Manuscript title: gene augmentation of lca5-leber congenital amaurosis ameliorates bulge region defects of the 2

HIGHLIGHTS

  • who: Faber and Siebren from the Medical Center, Nijmegen, the Netherlands Department Molecular and Cellular Biology, University Geneva, Geneva, Switzerland have published the paper: Manuscript title: Gene augmentation of LCA5-Leber congenital amaurosis ameliorates bulge region defects of the 2, in the Journal: (JOURNAL)
  • what: The authors show that LCA5-encoded lebercilin together with retinitis pigmentosa 1 protein (RP1) and the intraflagellar transport (IFT) proteins IFT81 and IFT88 localize at the bulge region the photoreceptor outer segment (OS) a region crucial for OS membrane disc formation. Next the authors demonstrate that mutant mice deficient for . . .

     

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