Fukao T - Search Results

1

Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl.

Fukao T, Watanabe H, Orii K, Takahashi Y, Hirano A, Kondo T, Yamaguchi S, Aoyama T, Kondo N. Fukao T, et al. Pediatr Res. 2001 Feb;49(2):227-31. doi: 10.1203/00006450-200102000-00016. Pediatr Res. 2001. PMID: 11158518

2

Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency.

Takusa Y, Fukao T, Kimura M, Uchiyama A, Abo W, Tsuboi Y, Hirose S, Fujioka H, Kondo N, Yamaguchi S. Takusa Y, et al. Among authors: fukao t. Mol Genet Metab. 2002 Mar;75(3):227-34. doi: 10.1006/mgme.2002.3297. Mol Genet Metab. 2002. PMID: 11914034

3

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.

Zhang GX, Fukao T, Rolland MO, Zabot MT, Renom G, Touma E, Kondo M, Matsuo N, Kondo N. Zhang GX, et al. Among authors: fukao t. Pediatr Res. 2004 Jul;56(1):60-4. doi: 10.1203/01.PDR.0000129657.48122.52. Epub 2004 May 5. Pediatr Res. 2004. PMID: 15128923

4

Immunotitration analysis of cytosolic acetoacetyl-coenzyme A thiolase activity in human fibroblasts.

Fukao T, Song XQ, Yamaguchi S, Hashimoto T, Orii T, Kondo N. Fukao T, et al. Pediatr Res. 1996 Jun;39(6):1055-8. doi: 10.1203/00006450-199606000-00020. Pediatr Res. 1996. PMID: 8725269

5

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.

Fukao T, Song XQ, Mitchell GA, Yamaguchi S, Sukegawa K, Orii T, Kondo N. Fukao T, et al. Pediatr Res. 1997 Oct;42(4):498-502. doi: 10.1203/00006450-199710000-00013. Pediatr Res. 1997. PMID: 9380443

6

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.

Watanabe H, Orii KE, Fukao T, Song XQ, Aoyama T, IJlst L, Ruiter J, Wanders RJ, Kondo N. Watanabe H, et al. Among authors: fukao t. Hum Mutat. 2000;15(5):430-8. doi: 10.1002/(SICI)1098-1004(200005)15:5<430::AID-HUMU4>3.0.CO;2-1. Hum Mutat. 2000. PMID: 10790204

7

[3-ketoacyl-CoA thiolase deficiency].

Fukao T, Yamaguchi S. Fukao T, et al. Nihon Rinsho. 2002 Apr;60 Suppl 4:738-42. Nihon Rinsho. 2002. PMID: 12013987 Review. Japanese. No abstract available.

8

Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis.

Fukao T, Shintaku H, Kusubae R, Zhang GX, Nakamura K, Kondo M, Kondo N. Fukao T, et al. Pediatr Res. 2004 Dec;56(6):858-63. doi: 10.1203/01.PDR.0000145297.90577.67. Epub 2004 Oct 20. Pediatr Res. 2004. PMID: 15496607

9

Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.

Fukao T, Kursula P, Owen EP, Kondo N. Fukao T, et al. Mol Genet Metab. 2007 Nov;92(3):216-21. doi: 10.1016/j.ymgme.2007.07.005. Epub 2007 Aug 13. Mol Genet Metab. 2007. PMID: 17706444

10

Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase.

Orii KE, Fukao T, Song XQ, Mitchell GA, Kondo N. Orii KE, et al. Among authors: fukao t. Tohoku J Exp Med. 2008 Jul;215(3):227-36. doi: 10.1620/tjem.215.227. Tohoku J Exp Med. 2008. PMID: 18648183 Free article.

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