Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency

Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons

(2018) Mina Nakama et al.   GENE

The peroxisomal zebrafish SCP2-thiolase (type-1) is a weak transient dimer as revealed by crystal structures and native mass spectrometry

(2018) Tiila-Riikka Kiema et al.   BIOCHEMICAL JOURNAL

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency

(2018) Toshiyuki Fukao et al.   JOURNAL OF HUMAN GENETICS

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

(2017) Stéphanie Paquay et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam

(2017) Khanh Ngoc Nguyen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene

(2017) Ling Su et al.   METABOLIC BRAIN DISEASE

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency

(2017) Sarah Catharina Grünert et al.   MOLECULAR GENETICS AND METABOLISM

A novel mutation (c.121-13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene

(2017) Yuka Aoyama et al.   Molecular Medicine Reports

Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in theACAT1gene

(2017) Hideo Sasai et al.   Molecular Genetics & Genomic Medicine

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site

(2016) Hiroki Otsuka et al.   Molecular Medicine Reports

NMR-based urinalysis for beta-ketothiolase deficiency

(2015) Chun-Yiu Law et al.   CLINICA CHIMICA ACTA

Inborn errors of ketone body utilization

(2015) Tomohiro Hori et al.   PEDIATRICS INTERNATIONAL

Structural characterization of a mitochondrial 3-ketoacyl-CoA (T1)-like thiolase fromMycobacterium smegmatis

(2015) Neelanjana Janardan et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

Ketone body metabolism and its defects

(2014) Toshiyuki Fukao et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Deciphering key features in protein structures with the new ENDscript server

(2014) Xavier Robert et al.   NUCLEIC ACIDS RESEARCH

Phylogenetic relationships and classification of thiolases and thiolase-like proteins of Mycobacterium tuberculosis and Mycobacterium smegmatis

(2014) Padmanabhan Anbazhagan et al.   TUBERCULOSIS

The crystal structure of human mitochondrial 3-ketoacyl-CoA thiolase (T1): insight into the reaction mechanism of its thiolase and thioesterase activities

(2014) Tiila-Riikka Kiema et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

Crystal structures of SCP2-thiolases of Trypanosomatidae, human pathogens causing widespread tropical diseases: the importance for catalysis of the cysteine of the unique HDCF loop

(2013) Rajesh K. Harijan et al.   BIOCHEMICAL JOURNAL

Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India

(2013) Radha Rama Devi Akella et al.   BRAIN & DEVELOPMENT

Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

(2013) Toshiyuki Fukao et al.   MOLECULAR GENETICS AND METABOLISM

A treatable new cause of chorea: Beta-ketothiolase deficiency

(2013) Daniela Buhaş et al.   MOVEMENT DISORDERS

Siblings With Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Not Identified by Newborn Screening

(2011) K. Sarafoglou et al.   PEDIATRICS

Evidence that 2-methylacetoacetate induces oxidative stress in rat brain

(2010) Guilhian Leipnitz et al.   METABOLIC BRAIN DISEASE

A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene

(2010) Toshiyuki Fukao et al.   MOLECULAR GENETICS AND METABOLISM

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

(2010) Toshiyuki Fukao et al.   MOLECULAR GENETICS AND METABOLISM

Different Clinical Presentation in Siblings with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency and Identification of Two Novel Mutations

(2010) Susanne Thümmler et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene

(2008) Toshiyuki Fukao et al.   MOLECULAR GENETICS AND METABOLISM