181 related articles for article (PubMed ID: 8751852)
1. 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. PubMed ID: 8751852
[TBL] [Abstract][Full Text] [Related]
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; 68(2):144-51. PubMed ID: 10964512
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 9671268
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 15496607
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 17706444
[TBL] [Abstract][Full Text] [Related]
6. Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.
Sasai H; Aoyama Y; Otsuka H; Abdelkreem E; Naiki Y; Kubota M; Sekine Y; Itoh M; Nakama M; Ohnishi H; Fujiki R; Ohara O; Fukao T
J Inherit Metab Dis; 2017 Nov; 40(6):845-852. PubMed ID: 28695376
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 17169596
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 11756565
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 18648183
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 20652411
[TBL] [Abstract][Full Text] [Related]
11. When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.
Schwade JN; Endmann M; Hofmann T; Rust S; Sass JO; Rutsch F
J Pediatr Endocrinol Metab; 2017 Oct; 30(10):1121-1124. PubMed ID: 28820737
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 21296660
[TBL] [Abstract][Full Text] [Related]
13. Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency.
Berry GT; Fukao T; Mitchell GA; Mazur A; Ciafre M; Gibson J; Kondo N; Palmieri MJ
J Inherit Metab Dis; 2001 Oct; 24(5):587-95. PubMed ID: 11757586
[TBL] [Abstract][Full Text] [Related]
14. 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.
Fukao T; Sakurai S; Rolland MO; Zabot MT; Schulze A; Yamada K; Kondo N
Mol Genet Metab; 2006 Nov; 89(3):280-2. PubMed ID: 16765626
[TBL] [Abstract][Full Text] [Related]
15. Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.
Grünert SC; Foster W; Schumann A; Lund A; Pontes C; Roloff S; Weinhold N; Yue WW; AlAsmari A; Obaid OA; Faqeih EA; Stübbe L; Yamamoto R; Gemperle-Britschgi C; Walter M; Spiekerkoetter U; Mackinnon S; Sass JO
Biochimie; 2021 Apr; 183():55-62. PubMed ID: 33596448
[TBL] [Abstract][Full Text] [Related]
16. Growth-inhibitory effects of the ketone body, monoacetoacetin, on human gastric cancer cells with succinyl-CoA: 3-oxoacid CoA-transferase (SCOT) deficiency.
Sawai M; Yashiro M; Nishiguchi Y; Ohira M; Hirakawa K
Anticancer Res; 2004; 24(4):2213-7. PubMed ID: 15330163
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 23420214
[TBL] [Abstract][Full Text] [Related]
18. Isolation and characterization of a haploid germ cell-specific novel complementary deoxyribonucleic acid; testis-specific homologue of succinyl CoA:3-Oxo acid CoA transferase.
Koga M; Tanaka H; Yomogida K; Nozaki M; Tsuchida J; Ohta H; Nakamura Y; Masai K; Yoshimura Y; Yamanaka M; Iguchi N; Nojima H; Matsumiya K; Okuyama A; Nishimune Y
Biol Reprod; 2000 Dec; 63(6):1601-9. PubMed ID: 11090426
[TBL] [Abstract][Full Text] [Related]
19. A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous
Kim YA; Kim SH; Cheon CK; Kim YM
Yonsei Med J; 2019 Mar; 60(3):308-311. PubMed ID: 30799594
[TBL] [Abstract][Full Text] [Related]
20. 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
Pediatr Res; 1997 Oct; 42(4):498-502. PubMed ID: 9380443
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
