Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3' splice sites.

@article{Philippi2015DysferlinRB,
  title={Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3' splice sites.},
  author={Susanne Philippi and St{\'e}phanie Lorain and Cyriaque Beley and C{\'e}cile Peccate and Guillaume Pr{\'e}cigout and Simone Spuler and Luis Gonz{\'a}lez Garc{\'i}a},
  journal={Human molecular genetics},
  year={2015},
  volume={24 14},
  pages={4049-60}
}
The modification of the pre-mRNA cis-splicing process employing a pre-mRNA trans-splicing molecule (PTM) is an attractive strategy for the in situ correction of genes whose careful transcription regulation and full-length expression is determinative for protein function, as it is the case for the dysferlin (DYSF, Dysf) gene. Loss-of-function mutations of DYSF result in different types of muscular dystrophy mainly manifesting as limb girdle muscular dystrophy 2B (LGMD2B) and Miyoshi muscular… CONTINUE READING
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