Eva Thimm

Summary

Affiliation: The University of Tokyo
Country: Japan

Publications

  1. doi request reprint A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, 1 1 Yanagido, Gifu, Gifu 501 1194, Japan
    J Inherit Metab Dis 33:S307-13. 2010
  2. doi request reprint 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
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1 1, Gifu 501 1194, Japan
    Mol Genet Metab 110:184-7. 2013
  3. pmc 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
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, 1 1 Yanagido, Gifu, 501 1194, Japan
    JIMD Rep 3:107-15. 2012
  4. ncbi request reprint Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Gifu 501 1194, Japan
    Mol Genet Metab 92:216-21. 2007
  5. ncbi request reprint Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1 1, Gifu 501 1194, Japan
    Mol Genet Metab 92:375-8. 2007
  6. doi request reprint A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501 1194, Japan
    Mol Genet Metab 100:339-44. 2010
  7. doi request reprint Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Gifu 501 1194, Japan
    Biochim Biophys Acta 1812:619-24. 2011
  8. doi request reprint CpG islands around exon 1 in the succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene are hypomethylated even in human and mouse hepatic tissues where SCOT gene expression is completely suppressed
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501 1194, Japan
    Mol Med Report 3:355-9. 2010
  9. doi request reprint Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501 1194, Japan
    Mol Med Report 2:69-72. 2009

Collaborators

  • Seiji Yamaguchi
  • Ivo Baric
  • Tomohiro Ishii
  • Isao Yuasa
  • Jorn Oliver Sass
  • Toshiyuki Fukao
  • Naomi Kondo
  • Petri Kursula
  • Keiko Murase
  • Masaki Takayanagi
  • Marie Therese Zabot
  • Nathalie Guffon
  • Gaixiu Zhang
  • Tomohiro Hori
  • Yuka Aoyama
  • Avihu Boneh
  • Rikkert K Wierenga
  • Rajesh K Harijan
  • Rik K Wierenga
  • Yuki Hasegawa
  • Mari Imamura
  • Naomi Kuwada
  • Shinsuke Maruyama
  • Antti M Haapalainen
  • Toshihiro Ohura
  • Mitsuo Toyoshima
  • Can Ficicioglu
  • Kamel Monastiri
  • Udo Wendel
  • Tomonobu Hasegawa
  • Toju Tanaka
  • Naoki Matsuo
  • Reiko Horikawa
  • Yasuhiro Naiki
  • Naoko Amano
  • Naomi Sakaguchi
  • Kenji E Orii
  • Takahiro Yamamoto
  • Masashi Kondo
  • Elizabeth Patricia Owen
  • Yusuke Aoki
  • Marie Odile Rolland

Detail Information

Publications9

  1. doi request reprint A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, 1 1 Yanagido, Gifu, Gifu 501 1194, Japan
    J Inherit Metab Dis 33:S307-13. 2010
    ..Significant residual activity from the T435N mutant allele may prevent the patient from developing permanent ketonuria...
  2. doi request reprint 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
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1 1, Gifu 501 1194, Japan
    Mol Genet Metab 110:184-7. 2013
    ..Using this method, we identified a heterozygous deletion including exons 3-4 in a third patient, likely due to Alu-mediated non-equal homologous recombination between Alu sequences. ..
  3. pmc 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
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, 1 1 Yanagido, Gifu, 501 1194, Japan
    JIMD Rep 3:107-15. 2012
    ..T2-deficient patients with "mild" mutations have severe ketoacidotic crises but their chemical phenotypes may be subtle even during acute crises...
  4. ncbi request reprint Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Gifu 501 1194, Japan
    Mol Genet Metab 92:216-21. 2007
    ..Hence we finally concluded that the R268H mutation is a disease-causing one. The stability of mutant protein in transient expression analysis does not always reflect the condition in patients' fibroblasts...
  5. ncbi request reprint Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1 1, Gifu 501 1194, Japan
    Mol Genet Metab 92:375-8. 2007
    ..Alu element-mediated unequal homologous recombination between an Alu-Jo in intron 7 and another Alu-Jo in intron 9 appears to be responsible for this duplication...
  6. doi request reprint A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501 1194, Japan
    Mol Genet Metab 100:339-44. 2010
    ..These results confirmed that c.951C>T diminished the effect of the exonic splicing enhancer and caused exon 10 skipping...
  7. doi request reprint Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Gifu 501 1194, Japan
    Biochim Biophys Acta 1812:619-24. 2011
    ..Permanent ketosis or ketonuria is considered a pathognomonic feature of SCOT deficiency. However, this condition depends not only on residual activity but also on environmental factors...
  8. doi request reprint CpG islands around exon 1 in the succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene are hypomethylated even in human and mouse hepatic tissues where SCOT gene expression is completely suppressed
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501 1194, Japan
    Mol Med Report 3:355-9. 2010
    ..CpG islands around the promoter region of the SCOT gene were hypomethylated in the DNA from both human HepG2 cells and mouse liver. Hence, methylation status does not contribute to hepatocyte-specific SCOT gene silencing...
  9. doi request reprint Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501 1194, Japan
    Mol Med Report 2:69-72. 2009
    ..Follow-up of this family over time is necessary to understand the relationship between the heteroplasmic mutation loads in the 4 different samples and the clinical manifestations of MIDD/MELAS...