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NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K. Yamamoto T, et al. Among authors: higaki k. Hum Genet. 1999 Jul-Aug;105(1-2):10-6. doi: 10.1007/s004399900059. Hum Genet. 1999. PMID: 10480349
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: higaki 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.
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: higaki 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.
Fibroblast screening for chaperone therapy in beta-galactosidosis.
Iwasaki H, Watanabe H, Iida M, Ogawa S, Tabe M, Higaki K, Nanba E, Suzuki Y. Iwasaki H, et al. Among authors: higaki k. Brain Dev. 2006 Sep;28(8):482-6. doi: 10.1016/j.braindev.2006.02.002. Epub 2006 Apr 17. Brain Dev. 2006. PMID: 16617000
The TSC1 gene product hamartin interacts with NADE.
Yasui S, Tsuzaki K, Ninomiya H, Floricel F, Asano Y, Maki H, Takamura A, Nanba E, Higaki K, Ohno K. Yasui S, et al. Among authors: higaki k. Mol Cell Neurosci. 2007 May;35(1):100-8. doi: 10.1016/j.mcn.2007.02.007. Epub 2007 Feb 12. Mol Cell Neurosci. 2007. PMID: 17355907
381 results