Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both α- and β-subunits

American Journal of Human Genetics

Volumn 58, Issue 5, 1996, Pages 979-988

  Ushikubo, Seiichi ^b   Aoyama, Toshifumi ^a   Kamijo, Takehiko ^b   Wanders, Ronald J A ^b   Rinaldo, Piero ^b   Vockley, Jerry ^b   Hashimoto, Takashi ^b  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACYLTRANSFERASE; COMPLEMENTARY DNA; ENOYL COENZYME A HYDRATASE; NUCLEOTIDE; RNA;

ALLELE; ALPHA CHAIN; ARTICLE; BETA CHAIN; CATALYSIS; CONTROLLED STUDY; ENZYME ACTIVITY; GEL FILTRATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MITOCHONDRION; MUTATION; NUCLEOTIDE SEQUENCE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

ALLELES; CELLS, CULTURED; DNA, COMPLEMENTARY; FIBROBLASTS; HETEROZYGOTE; HUMANS; INFANT; MALE; MULTIENZYME COMPLEXES; POINT MUTATION;

EID: 0029976189     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Aoyama T, Nagata K, Yamazoe Y, Kato R, Matsunaga E, Gelboin HV, Gonzalez FJ (1990) Cytochrome b5 potentiation of cytochrome P450 catalytic activity demonstrated by a vaccinia virus-mediated in situ reconstitution system. Proc Nad Acad Sci USA 87:5425-5429
2. Aoyama T, Nakajima-Nasu T, Souri M, Hashimoto T (1995a) A quantitative method for cDNA-directed expression in cultured mammalian cells. Anal Biochem 227:85-89
3. Aoyama T, Souri M, Kamijo T, Ushikubo S, Hashimoto T (1994a) Peroxisomal acyl-coenzyme A oxidase is a rate-limiting enzyme in a very-long-chain fatty acid β-oxidation system. Biochem Biophys Res Commun 201:1541-1547
4. Aoyama T, Souri M, Ueno I, Kamijo T, Yamaguchi S, Rhead WJ, Tanaka K, et al (1995b) Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Am J Hum Genet 57:273-283
5. Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI, Rhead WJ, et al (1995c) Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest 95:2465-2473