scholarly journals Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy

2005 ◽  
Vol 118 (13) ◽  
pp. 2923-2933 ◽  
Author(s):  
T. H. Ho
Keyword(s):  
Alternative Splicing ◽  
Myotonic Dystrophy ◽  
Rna Foci

scholarly journals Genome Wide Identification of Aberrant Alternative Splicing Events in Myotonic Dystrophy Type 2

PLoS ONE ◽  
2014 ◽  
Vol 9 (4) ◽  
pp. e93983 ◽  
Author(s):  
Alessandra Perfetti ◽  
Simona Greco ◽  
Pasquale Fasanaro ◽  
Enrico Bugiardini ◽  
Rosanna Cardani ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type ◽  
Myotonic Dystrophy Type 2 ◽  
Genome Wide ◽  
Alternative Splicing Events

Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy

2011 ◽  
Vol 409 (1) ◽  
pp. 64-69 ◽  
Author(s):  
Natsumi Ohsawa ◽  
Michinori Koebis ◽  
Satoshi Suo ◽  
Ichizo Nishino ◽  
Shoichi Ishiura
Keyword(s):  
Alternative Splicing ◽  
Myotonic Dystrophy ◽  
Lim Protein

scholarly journals Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy

2015 ◽  
Vol 43 (6) ◽  
pp. 3318-3331 ◽  
Author(s):  
Agnieszka Wojtkowiak-Szlachcic ◽  
Katarzyna Taylor ◽  
Ewa Stepniak-Konieczna ◽  
Lukasz J. Sznajder ◽  
Agnieszka Mykowska ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Nucleic Acids ◽  
Myotonic Dystrophy ◽  
Correct Alternative ◽  
Locked Nucleic Acids

scholarly journals Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy

2017 ◽  
Vol 58 (11) ◽  
pp. 4579 ◽  
Author(s):  
V. Vinod Mootha ◽  
Brock Hansen ◽  
Ziye Rong ◽  
Pradeep P. Mammen ◽  
Zhengyang Zhou ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Corneal Dystrophy ◽  
Rna Foci

scholarly journals Zebrafish mbnl mutants model physical and molecular phenotypes of myotonic dystrophy

2019 ◽  
Author(s):  
Melissa N. Hinman ◽  
Jared I. Richardson ◽  
Rose A. Sockol ◽  
Eliza D Aronson ◽  
Sarah J. Stednitz ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Myotonic Dystrophy ◽  
Protein Function ◽  
Rna Binding ◽  
Rna Binding Proteins ◽  
Genetic Disorder ◽  
Loss Of Function ◽  
High Fecundity ◽  
Molecular Phenotypes ◽  
Human Genetic Disorder

AbstractThe muscleblind RNA binding proteins (MBNL1, MBNL2, and MBNL3) are highly conserved across vertebrates and are important regulators of RNA alternative splicing. Loss of MBNL protein function through sequestration by CUG or CCUG RNA repeats is largely responsible for the phenotypes of the human genetic disorder myotonic dystrophy (DM). We generated the first stable zebrafish (Danio rerio) models of DM-associated MBNL loss of function through mutation of the three zebrafish mbnl genes. In contrast to mouse models, zebrafish double and triple homozygous mbnl mutants were viable to adulthood. Zebrafish mbnl mutants displayed disease-relevant physical phenotypes including decreased body size and impaired movement. They also exhibited widespread alternative splicing changes, including the misregulation of many DM-relevant exons. Physical and molecular phenotypes were more severe in compound mbnl mutants than in single mbnl mutants, suggesting partially redundant functions of Mbnl proteins. The high fecundity and larval optical transparency of this complete series of zebrafish mbnl mutants will make them useful for studying DM-related phenotypes and how individual Mbnl proteins contribute to them, and for testing potential therapeutics.

scholarly journals BNANC Gapmers Revert Splicing and Reduce RNA Foci with Low Toxicity in Myotonic Dystrophy Cells

2017 ◽  
Vol 12 (10) ◽  
pp. 2503-2509 ◽  
Author(s):  
Kassie S. Manning ◽  
Ashish N. Rao ◽  
Miguel Castro ◽  
Thomas A. Cooper
Keyword(s):  
Myotonic Dystrophy ◽  
Rna Foci ◽  
Low Toxicity
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