Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration
Tài liệu tham khảo
Brown, 1982, β-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations, Pediatrics, 70, 532
Truscott, 1981, Two new sulphur-containing amino acids in man, Biomed Mass Spectrom, 8, 99, 10.1002/bms.1200080304
Ragan, 1988, Subfractionation of mitochondria and isolation of proteins of oxidative phosphorylation, 79
King, 1967, Preparation of succinate cytochrome c reductase and cytochrome b-c1 particle and reconstruction of Succinate cytochrome c reductase, Methods Enzymol, 10, 446
Wharton, 1967, Cytochrome oxidase from beef heart mitochondria, Methods Enzymol, 10, 245, 10.1016/0076-6879(67)10048-7
Shepherd, 1969, Citrate synthase activity from rat liver, Methods Enzymol, 13, 11, 10.1016/0076-6879(69)13006-2
Heales, 1996, Diagnosis of mitochondrial electron transport chain defects in small muscle biopsies, J Inher Metab Dis, 19, P151
Clayton, 2001, Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion, J Clin Invest, 108, 457, 10.1172/JCI200111294
Rasmussen, 1990, Comparison of the binding affinities of acyl-CoA-binding protein and fatty-acid-binding protein for long-chain acyl-CoA esters, Biochem J, 265, 849, 10.1042/bj2650849
Rougraff, 1988, Purification and characterization of 3-hydroxyisobutyrate dehydrogenase from rabbit liver, J Biol Chem, 263, 327, 10.1016/S0021-9258(19)57396-3
Hawes, 1996, Primary structure and tissue-specific expression of human β-hydroxyisobutyryl-coenzyme A hydrolase, J Biol Chem, 271, 26430, 10.1074/jbc.271.42.26430
Moore, 1958, Automatic recording apparatus for use in the chromatography of amino acids, Fed Proc, 17, 1107