Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria

Journal of Inherited Metabolic Disease

Volumn 35, Issue 1, 2012, Pages 133-140

  Engel, Katharina ^a   Vuissoz, Jean Marc ^b,c   Eggimann, Sandra ^c   Groux, Murielle ^c   Berning, Christoph ^a   Hu, Liyan ^f,g   Klaus, Vera ^a   Moeslinger, Dorothea ^d   Mercimek Mahmutoglu, Saadet ^e   Stöckler, Sylvia ^e   Wermuth, Bendicht ^c   Häberle, Johannes ^a,f,g   Nuoffer, Jean Marc ^c  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b Hopital Cantonal de Fribourg   (Switzerland)

^c UNIVERSITY OF BERN   (Switzerland)

^d MEDICAL UNIVERSITY OF VIENNA   (Austria)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^f Division of Metabolism   (Switzerland)

^g Children's Research Center   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININOSUCCINATE LYASE; ARGININOSUCCINIC ACID;

ARGININOSUCCINIC ACIDURIA; ARTICLE; BACTERIAL EXPRESSION SYSTEM; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME ANALYSIS; ESCHERICHIA COLI; GENE EXPRESSION SYSTEM; GENE MUTATION; GENETIC CORRELATION; GENETIC HETEROGENEITY; HUMAN; IN VITRO STUDY; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPIC VARIATION; PROTEIN DEPLETION; WILD TYPE;

ARGININOSUCCINATE LYASE; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ERYTHROCYTES; ESCHERICHIA COLI; FIBROBLASTS; HOMOZYGOTE; HUMANS; KINETICS; MODELS, MOLECULAR; MOLECULAR CONFORMATION; MUTATION; PHENOTYPE; RECOMBINANT PROTEINS;

EID: 84863319209     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9357-x     Document Type: Article

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