-
1. Krabbe disease: Isolation and characterization of a full-length cDNA for human galactocerebrosidase. Biochem. Biophys. Res. Commun., 198:485-491, 1994
Sakai, N., Inui, K., Fujii, N., Fukushima, H., Nishimoto, J., Yanagihara, I., Isegawa, Y., Iwamatsu, A. and Okada, S.
-
2. Purification and characterization of galactocerebrosidase from human lymphocytes. J. Biochemistry, 116:615-620, 1994
Sakai, N., Inui, K., Midorikawa, M., Okuno, Y., Ueda, S., Iwamatsu, A. and Okada, S.
-
3. Molecular cloning and expression of a cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe disease. J. Neurochem., 66:1118-1124, 1996
Sakai, N., Inui, K., Tatsumi, N., Fukushima, H., Nishigaki, T., Taniike, M., Nishimoto, J., Tsukamoto, H., Yanagihara, I., Ozono, K. and Okada, S.
-
4. Human galactocerebrosidase gene: promoter analysis of the 5’-flanking region and structural organization. Biochim. Biophys. Acta., 1395:62-67, 1998
Sakai, N., Fukushima, H., Inui, K., Fu, L., Nishigaki, T., Yanagihara, I., Tatsumi, N., Ozono, K. and Okada, S.
-
5. Pax1 and Pax9 synergistically regulate vertebral column development., Development 126:5399-5408, 1999
Peters, H., Wilm, B., Sakai, N., Imai, K., Maas, R. and Balling, R.
-
6. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion., Nat Genet. 37(5):468-70, 2005
Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H.
-
7. Enzyme replacement therapy in Japanese Fabry disease patients: the results of a phase 2 bridging study., J Inherit Metab Dis. 28(4):575-83, 2005
Eto Y, Ohashi T, Utsunomiya Y, Fujiwara M, Mizuno A, Inui K, Sakai N, Kitagawa T, Suzuki Y, Mochizuki S, Kawakami M, Hosoya T, Owada M, Sakuraba H, Saito H.
-
8. Six novel mutations detected in GALC gene in 17 Japanese patients with Krabbe disease and new genotype-phenotype correlation., J Hum Genet 51(6):548-554, 2006
Xu C, Sakai N, Taniike M, Inui , Ozono K.
-
9. Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype phenotype correlation, J Hum Genet, 54(3):145-51, 2009
Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N
-
10. Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts., Mol Genet Metab. 98(4):393-9, 2009
Otomo T, Higaki K, Nanba E, Ozono K, Sakai N.
-
11. Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment., Brain Dev. 31(7):485-7, 2009
Sakai N.
-
12. Lysosomal storage causes cellular dysfunction In mucolipidosis II skin fibroblasts., J Biol Chem. 286(40): 35283-90, 2011
Otomo T, Higaki K, Nanba E, Ozono K, Sakai N.
-
13. Genistein reduces heparan sulfate accumulation in human mucolipidosis II skin fibroblasts., Mol Genet Metab. 105(2):266-9, 2012
Otomo T, Hossain MA, Ozono K, Sakai N.
-
14. Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan., Mol Genet Metab. 107(3):513-20, 2012
Tanaka A, Okuyama T, Suzuki Y, Sakai N, Takakura H, Sawada T, Tanaka T, Otomo T, Ohashi T, Ishige-Wada M, Yabe H, Ohura T, Suzuki N, Kato K, Adachi S, Kobayashi R, Mugishima H, Kato S.
-
15. Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene., Brain Dev. 35(6):579-81, 2013
Tokushige SI, Sonoo T, Maekawa R, Shirota Y, Hanajima R, Terao Y, Matsumoto H, Hossain MA, Sakai N, Shiio Y.
-
16. Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form., Gene. 534(2):144-54, 2014
Hossain MA, Otomo T, Saito S, Ohno K, Sakuraba H, Hamada Y, Ozono K, Sakai N.
-
17. Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease, Annals of Clinical and Translational Neurology, 1(2): 135?140, 2014
Narita A, Shirai K, Kubota N, Takayama N, Takahashi Y, Onuki T, Numakura C, Kato, M, Hamada Y, Sakai N, Ohno A, Asami M, Matsushita S, Hayashi A, Kumada T, Fujii T, Horino A, Inoue T, Kuki I, Asakawa K, Ishikawa H, Ohno K, Nishimura Y, Tamasaki A, Maegaki Y and Ohno K
-
18. Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations., J Hum Genet. 60(9):539-45, 2015
Hossain MA, Higaki K, Saito S, Ohno K, Sakuraba H, Nanba E, Suzuki Y, Ozono K, Sakai N.
-
19. Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts., Brain Dev. 38(2):175-80, 2016
Hossain MA, Higaki K, Shinpo M, Nanba E, Suzuki Y, Ozono K, Sakai N.
-
20. Hematopoietic stem cell transplantation for inborn errors of metabolism: A report from the Research Committee on Transplantation for Inborn Errors of Metabolism of the Japanese Ministry of Health, Labour and Welfare and the Working Group of the Japan Society for Hematopoietic Cell Transplantation., Pediatr Transplant., 20(2):203-14. 2016
Kato S, Yabe H, Takakura H, Mugishima H, Ishige M, Tanaka A, Kato K, Yoshida N, Adachi S, Sakai N, Hashii Y, Ohashi T, Sasahara Y, Suzuki Y, Tabuchi K.
-
21. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study., J Med Genet. 2017 Apr;54(4):288-296
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U.
-
22. Neglected visual function impairment associated with cornea verticillata due to Fabry disease., Intern Med J. 2017 Aug;47(8):969-971. doi: 10.1111/imj.13501
Koh S, Hamano T, Sakai N, Maeda N, Nishida K.
-
23. Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type., J Hum Genet. 2018 Apr 3. doi: 10.1038/s10038-018-0445-8.
Irahara-Miyana K, Otomo T, Kondo H, Hossain MA, Ozono K, Sakai N.
-
24. Prominent regression of corneal deposits in Fabry disease 16 years after initiation of enzyme replacement therapy., Acta Ophthalmol. 2018 Mar;96(2):e255-e256. doi: 10.1111/aos.13541.
Koh S, Sakai N, Maeda N, Nishida K.
-
25. Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients., Hum Genome Var. 2018 Oct 5;5:28. doi: 10.1038/s41439-018-0027-5
Irahara-Miyana K, Enokizono T, Ozono K, Sakai N.
-
26. Effect of Enzyme Replacement Therapy on Basilar Artery Diameter in Male Patients With Fabry Disease., Stroke. 2019 Mar 11. doi: 10.1161 [Epub ahead of print]
Miwa K, Yagita Y, Sakaguchi M, Kitagawa K, Sakai N, Mochizuki H.
-
27. Quantitative evaluation of visual function in patients with cornea verticillata associated with Fabry disease., Acta Ophthalmol. 2019;Dec;97(8):e1098-e1104. doi: 10.1111/aos.14143
Koh S, Haruna M, Asonuma S, Maeda N, Hamano T, Sakai N, Hara C, Maruyama K, Nishida K.
-
28. Magnetic Resonance Imaging Findings Related to Stroke Risk in Japanese Patients With Fabry Disease., Stroke. 2019;50(9):2571-2573. doi: 10.1161/STROKEAHA.119.025528 24
Yagita Y, Sakai N, Miwa K, Ohara N, Tanaka M, Sakaguchi M, Kitagawa K, Mochizuki H.
-
29. Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study., Clin Exp Nephrol. 2020 Feb;24(2):157-166. doi: 10.1007/s10157-019-01810-w. Epub 2019 Dec 30.
Narita I, Ohashi T, Sakai N, Hamazaki T, Skuban N, Castelli JP, Lagast H, Barth JA.
