Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model

@article{Donadon2018ExonspecificUS,
  title={Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model},
  author={Irving Donadon and Mirko Pinotti and Katarzyna Rajkowska and Giulia Pianigiani and Elena Barbon and Elisabetta Morini and Helena Motaln and Boris Rogelj and Federico Mingozzi and Susan A. Slaugenhaupt and Franco Pagani},
  journal={Human Molecular Genetics},
  year={2018},
  volume={27},
  pages={2466 - 2476}
}
Abstract Familial dysautonomia (FD) is a rare genetic disease with no treatment, caused by an intronic point mutation (c.2204+6T>C) that negatively affects the definition of exon 20 in the elongator complex protein 1 gene (ELP1 also known as IKBKAP). This substitution modifies the 5′ splice site and, in combination with regulatory splicing factors, induces different levels of exon 20 skipping, in various tissues. Here, we evaluated the therapeutic potential of a novel class of U1 snRNA… 

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