Sakai N - Search Results

1

Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene.

Tokushige S, Sonoo T, Maekawa R, Shirota Y, Hanajima R, Terao Y, Matsumoto H, Hossain MA, Sakai N, Shiio Y. Tokushige S, et al. Among authors: sakai n. Brain Dev. 2013 Jun;35(6):579-81. doi: 10.1016/j.braindev.2012.08.004. Epub 2012 Sep 6. Brain Dev. 2013. PMID: 22959700

2

Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease.

Kawai M, Sakai N, Miyake S, Tsukamoto H, Akagi M, Inui K, Mushiake S, Taniike M, Ozono K. Kawai M, et al. Among authors: sakai n. Brain Dev. 2006 Jan;28(1):60-2. doi: 10.1016/j.braindev.2005.03.011. Epub 2005 Sep 15. Brain Dev. 2006. PMID: 16168595

3

Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.

Xu C, Sakai N, Taniike M, Inui K, Ozono K. Xu C, et al. Among authors: sakai n. J Hum Genet. 2006;51(6):548-554. doi: 10.1007/s10038-006-0396-3. Epub 2006 Apr 11. J Hum Genet. 2006. PMID: 16607461

4

Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment.

Sakai N. Sakai N. Brain Dev. 2009 Aug;31(7):485-7. doi: 10.1016/j.braindev.2009.03.001. Epub 2009 Mar 29. Brain Dev. 2009. PMID: 19332366 Review.

5

Clinicogenetical features of a Japanese patient with giant axonal neuropathy.

Akagi M, Mohri I, Iwatani Y, Kagitani-Shimono K, Okinaga T, Sakai N, Ozono K, Taniike M. Akagi M, et al. Among authors: sakai n. Brain Dev. 2012 Feb;34(2):156-62. doi: 10.1016/j.braindev.2011.02.003. Epub 2011 Feb 26. Brain Dev. 2012. PMID: 21356581

6

Genistein reduces heparan sulfate accumulation in human mucolipidosis II skin fibroblasts.

Otomo T, Hossain MA, Ozono K, Sakai N. Otomo T, et al. Among authors: sakai n. Mol Genet Metab. 2012 Feb;105(2):266-9. doi: 10.1016/j.ymgme.2011.10.015. Epub 2011 Oct 30. Mol Genet Metab. 2012. PMID: 22088809

7

A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.

Kardas F, Uzak AS, Hossain MA, Sakai N, Canpolat M, Yıkılmaz A. Kardas F, et al. Among authors: sakai n. Gene. 2013 Mar 15;517(1):125-7. doi: 10.1016/j.gene.2012.12.040. Epub 2012 Dec 28. Gene. 2013. PMID: 23276707

8

Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.

Hossain MA, Otomo T, Saito S, Ohno K, Sakuraba H, Hamada Y, Ozono K, Sakai N. Hossain MA, et al. Among authors: sakai n. Gene. 2014 Jan 25;534(2):144-54. doi: 10.1016/j.gene.2013.11.003. Epub 2013 Nov 16. Gene. 2014. PMID: 24252386

9

Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.

Hossain MA, Higaki K, Saito S, Ohno K, Sakuraba H, Nanba E, Suzuki Y, Ozono K, Sakai N. Hossain MA, et al. Among authors: sakai n. J Hum Genet. 2015 Sep;60(9):539-45. doi: 10.1038/jhg.2015.61. Epub 2015 Jun 25. J Hum Genet. 2015. PMID: 26108143

10

Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.

Hossain MA, Higaki K, Shinpo M, Nanba E, Suzuki Y, Ozono K, Sakai N. Hossain MA, et al. Among authors: sakai n. Brain Dev. 2016 Feb;38(2):175-80. doi: 10.1016/j.braindev.2015.07.006. Epub 2015 Aug 7. Brain Dev. 2016. PMID: 26259553

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