HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is a genetic disorder characterized by muscle wasting, myotonia, cataracts, cardiac arrhythmia, hyperinsulinism and intellectual deficits, and is caused by expansion of a CTG repeat in the 3’UTR of the Dystrophia Myotonica-Protein Kinase (DMPK) gene. The DMPK transcri...

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Hlavní autoři: O’Leary, Debra A., Vargas, Leonardo, Sharif, Orzala, Garcia, Michael E., Sigal, Yury J., Chow, Siu-Kei, Schmedt, Christian, Caldwell, Jeremy S., Brinker, Achim, Engels, Ingo H.
Médium: Artigo
Jazyk:Inglês
Vydáno: Bentham Open 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2874217/
https://ncbi.nlm.nih.gov/pubmed/20502647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2174/1875397301004010009
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