Affiliation: Adam Mickiewicz University
- RNA interference targeting CUG repeats in a mouse model of myotonic dystrophyKrzysztof Sobczak
Department of Neurology, University of Rochester Medical Center, Rochester, New York 14642, USA
Mol Ther 21:380-7. 2013..These data suggest that the expanded CUG repeats are a potential target for allele-selective RNA interference...
- Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channelZhen Zhi Tang
Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA
Hum Mol Genet 21:1312-24. 2012..Together, these results indicate that DM-associated splicing defects alter Ca(V)1.1 function, with potential for exacerbation of myopathy...
- Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophyRobert J Osborne
Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
Hum Mol Genet 18:1471-81. 2009....
- Splicing biomarkers of disease severity in myotonic dystrophyMasayuki Nakamori
Department of Neurology, University of Rochester Medical Center, Rochester, NY Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY
Ann Neurol 74:862-72. 2013..To develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2)...
- Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNAThurman M Wheeler
Departments of Neurology, Pharmacology and Physiology, University of Rochester, Rochester, NY 14642, USA
Science 325:336-9. 2009..These findings suggest an alternative use of antisense methods, to inhibit deleterious interactions of proteins with pathogenic RNAs...
- Dynamic combinatorial selection of molecules capable of inhibiting the (CUG) repeat RNA-MBNL1 interaction in vitro: discovery of lead compounds targeting myotonic dystrophy (DM1)Peter C Gareiss
Department of Biochemistry and Biophysics, University of Rochester, Rochester, New York 14642, USA
J Am Chem Soc 130:16254-61. 2008..These compounds were also able to inhibit the interaction of GGG-(CUG)(109)-GGG RNA with MBNL1 in vitro, with K(i) values in the low micromolar range...
- Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2Masayuki Nakamori
Department of Neurology, Box 673, University of Rochester Medical Center, Rochester, NY 14642, USA
Neuromuscul Disord 19:759-62. 2009..These methods can facilitate genetic analysis in cells and tissues obtained from individuals with myotonic dystrophy...
- Lomofungin and dilomofungin: inhibitors of MBNL1-CUG RNA binding with distinct cellular effectsJason W Hoskins
Department of Neurology, University of Rochester, Rochester, NY 14642, USA
Nucleic Acids Res 42:6591-602. 2014..These results support the feasibility of high-throughput screens to identify compounds targeting toxic RNA, but also demonstrate that ligands for repetitive sequences may have unexpected effects on RNA decay. ..