Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): Identification of a Km mutant and an analysis of the mutational sites in the structure

Molecular Genetics and Metabolism

Volumn 90, Issue 4, 2007, Pages 370-378

  Sakurai, Satomi ^a   Fukao, Toshiyuki ^a   Haapalainen, Antti M ^b   Zhang, Gaixiu ^a   Yamada, Keitaro ^a   Lilliu, Franco ^c   Yano, Shoji ^d   Robinson, Peter ^e   Gibson, Michael K ^f   Wanders, Ronald J A ^g   Mitchell, Grant A ^h   Wierenga, Rik K ^b   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b UNIVERSITY OF OULU   (Finland)

^c Department of Biomedical Sciences and Biotechnologies ^*  (Italy)

^d UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^e ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^f Children's Hospital   (United States)

^g ACADEMIC MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF MONTREAL   (Canada)

Author keywords

Expression analysis; Ketone body metabolism; Mutation; Temperature sensitivity; Tertiary structure; Thiolase

Indexed keywords

ACETYL COENZYME A ACETYLTRANSFERASE; COENZYME A; COMPLEMENTARY DNA; MUTANT PROTEIN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; CRYSTAL STRUCTURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME KINETICS; ENZYME STRUCTURE; ENZYME SUBSTRATE; FEMALE; GENE MUTATION; GENE STRUCTURE; GENETIC IDENTIFICATION; HUMAN; HUMAN CELL; LOW TEMPERATURE; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STABILITY; STRUCTURE ANALYSIS; TEMPERATURE SENSITIVE MUTANT; TRANSIENT EXPRESSION; WILD TYPE;

ACETYL-COA C-ACETYLTRANSFERASE; ADOLESCENT; CELLS, CULTURED; CHILD; FEMALE; FIBROBLASTS; HUMANS; KINETICS; MALE; MITOCHONDRIAL PROTEINS; MODELS, MOLECULAR; MUTATION; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY; TEMPERATURE;

EID: 33947600102     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.12.002     Document Type: Article

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