Characterization N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency

Human Mutation

Volumn 12, Issue 4, 1998, Pages 245-254

  Fukao, Toshiyuki ^a   Nakamura, Haruki ^b   Song, Xiang Qian ^a   Nakamura, Kozue ^a   Orii, Kenji E ^a   Kohno, Yoshinori ^c   Kano, Masatsugu ^a   Yamaguchi, Seiji ^d   Hashimoto, Takashi ^e   Orii, Tadao ^f   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b BIOMOL ENG RESEARCH INSTITUTE   (Japan)

^c National Hospital Organization   (Japan)

^d SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

^e SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f CHUBU GAKUIN UNIVERSITY   (Japan)

Author keywords

Ketothiolase deficiency; Heat instability; Missense mutation; Tertiary structural model; Transient expression

Indexed keywords

ACETYL COENZYME A ACETYLTRANSFERASE;

ARTICLE; CATABOLISM; CRYSTAL STRUCTURE; ELECTROPHORETIC MOBILITY; ENZYME ACTIVE SITE; ENZYME DEFICIENCY; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; JAPAN; KETOGENESIS; MISSENSE MUTATION; MULTIGENE FAMILY; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE;

ACETYL-COA C-ACETYLTRANSFERASE; AMINO ACID SEQUENCE; BINDING SITES; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ENZYME STABILITY; HEAT; HUMANS; JAPAN; KETONE BODIES; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIA; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY;

EID: 7344247710     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:4<245::AID-HUMU5>3.0.CO;2-E     Document Type: Article

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