Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites

Journal of Biological Chemistry

Volumn 289, Issue 27, 2014, Pages 18943-18956

  Li, Songhua ^a   Izumi, Tadahide ^b   Hu, Jane ^c   Jin, Heather H ^d   Siddiqui, Ahmed Abdul A ^e   Jacobson, Samuel G ^f   Bok, Dean ^c   Jin, Minghao ^a  

^a LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF KENTUCKY   (United States)

^c JULES STEIN EYE INSTITUTE   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e TULANE UNIVERSITY   (United States)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TEMPERATURE;

26 S PROTEASOME; ACTIVE SITE; ENZYMATIC FUNCTIONS; LOW TEMPERATURES; PROTEASOMES; PROTEIN LEVEL; REGULATORY SUBUNITS; UBIQUITIN;

PROTEINS;

26 S PROTEASOME; 26 S PROTEASOME NON ATPASE REGULATORY SUBUNIT 13; 4 PHENYLBUTYRIC ACID; GLYCEROL; MEMBRANE PROTEIN; PROTEASOME; PROTEIN RPE65; REGULATOR PROTEIN; RETINOID; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISULFIDE BOND; ENZYME ACTIVITY; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; LOW TEMPERATURE; MISSENSE MUTATION; MOUSE; NONHUMAN; PATHOGENICITY; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN INTERACTION; RETINA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; UBIQUITINATION;

AGGREGATION; LEBER CONGENITAL AMAUROSIS; MEMBRANE; PHOTORECEPTOR; PROTEASOME; PSMD13; RETINAL DEGENERATION; RETINOID; RPE65; UBIQUITINATION;

ANIMALS; CATALYTIC DOMAIN; CELL MEMBRANE; CIS-TRANS-ISOMERASES; DISEASE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GLYCEROL; HEK293 CELLS; HUMANS; MICE; MODELS, MOLECULAR; MUTANT PROTEINS; MUTATION, MISSENSE; PHENYLBUTYRATES; PROTEASOME ENDOPEPTIDASE COMPLEX; PROTEIN FOLDING; PROTEOLYSIS; RETINAL PIGMENT EPITHELIUM; TEMPERATURE; UBIQUITINATION;

EID: 84903828418     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M114.552117     Document Type: Article

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