Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)

Human Mutation

Volumn 12, Issue 5, 1998, Pages 344-354

  Waters, Paula J ^a   Parniak, Michael A ^b   Hewson, A Stacy ^a   Scriver, Charles R ^a,c  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

Aggregat ion; Degradation; Hyperphenylalaninemia; In vitro expression; Missense mutations; Phenylalanine hydroxylase; Phenylketonuria; Proteasome; Proteolysis; Turnover

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; COGNITIVE DEFECT; GENOTYPE; HEMIZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERPHENYLALANINEMIA; MISSENSE MUTATION; PHENOTYPE; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN EXPRESSION;

CELL LINE; CLONING, MOLECULAR; ESCHERICHIA COLI; GENOTYPE; HUMANS; MUTATION, MISSENSE; PHENOTYPE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROTEIN BIOSYNTHESIS; RECOMBINANT FUSION PROTEINS; TRANSCRIPTION, GENETIC;

EID: 0031720261     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:5<344::AID-HUMU8>3.0.CO;2-D     Document Type: Article

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