Associated Papers
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1.
Xiao Y et al.
The Tohoku Journal of Experimental Medicine, 2025
Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation.
Vasco A et al.
International Journal of Neonatal Screening, 2025
Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.
Kahraman AB et al.
Turkish Archives of Pediatrics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature.
Zhen XM et al.
Clinical Diabetes and Endocrinology, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report.
Guo J et al.
World Journal of Clinical Cases, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.
Narang A et al.
Human Mutation, 2020
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Abdelkreem E et al.
Human Mutation, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.
Fukao T et al.
Journal of Human Genetics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Grünert SC et al.
Molecular Genetics and Metabolism, 2017
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.
Abdelkreem E et al.
Jimd Reports, 2017
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
Otsuka H et al.
Molecular Medicine Reports, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.
Wakazono A et al.
Human Mutation, 1995
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.
Fukao T et al.
Human Mutation, 1995