Associated Papers
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
Molecular characterization, clinical phenotype, and neurological outcome of twelve Palestinian children with beta-ketothiolase deficiency: report of two novel variants in the ACAT1 gene.
Dweikat IM et al.
Bmc Medical Genomics, 2025
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.
Grünert SC et al.
Orphanet Journal of Rare Diseases, 2020
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 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
Mutation in an exonic splicing enhancer site causing chronic granulomatous disease.
de Boer M et al.
Blood Cells, Molecules & Diseases, 2017
Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene.
Sasai H et al.
Molecular Genetics & Genomic Medicine, 2017
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
Kılıç-Yıldırım G et al.
The Turkish Journal of Pediatrics, 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
Beta-ketothiolase deficiency. A case report.
Altintaş B et al.
The Turkish Journal of Pediatrics, 0
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