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My research interests centre of the cell biology of skeletal muscle, with specific interest in the mechanisms involved in the repair and regeneration of muscle in a variety of myopathic conditions. This has led, over the years my contributing a number of major research developments that have improved our understanding of muscular dystrophy and intiated two of the potential therapeutic approaches t being trialled in DMD boys.
The first of these was myogenic stem cell transplantation, on which we collaborated with Eric Hoffman. The second is antisense mediated exon-skipping to restore expression of the dystrophin gene, where, in collaboration with Steve Wilton in Perth, we demonstrated that this approach was able to generate expression of functionally useful amounts of dystrophin protein from mutant dystrophin genes. We have continued this second line of research and are currently investigating the mechanisms that underlie entry of antisense constructs into muscle fibres.
The first of these was myogenic stem cell transplantation, on which we collaborated with Eric Hoffman. The second is antisense mediated exon-skipping to restore expression of the dystrophin gene, where, in collaboration with Steve Wilton in Perth, we demonstrated that this approach was able to generate expression of functionally useful amounts of dystrophin protein from mutant dystrophin genes. We have continued this second line of research and are currently investigating the mechanisms that underlie entry of antisense constructs into muscle fibres.
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bioRxiv : the preprint server for biologyno. 1 (2023): 224-224
bioRxiv (Cold Spring Harbor Laboratory) (2023)
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Margaret E Benny Klimek,Maria Candida Vila,Katie Edwards,Jessica Boehler,James Novak,Aiping Zhang, Jack H Van der Mulen, Kathleen Tatum,James Quinn,Alyson Fiorillo, Umar Burki,Volker Straub,
Gene Therapypp.301-315, (2020)
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