Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsensemediated zebrafish model

Human Molecular Genetics

Volumn 25, Issue 16, 2016, Pages 3416-3431

  Moosajee, Mariya ^a,b,c   Tracey White, Dhani ^a   Smart, Matthew ^a   Weetall, Marla ^d   Torriano, Simona ^e   Kalatzis, Vasiliki ^e   da Cruz, Lyndon ^a,b   Coffey, Peter ^a   Webster, Andrew R ^a,b   Welch, Ellen ^d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d PTC Therapeutic Inc   (United States)

^e Montpellier University Medical Center   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AGENTS AFFECTING PROTEIN METABOLISM; ATALUREN; PROTEIN; PTC 414; RAB ESCORT PROTEIN 1; UNCLASSIFIED DRUG; CHM PROTEIN, HUMAN; OXADIAZOLE DERIVATIVE; REP1 PROTEIN, ZEBRAFISH; SIGNAL TRANSDUCING ADAPTOR PROTEIN; STOP CODON;

ADULT; ANIMAL CELL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; CHOROIDEREMIA; CONTROLLED STUDY; DRUG EFFICACY; DRUG SAFETY; EMBRYO; FEMALE; FIBROBLAST; FIBROBLAST CULTURE; FISH MODEL; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; MALE; NEPHROTOXICITY; NONHUMAN; NONSENSE MUTATION; OTOTOXICITY; OXIDATIVE STRESS; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN FUNCTION; PROTEIN PRENYLATION; RETINA DEGENERATION; SURVIVAL; ZEBRA FISH; ANIMAL; DISEASE MODEL; DRUG EFFECTS; GENETICS; PATHOLOGY; RETINA; RETINAL DEGENERATION; STOP CODON;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; APOPTOSIS; CHOROIDEREMIA; CODON, NONSENSE; DISEASE MODELS, ANIMAL; FIBROBLASTS; HUMANS; OXADIAZOLES; OXIDATIVE STRESS; RETINA; RETINAL DEGENERATION; ZEBRAFISH;

EID: 85014341120     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw184     Document Type: Article

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