Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I.
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ABSTRACT:
SUBMITTER: Bondy-Chorney E
PROVIDER: S-EPMC5027583 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
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Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I.
Bondy-Chorney Emma E Crawford Parks Tara E TE Ravel-Chapuis Aymeric A Jasmin Bernard J BJ Côté Jocelyn J
Rare diseases (Austin, Tex.) 20160819 1
In a recent issue of <i>PLOS Genetics</i>, we reported that the double-stranded RNA-binding protein, Staufen1, functions as a disease modifier in the neuromuscular disorder Myotonic Dystrophy Type I (DM1). In this work, we demonstrated that Staufen1 regulates the alternative splicing of exon 11 of the human Insulin Receptor, a highly studied missplicing event in DM1, through Alu elements located in an intronic region. Furthermore, we found that Staufen1 overexpression regulates numerous alternat ...[more]
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