Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism

Volumn 106, Issue 4, 2012, Pages 478-481

  Coulter Mackie, Marion B ^a   Li, Ailin ^a   Lian, Qun ^a   Struys, Eduard ^a,b   Stockler, Sylvia ^a   Waters, Paula J ^a,c  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITÉ DE SHERBROOKE   (Canada)

Author keywords

Antiquitin; Enzyme assay; Metabolic epilepsy; Missense mutation; Pyridoxine

Indexed keywords

COMPLEMENTARY DNA; PYRIDOXINE;

ALPHA AMINOADIPIC SEMIALDEHYDE DEHYDROGENASE 7A1 GENE; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; EPILEPSY; ESCHERICHIA COLI; GENE; GENE ACTIVITY; GENE EXPRESSION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; HUMAN; IN VIVO STUDY; MISSENSE MUTATION; MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN ANALYSIS; RECOMBINANT GENE; SPECTROPHOTOMETRY; STREPTOMYCES CLAVULIGERUS;

ALDEHYDE DEHYDROGENASE; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ENZYME ASSAYS; EPILEPSY; ESCHERICHIA COLI; HUMANS; MUTANT PROTEINS; MUTATION, MISSENSE; TIME FACTORS;

ESCHERICHIA COLI; STREPTOMYCES CLAVULIGERUS;

EID: 84864362351     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.06.008     Document Type: Article

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