18 results for author:"Sakamoto O." in Literature citations
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| Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. Kikuchi A., Arai-Ichinoi N., Sakamoto O., Matsubara Y., Saheki T., Kobayashi K., Ohura T., Kure S. Mol. Genet. Metab. 105:553-558(2012) · Mapped (5) |
| Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome. Aso K., Okano Y., Takeda T., Sakamoto O., Ban K., Iida K., Yamano T., Shintaku H. Osaka City Med J 57:1-9(2011) · Mapped (12) |
| Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. Vatanavicharn N., Liammongkolkul S., Sakamoto O., Sathienkijkanchai A., Wasant P. Pediatr Int 53:990-994(2011) · Mapped (5) |
| Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. Uematsu M., Sakamoto O., Sugawara N., Kumagai N., Morimoto T., Yamaguchi S., Hasegawa Y., Kobayashi H., Ihara K., Yoshino M. et al. J. Hum. Genet. 52:1040-1043(2007) · Mapped (9) |
| Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. Yang X., Sakamoto O., Matsubara Y., Kure S., Suzuki Y., Aoki Y., Suzuki Y., Sakura N., Takayanagi M., Iinuma K. et al. Mol. Genet. Metab. 82:329-333(2004) · UniProtKB (1) · Mapped (2) |
| Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. Yang X., Sakamoto O., Matsubara Y., Kure S., Suzuki Y., Aoki Y., Yamaguchi S., Takahashi Y., Nishikubo T., Kawaguchi C. et al. Mol. Genet. Metab. 81:335-342(2004) · UniProtKB (2) |
| Effects of essential carbohydrate/aromatic stacking interaction with Tyr100 and Phe259 on substrate binding of cyclodextrin glycosyltransferase from alkalophilic Bacillus sp. 1011. Haga K., Kanai R., Sakamoto O., Aoyagi M., Harata K., Yamane K. J. Biochem. 134:881-891(2003) · Mapped (1) |
| Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome. Sakamoto O., Kitoh T., Ohura T., Ohya N., Iinuma K. J. Hum. Genet. 47:229-231(2002) · UniProtKB (1) |
| Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. Yang X., Aoki Y., Li X., Sakamoto O., Hiratsuka M., Kure S., Taheri S., Christensen E., Inui K., Kubota M. et al. Hum. Genet. 109:526-534(2001) · UniProtKB (1) |
| Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. Sakamoto O., Ogawa E., Ohura T., Igarashi Y., Matsubara Y., Narisawa K., Iinuma K. Pediatr. Res. 48:586-589(2000) · UniProtKB (1) |
| Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency. Sakamoto O., Suzuki Y., Li X., Aoki Y., Hiratsuka M., Suormala T., Baumgartner E.R., Gibson K.M., Narisawa K. Pediatr. Res. 46:671-676(1999) · UniProtKB (1) |
| Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. Aoki Y., Li X., Sakamoto O., Hiratsuka M., Akaishi H., Xu L., Briones P., Suormala T., Baumgartner E.R., Suzuki Y. et al. Hum. Genet. 104:143-148(1999) · UniProtKB (1) |
| Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. Kure S., Suzuki Y., Matsubara Y., Sakamoto O., Shintaku H., Isshiki G., Hoshida C., Izumi I., Sakura N., Narisawa K. Biochem. Biophys. Res. Commun. 248:426-431(1998) · UniProtKB (1) |
| Identification of holocarboxylase synthetase (HCS) proteins in human placenta. Hiratsuka M., Sakamoto O., Li X., Suzuki Y., Aoki Y., Narisawa K. Biochim. Biophys. Acta 1385:165-171(1998) |
| Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency. Aoki Y., Suzuki Y., Li X., Sakamoto O., Chikaoka H., Takita S., Narisawa K. Pediatr. Res. 42:849-854(1997) · UniProtKB (1) |
| Role of macrophage-stimulating protein and its receptor, RON tyrosine kinase, in ciliary motility. Sakamoto O., Iwama A., Amitani R., Takehara T., Yamaguchi N., Yamamoto T., Masuyama K., Yamanaka T., Ando M., Suda T. J. Clin. Invest. 99:701-709(1997) |
| Molecular cloning of rat macrophage-stimulating protein and its involvement in the male reproductive system. Ohshiro K., Iwama A., Matsuno K., Ezaki T., Sakamoto O., Hamaguchi I., Takasu N., Suda T. Biochem. Biophys. Res. Commun. 227:273-280(1996) · UniProtKB (1) |
| Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients. Aoki Y., Suzuki Y., Sakamoto O., Li X., Takahashi K., Ohtake A., Sakuta R., Ohura T., Miyabayashi S., Narisawa K. Biochim. Biophys. Acta 1272:168-174(1995) · UniProtKB (1) |