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| mice expressing the CUG expansion in an unrelated mRNA develop myotonia and myopathy, and show abnormal tau expression in the brain  | |
overexpression of the DMPK 3'-UTR including either wild-type (11) or expanded (91) CTG repeats results in aberrant and delayed muscle development in fetal transgenic mice, and mice display muscle atrophy at 3 months of age |
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overexpression of DMPK mRNA and protein transgene products in cardiac, skeletal and smooth muscles of transgenic murine line carrying approximately 25 extra copies of a complete hDMPK gene with all exons and an intact promoter region resulted in deficient exercise endurance, hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy |
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PLN is hypo-phosphorylated in SR vesicles from DMPK(-/-) mice compared with wild-type mice |
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mice overexpressing a normal DMPK 3' UTR mRNA reproduced cardinal features of myotonic dystrophy, including myotonia, cardiac conduction abnormalities, histopathology and RNA splicing defects in the absence of detectable nuclear inclusion |
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inductible DM1 mouse model misregulation of developmentally regulated alternative splicing events, myotonia, characteristic histological abnormalities, and increased CUGBP1 protein levels |
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Overexpression of DMPK induces cell rounding and apoptosis in myocytes |
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Overexpression of DMPK in HeLa cells or C2C12 myoblasts disrupts Lamin-A/C and Lamin-B1 localization and causes nuclear fragmentation, and depletion of DMPK disrupts nuclear envelope lamina |