Characterization of Leber congenital amaurosis-associated NMNAT1 mutants

Journal of Biological Chemistry

Volumn 290, Issue 28, 2015, Pages 17228-17238

  Sasaki, Yo ^a   Margolin, Zachary ^a   Borgo, Benjamin ^a   Havranek, James J ^a   Milbrandt, Jeffrey ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LIFE CYCLE;

BIOSYNTHETIC ENZYMES; ENZYMATIC ACTIVITIES; NUCLEAR LOCALIZATION; PRIMARY MECHANISM; PROTEIN UNFOLDING; RETINAL DEGENERATIONS; SECONDARY STRUCTURES; SYNTHETIC ACTIVITIES;

OPHTHALMOLOGY;

NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE; NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 1; UNCLASSIFIED DRUG; MUTANT PROTEIN; NMNAT1 PROTEIN, HUMAN; RECOMBINANT PROTEIN;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; GENE MUTATION; LEBER CONGENITAL AMAUROSIS; NONHUMAN; OLIGOMERIZATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; PROTEIN UNFOLDING; RETINA DEGENERATION; ANIMAL; CELL CULTURE; CHEMISTRY; ENZYME STABILITY; ENZYMOLOGY; GENETICS; HEK293 CELL LINE; HUMAN; KINETICS; METABOLISM; MOUSE; NERVE CELL; PATHOLOGY; PROTEIN QUATERNARY STRUCTURE; RETINAL DEGENERATION;

ANIMALS; CELLS, CULTURED; ENZYME STABILITY; HEK293 CELLS; HUMANS; KINETICS; LEBER CONGENITAL AMAUROSIS; MICE; MUTANT PROTEINS; NEURONS; NICOTINAMIDE-NUCLEOTIDE ADENYLYLTRANSFERASE; PHENOTYPE; PROTEIN STRUCTURE, QUATERNARY; RECOMBINANT PROTEINS; RETINAL DEGENERATION;

EID: 84940094594     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M115.637850     Document Type: Article

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