Succinyl-CoA:3-ketoacid CoA transferase (SCOT; EC 2.8.3.5; locus symbol OXCT ) is the key enzyme of ketone body utilization. Hereditary SCOT deficiency (MIM 245050) causes episodes of severe ketoacidosis. We developed a transient expression system for mutant SCOT cDNAs, using immortalized SCOT-...
Succinyl-CoA: 3-Ketoacid-CoA transferase (CoA transferase) deficiency, a new cause of keto-acidosis in infancyIn an infant with a unique form of persistent ketonemia and severe intermittent keto-acidosis, studies of post mortem brain, muscle and kidney tissue demonstrated the absence of CoA ...
Shafqat N, Kavanagh KL, Sass JO et al (2013) A structural mapping of mutations causing succinyl-CoA: 3-ketoacid CoA transferase (SCOT) deficiency. J Inherit Metab Dis 36(6):983-987Shafqat N, Kavanagh KL, Sass JO, et al. A structural mapping of mutations causing succinyl-CoA:3-...
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency causes episodic ketoacidotic crises and no apparent symptoms between them. Here, we report a Japanese case of neonatal-onset SCOT deficiency. The male patient presented a severe ketoacidotic crisis, with blood pH of 7.072 and bicarbonate of...
Patients Homozygous for the T435N Mutation of Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Do Not Show Permanent Ketosis TOSHIYUKI FUKAO, HARUO SHINTAKU, RYOU KUSUBAE, GAI X. ZHANG, KOZUE NAKAMURA, MASASHI KONDO, AND NAOMI KONDO Department of Pediatrics [T.F., G.X.Z., K.N., M.K....
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare disorder of ketone body catabolism. In the present study, we prenatally diagnosed SCOT deficiency in a fetus in a family of which the proband was the first patient with SCOT deficiency identified in Japan, by analysis of enzym...
The preparation of S. Succinyl CoA Primary structure of the succinyl-CoA synthetase of Escherichia coli. Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues Mechanism and specificity of succinyl-CoA:3-ketoacid coenzyme A transferase. ...
Single-base substitution at the last nucleotide of exon 6 (c.671GA), resulting in the skipping of exon 6, and exons 6 and 7 in human Succinyl-CoA 3-ketoacid CoA transferase (SCOT) gene 文档格式: .pdf 文档大小: 318.84K 文档页数: ...
Metallothionein prevents diabetes-induced cardiac pathological changes, likely via the inhibition of succinyl-CoA:3-ketoacid coenzyme A transferase-1 nitra... We previously demonstrated that metallothionein (MT)-mediated protection from diabetes-induced pathological changes in cardiac tissues is related to ...
Encoded by the dlst gene, DLST catalyzes an important reaction sequence in α-ketoacid oxidation. It contains covalently bound lipoyl moieties and catalyzes the transfer of succinyl moiety to CoA substrate to form succinyl-CoA (Reed and Hackert 1990). Mice deficient in DLST have been developed. ...