Fukao T - Search Results

1

Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

Gobin-Limballe S, Djouadi F, Aubey F, Olpin S, Andresen BS, Yamaguchi S, Mandel H, Fukao T, Ruiter JP, Wanders RJ, McAndrew R, Kim JJ, Bastin J. Gobin-Limballe S, et al. Among authors: fukao t. Am J Hum Genet. 2007 Dec;81(6):1133-43. doi: 10.1086/522375. Epub 2007 Oct 29. Am J Hum Genet. 2007. PMID: 17999356 Free PMC article.

2

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

Djouadi F, Habarou F, Le Bachelier C, Ferdinandusse S, Schlemmer D, Benoist JF, Boutron A, Andresen BS, Visser G, de Lonlay P, Olpin S, Fukao T, Yamaguchi S, Strauss AW, Wanders RJ, Bastin J. Djouadi F, et al. Among authors: fukao t. J Inherit Metab Dis. 2016 Jan;39(1):47-58. doi: 10.1007/s10545-015-9871-3. Epub 2015 Jun 25. J Inherit Metab Dis. 2016. PMID: 26109258 Free article.

3

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

4

Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.

Fukao T, Yamaguchi S, Orii T, Hashimoto T. Fukao T, et al. Hum Mutat. 1995;5(2):113-20. doi: 10.1002/humu.1380050203. Hum Mutat. 1995. PMID: 7749408 Review.

5

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

6

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.

Purevsuren J, Kobayashi H, Hasegawa Y, Mushimoto Y, Li H, Fukuda S, Shigematsu Y, Fukao T, Yamaguchi S. Purevsuren J, et al. Among authors: fukao t. Mol Genet Metab. 2009 Feb;96(2):77-9. doi: 10.1016/j.ymgme.2008.10.012. Epub 2008 Dec 6. Mol Genet Metab. 2009. PMID: 19064330

7

Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency.

Purevsuren J, Hasegawa Y, Fukuda S, Kobayashi H, Mushimoto Y, Yamada K, Takahashi T, Fukao T, Yamaguchi S. Purevsuren J, et al. Among authors: fukao t. Mol Genet Metab. 2012 Sep;107(1-2):237-40. doi: 10.1016/j.ymgme.2012.06.010. Epub 2012 Jun 26. Mol Genet Metab. 2012. PMID: 22796001

8

Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.

Kuwahara T, Fukao T, Kano M, Yamaguchi S, Orii T, Hashimoto T. Kuwahara T, et al. Among authors: fukao t. Hum Genet. 1992 Nov;90(3):208-10. doi: 10.1007/BF00220063. Hum Genet. 1992. PMID: 1362557

9

Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.

Wakazono A, Fukao T, Yamaguchi S, Hori T, Orii T, Lambert M, Mitchell GA, Lee GW, Hashimoto T. Wakazono A, et al. Among authors: fukao t. Hum Mutat. 1995;5(1):34-42. doi: 10.1002/humu.1380050105. Hum Mutat. 1995. PMID: 7728148 Free article.

10

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.

Fukao T, Song XQ, Yamaguchi S, Orii T, Wanders RJ, Poll-The BT, Hashimoto T. Fukao T, et al. Hum Mutat. 1995;5(1):94-6. doi: 10.1002/humu.1380050113. Hum Mutat. 1995. PMID: 7728155 No abstract available.

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