Functional and Structural Basis of Carnitine Palmitoyltransferase 1A Deficiency

Journal of Biological Chemistry

Volumn 278, Issue 50, 2003, Pages 50428-50434

  Gobin, Stéphanie ^a,b   Thuillier, Laure ^a,b   Jogl, Gerwald ^c   Faye, Audrey ^a   Tong, Liang ^c   Chi, Mihaiti ^b   Bonnefont, Jean Paul ^b   Girard, Jean ^a   Prip Buus, Carina ^a  

^a INSTITUT COCHIN   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATALYSIS; DRUG PRODUCTS; FATTY ACIDS; LIPIDS; OXIDATION;

MUTATIONS;

ENZYMES;

CARNITINE ACETYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE; LONG CHAIN FATTY ACID; OUTER MEMBRANE PROTEIN;

ANIMAL CELL; ARTICLE; CRYSTAL STRUCTURE; ENZYME ACTIVE SITE; ENZYME DEFICIENCY; ENZYME SPECIFICITY; ENZYME STRUCTURE; ENZYME SUBSTRATE; FATTY ACID OXIDATION; HYDROPHOBICITY; HYPOGLYCEMIA; MISSENSE MUTATION; MITOCHONDRIAL MEMBRANE; NONHUMAN; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE; STRUCTURE ACTIVITY RELATION; TISSUE DISTRIBUTION;

AMINO ACID SEQUENCE; BINDING SITES; BLOTTING, WESTERN; CARNITINE O-PALMITOYLTRANSFERASE; CATALYTIC DOMAIN; CRYSTALLOGRAPHY, X-RAY; DOSE-RESPONSE RELATIONSHIP, DRUG; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FIBROBLASTS; HUMANS; INHIBITORY CONCENTRATION 50; KINETICS; LIPID METABOLISM; MITOCHONDRIA; MODELS, GENETIC; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEIN ISOFORMS; PROTEIN STRUCTURE, SECONDARY; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY, AMINO ACID; SUBCELLULAR FRACTIONS; TRYPSIN;

ANIMALIA; SACCHAROMYCES; SACCHAROMYCES CEREVISIAE;

EID: 0346749506     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M310130200     Document Type: Article

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