PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme

Human Mutation

Volumn 7, Issue 3, 1996, Pages 228-238

  Eiken, Hans Geir ^a   Knappskog, Per M ^a   Apold, Jaran ^a   Flatmark, Torgeir ^a  

^a UNIVERSITY OF BERGEN   (Norway)

Author keywords

Expression; G46S mutation; Phenylalanine hydroxylase; Phenylketonuria; Protein aggregation; Protein instability

Indexed keywords

COMPLEMENTARY DNA; HYBRID PROTEIN; MESSENGER RNA; PHENYLALANINE 4 MONOOXYGENASE; RECOMBINANT PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; DNA SEQUENCE; EMBRYO; ENZYME ACTIVITY; ENZYME DEFICIENCY; ESCHERICHIA COLI; GENE MUTATION; HUMAN; HUMAN CELL; KIDNEY CELL; MAJOR CLINICAL STUDY; PHENOTYPE; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN DEGRADATION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; BASE SEQUENCE; CELL LINE; FACTOR XA; FEMALE; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN CONFORMATION; RECOMBINANT FUSION PROTEINS; SCANDINAVIA; SCATTERING, RADIATION;

ESCHERICHIA COLI;

EID: 0030008190     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:3<228::AID-HUMU7>3.0.CO;2-6     Document Type: Article

References (15)

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