Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6022508 | Neurobiology of Disease | 2012 | 8 Pages |
Abstract
⺠A splicing unbalance of the MYH14 gene has been reported in DM1 muscles. ⺠DM1 patients over-express a MYH14 isoform encoding for a protein with lower activity. ⺠MYH14 mRNA and protein levels are reduced in DM1 muscles compared to controls. ⺠The subcellular localization of the NMHC II-C protein is not altered in DM1 muscles. ⺠Levels of MBNL1 protein regulate the splicing of MYH14 transcript.
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Authors
F. Rinaldi, C. Terracciano, V. Pisani, R. Massa, E. Loro, L. Vergani, S. Di Girolamo, C. Angelini, G. Gourdon, G. Novelli, A. Botta,