Mutant ELOVL4 that causes autosomal dominant Stargardt-3 macular dystrophy is misrouted to rod outer segment disks

Investigative Ophthalmology and Visual Science

Volumn 55, Issue 6, 2014, Pages 3669-3680

  Agbaga, Martin Paul ^a,b   Tam, Beatrice M ^c   Wong, Jenny S ^c   Yang, Lee Ling ^c   Anderson, Robert E ^a,b   Moritz, Orson L ^c  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF OKLAHOMA HEALTH SCIENCES CENTER   (United States)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Autosomal dominant Stargardt like macular dystrophy (STGD3); Elongation of very long chain fatty acids 4 (ELOVL4); Photoreceptor outer segment; Retinal degeneration

Indexed keywords

GREEN FLUORESCENT PROTEIN; RETINOL DEHYDROGENASE; RHODOPSIN; VERY LONG CHAIN FATTY ACID; WHEAT GERM AGGLUTININ;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CELL DEATH; CELLULAR DISTRIBUTION; CONFOCAL LASER MICROSCOPY; CONTROLLED STUDY; DISEASE COURSE; DOT HYBRIDIZATION; ELONGATION OF VERY LONG CHAIN FATTY ACID 4 GENE; ENZYME ACTIVITY; GENE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MUTANT; NONHUMAN; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA ROD OUTER SEGMENT; STARGARDT DISEASE; VISUAL IMPAIRMENT; WESTERN BLOTTING; XENOPUS LAEVIS;

AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY (STGD3); ELONGATION OF VERY LONG CHAIN FATTY ACIDS-4 (ELOVL4); PHOTORECEPTOR OUTER SEGMENT; RETINAL DEGENERATION;

ANIMALS; DISEASE MODELS, ANIMAL; DNA; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; IMMUNOHISTOCHEMISTRY; MACULAR DEGENERATION; MEMBRANE PROTEINS; MICE; MICE, TRANSGENIC; MICROSCOPY, CONFOCAL; MUTATION; ROD CELL OUTER SEGMENT; XENOPUS LAEVIS;

EID: 84902504255     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-13099     Document Type: Article

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