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Gene Review

Mbnl1  -  muscleblind-like 1 (Drosophila)

Mus musculus

Synonyms: Exp, Mbnl, Muscleblind-like protein 1, Triplet-expansion RNA-binding protein, mKIAA0428
 
 
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High impact information on Mbnl1

  • Here, we show that overexpression of Mbnl1 in vivo mediated by transduction of skeletal muscle with a recombinant adeno-associated viral vector rescues disease-associated muscle hyperexcitability, or myotonia, in the HSA(LR) poly(CUG) mouse model for DM [1].
  • Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3 [2].
  • Mutant DM transcripts are retained in the nucleus together with the muscleblind (Mbnl) proteins, and these abnormal RNAs somehow interfere with pre-mRNA splicing regulation [3].
 

Biological context of Mbnl1

  • Here, we show that disruption of the mouse Mbnl1 gene leads to muscle, eye, and RNA splicing abnormalities that are characteristic of DM disease [3].

References

  1. Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Kanadia, R.N., Shin, J., Yuan, Y., Beattie, S.G., Wheeler, T.M., Thornton, C.A., Swanson, M.S. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  2. Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3. Kanadia, R.N., Urbinati, C.R., Crusselle, V.J., Luo, D., Lee, Y.J., Harrison, J.K., Oh, S.P., Swanson, M.S. Gene Expr. Patterns (2003) [Pubmed]
  3. A muscleblind knockout model for myotonic dystrophy. Kanadia, R.N., Johnstone, K.A., Mankodi, A., Lungu, C., Thornton, C.A., Esson, D., Timmers, A.M., Hauswirth, W.W., Swanson, M.S. Science (2003) [Pubmed]
 
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