Associated Papers
Analysis of the clinical phenotype and genotype features of 5 cases of beta-ketothiolase deficiency.
Jin JL et al.
Bmc Pediatrics, 2026
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
41141493 (PubMed )
Supplement: mmc1.pdf
Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1.
Xiao Y et al.
The Tohoku Journal of Experimental Medicine, 2025
Engineering potassium activation into biosynthetic thiolase.
Marshall AC et al.
The Biochemical Journal, 2021
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Abdelkreem E et al.
Human Mutation, 2019
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.
Fukao T et al.
Journal of Human Genetics, 2019
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.
Abdelkreem E et al.
Jimd Reports, 2017
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.
Sakurai S et al.
Molecular Genetics and Metabolism, 2007
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