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Items: 1 to 20 of 116

1.

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings.

Song XQ, Fukao T, Watanabe H, Shintaku H, Hirayama K, Kassovska-Bratinova S, Kondo N, Mitchell GA.

Hum Mutat. 1998;12(2):83-8.

PMID:
9671268
2.

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.

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.

Genomics. 2000 Sep 1;68(2):144-51.

PMID:
10964512
3.

Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.

Kassovska-Bratinova S, Fukao T, Song XQ, Duncan AM, Chen HS, Robert MF, Pérez-Cerdá C, Ugarte M, Chartrand C, Vobecky S, Kondo N, Mitchell GA.

Am J Hum Genet. 1996 Sep;59(3):519-28.

4.

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.

Yamada K, Fukao T, Zhang G, Sakurai S, Ruiter JP, Wanders RJ, Kondo N.

Mol Genet Metab. 2007 Mar;90(3):291-7. Epub 2006 Dec 13.

PMID:
17169596
5.

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.

Pediatr Res. 2004 Dec;56(6):858-63. Epub 2004 Oct 20.

PMID:
15496607
6.

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.

Mol Genet Metab. 2007 Nov;92(3):216-21. Epub 2007 Aug 13.

PMID:
17706444
7.

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.

Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S307-13. doi: 10.1007/s10545-010-9168-5. Epub 2010 Jul 21.

PMID:
20652411
8.
9.

Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency.

Fukao T, Song XQ, Watanabe H, Hirayama K, Sakazaki H, Shintaku H, Imanaka M, Orii T, Kondo N.

Prenat Diagn. 1996 May;16(5):471-4.

PMID:
8844009
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.

Tohoku J Exp Med. 2008 Jul;215(3):227-36.

11.

Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Barić I, Zabot MT, Kondo N.

Biochim Biophys Acta. 2011 May;1812(5):619-24. doi: 10.1016/j.bbadis.2011.01.015. Epub 2011 Feb 2.

12.

Differential expression of succinyl CoA transferase (SCOT) genes in somatic and germline cells of the mouse testis.

Tanaka H, Iguchi N, Miyagawa Y, Koga M, Kohroki J, Nishimune Y.

Int J Androl. 2003 Feb;26(1):52-6.

PMID:
12534938
13.
14.

A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Shafqat N, Kavanagh KL, Sass JO, Christensen E, Fukao T, Lee WH, Oppermann U, Yue WW.

J Inherit Metab Dis. 2013 Nov;36(6):983-7. doi: 10.1007/s10545-013-9589-z. Epub 2013 Feb 19.

15.
16.

Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA:3-ketoacid CoA-transferase in cultured fibroblasts.

Pretorius CJ, Loy Son GG, Bonnici F, Harley EH.

J Inherit Metab Dis. 1996;19(3):296-300.

PMID:
8803771
17.

Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency.

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.

Biochim Biophys Acta. 1997 Apr 12;1360(2):151-6.

PMID:
9128180
18.

Inborn errors of ketone body utilization.

Hori T, Yamaguchi S, Shinkaku H, Horikawa R, Shigematsu Y, Takayanagi M, Fukao T.

Pediatr Int. 2015;57(1):41-8. doi: 10.1111/ped.12585. Review.

PMID:
25559898
19.

Cloning and characterization of a human orthologue of testis-specific succinyl CoA: 3-oxo acid CoA transferase (Scot-t) cDNA.

Tanaka H, Kohroki J, Iguchi N, Onishi M, Nishimune Y.

Mol Hum Reprod. 2002 Jan;8(1):16-23.

PMID:
11756565
20.

Structure of the mammalian CoA transferase from pig heart.

Bateman KS, Brownie ER, Wolodko WT, Fraser ME.

Biochemistry. 2002 Dec 10;41(49):14455-62.

PMID:
12463743

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