Molecular mechanisms of muscle atrophy in myotonic dystrophies.
Houston, United States. In Int J Biochem Cell Biol, 31 Oct 2013
These expansions cause DM pathologies through accumulation of mutant RNAs that alter RNA metabolism in patients' tissues by targeting RNA-binding proteins such as CUG-binding protein 1 (CUGBP1) and Muscle blind-like protein 1 (MBNL1).
Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity.
Charlottesville, United States. In Hum Mol Genet, 02 Oct 2013
The toxic RNA transcripts produced from the mutant allele alter the function of RNA binding proteins leading to the depletion of muscleblind-like (MBNL) proteins and an increase in steady state levels of CUG-BP1 (CUGBP-ETR-3 like factor 1 (CELF1)).
Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell lines.
Seattle, United States. In Nat Genet, 2008
An unbiased, systematic screen of 21,760 4-mer to 7-mer words for cis-regulatory motifs identified 143 RNA 'words' enriched near regulated cassette exons, including six clusters of motifs represented by UCUCU, UGCAUG, UGCU, UGUGU, UUUU and AGGG, which map to trans-acting regulators PTB, Fox, Muscleblind, CELF/CUG-BP, TIA-1 and hnRNP F/H, respectively.