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Items: 1 to 20 of 117

1.

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.

Fukao T, Aoyama Y, Murase K, Hori T, Harijan RK, Wierenga RK, Boneh A, Kondo N.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):184-7. doi: 10.1016/j.ymgme.2013.07.004. Epub 2013 Jul 14.

PMID:
23920042
2.

Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency.

Zhang G, Fukao T, Sakurai S, Yamada K, Michael Gibson K, Kondo N.

Mol Genet Metab. 2006 Nov;89(3):222-6. Epub 2006 Aug 28.

PMID:
16935016
3.

Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Fukao T, Zhang G, Rolland MO, Zabot MT, Guffon N, Aoki Y, Kondo N.

Mol Genet Metab. 2007 Dec;92(4):375-8. Epub 2007 Aug 23.

PMID:
17719254
4.

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.

Hum Mutat. 1995;5(1):94-6. No abstract available.

PMID:
7728155
5.
6.
7.

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.

Hum Genet. 1992 Nov;90(3):208-10.

PMID:
1362557
8.

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

Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NT, Pham AT, Nguyen KN, Kobayashi H, Hasegawa Y, Bui TP, Niezen-Koning KE, Wanders RJ, de Koning T, Nguyen LT, Yamaguchi S, Kondo N.

Mol Genet Metab. 2010 May;100(1):37-41. doi: 10.1016/j.ymgme.2010.01.007. Epub 2010 Jan 21.

PMID:
20156697
10.

Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.

Thümmler S, Dupont D, Acquaviva C, Fukao T, de Ricaud D.

Tohoku J Exp Med. 2010 Jan;220(1):27-31.

11.

Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Aoyama Y, Yamamoto T, Sakaguchi N, Ishige M, Tanaka T, Ichihara T, Ohara K, Kouzan H, Kinosada Y, Fukao T.

Int J Mol Med. 2015 Jun;35(6):1554-60. doi: 10.3892/ijmm.2015.2184. Epub 2015 Apr 14.

12.

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

Otsuka H, Sasai H, Nakama M, Aoyama Y, Abdelkreem E, Ohnishi H, Konstantopoulou V, Sass JO, Fukao T.

Mol Med Rep. 2016 Nov;14(5):4906-4910. doi: 10.3892/mmr.2016.5819. Epub 2016 Oct 10.

PMID:
27748876
13.
14.

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

Akella RR, Aoyama Y, Mori C, Lingappa L, Cariappa R, Fukao T.

Brain Dev. 2014 Jun;36(6):537-40. doi: 10.1016/j.braindev.2013.07.007. Epub 2013 Aug 16.

PMID:
23958592
15.

Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase.

Fukao T, Yamaguchi S, Wakazono A, Okamoto H, Orii T, Osumi T, Hashimoto T.

J Inherit Metab Dis. 1992;15(5):815-20. No abstract available.

PMID:
1359192
16.
17.

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

Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, Kondo N.

Mol Genet Metab. 2010 Aug;100(4):339-44. doi: 10.1016/j.ymgme.2010.03.012. Epub 2010 Mar 19.

PMID:
20488739
18.

Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency.

Mrázová L, Fukao T, Hálovd K, Gregová E, Kohút V, Pribyl D, Chrastina P, Kondo N, Pospisilová E.

J Inherit Metab Dis. 2005;28(2):235-6.

PMID:
15877211
19.

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.

Hum Mutat. 1995;5(1):34-42.

PMID:
7728148
20.

Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency.

Nagasawa H, Yamaguchi S, Orii T, Schutgens RB, Sweetman L, Hashimoto T.

Pediatr Res. 1989 Aug;26(2):145-9.

PMID:
2570398

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