Ontology highlight
ABSTRACT:
SUBMITTER: Martone J
PROVIDER: S-EPMC7411655 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Martone Julie J Lisi Michela M Castagnetti Francesco F Rosa Alessandro A Di Carlo Valerio V Blanco Enrique E Setti Adriano A Mariani Davide D Colantoni Alessio A Santini Tiziana T Perone Lucia L Di Croce Luciano L Bozzoni Irene I
EMBO molecular medicine 20200629 8
Exon skipping is an effective strategy for the treatment of many Duchenne Muscular Dystrophy (DMD) mutations. Natural exon skipping observed in several DMD cases can help in identifying novel therapeutic tools. Here, we show a DMD study case where the lack of a splicing factor (Celf2a), which results in exon skipping and dystrophin rescue, is due to a maternally inherited trans-generational epigenetic silencing. We found that the study case and his mother express a repressive long non-coding RNA ...[more]