Associated Papers
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 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
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
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
Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons.
Nakama M et al.
Gene, 2018
A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature.
Vakili R et al.
Iranian Journal of Child Neurology, 2018
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
Inborn errors of ketone body utilization.
Hori T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
GREMET: an integrative tool for the prediction of mutation effects on gene regulation.
Athanasiadis P et al.
Computer Methods and Programs in Biomedicine, 2013
Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry.
Fukao T et al.
Jimd Reports, 2012
A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.
Fukao T et al.
Molecular Genetics and Metabolism, 2010
Beta-ketothiolase deficiency. A case report.
Altintaş B et al.
The Turkish Journal of Pediatrics, 0