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@ARTICLE{Toms:276937,
      author       = {M. Toms and L. Toualbi and P. V. Almeida$^*$ and R.
                      Harbottle$^*$ and M. Moosajee},
      title        = {{S}uccessful large gene augmentation of {USH}2{A} with
                      non-viral episomal vectors.},
      journal      = {Molecular therapy},
      volume       = {31},
      number       = {9},
      issn         = {1525-0016},
      address      = {New York, NY},
      publisher    = {Nature Publ. Group},
      reportid     = {DKFZ-2023-01214},
      pages        = {2755-2766},
      year         = {2023},
      note         = {2023 Sep 6;31(9):2755-2766},
      abstract     = {USH2A mutations are a common cause of autosomal recessive
                      retinitis pigmentosa (RP) and Usher syndrome, for which
                      there are currently no approved treatments. Gene
                      augmentation is a valuable therapeutic strategy for treating
                      many inherited retinal diseases, however conventional
                      adeno-associated virus (AAV) gene therapy cannot accommodate
                      cDNAs exceeding 4.7kb, such as the 15.6kb-long USH2A coding
                      sequence. In the present study, we adopted an alternative
                      strategy to successfully generate scaffold/matrix attachment
                      region (S/MAR) DNA plasmid vectors containing the
                      full-length human USH2A coding sequence, a GFP reporter gene
                      and a ubiquitous promoter (CMV or CAG), reaching a size of
                      approximately 23kb. We assessed the vectors in transfected
                      HEK-293 cells and USH2A patient-derived dermal fibroblasts,
                      in addition to ush2au507 zebrafish microinjected with the
                      vector at the one-cell stage. pS/MAR-USH2A vectors drove
                      persistent transgene expression in patient fibroblasts with
                      restoration of usherin. Twelve months of GFP expression was
                      detected in the photoreceptor cells, with rescue of Usher 2
                      complex localisation in the photoreceptors of ush2au507
                      zebrafish retina injected with pS/MAR-USH2A. To our
                      knowledge, this is the first reported vector which can be
                      used to express full-length usherin with functional rescue.
                      S/MAR DNA vectors have shown promise as a novel non-viral
                      retinal gene therapy, warranting further translational
                      development.},
      cin          = {F160},
      ddc          = {610},
      cid          = {I:(DE-He78)F160-20160331},
      pnm          = {316 - Infektionen, Entzündung und Krebs (POF4-316)},
      pid          = {G:(DE-HGF)POF4-316},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37337429},
      doi          = {10.1016/j.ymthe.2023.06.012},
      url          = {https://inrepo02.dkfz.de/record/276937},
}