Toshiyuki Fukao
Department of Pediatrics
Gifu University School of Medicine
Gifu, Gifu, 500-8076
Japan
Name/email consistency: medium
- 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, G.X., Nakamura, K., Kondo, M., Kondo, N. Pediatr. Res. (2004)
- Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure. Fukao, T., Nakamura, H., Nakamura, K., Perez-Cerda, C., Baldellou, A., Barrionuevo, C.R., Castello, F.G., Kohno, Y., Ugarte, M., Kondo, N. Mol. Genet. Metab. (2002)
- The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. Fukao, T., Scriver, C.R., Kondo, N. Mol. Genet. Metab. (2001)
- 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, G.A., Song, X.Q., Nakamura, H., Kassovska-Bratinova, S., Orii, K.E., Wraith, J.E., Besley, G., Wanders, R.J., Niezen-Koning, K.E., Berry, G.T., Palmieri, M., Kondo, N. Genomics (2000)
