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10.1038/mt.2015.220

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suck abstract from ncbi


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pmid26666451
      Mol+Ther 2016 ; 24 (3 ): 556-63
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  • In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa #MMPMID26666451
  • Bakondi B ; Lv W ; Lu B ; Jones MK ; Tsai Y ; Kim KJ ; Levy R ; Akhtar AA ; Breunig JJ ; Svendsen CN ; Wang S
  • Mol Ther 2016[Mar]; 24 (3 ): 556-63 PMID26666451 show ga
  • Reliable genome editing via Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR)/Cas9 may provide a means to correct inherited diseases in patients. As proof of principle, we show that CRISPR/Cas9 can be used in vivo to selectively ablate the rhodopsin gene carrying the dominant S334ter mutation (Rho(S334)) in rats that model severe autosomal dominant retinitis pigmentosa. A single subretinal injection of guide RNA/Cas9 plasmid in combination with electroporation generated allele-specific disruption of Rho(S334), which prevented retinal degeneration and improved visual function.
  • |*CRISPR-Cas Systems [MESH]
  • |*Gene Editing [MESH]
  • |Alleles [MESH]
  • |Animals [MESH]
  • |Binding Sites [MESH]
  • |Gene Order [MESH]
  • |Genetic Therapy [MESH]
  • |Genetic Vectors/genetics [MESH]
  • |Humans [MESH]
  • |Mutation [MESH]
  • |Phenotype [MESH]
  • |Photoreceptor Cells, Vertebrate/metabolism [MESH]
  • |RNA, Guide, CRISPR-Cas Systems [MESH]
  • |Rats [MESH]
  • |Retinal Dystrophies/genetics/pathology/therapy [MESH]
  • |Retinitis Pigmentosa/*genetics/*pathology/therapy [MESH]
  • |Synapses/metabolism [MESH]


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