Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

Enzo Ricci, Karen Anthony, Virginia Arechavala-Gomeza, Valeria Ricotti, Silvia Torelli, Lucy Feng, Narinder Janghra, Giorgio Tasca, Michela Guglieri, Rita Barresi, Annarita Armaroli, Alessandra Ferlini, Katherine Bushby, Volker Straub, Caroline Sewry, Jennifer Morgan, Francesco Muntoni

Risultato della ricerca: Contributo in rivistaArticolo in rivista

40 Citazioni (Scopus)

Abstract

In Duchenne muscular dystrophy (DMD), the reading frame of an out-of-frame DMD deletion can be repaired by antisense oligonucleotide (AO)-mediated exon skipping. This creates a shorter dystrophin protein, similar to those expressed in the milder Becker muscular dystrophy (BMD). The skipping of some exons may be more efficacious than others. Patients with exon 44 or 45 skippable deletions (AOs in clinical development) have a less predictable phenotype than those skippable for exon 51, a group in advanced clinical trials. A way to predict the potential of AOs is the study of patients with BMD who have deletions that naturally mimic those that would be achieved by exon skipping.
Lingua originaleEnglish
pagine (da-a)32-40
Numero di pagine9
RivistaJAMA Neurology
Volume71
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • Adolescent
  • Adult
  • Biological Markers
  • Child
  • Child, Preschool
  • Dystrophin
  • Exons
  • Humans
  • Male
  • Muscle, Skeletal
  • Muscular Dystrophies
  • Muscular Dystrophy, Duchenne
  • Oligonucleotides, Antisense
  • Phenotype
  • RNA, Messenger
  • Retrospective Studies
  • Sequence Deletion
  • Young Adult

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