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N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease.
Lin H, Sugimoto Y, Ohsaki Y, Ninomiya H, Oka A, Taniguchi M, Ida H, Eto Y, Ogawa S, Matsuzaki Y, Sawa M, Inoue T, Higaki K, Nanba E, Ohno K, Suzuki Y. Lin H, et al. Among authors: ohno k. Biochim Biophys Acta. 2004 Aug 4;1689(3):219-28. doi: 10.1016/j.bbadis.2004.03.007. Biochim Biophys Acta. 2004. PMID: 15276648 Free article.
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.
Higaki K, Li L, Bahrudin U, Okuzawa S, Takamuram A, Yamamoto K, Adachi K, Paraguison RC, Takai T, Ikehata H, Tominaga L, Hisatome I, Iida M, Ogawa S, Matsuda J, Ninomiya H, Sakakibara Y, Ohno K, Suzuki Y, Nanba E. Higaki K, et al. Among authors: ohno k. Hum Mutat. 2011 Jul;32(7):843-52. doi: 10.1002/humu.21516. Hum Mutat. 2011. PMID: 21520340
New GAA mutations in Japanese patients with GSDII (Pompe disease).
Pipo JR, Feng JH, Yamamoto T, Ohsaki Y, Nanba E, Tsujino S, Sakuragawa N, Martiniuk F, Ninomiya H, Oka A, Ohno K. Pipo JR, et al. Among authors: ohno k. Pediatr Neurol. 2003 Oct;29(4):284-7. doi: 10.1016/s0887-8994(03)00267-4. Pediatr Neurol. 2003. PMID: 14643388
Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis.
Matsuda J, Suzuki O, Oshima A, Yamamoto Y, Noguchi A, Takimoto K, Itoh M, Matsuzaki Y, Yasuda Y, Ogawa S, Sakata Y, Nanba E, Higaki K, Ogawa Y, Tominaga L, Ohno K, Iwasaki H, Watanabe H, Brady RO, Suzuki Y. Matsuda J, et al. Among authors: ohno k. Proc Natl Acad Sci U S A. 2003 Dec 23;100(26):15912-7. doi: 10.1073/pnas.2536657100. Epub 2003 Dec 15. Proc Natl Acad Sci U S A. 2003. PMID: 14676316 Free PMC article.
2,327 results