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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: ninomiya h. 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: ninomiya h. Pediatr Neurol. 2003 Oct;29(4):284-7. doi: 10.1016/s0887-8994(03)00267-4. Pediatr Neurol. 2003. PMID: 14643388
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: ninomiya h. 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.
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: ninomiya h. 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
Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome?
Saito Y, Toyoshima M, Oka A, Zhuo L, Moriwaki S, Yamamoto O, Kanzaki S, Hanaki K, Ninomiya H, Nanba E, Kondo A, Maegaki Y, Ohno K. Saito Y, et al. Among authors: ninomiya h. Brain Dev. 2008 Mar;30(3):221-5. doi: 10.1016/j.braindev.2007.08.004. Epub 2007 Sep 17. Brain Dev. 2008. PMID: 17870267
811 results