The G46S-hPAH mutant protein: A model to study the rescue of aggregation-prone PKU mutations by chaperones

Molecular Genetics and Metabolism

Volumn 104, Issue SUPPL., 2011, Pages

  Leandro, João ^a,b   Saraste, Jaakko ^a   Leandro, Paula ^b   Flatmark, Torgeir ^a  

^a UNIVERSITY OF BERGEN   (Norway)

^b RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

Author keywords

Chemical pharmacological chaperones; Conformational disease; Human phenylalanine hydroxylase; Phenylketonuria

Indexed keywords

(5,6 DIMETHYL 3 )4 METHYL 2 PYRI DINYL) 2 THIOXO 2,3 DIHYDROTHIENOL[2,3 D]PYRIIMIDIN 4 (1H) ONE; 3 AMINO 2 BENZYL 7 NITRO 4 (2 QUINOLYL) 1,2 DIHYDROISOQUINOLIN 1 ONE); AROMATIC AMINO ACID; ASPARTATE KINASE; CHAPERONE; CHORISMATE MUTASE; EPIGALLOCATECHIN GALLATE; GLYCEROL; ISOQUINOLINE DERIVATIVE; MALTOSE BINDING PROTEIN; MUTANT PROTEIN; OLIGOMER; PHENYLALANINE 4 MONOOXYGENASE; PYRIMIDINE DERIVATIVE; SAPROPTERIN; TETRAMER; TRIMETHYLAMINE OXIDE; UNCLASSIFIED DRUG;

ALPHA HELIX; ENZYME ACTIVITY; ESCHERICHIA COLI; FIBER; GENE MUTATION; HUMAN; HYPERPHENYLALANINEMIA; NONHUMAN; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN EXPRESSION; REVIEW;

HUMANS; MODELS, BIOLOGICAL; MOLECULAR CHAPERONES; MUTANT PROTEINS; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 82755189535     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.07.024     Document Type: Review

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