Identification of Two Nuclear Proteins Which Bind to RNA CUG Repeats: Significance for Myotonic Dystrophy

1996 ◽  
Vol 228 (1) ◽  
pp. 55-62 ◽  
Author(s):  
Satyakam Bhagwati ◽  
Ashwini Ghatpande ◽  
Betty Leung
Keyword(s):  
Myotonic Dystrophy ◽  
Nuclear Proteins ◽  
Cug Repeats

scholarly journals Computational Investigation of RNA CUG Repeats Responsible for Myotonic Dystrophy 1

2015 ◽  
Vol 11 (10) ◽  
pp. 4943-4958 ◽  
Author(s):  
Ilyas Yildirim ◽  
Debayan Chakraborty ◽  
Matthew D. Disney ◽  
David J. Wales ◽  
George C. Schatz
Keyword(s):  
Myotonic Dystrophy ◽  
Computational Investigation ◽  
Cug Repeats

scholarly journals Expanded CUG Repeats Trigger Aberrant Splicing of ClC-1 Chloride Channel Pre-mRNA and Hyperexcitability of Skeletal Muscle in Myotonic Dystrophy

2002 ◽  
Vol 10 (1) ◽  
pp. 35-44 ◽  
Author(s):  
Ami Mankodi ◽  
Masanori P. Takahashi ◽  
Hong Jiang ◽  
Carol L. Beck ◽  
William J. Bowers ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Myotonic Dystrophy ◽  
Chloride Channel ◽  
Aberrant Splicing ◽  
Cug Repeats

scholarly journals Novel Proteins with Binding Specificity for DNA CTG Repeats And RNA Cug Repeats: Implications for Myotonic Dystrophy

1996 ◽  
Vol 5 (1) ◽  
pp. 115-121 ◽  
Author(s):  
L. T. Timchenko ◽  
N. A. Timchenko ◽  
C. T. Caskey ◽  
R. Roberts
Keyword(s):  
Myotonic Dystrophy ◽  
Binding Specificity ◽  
Ctg Repeats ◽  
Novel Proteins ◽  
Cug Repeats

The use of buccal cells for rapid diagnosis of myotonic dystrophy type 1

2010 ◽  
Vol 1 (3) ◽  
Author(s):  
Ian Holt ◽  
Ros Quinlivan ◽  
Jillian Couto ◽  
Darren Monckton ◽  
Glenn Morris
Keyword(s):  
Myotonic Dystrophy ◽  
In Situ Hybridisation ◽  
Rapid Test ◽  
Buccal Cells ◽  
Autosomal Dominant Disorder ◽  
Nuclear Foci ◽  
Cug Repeats ◽  
Positive Results

AbstractType 1 myotonic dystrophy (DM1) is an autosomal dominant disorder caused by a CTG repeat expansion. RNA containing expanded CUG repeats does not leave the nucleus, but accumulates in discrete nuclear foci which sequester the human muscleblind-like (MBNL) proteins. We have examined buccal cells from 15 adult DM1 patients and 7 control non-DM patients to determine whether nuclear foci can be detected by either immunostaining for MBNL1 protein or fluorescent in situ hybridisation (FISH) for the CUG repeat RNA. Both methods detected nuclear foci in all three early-onset patients, but only in a minority of 12 less severe DM1 patients. There were no false-positive results in the 7 controls. Although the method does not reliably identify all DM1 patients, it may prove useful as a rapid test for severe congenital DM1 in floppy babies.

scholarly journals A Potent Inhibitor of Protein Sequestration by Expanded Triplet (CUG) Repeats that Shows Phenotypic Improvements in aDrosophilaModel of Myotonic Dystrophy

ChemMedChem ◽  
2016 ◽  
Vol 11 (13) ◽  
pp. 1428-1435 ◽  
Author(s):  
Long M. Luu ◽  
Lien Nguyen ◽  
Shaohong Peng ◽  
JuYeon Lee ◽  
Hyang Yeon Lee ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Potent Inhibitor ◽  
Protein Sequestration ◽  
Cug Repeats

scholarly journals Structural insights into CUG repeats containing the ‘stretched U–U wobble’: implications for myotonic dystrophy

2009 ◽  
Vol 37 (12) ◽  
pp. 4149-4156 ◽  
Author(s):  
Agnieszka Kiliszek ◽  
Ryszard Kierzek ◽  
Wlodzimierz J. Krzyzosiak ◽  
Wojciech Rypniewski
Keyword(s):  
Myotonic Dystrophy ◽  
Cug Repeats ◽  
Structural Insights
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