Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy

Proceedings of the National Academy of Sciences of the United States of America

Volumn 110, Issue 14, 2013, Pages 5446-5451

  Logan, Sreemathi ^a,b   Agbaga, Martin Paul ^a,b   Chan, Michael D ^a,b   Kabir, Nabila ^a   Mandal, Nawajes A ^a,b   Brush, Richard S ^a,b   Anderson, Robert E ^a,b  

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

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

Author keywords

Condensing enzyme; Photoreceptor degeneration; Stargardt disease

Indexed keywords

ELOVL4 PROTEIN; FATTY ACID; MUTANT PROTEIN; PEPTIDE; POLYUNSATURATED FATTY ACID; PROTEIN; PROTEIN VARIANT; STGD3 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; ENZYME ACTIVITY; FATTY ACID SYNTHESIS; HUMAN; HUMAN CELL; MICROSOME; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; REDUCTION; STARGARDT DISEASE; WILD TYPE;

ADENOVIRIDAE; ANALYSIS OF VARIANCE; ANIMALS; BLOTTING, WESTERN; ENDOPLASMIC RETICULUM; EYE PROTEINS; FATTY ACIDS, UNSATURATED; GENES, DOMINANT; HEK293 CELLS; HELA CELLS; HUMANS; IMMUNOHISTOCHEMISTRY; MACULAR DEGENERATION; MEMBRANE PROTEINS; MICE; MICROSOMES; MUTATION;

EID: 84875831558     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1217251110     Document Type: Article

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