Publications
Original articles
1. Fukao T, Kamijo K, Osumi T, Fujiki Y, Yamaguchi S, Orii T, Hashimoto T: Molecular cloning and nucleotide sequence of the cDNA encoding the entire precursor of rat mitochondrial acetoacetyl-CoA thiolase. J Biochem 106: 197-204, 1989
2. Fukao T, Yamaguchi S, Kano M, Orii T, Fujiki Y, Osumi T, Hashimoto T: Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency. J Clin Invest 86:2086-2092, 1990
3. Fukao T, Yamaguchi S, Nagasawa N, Kano M, Orii T, Fujiki Y, Osumi T, Hashimoto T: Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency. J Inherit Metab Dis 13:757-760, 1990
4. Yamaguchi S, Fukao T, Nagasawa H, Orii T, Sakura N, Schutgens R B H, Sweetman L, Fujiki Y, Kamijo K, Osumi T, Hashimoto T: 3-ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA. Prog Clin Biol Res 321:673-679, 1990
5. Fukao T, Yamaguchi S, Tomatsu S, Orii T, Fraudienst-Egger G, Schrod L, Osumi T, Hashimoto T: Evidence for structural mutation (347Ala to Thr) in a german family with 3-Ketothiolase deficiency. Biochem Biophys Res Commun 179:124-129, 1991
6. Kano M, Fukao T, Yamaguchi S, Orii T, Osumi T, Hashimoto T: Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encding gene. Gene 109:285-290, 1991
7. Yamaguchi S, Shimizu N, Orii T, Fukao T, Suzuki Y, Maeda K, Hashimoto T, Previs S F, Rinaldo P: Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (b-subunit) deficiency. Pediatr Res 30:439-443, 1991
8. Fukao T, Yamaguchi S, Orii T, Schutgens RBH, Osumi T, Hashimoto T: Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-CoA thiolase: A complete analysis of two generations of a family with 3-ketothiolase deficiency. J Clin Invest 89:474-479, 1992
9. Fukao T, Yamaguchi S, Orii T, Osumi T, Hashimoto T: Molecular basis of 3-ketothiolase deficiency: identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping. Biochem Biophys Acta 1139:184-188, 1992
10. Masuno M, Kano M, Fukao T, Yamaguchi S, Osumi T, Hashimoto T, Takahashi E, Hori T, Orii T: Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme A thiolase gene to 11q22:3-q23:1 by fluorescence in situ hybridization. Cytogenet Cell Genet 60:121-122, 1992
11. Kuwahara T, Fukao T, Kano M, Yamaguchi S, Orii T, Hashimoto T: Identification of Taq I polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency. Hum Genet 90:208-210, 1992
12. Yamaguchi S, Fukao T, Kano M, Wakazono A, Orii T, Sakura N, Hashimoto T: Further analysis of mutant protein in fibroblasts from Japanese boy with 3-ketothiolase deficiency. Tohoku J Exp Med 167:143-153, 1992
13. Wajner M, Sanseverino MT, Giugliani R, Sweetman L, Yamaguchi S, Fukao T, Shih VE: Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetyl-coenzyme-A thiolase. Clin Genet 41:202-205, 1992
14. Yamaguchi S, Sakai A, Fukao T, Wakazono A, Kuwahara T, Orii T, Hashimoto T: Biochemical and immunochemical study of seven families with 3-ketothiolase deficiency: diagnosis of heterozygotes using immunochemical determination of the ratio of mitochondrial acetoacetyl-CoA thiolase and 3-ketoacyl-CoA thiolase proteins. Pediatr Res 33:429-432, 1993
15. Fukao T, Yamaguchi S, Scriver C R, Dunbar G, Wakazono A, Kano M, Orii T, and Hashimoto T: Molecular Studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families. Hum Mutat 2:214-220, 1993
16. Fukao T, Yamaguchi S, WakazonoS, Orii T, Hoganson G, Hashimoto T: Identification of a novel exonic mutation at -13 from 5′ splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase. J Clin Invest 93: 1035-1041, 1994
17. Song X-Q, Fukao T, Yamaguchi S, Miyazawa S, Hashimoto T, Orii T: Molecular cloning and nucleotide sequence of complementary DNA for human hepatic cytosolic acetoacetyl-coenzyme A thiolase. Biochem Biophys Res Commun 201:478-485,1994
18. Fukao T, Song X-Q, Yamaguchi S, Orii T, Wanders RJA, Poll-The BT, Hashimoto T: Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency. Hum Mutat 5:94-96, 1995
19. Wakazono A, Fukao T, Yamaguchi S, Hori Y, Orii T, Lambert M, Mitchell GA, Lee GW, Hashimoto T: Molecular and biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. Hum Mutat 5:34-42, 1995
20. Fukao T, Wakazono A, Song X-Q, Yamaguchi S, Zacharias R, Donlan MA,Orii T: Prenatal Diagnosis in a family with mitochondrial acetoacetyl-coenzyme A thiolase deficiency with the use of the polymerase chain reaction followed by the heteroduplex detection method. Prenatal Diagnosis 15:363-367, 1995
21. Sakazaki H, Hirayama K, Murakami S, Yonezawa S, Shintaku H, Sawada Y, Fukao T, Watanabe H, Orii T, Isshiki G: A new Japanese case of succinyl-CoA:3-ketoacid CoA-transferase deficiency. J Inherit Metab Dis18:323-325, 1995
22. Fukao T, Song X-Q, Yamaguchi S, Hashimoto T, Orii T, Kondo N: Immunotitration analysis of cytosolic acetoacetyl-CoA thiolase activity in human fibroblasts. Pediatr Res 39:1055-1058, 1996
23. Fukao T, Song X-Q, Watanabe H, Hirayama K, Sakazaki H, Shintaku H, Imanaka M,Orii T, Kondo N: Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency. Prenatal Diagnosis 16: 471-474, 1996
24. Fukao T, Kodama K, Aoyanagi N, Tsukino R, Uemura S, Song X-Q,Watanabe H, Kuhara T, Orii T, Kondo N: Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes. Clin Genet 50:263-266, 1996
25. Masuno M, Fukao T, Song X-Q,Yamaguchi S,Orii T, Kondo N, Imaizumi K, Kuroki Y: Assignment of the human cytosolic acetoacetyl-coenzyme A thiolase (ACAT2) gene to chromosome 6q25:3-q26. Genomics 36:217-218,1996
26. Kassovska-Bratinoba S, Fukao T, Song X-Q,Duncan AMY, Chen HC, Robert M-F, Perez-Cerda C, Ugarte M, Chartrand P, Vobecky S, Kondo N, Mitchell GA: Succinyl CoA:3-Oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient. Am J Hum Genet 59: 519-528, 1996
27. Fukao T, Song X-Q, Yamaguchi S, Kondo N, Orii T, Matthieu J-M, Bachmann C, Orii T: Identification of three novel frameshift mutations (83delAT, 754indCT, and 435+1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency. Hum Mutat 9:277-279, 1997
28. Fukao T, Song XQ, Mitchell GA, Yamaguchi S, Sukegawa K, Orii T, Kondo N:Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A(CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases. Pediatr Res 42:498-502, 1997:
29. Song XQ, Fukao T, Mitchell GA, Kassovska-Bratinova S, Ugarte M, Wanders RJ, Hirayama K, Shintaku H, Churchill P, Watanabe H, Orii T, Kondo N: Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency Biochem Biophys Acta 1360:151-156, 1997
30. Fukao T, Nakamura H, Song XQ, Nakamura K, Orii KE, Kohno Y, Kano M, Yamaguchi S, Hashimoto T, Orii T, Kondo N: Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. Hum Mutat 12:245-254, 1998
31. Song XQ, Fukao T, Watanabe H, Shintaku H, Hirayama K, Kassovska-Bratinova S,Kondo N, Mitchell GA: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. Hum Mutat 12:83-88, 1998
32. Sewell AC, Herwig J, Wiegratz I, Lehnert W, Niederhoff H, Song XQ, Kondo N, Fukao T: Mitochondrial acetoacetyl-CoA thiolase (beta-keto-thiolase deficiency and pregnancy. J Inherit Metab Dis 21:441-442,1998
33. Watanabe H, Yamaguchi S, Kimura M, Wakazono A, Song XQ, Fukao T, Orii T, Hashimoto T: Practical assay method of cytosolic acetoacetyl-CoA thiolase by rapid release of cytosolic enzymes from cultured lymphocytes using digitonin. Tohoku J Exp Med 184:29-38, 1998
34. Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N: Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. Genomics 68:144-151, 2000
35. Watanabe H, Orii KE, Fukao T, Song XQ, Aoyama T, IJlst L, Ruiter J, Wanders RJ, Kondo N: Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping. Hum Mutat 15:430-438, 2000
36. Yamaguchi S, Iga M, Kimura M, Suzuki Y, Shimozawa N, Fukao T, Kondo N, Tazawa Y, Orii T: Urinary organic acids in peroxisomal disorders: a simple screening method. J Chromatogr B Biomed Sci Appl 758:81-86, 2001
37. Nakamura K, Fukao T, Perez-Cerda C, Luque C, Song XQ, Naiki Y, Kohno Y, Ugarte M, Kondo N: A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene. Mol Genet Metab 72:115-121, 2001
38. Fukao T, Scriver CR, Kondo N: The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. Mol Genet Metab 72:109-114, 2001
39. Fukao T, Watanabe H, Orii K, Takahashi Y, Hirano A, Kondo T, Yamaguchi S, Aoyama T, Kondo N: Myopathic form of very-long chain acyl-CoA dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl. Pediatr Res 49:227-231, 2001
40. Doi T, Abo W, Tateno M, Hayashi K, Hori T, Nakada T, Fukao T, Takahashi Y, Terada N: Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy. Eur J Pediatr 159: 908-911, 2001:
41. Berry GT, Fukao T, Mitchell GA, Mazur A, Ciafre M, Gibson J, Kondo N, Palmieri MJ: Neonatal hypoglycemia in severe succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. J Inherit Metab Dis 24:587-595, 2001
42. Fukao T, Nakamura H, Nakamura K, Perez-Cerda C, Baldellou A, Barrionuevo CR, Castello FG, Kohno Y, Ugarte M, Kondo M: Characterization of 6 mutations in 5 Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficency: effects of amino acid substitutions on tertiary structure. Mol Genet Metab 75:235-243, 2002
43. Takusa Y, Fukao T, Kimura M, Uchiyama A, Doi T, Abo W, Tsuboi Y, Hirose S, Fujioka H, Kishimoto T, Kondo N, Yamaguchi S: Identification and characterization of temperature-sensitive mild mutations in 4 VLCAD deficient patients with non-severe childhood form. Mol Genet Metab 75:227-234, 2002
44. Purevjav E, Kimura M, Takusa Y, Ohura T, Hara N, Fukao T, Yamaguchi S: Molecular study of electron transfer flavoprotein arpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II. Eur J Clin Invest 32:707-712, 2002
45. Fukao T, Matsuo N, Zhang GX, Urasawa R, Kubo T, Kohno Y, Kondo N: Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide. Hum Mutat 21:587-592, 2003
46. Fukao T, Zhang G-X, Sakura N, Kubo T, Yamaga H, Hazama H, Kohno Y, Matsuo N, Kondo M, Yamaguchi S, Shigematsu Y, Kondo N: The mitochondrial acetoacetyl-CoA thiolase deficiency in Japanese patients:urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity. J Inherit Metab Dis, 26:423-431, 2003
47. Zhang G-X, Fukao T, Rolland M-O, Zabot M-T, Renom G, Touma E, Kondo M, Matsuo N, Kondo N: The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with “mild” mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA. Pediatr Res 56:60-64, 2004
48. Longo N, Fukao T, Singh R, Pasquali M, Barrios RG, Kondo N, Gibson KM Succinyl-CoA:3-keto acid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. J Inherit Metab Dis 27:691-692, 2004
49. Fukao T, Shintaku H, Kusubae R, Zhang X-Q, Nakamura K, Kondo M, Kondo N. Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA transferase (SCOT) do not show permanent ketosis. Pediatr Res 56:858-863, 2004
50. Kursula P, Sikkila H, Fukao T, Kondo N, Wierenga RK: High resolution crystal structures of human cytosolic thiolase (CT). A comparison of the active sites of human CT, bacterial thiolase, and bacterial KAS I. J Mol Biol. 347:189-201，2005
51. Mrazova L, Fukao T, Halovd K, Gregova E, Kohut V, Pribyl D, Chrastina P, Kondo N, Pospisilova E. Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency.J Inherit Metab Dis. 28:235-236,2005
52. Fukao T, Sakurai S, Rolland M-O, Zabot M-T, Schulze A, Yamada K, Kondo N: A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-ketoacid CoA transferase (SCOT) deficiency. Mol Genet Metab 89:280-282, 2006
53. Zhang G, Fukao T, Sakurai S, Yamada K, Michael Gibson K, Kondo N:. Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency. Mol Genet Metab. 89:222-226, 2006
54. Yamada K, Fukao T, Zhang G, Sakurai S, Ruiter JPN, Wanders RJA, Kondo N: Single-base substitution at the last nucleotide of exon 6 (c.671G >A), resulting in the skipping of exon 6, and exons 6 and 7 in human Succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene Mol Genet Metab. 90:291-297. 2007
55. Sakurai S, Fukao T, Haapalainen AM, Zhang G Yamada S, Lilliu F, Yano S, Robinson P, Gibson MK, Wanders RJA, Mitchell GA, Wierenga RK, Kondo N: 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. Mol Genet Metab 90:370-378, 2007
56. Haapalainen A, Merilinen G Piril P, Kondo N, Fukao T, Wierenga R: Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase (T2): the importance of potassium and chloride ions for its structure and function. Biochemistry 46(14):4305-21,2007
57. Fukao T, Kursula P, Owen EP, Kondo N. Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene. Mol Genet Metab. 92(3):216-221, 2007
58. Fukao T, Zhang G, Rolland M-O, Zabot M-T, Guffon N, Aoki Y, Kondo N. Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. Mol Get Metab 92(4):375-378, 2007
59. Gobin-Limballe S, Djouadi F, Aubey F, Olpin S, Andresen BS, Yamaguchi S, Mandel H, Wanders R, Fukao T, McAndrew R, Kim JJ and Bastin J. Genetic basis for correction of Very Long Chain AcylCoA Dehydrogenase deficiency by benzafibrate in patient fibroblasts: towards a genotype-based therapy. Am J Hum Genet 81:1133-43.(2007)．
60. Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, Yamaguchi S. Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2. Mol Genet Metab. 94(1):61-67, 2008
61. Fukao T, Boneh A, Aoki Y, Kondo N. 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. Mol Genet Metab. 94(4):417-421, 2008
62. Orii KE, Fukao T, Song X-Q, Mitchell GA, Kondo N: Liver-Specific Silencing of the Human Gene Encoding Succinyl-CoA: 3-Ketoacid CoA Transferase Tohoku J Exp Med 215(3):227-236. 2008
63. Purevsuren J, Fukao, T, Hasegawa Y; Fukuda S, Kobayashi H, Yamaguchi S: Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency.Mol Genet Metab 95(1-2):46-51, 2008
64. Purevsuren J, Kobayashi H, Hasegawa Y, Mushimoto Y, Li H, Fukuda S, Shigematsu Y, Fukao T, Yamaguchi S: A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD. Mol Genet Metab 96:77-79, 2009
65. Macdonald MJ, Longacre MJ, Langberg EC, Tibell A, Kendrick MA, Fukao T, Ostenson CG. Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes. Diabetologia. 52:1087-1091, 2009
66. Purevsuren J, Fukao T, Hasegawa Y, Fukuda S, Kobayashi H, Yamaguchi S. Clinical and molecular investigations of 5 Japanese patients with mitochondrial trifunctional protein deficiency. Mol Genet Metab 98:372-377, 2009
67. Thümmler S, Dupont D, Acquaviva C, Fukao T, de Ricaud D. Different Clinical Presentation in Siblings with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency and Identification of Two Novel Mutations. Tohoku J Exp Med 220:27-31, 2010
68. Fukao T, Zhang G, Matsuo N, Kondo N: CpG islands around exon 1 in Succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene were hypomethylated even in human and mouse hepatic tissues where SCOT gene expression was completely suppressed. Molecular Medicine Reports 3:355-359, 2010
69. Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NTB, Pham ATV, Nguyen KN, Kobayashi H, Hasegawa Y, Bui TH, Niezen-Koning KE, Wanders RJA, de Koning T, Nguyen LT, Yamaguchi S, Kondo N. A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency Mol Genet Metab 100(1):37-41,2010
70. Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, Kondo N: A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene. Mol Genet Metab 100:339-344, 2010
71. Hasan NM, Longacre MJ, Seed-Ahmed M, Kendrick MA, Gu H, Ostenson CG, Fukao T, Macdonald MJ.Lower Succinyl-CoA:3-ketoacid-CoA Transferase (SCOT) and ATP Citrate Lyase In Pancreatic Islets of A Rat Model of Type 2 Diabetes: Knockdown of SCOT Inhibits Insulin Release In Rat Insulinoma Cells. Arch Biochem Biophys. 499(1-2):62-68, 2010
72. Hori T, Fukao T, Kobayashi H, Teramoto T, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N. Carnitine palmitoyltransferase 2 deficiency: The time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation. Tohoku J Exp Med 221:191-195, 2010
73. Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T. 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. J Inherit Metab Dis. 33:636, 2010
74. Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Varic I, Zabot M-T, Kondo N. Clinical and molecular characterization of five patients with Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency Biochimica Biophysica Acta Molecular Basis of Disease in press
Reviews
1. Fukao T, Yamaguchi S, Orii T, Hashimoto T: Molecular basis of beta-ketothiolase deficiency: Mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. Hum Mutat 5:113-120, 1995
2. Gibson KM, Ugarte M, Fukao T, Mitchell GA: Molecular and enzymatic methods for detection of genetic defects in distal pathways of branched-chain amino acid metabolism. Method Enzymol 324:432-453, 2000
3. Fukao T, Lopaschuk GD, Mitchell GA: Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry. Prostaglandins, Leukotrienes and Essential Fatty Acid 70:243-251 （2004）
Chapters
1. Mitchell GA, Fukao T: Chapter102 Inborn errors of ketone body metabolism. (Scriver CR, Beaudet AL, Sly WS, Valle D eds: Metabolic and Molecular Bases of Inherited Disease (8th edition), McGraw-Hill, Inc, NewYork) 2001, vol 2, pp2327-2356
2. Fukao T: Acetoacetyl-CoA thiolase (cytosolic). (Wiley Encyclopedia of Molecular Medicine. John Wiley & Sons, Inc), 2002, pp5-6
3. Fukao T: Acetoacetyl-CoA thiolase (Mitochondrial). (Wiley Encyclopedia of Molecular Medicine. John Wiley & Sons, Inc), 2002, pp6-9
4. Fukao T: Thiolases (Acetyl-CoA acyltransferase).(Wiley Encyclopedia of Molecular Medicine. John Wiley & Sons, Inc), 2002, pp3125-3129