Ontology highlight
ABSTRACT:
SUBMITTER: Miro J
PROVIDER: S-EPMC4344520 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
Miro Julie J Laaref Abdelhamid Mahdi AM Rofidal Valérie V Lagrafeuille Rosyne R Hem Sonia S Thorel Delphine D Méchin Déborah D Mamchaoui Kamel K Mouly Vincent V Claustres Mireille M Tuffery-Giraud Sylvie S
Nucleic acids research 20150206 4
We investigated the molecular mechanisms for in-frame skipping of DMD exon 39 caused by the nonsense c.5480T>A mutation in a patient with Becker muscular dystrophy. RNase-assisted pull down assay coupled with mass spectrometry revealed that the mutant RNA probe specifically recruits hnRNPA1, hnRNPA2/B1 and DAZAP1. Functional studies in a human myoblast cell line transfected with DMD minigenes confirmed the splicing inhibitory activity of hnRNPA1 and hnRNPA2/B1, and showed that DAZAP1, also known ...[more]