: 10.1371/journal.pgen.1005827. eCollection 2016 Jan.


The first crystal structures of RNA-PNA duplexes and a PNA-PNA duplex containing mismatches-toward anti-sense therapy against TREDs.

Kiliszek A, Banaszak K, Dauter Z, Rypniewski W.

Nucleic Acids Res. 2016 Feb 29;44(4):1937-43. doi: 10.1093/nar/gkv1513. Epub 2015 Dec 29.


Actinomycin D Specifically Reduces Expanded CUG Repeat RNA in Myotonic Dystrophy Models.

Siboni RB, Nakamori M, Wagner SD, Struck AJ, Coonrod LA, Harriott SA, Cass DM, Tanner MK, Berglund JA.

Cell Rep. 2015 Dec 22;13(11):2386-94. doi: 10.1016/j.celrep.2015.11.028. Epub 2015 Dec 10.


Watson-Crick-like pairs in CCUG repeats: evidence for tautomeric shifts or protonation.

Rypniewski W, Banaszak K, Kuliński T, Kiliszek A.

RNA. 2016 Jan;22(1):22-31. doi: 10.1261/rna.052399.115. Epub 2015 Nov 5.


Muscleblind-Like 1 and Muscleblind-Like 3 Depletion Synergistically Enhances Myotonia by Altering Clc-1 RNA Translation.

Choi J, Personius KE, DiFranco M, Dansithong W, Yu C, Srivastava S, Dixon DM, Bhatt DB, Comai L, Vergara JL, Reddy S.

EBioMedicine. 2015 Jul 31;2(9):1034-47. doi: 10.1016/j.ebiom.2015.07.028. eCollection 2015 Sep.


Drosophila as an In Vivo Model for Human Neurodegenerative Disease.

McGurk L, Berson A, Bonini NM.

Genetics. 2015 Oct;201(2):377-402. doi: 10.1534/genetics.115.179457.


Paraspeckles: paragons of functional aggregation.

Courchaine E, Neugebauer KM.

J Cell Biol. 2015 Aug 17;210(4):527-8. doi: 10.1083/jcb.201507052.


In Vitro Expansion of CAG, CAA, and Mixed CAG/CAA Repeats.

Figura G, Koscianska E, Krzyzosiak WJ.

Int J Mol Sci. 2015 Aug 11;16(8):18741-51. doi: 10.3390/ijms160818741.


RNA Structures as Mediators of Neurological Diseases and as Drug Targets.

Bernat V, Disney MD.

Neuron. 2015 Jul 1;87(1):28-46. doi: 10.1016/j.neuron.2015.06.012. Review.


Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy.

Bisset DR, Stepniak-Konieczna EA, Zavaljevski M, Wei J, Carter GT, Weiss MD, Chamberlain JR.

Hum Mol Genet. 2015 Sep 1;24(17):4971-83. doi: 10.1093/hmg/ddv219. Epub 2015 Jun 16.


RNA-Binding Proteins: Splicing Factors and Disease.

Fredericks AM, Cygan KJ, Brown BA, Fairbrother WG.

Biomolecules. 2015 May 13;5(2):893-909. doi: 10.3390/biom5020893. Review.


Dynamic changes of nuclear RNA foci in proliferating DM1 cells.

Xia G, Ashizawa T.

Histochem Cell Biol. 2015 Jun;143(6):557-64. doi: 10.1007/s00418-015-1315-5. Epub 2015 Feb 26.


Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells.

Xia G, Gao Y, Jin S, Subramony SH, Terada N, Ranum LP, Swanson MS, Ashizawa T.

Stem Cells. 2015 Jun;33(6):1829-38. doi: 10.1002/stem.1970.


Development of a Drosophila melanogaster spliceosensor system for in vivo high-throughput screening in myotonic dystrophy type 1.

García-Alcover I, Colonques-Bellmunt J, Garijo R, Tormo JR, Artero R, Álvarez-Abril MC, López Castel A, Pérez-Alonso M.

Dis Model Mech. 2014 Nov;7(11):1297-306. doi: 10.1242/dmm.016592. Epub 2014 Sep 19.


RNA-binding protein misregulation in microsatellite expansion disorders.

Goodwin M, Swanson MS.

Adv Exp Med Biol. 2014;825:353-88. doi: 10.1007/978-1-4939-1221-6_10. Review.


NKX2-5, a modifier of skeletal muscle pathology due to RNA toxicity.

Gladman JT, Yadava RS, Mandal M, Yu Q, Kim YK, Mahadevan MS.

Hum Mol Genet. 2015 Jan 1;24(1):251-64. doi: 10.1093/hmg/ddu443. Epub 2014 Aug 28.


The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.

Sellier C, Usdin K, Pastori C, Peschansky VJ, Tassone F, Charlet-Berguerand N.

J Neurodev Disord. 2014;6(1):23. doi: 10.1186/1866-1955-6-23. Epub 2014 Jul 30. Review.


Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers.

Elizur SE, Lebovitz O, Derech-Haim S, Dratviman-Storobinsky O, Feldman B, Dor J, Orvieto R, Cohen Y.

PLoS One. 2014 Aug 25;9(8):e105121. doi: 10.1371/journal.pone.0105121. eCollection 2014.


GSK3β is a new therapeutic target for myotonic dystrophy type 1.

Wei C, Jones K, Timchenko NA, Timchenko L.

Rare Dis. 2013 Sep 26;1:e26555. doi: 10.4161/rdis.26555. eCollection 2013.


CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome.

Galloway JN, Shaw C, Yu P, Parghi D, Poidevin M, Jin P, Nelson DL.

Hum Mol Genet. 2014 Nov 15;23(22):5906-15. doi: 10.1093/hmg/ddu314. Epub 2014 Jun 30.

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