Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria

Molecular Genetics and Metabolism

Volumn 98, Issue 4, 2009, Pages 338-343

  Froese, D S ^a,b   Zhang, J ^a,b   Healy, S ^a,b   Gravel, R A ^a,b  

^a UNIVERSITY OF CALGARY   (Canada)

^b ALBERTA CHILDREN S HOSPITAL RESEARCH INSTITUTE   (Canada)

Author keywords

cblC; Cyanocobalamin; Decyanase; Intrinsic fluorescence spectroscopy

Indexed keywords

BENZIMIDAZOLE DERIVATIVE; COBALAMIN; CYANOCOBALAMIN; HISTIDINE; CARRIER PROTEIN; HYBRID PROTEIN; HYDROXOCOBALAMIN; METHYLMALONIC ACID; MMACHC PROTEIN, HUMAN; MUTANT PROTEIN;

ARTICLE; BINDING AFFINITY; BINDING SITE; CONTROLLED STUDY; GENE MUTATION; HOMOCYSTINURIA; METHYLMALONIC ACIDURIA; MOLECULAR MECHANICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; WILD TYPE; AMINO ACID SUBSTITUTION; GENETICS; HUMAN; INBORN ERROR OF METABOLISM; ISOLATION AND PURIFICATION; KINETICS; METABOLISM; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN BINDING; ULTRAVIOLET SPECTROPHOTOMETRY;

AMINO ACID SUBSTITUTION; CARRIER PROTEINS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HOMOCYSTINURIA; HUMANS; HYDROXOCOBALAMIN; KINETICS; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MUTANT PROTEINS; PROTEIN BINDING; RECOMBINANT FUSION PROTEINS; SPECTROPHOTOMETRY, ULTRAVIOLET; VITAMIN B 12;

EID: 70350622960     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.07.014     Document Type: Article

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