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Search: L773:1097 4172 > Uppsala University > Lindblad Toh Kerstin

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  • Vieira, Natassia M., et al. (author)
  • Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype
  • 2015
  • In: Cell. - : Elsevier BV. - 0092-8674 .- 1097-4172. ; 163:5, s. 1204-1213
  • Journal article (peer-reviewed)abstract
    • Duchenne muscular dystrophy (DMD), caused by mutations at the dystrophin gene, is the most common form of muscular dystrophy. There is no cure for DMD and current therapeutic approaches to restore dystrophin expression are only partially effective. The absence of dystrophin in muscle results in dysregulation of signaling pathways, which could be targets for disease therapy and drug discovery. Previously, we identified two exceptional Golden Retriever muscular dystrophy (GRMD) dogs that are mildly affected, have functional muscle, and normal lifespan despite the complete absence of dystrophin. Now, our data on linkage, whole-genome sequencing, and transcriptome analyses of these dogs compared to severely affected GRMD and control animals reveals that increased expression of Jagged1 gene, a known regulator of the Notch signaling pathway, is a hallmark of the mild phenotype. Functional analyses demonstrate that Jagged1 overexpression ameliorates the dystrophic phenotype, suggesting that Jagged1 may represent a target for DMD therapy in a dystrophin-independent manner.
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