Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency

Biochemical and Biophysical Research Communications

Volumn 412, Issue 4, 2011, Pages 572-577

  Flück, Christa E ^a   Mallet, Delphine ^b   Hofer, Gaby ^a   Samara Boustani, Dinane ^c   Leger, Juliane ^d   Polak, Michel ^c   Morel, Yves ^b   Pandey, Amit V ^a  

^a CH   (Switzerland)

^b HOSPICES CIVILS DE LYON   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Antley Bixler syndrome; Congenital adrenal hyperplasia; CPR; NADPH P450 oxidoreductase; P450 oxidoreductase deficiency; POR; Steroid metabolism; Steroidogenesis

Indexed keywords

17 HYDROXYPREGNENOLONE; ANDROSTENEDIONE; AROMATASE; CYTOCHROME P450 17; CYTOCHROME P450 17A1; CYTOCHROME P450 REDUCTASE; GLUTAMIC ACID; PROGESTERONE; PROLINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; STEROID 17,20 LYASE; STEROID 17ALPHA MONOOXYGENASE; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; AROMATIZATION; ARTICLE; CATALYSIS; CYTOCHROME P450 REDUCTASE DEFICIENCY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE DELETION; GENOTYPE; HUMAN; HUMAN CELL; METABOLIC INHIBITION; MUTANT; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN PROTEIN INTERACTION; PROTEIN STRUCTURE; REDUCTION KINETICS; SEX DIFFERENTIATION DISORDER; STEROID HYDROXYLATION; STEROID METABOLISM; TURKEY (REPUBLIC); WILD TYPE; YEAST;

46, XX DISORDERS OF SEX DEVELOPMENT; AROMATASE; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; NADPH-FERRIHEMOPROTEIN REDUCTASE; PROTEIN CONFORMATION; SEQUENCE DELETION; STEROID 17-ALPHA-HYDROXYLASE; STEROID 21-HYDROXYLASE;

EID: 80052640320     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2011.08.001     Document Type: Article

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