Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD): K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein

FEBS Journal

Volumn 272, Issue 17, 2005, Pages 4549-4557

  O'Reilly, Linda P ^a,d   Andresen, Brage S ^b,c   Engel, Paul C ^a  

^a UNIVERSITY COLLEGE DUBLIN   (Ireland)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c AARHUS UNIVERSITY   (Denmark)

^d UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

Active site; Enzyme deficiency; Medium chain acyl CoA dehydrogenase (MCAD); Point mutations; Protein folding

Indexed keywords

CHAPERONE; CHAPERONIN; ENZYME VARIANT; FLAVINE ADENINE NUCLEOTIDE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; MUTANT PROTEIN;

ARTICLE; ENZYME ACTIVE SITE; ENZYME DEFICIENCY; ENZYME KINETICS; ESCHERICHIA COLI; GENE MUTATION; GENE OVEREXPRESSION; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN PURIFICATION; THERMOSTABILITY; WESTERN BLOTTING; WILD TYPE;

ACYL-COA DEHYDROGENASE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CATALYTIC DOMAIN; CHAPERONINS; DNA; ENZYME STABILITY; ESCHERICHIA COLI; FLAVIN-ADENINE DINUCLEOTIDE; HUMANS; KINETICS; MODELS, MOLECULAR; PHENOTYPE; POINT MUTATION; PROTEIN FOLDING; RECOMBINANT PROTEINS; SPECTROPHOTOMETRY;

ESCHERICHIA COLI;

EID: 24644462340     PISSN: 1742464X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1742-4658.2005.04878.x     Document Type: Article

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