Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

Human Molecular Genetics

Volumn 24, Issue 4, 2015, Pages 972-986

  Schwarz, Nele ^a   Carr, Amanda Jayne ^a   Lane, Amelia ^a   Moeller, Fabian ^b   Chen, Li Li ^a   Aguilà, Mònica ^a   Nommiste, Britta ^a   Muthiah, Manickam N ^a,c   Kanuga, Naheed ^a   Wolfrum, Uwe ^b   Nagel wolfrum, Kerstin ^b   Da cruz, Lyndon ^a,c   Coffey, Peter J ^a   Cheetham, Michael E ^a   Hardcastle, Alison J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ATALUREN; GREEN FLUORESCENT PROTEIN; EYE PROTEIN; MEMBRANE PROTEIN; OXADIAZOLE DERIVATIVE; RP2 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADULT; ARTICLE; CASE REPORT; CELL DIFFERENTIATION; CONTROLLED STUDY; FIBROBLAST; GENE; GOLGI COMPLEX; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; NONSENSE MUTATION; PHENOTYPE; PIGMENT EPITHELIUM; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RP2 GENE; CYTOLOGY; DRUG EFFECTS; EPITHELIUM CELL; EUKARYOTIC FLAGELLUM; GENE EXPRESSION; GENETICS; METABOLISM; MUTATION; NUCLEAR REPROGRAMMING; PATHOLOGY; PROTEIN SYNTHESIS; PROTEIN TRANSPORT; YOUNG ADULT;

CELL DIFFERENTIATION; CELLULAR REPROGRAMMING; CILIA; EPITHELIAL CELLS; EYE PROTEINS; FIBROBLASTS; GENE EXPRESSION; HUMANS; INDUCED PLURIPOTENT STEM CELLS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; OXADIAZOLES; PHENOTYPE; PROTEIN BIOSYNTHESIS; PROTEIN TRANSPORT; RETINAL PIGMENT EPITHELIUM; YOUNG ADULT;

EID: 84922471648     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu509     Document Type: Article

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