Article
The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5.
Human gene therapy. Clinical development - 1 Jun 2013
Monjaret François, Suel-Petat Laurence, Bourg-Alibert Nathalie, Vihola Anna, Marchand Sylvie, Roudaut Carinne, Gicquel Evelyne, Udd Bjarne, Richard Isabelle, Charton Karine
Abstract excerpt
Mutations in dysferlin and anoctamin 5 are the cause of muscular disorders, with the main presentations as limb-girdle muscular dystrophy or Miyoshi type of distal myopathy. Both these proteins have been implicated in sarcolemmal resealing. On the basis of similarities in associated phenotypes and protein functions, we tested the hypothesis that ANO5 protein could compensate for dysferlin absence. We first...
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